AiPD: Autoinhibited Protein Database

Q4G0J3

Gene name	LARP7
Protein name	La-related protein 7
Names	La ribonucleoprotein domain family member 7, hLARP7, P-TEFb-interaction protein for 7SK stability, PIP7S
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51574
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

217-334 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

217-334 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

6 structures for Q4G0J3

Entry ID	Method	Resolution	Chain	Position	Source
4WKR	X-ray	320 A	A/B	1-208	PDB
5KNW	NMR	-	A	445-561	PDB
6D12	X-ray	221 A	A/B	445-556	PDB
7SLP	EM	410 A	B	1-582	PDB
7SLQ	EM	370 A	B	1-582	PDB
AF-Q4G0J3-F1	Predicted				AlphaFoldDB

487 variants for Q4G0J3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1057519297 RCV000415594	72	S>missing	Microcephalic primordial dwarfism, Alazami type [ClinVar]	Yes	ClinVar dbSNP
CA249063 RCV000202866 RCV000998258 RCV002280110 rs200393300	107	T>I	Microcephalic primordial dwarfism, Alazami type [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000723344 rs1560929898	143	R>missing	Microcephalic primordial dwarfism, Alazami type [ClinVar]	Yes	ClinVar dbSNP
rs1554011296 RCV000627072	169	A>missing	Microcephalic primordial dwarfism, Alazami type [ClinVar]	Yes	ClinVar dbSNP
RCV002280102 RCV000964409 CA153524 rs141178932 RCV000117486	217	E>D	Microcephalic primordial dwarfism, Alazami type [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD
CA3049234 rs775430086 RCV000987466	227	R>*	Microcephalic primordial dwarfism, Alazami type [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs763929099 RCV000599079 RCV001262130	279	R>missing	Microcephalic primordial dwarfism, Alazami type [ClinVar]	Yes	ClinVar dbSNP
RCV000032816 rs1057519017	344	T>missing	Microcephalic primordial dwarfism, Alazami type [ClinVar]	Yes	ClinVar dbSNP
RCV001268018 RCV000824903 rs775657157	364	K>missing	Microcephalic primordial dwarfism, Alazami type [ClinVar]	Yes	ClinVar dbSNP
RCV000991426 rs1578642104	510	Y>missing	Microcephalic primordial dwarfism, Alazami type [ClinVar]	Yes	ClinVar dbSNP
VAR_083351	558	I>KRLDWQRLNKRVNI	ALAZS; reduced 2'-O-methylation of U6 snRNAs and defects in mRNA splicing [UniProt]	Yes	UniProt
RCV000117485 rs79383654 CA153522 RCV002055288	4	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757343808 CA3048915	5	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3048916 rs779049757	5	S>N		No	ClinGen ExAC gnomAD
rs757343808 CA103800760	5	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3048917 rs750625621	6	G>R		No	ClinGen ExAC gnomAD
CA3048918 rs758503259	8	Q>R		No	ClinGen ExAC gnomAD
rs780413411 CA3048919	9	E>K		No	ClinGen ExAC gnomAD
CA103800794 rs907105522	12	M>I		No	ClinGen TOPMed gnomAD
rs1212808208 CA357919785	16	S>N		No	ClinGen TOPMed
CA3048921 rs376550474	16	S>R		No	ClinGen ESP ExAC
rs1335444372 CA357919801	17	T>N		No	ClinGen TOPMed
CA357920567 rs1269618076 RCV000520554	22	E>V		No	ClinGen ClinVar TOPMed dbSNP
RCV000958538 rs570445594	22	E>missing		No	ClinVar dbSNP
rs781656152 CA3048927	23	V>A		No	ClinGen ExAC gnomAD
CA3048930 rs770446408	24	E>G		No	ClinGen ExAC gnomAD
rs1216876285 CA357920685	27	K>R		No	ClinGen gnomAD
CA357920706 rs1256714961	28	R>W		No	ClinGen gnomAD
CA357920737 rs1457661638	30	R>*		No	ClinGen TOPMed gnomAD
CA3048931 rs773692861	30	R>Q		No	ClinGen ExAC gnomAD
CA357920759 rs1449547335	31	V>A		No	ClinGen gnomAD
rs759254399 CA3048932	31	V>I		No	ClinGen ExAC gnomAD
CA357920797 rs1395944747	33	Q>L		No	ClinGen TOPMed
rs199656560 CA3048933	34	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs775430171 CA3048934	36	A>T		No	ClinGen ExAC gnomAD
rs369193429 CA3048935	37	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294001569 CA357920894	43	D>H		No	ClinGen gnomAD
rs1461842983 CA357920939	45	W>*		No	ClinGen gnomAD
rs1327691390 CA357920958	46	F>Y		No	ClinGen gnomAD
rs1167951129 CA357920982	48	D>A		No	ClinGen TOPMed
rs761836331 CA357920979	48	D>H		No	ClinGen ExAC gnomAD
CA3048938 rs761836331	48	D>N		No	ClinGen ExAC gnomAD
CA357921020 rs1323112873	51	L>R		No	ClinGen gnomAD
rs1392854355 CA357921044	53	K>R		No	ClinGen TOPMed
rs1192846479 CA357921078	55	R>S		No	ClinGen TOPMed
rs750414935 CA3048940	58	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA357921120 rs1248178105	59	E>G		No	ClinGen TOPMed
rs201841958 CA103802416	62	E>Q		No	ClinGen ESP TOPMed gnomAD
rs758628046 CA357921196	64	S>C		No	ClinGen ExAC gnomAD
CA103802425 rs758628046	64	S>F		No	ClinGen ExAC gnomAD
rs758628046 CA3048942	64	S>Y		No	ClinGen ExAC gnomAD
rs780254262 CA3048943	65	R>K		No	ClinGen ExAC gnomAD
CA3048945 rs755313987	66	D>G		No	ClinGen ExAC gnomAD
rs764707281 CA3048993	68	Y>F		No	ClinGen ExAC gnomAD
rs1283445477 CA357921384	69	V>I		No	ClinGen TOPMed
CA3048995 rs757795390	70	D>G		No	ClinGen ExAC gnomAD
CA3048994 rs754363057	70	D>N		No	ClinGen ExAC gnomAD
CA357921411 rs1364226698	71	I>V		No	ClinGen gnomAD
CA357921433 rs1193660521	73	L>V		No	ClinGen gnomAD
rs1258834841 CA357921457	75	V>A		No	ClinGen gnomAD
rs1272277010 CA357921460	76	S>P		No	ClinGen gnomAD
CA357921470 rs1180499031	77	F>L		No	ClinGen gnomAD
CA103804534 rs908150942	80	M>I		No	ClinGen Ensembl
CA3048996 rs779730827	80	M>L		No	ClinGen ExAC TOPMed gnomAD
CA357921531 rs1205338787	81	K>E		No	ClinGen gnomAD
rs746456423 CA3048997	81	K>I		No	ClinGen ExAC gnomAD
CA357921579 rs1456600723	84	T>I		No	ClinGen TOPMed
CA3049000 rs754729747	85	T>A		No	ClinGen ExAC gnomAD
CA357921587 rs1360839073	85	T>S		No	ClinGen gnomAD
rs748028917 CA3049002	86	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769446246 CA3049003	86	D>V		No	ClinGen ExAC gnomAD
rs770799183 CA3049006	88	K>R		No	ClinGen ExAC gnomAD
CA357921685 rs1411893627	93	A>V		No	ClinGen TOPMed
CA3049009 rs759607066	95	R>G		No	ClinGen ExAC gnomAD
CA3049010 rs767837318	96	S>N		No	ClinGen ExAC TOPMed gnomAD
RCV000489417 rs1085307744	100	V>missing		No	ClinVar dbSNP
CA357921837 rs1317670018	102	L>F		No	ClinGen gnomAD
rs1210135862 CA357921839	102	L>H		No	ClinGen TOPMed gnomAD
CA3049041 rs775598872	103	D>N		No	ClinGen ExAC gnomAD
CA103804814 rs554726477	104	L>F		No	ClinGen 1000Genomes gnomAD
CA357921860 rs1560928633	104	L>S		No	ClinGen Ensembl
CA3049042 rs760828030	105	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1478786721 CA357921890	107	T>A		No	ClinGen gnomAD
CA357921897 rs200393300	107	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374971073 CA103804842	108	R>G		No	ClinGen ESP TOPMed gnomAD
CA357921922 rs540902339	109	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357921933 rs1164711856	110	R>Q		No	ClinGen gnomAD
CA16618023 RCV000479468 rs1064795626	110	R>W		No	ClinGen ClinVar Ensembl dbSNP
CA103804870 rs960482888	111	R>G		No	ClinGen TOPMed
rs576858846 CA3049046	112	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750928970 CA3049047	117	E>G		No	ClinGen ExAC gnomAD
CA357922029 rs1405683211	117	E>K		No	ClinGen Ensembl
rs1340381514 CA357922088	121	D>G		No	ClinGen gnomAD
rs766962342 CA3049049	125	R>C		No	ClinGen ExAC gnomAD
rs983509124 CA3049050	125	R>H		No	ClinGen Ensembl
rs1578583811 CA357922159	126	T>A		No	ClinGen Ensembl
CA3049052 rs752197537	126	T>R		No	ClinGen ExAC gnomAD
rs779393676 CA103804915	127	V>A		No	ClinGen TOPMed
rs777396139 CA3049054	128	Y>C		No	ClinGen ExAC gnomAD
rs1026406567 CA103804942	129	V>A		No	ClinGen TOPMed gnomAD
rs1578585790 CA357923071	133	P>A		No	ClinGen Ensembl
CA357923097 rs1560929668	134	K>R		No	ClinGen Ensembl
rs748408446 CA3049085	135	N>T		No	ClinGen ExAC gnomAD
rs201063875 CA3049087	136	V>I		No	ClinGen ExAC TOPMed gnomAD
rs201063875 CA357923124	136	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3049090 rs749662507	137	N>K		No	ClinGen ExAC TOPMed gnomAD
CA357923141 rs1560929770	138	H>D		No	ClinGen Ensembl
CA3049092 rs771396636	139	S>N		No	ClinGen ExAC gnomAD
rs774897137 CA3049093	139	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1463470204 CA357923197	142	E>K		No	ClinGen TOPMed
CA357923351 rs1402868011	150	N>S		No	ClinGen TOPMed gnomAD
CA3049100 rs548535574	151	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs750245131 CA3049102	152	V>I		No	ClinGen ExAC gnomAD
rs1330486673 CA357923400	153	Y>C		No	ClinGen gnomAD
CA357923433 rs1455104318	154	I>T		No	ClinGen TOPMed
CA3049103 rs758192482	154	I>V		No	ClinGen ExAC TOPMed gnomAD
rs766268120 CA3049105	156	I>M		No	ClinGen ExAC gnomAD
rs754922071 CA3049106	157	P>S		No	ClinGen ExAC gnomAD
rs1401301984 CA357923539	158	H>P		No	ClinGen TOPMed gnomAD
CA357923561 rs1265308846	159	Y>C		No	ClinGen gnomAD
rs1193010379 CA357923556	159	Y>D		No	ClinGen gnomAD
rs1386427059 CA357923591	160	K>T		No	ClinGen TOPMed
rs867964802 CA103805323	161	S>F		No	ClinGen Ensembl
CA3049108 rs368554683	161	S>P		No	ClinGen ESP ExAC gnomAD
CA103805316 rs867964802	161	S>Y		No	ClinGen Ensembl
CA3049109 rs372844097	162	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs778040449 CA3049110	162	T>I		No	ClinGen ExAC gnomAD
CA3049111 rs749660151	163	G>R		No	ClinGen ExAC gnomAD
CA3049112 rs375509442	165	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA357923741 rs1459086220	168	F>Y		No	ClinGen gnomAD
rs746396308 CA3049114	169	A>V		No	ClinGen ExAC gnomAD
CA103805351 rs1027484953	172	E>K		No	ClinGen TOPMed
CA3049115 rs772509043	174	E>G		No	ClinGen ExAC gnomAD
CA357923929 rs1313094875	180	A>S		No	ClinGen gnomAD
CA357923936 rs1303748178	181	K>E		No	ClinGen TOPMed gnomAD
rs1322584885 CA357923943	181	K>I		No	ClinGen gnomAD
rs1224009316 CA357923946	181	K>N		No	ClinGen gnomAD
CA357923957 rs951872139	183	I>F		No	ClinGen TOPMed gnomAD
CA357923963 rs1208331721	183	I>M		No	ClinGen TOPMed
CA103805359 rs951872139	183	I>V		No	ClinGen TOPMed gnomAD
CA357923971 rs1217348030	184	E>*		No	ClinGen TOPMed gnomAD
CA357923977 rs1265993631	184	E>A		No	ClinGen gnomAD
CA357923979 CA3049120 rs199621386	184	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357923970 rs1217348030	184	E>Q		No	ClinGen TOPMed gnomAD
rs772548477 CA3049165	186	L>R		No	ClinGen ExAC gnomAD
rs764991008 RCV000998259	186	L>missing		No	ClinVar dbSNP
rs1480161639 CA357924093	187	N>D		No	ClinGen TOPMed
CA3049167 rs762683568	188	N>Y		No	ClinGen ExAC gnomAD
rs1335783331 CA357924195	195	R>I		No	ClinGen gnomAD
CA357924199 rs1382350150	195	R>S		No	ClinGen gnomAD
rs368979221 CA103805660	199	I>L		No	ClinGen ExAC
CA3049173 rs767609358	199	I>M		No	ClinGen ExAC TOPMed gnomAD
CA3049171 rs368979221	199	I>V		No	ClinGen ExAC
rs1223785261 CA357924295	203	T>I		No	ClinGen gnomAD
CA3049175 rs752648352	205	K>N		No	ClinGen ExAC TOPMed gnomAD
rs570520937 CA3049176	206	N>I		No	ClinGen 1000Genomes ExAC gnomAD
RCV000627454 rs1554011503	207	K>missing		No	ClinVar dbSNP
rs753801802 CA3049178	208	P>L		No	ClinGen ExAC TOPMed gnomAD
CA357924373 rs1180099256	209	I>L		No	ClinGen gnomAD
CA3049180 rs779100415	210	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1427210228 CA357924420	211	A>S		No	ClinGen gnomAD
CA357924443 rs1412647447	212	L>F		No	ClinGen TOPMed gnomAD
CA3049182 rs750843501	213	R>G		No	ClinGen ExAC TOPMed gnomAD
rs961016089 CA103805736	214	V>I		No	ClinGen gnomAD
CA3049224 rs756794031	217	E>Q		No	ClinGen ExAC
rs1318379679 CA357924696	219	K>N		No	ClinGen TOPMed
CA3049227 rs778523609	220	K>R		No	ClinGen ExAC gnomAD
CA357924722 rs1268748282	221	K>Q		No	ClinGen gnomAD
CA103805998 rs979615281	221	K>R		No	ClinGen Ensembl
CA3049230 rs745533824	222	K>N		No	ClinGen ExAC gnomAD
CA3049233 rs771789749	223	K>N		No	ClinGen ExAC TOPMed gnomAD
CA103806040 rs935484466	224	K>Q		No	ClinGen Ensembl
CA357924811 rs1383832147	226	G>D		No	ClinGen TOPMed
CA3049236 rs768695672	227	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1263838315 CA357924837	229	K>I		No	ClinGen TOPMed gnomAD
rs1263838315 CA357924833	229	K>R		No	ClinGen TOPMed gnomAD
rs1478736655 CA357924856	230	K>*		No	ClinGen gnomAD
rs1560932804 CA357924867	230	K>N		No	ClinGen Ensembl
CA357924872 rs776408557	231	E>*		No	ClinGen ExAC TOPMed gnomAD
CA3049241 rs776408557	231	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3049240 rs776408557	231	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA357924888 rs1217556940	231	E>V		No	ClinGen TOPMed
CA3049244 rs773219216	232	D>E		No	ClinGen ExAC TOPMed
rs1164032252 RCV001268017	233	N>missing		No	ClinVar dbSNP
rs1416134291 CA357924935	233	N>S		No	ClinGen gnomAD
CA357924960 rs1159329324	234	I>T		No	ClinGen TOPMed
CA357925002 rs1422825360	236	A>S		No	ClinGen gnomAD
CA3049248 rs766587064	239	E>G		No	ClinGen ExAC TOPMed gnomAD
CA357925073 rs1330670821	239	E>K		No	ClinGen gnomAD
CA3049250 rs755277679	241	M>I		No	ClinGen ExAC TOPMed gnomAD
rs752023817 CA3049249	241	M>T		No	ClinGen ExAC gnomAD
CA357925126 rs1316747223	241	M>V		No	ClinGen gnomAD
CA3049251 rs768113172	243	T>A		No	ClinGen ExAC gnomAD
rs184953760 CA3049252	243	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357925184 rs1363941598	244	S>G		No	ClinGen TOPMed
CA357925207 rs756638578	244	S>N		No	ClinGen ExAC gnomAD
CA103806211 rs202229270	244	S>R		No	ClinGen 1000Genomes
rs756638578 CA3049254	244	S>T		No	ClinGen ExAC gnomAD
CA357925211 rs1203287763	245	N>D		No	ClinGen TOPMed gnomAD
rs61602805 CA3049255 RCV001818648 RCV000888687	245	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs61602805 CA357925217	245	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3049256 rs745306804	246	T>S		No	ClinGen ExAC gnomAD
CA357925261 rs1428414992	247	S>G		No	ClinGen TOPMed
rs746868176 CA3049259	247	S>N		No	ClinGen ExAC gnomAD
rs186223016 CA103806255	248	I>M		No	ClinGen 1000Genomes
CA357925301 rs1442955017	249	S>G		No	ClinGen TOPMed gnomAD
CA357925352 rs1267747731	251	M>T		No	ClinGen TOPMed
rs1560933452 CA357925362	252	K>Q		No	ClinGen Ensembl
rs1490788416 CA357925397	254	S>Y		No	ClinGen TOPMed
rs1208393364 CA357925410	255	R>T		No	ClinGen gnomAD
CA3049262 rs536947693	256	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs536947693 CA103806281	256	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs373167325 CA3049263	257	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373167325 CA3049264	257	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA357925466 rs1396989691	258	S>T		No	ClinGen gnomAD
rs1085307746 RCV000489724	260	G>*		No	ClinVar dbSNP
CA3049266 rs771193812	261	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1309409695 CA357925580	264	E>D		No	ClinGen gnomAD
CA3049267 rs774408363	264	E>K		No	ClinGen ExAC gnomAD
rs1027546928 CA103806309	265	S>F		No	ClinGen Ensembl
rs900139242 CA103806334	266	T>I		No	ClinGen TOPMed gnomAD
rs900139242 CA357925603	266	T>S		No	ClinGen TOPMed gnomAD
CA357925625 rs1236585341	268	P>A		No	ClinGen gnomAD
rs1260078099 CA357925635	269	Q>K		No	ClinGen gnomAD
rs1446456403 CA357925643	269	Q>R		No	ClinGen gnomAD
CA103806361 rs529243678	272	C>F		No	ClinGen Ensembl
rs375829533 CA3049268	272	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs375829533 CA357925680	272	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554011775 CA3049271 CA3049270	273	S>*		No	ClinGen Ensembl
CA3049269 rs767792487	273	S>T		No	ClinGen ExAC gnomAD
CA103806408 rs201212143	276	K>E		No	ClinGen 1000Genomes
CA3049279 rs764693485	276	K>N		No	ClinGen ExAC
RCV000454270 rs1060499762 CA16609508	278	K>*		No	ClinGen ClinVar Ensembl dbSNP
CA357925778 rs757958464	278	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3049280 rs757958464	278	K>T		No	ClinGen ExAC TOPMed gnomAD
RCV000117487 RCV001682816 CA153526 rs62317770	279	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3049282 rs201250325	279	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1404330866 CA357925805	280	D>E		No	ClinGen TOPMed gnomAD
rs747933441 CA3049286	280	D>G		No	ClinGen ExAC gnomAD
CA357925794 rs1560934176	280	D>H		No	ClinGen Ensembl
CA357925815 rs1469018271	281	R>T		No	ClinGen TOPMed gnomAD
CA357925828 rs1331602086	282	V>A		No	ClinGen gnomAD
rs1378570241 CA357925839	283	E>V		No	ClinGen TOPMed gnomAD
CA3049288 rs201727777	284	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1023594873 CA103806509	285	S>Y		No	ClinGen Ensembl
rs749413494 CA3049289	286	S>G		No	ClinGen ExAC gnomAD
rs1235297961 CA357925899	289	E>K		No	ClinGen TOPMed gnomAD
rs770950781 CA3049290	291	R>G		No	ClinGen ExAC TOPMed gnomAD
CA357925931 rs774437783	291	R>I		No	ClinGen ExAC gnomAD
rs774437783 CA3049291	291	R>T		No	ClinGen ExAC gnomAD
rs577197566 CA3049292	292	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA357925940 rs1262562247	292	T>K		No	ClinGen TOPMed
rs772265784 CA3049293	295	R>K		No	ClinGen ExAC gnomAD
CA103806527 rs937970407	297	R>K		No	ClinGen TOPMed gnomAD
CA103806538 rs969327433	298	S>N		No	ClinGen Ensembl
rs775781419 CA3049294	299	S>I		No	ClinGen ExAC gnomAD
rs541057628 CA3049295	303	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA357926115 rs1171760413	305	S>C		No	ClinGen TOPMed gnomAD
CA357926117 rs1171760413	305	S>F		No	ClinGen TOPMed gnomAD
rs979666067 CA103806560	307	A>G		No	ClinGen Ensembl
rs764744775 CA357926127	307	A>P		No	ClinGen ExAC gnomAD
CA3049296 rs764744775	307	A>T		No	ClinGen ExAC gnomAD
CA357926131 rs1390810521	308	P>T		No	ClinGen gnomAD
CA103806580 rs866288154	309	R>*		No	ClinGen gnomAD
rs371035787 CA3049298	309	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs765820560 CA3049300	310	S>*		No	ClinGen ExAC
CA3049301 rs751017218	312	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754655165 CA3049302	313	K>N		No	ClinGen ExAC gnomAD
rs1279819612 CA357926164	313	K>R		No	ClinGen gnomAD
CA357926170 rs1225484345	314	K>E		No	ClinGen gnomAD
rs767188889 CA3049303	314	K>T		No	ClinGen ExAC gnomAD
rs777508785 CA3049306	317	Q>H		No	ClinGen ExAC gnomAD
rs375697987 CA3049304	317	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375697987 CA3049305	317	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1467322746 CA357926224	318	K>Q		No	ClinGen TOPMed
CA3049310 rs757156044	320	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1422057182 CA357926260	320	I>T		No	ClinGen gnomAD
rs1194886433 CA357926253	320	I>V		No	ClinGen gnomAD
rs772240434 CA3049313	322	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1426020844 CA357926289	323	E>K		No	ClinGen gnomAD
rs759582573 CA3049314	324	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3049315 rs769173145	324	A>V		No	ClinGen ExAC gnomAD
rs777079200 CA3049316	325	S>L		No	ClinGen ExAC gnomAD
CA3049317 rs200072154	326	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA357926318 rs1181476610	326	E>K		No	ClinGen TOPMed
CA3049318 rs765771089	328	S>T		No	ClinGen ExAC gnomAD
CA103806685 rs900175358	328	S>Y		No	ClinGen TOPMed gnomAD
CA357926353 rs1213096849	329	K>R		No	ClinGen gnomAD
CA3049320 rs759067833	330	E>K		No	ClinGen ExAC gnomAD
CA103806944 rs917902754	334	I>M		No	ClinGen TOPMed gnomAD
RCV000883471 CA3049363 rs200831675	334	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763729793 CA3049362	334	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3049365 rs761645480	335	E>V		No	ClinGen ExAC gnomAD
rs1337864716 CA357926492	336	I>F		No	ClinGen TOPMed
rs765125762 CA3049366	337	S>C		No	ClinGen ExAC gnomAD
rs750405942 CA3049367	338	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3049368 rs189806015 RCV000880134	338	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA103806960 rs750405942	338	T>P		No	ClinGen ExAC TOPMed gnomAD
rs907718553 CA103806977	340	E>G		No	ClinGen TOPMed
rs1479340992 CA357926533	340	E>Q		No	ClinGen gnomAD
rs751686070 CA3049370	342	K>R		No	ClinGen ExAC gnomAD
CA357926563 rs751686070	342	K>T		No	ClinGen ExAC gnomAD
rs781544374 CA3049372	344	T>I		No	ClinGen ExAC gnomAD
CA103806998 rs781544374	344	T>N		No	ClinGen ExAC gnomAD
rs1352821789 CA357926605	345	G>E		No	ClinGen gnomAD
rs1033036917 CA103806999	345	G>R		No	ClinGen Ensembl
rs1403834692 CA357926626	346	D>E		No	ClinGen TOPMed
CA357926631 rs1442197288	347	L>V		No	ClinGen TOPMed gnomAD
rs1395500200 CA357926675	349	D>E		No	ClinGen TOPMed
CA3049375 rs770227975	349	D>H		No	ClinGen ExAC gnomAD
CA357926683 rs1560936419	350	S>N		No	ClinGen Ensembl
rs1560936419 CA357926686	350	S>T		No	ClinGen Ensembl
rs1339709530 CA357926706	351	S>C		No	ClinGen gnomAD
CA3049378 rs749819793	352	L>V		No	ClinGen ExAC TOPMed gnomAD
rs771357243 CA3049380	353	L>F		No	ClinGen ExAC TOPMed gnomAD
CA357926725 rs1560936538	353	L>M		No	ClinGen Ensembl
rs1270344422 CA357926732	353	L>S		No	ClinGen gnomAD
CA357926754 rs1276660431	354	K>N		No	ClinGen gnomAD
rs1222510283 CA357926760	355	T>P		No	ClinGen gnomAD
CA3049381 rs775043949	355	T>R		No	ClinGen ExAC gnomAD
rs965500951 CA103807088	359	H>R		No	ClinGen TOPMed gnomAD
CA103807095 rs975850028	360	K>R		No	ClinGen TOPMed gnomAD
rs772451147 RCV001008338	363	H>missing		No	ClinVar dbSNP
rs1578599298 CA357926973	367	H>L		No	ClinGen Ensembl
rs768343315 CA3049387	372	E>V		No	ClinGen ExAC TOPMed gnomAD
rs931666699 CA103807166	373	V>I		No	ClinGen Ensembl
rs1439916167 CA357927768	380	S>P		No	ClinGen TOPMed
rs765102180 CA3049392	381	K>E		No	ClinGen ExAC gnomAD
CA3049616 rs572590940	382	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746681944 CA3049617	382	S>N		No	ClinGen ExAC gnomAD
rs145790898 CA3049618	383	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs769897611 CA103812325	387	L>V		No	ClinGen TOPMed gnomAD
CA103812332 rs950246805	391	Y>C		No	ClinGen Ensembl
CA3049620 rs776549386	392	L>F		No	ClinGen ExAC gnomAD
CA103812355 rs1045875182	393	A>V		No	ClinGen TOPMed gnomAD
CA357928733 rs1554012902	394	L>I		No	ClinGen Ensembl
rs762926123 CA3049624	396	K>R		No	ClinGen ExAC gnomAD
CA357928784 rs1205351474	398	S>N		No	ClinGen gnomAD
rs766570275 CA357928794	399	M>L		No	ClinGen ExAC TOPMed gnomAD
rs766570275 CA3049625	399	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1560943144 CA357928815	400	A>V		No	ClinGen Ensembl
CA357928823 rs1187339699	401	S>F		No	ClinGen TOPMed gnomAD
rs751585535 CA3049626	401	S>T		No	ClinGen ExAC gnomAD
rs755284502 CA3049629	403	K>E		No	ClinGen ExAC TOPMed gnomAD
RCV000442915 rs750946801	405	T>missing		No	ClinVar dbSNP
rs767610310 CA3049630	405	T>S		No	ClinGen ExAC gnomAD
CA357928886 rs1367669432	406	I>T		No	ClinGen TOPMed gnomAD
rs753142181 CA3049631	406	I>V		No	ClinGen ExAC gnomAD
rs1454058535 CA357928902	408	Q>E		No	ClinGen gnomAD
CA357928982 rs1287998981	414	E>Q		No	ClinGen TOPMed
CA357929004 rs1232976484	415	M>T		No	ClinGen TOPMed
rs756461999 CA3049632	415	M>V		No	ClinGen ExAC gnomAD
rs778066241 CA3049633	416	E>K		No	ClinGen ExAC gnomAD
rs372796504 CA3049635	419	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347079145 CA357929078	420	G>E		No	ClinGen TOPMed gnomAD
rs1400515740 CA357929097	422	P>S		No	ClinGen TOPMed gnomAD
rs1289765312 CA357929111	423	Q>P		No	ClinGen TOPMed
CA357929130 rs1240137765	424	N>K		No	ClinGen gnomAD
CA357929127 rs1321502751	424	N>S		No	ClinGen gnomAD
CA357929122 rs1433339573	424	N>Y		No	ClinGen TOPMed
rs192907075 CA3049636	425	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA103812490 rs906002669	425	T>I		No	ClinGen gnomAD
rs192907075 CA357929133	425	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357929139 rs906002669	425	T>S		No	ClinGen gnomAD
CA357929167 rs1243204754	427	M>I		No	ClinGen gnomAD
CA357929160 rs534168966	427	M>K		No	ClinGen 1000Genomes ExAC gnomAD
CA3049637 rs534168966	427	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1484230924 CA357929182	429	N>H		No	ClinGen gnomAD
CA357929194 rs1560943704	429	N>K		No	ClinGen Ensembl
CA357929186 rs1484230924	429	N>Y		No	ClinGen gnomAD
CA357929197 rs1180046429	430	E>K		No	ClinGen gnomAD
CA357929336 rs751122588	433	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751122588 CA3049658	433	A>S		No	ClinGen ExAC TOPMed gnomAD
CA357929334 rs751122588	433	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3049659 rs754477404	435	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1342856477 CA357929367	436	E>K		No	ClinGen TOPMed gnomAD
CA3049661 rs368177589	437	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3049663 rs149590351	439	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs149590351 CA3049664	439	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3049665 rs771029477	439	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1328317325 CA357929445	441	Q>P		No	ClinGen TOPMed
CA3049670 RCV000926266 rs566256110	446	A>E		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA3049669 RCV000926265 rs550955686	446	A>T		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1429547228 CA357929522	447	T>A		No	ClinGen gnomAD
rs760956381 CA3049671	448	G>E		No	ClinGen ExAC gnomAD
rs754251488 CA3049674	449	P>L		No	ClinGen ExAC gnomAD
rs759497392 CA103813329	450	Q>P		No	ClinGen TOPMed
CA357929559 rs759497392	450	Q>R		No	ClinGen TOPMed
CA3049679 rs202109173	452	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3049678 rs202109173	452	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752239682 CA3049681	455	V>A		No	ClinGen ExAC gnomAD
CA357929615 rs1578629482	455	V>L		No	ClinGen Ensembl
rs1291740135 CA357929636	457	V>E		No	ClinGen gnomAD
rs898290829 CA103813374	457	V>L		No	ClinGen Ensembl
CA357929659 rs1219645038	459	I>V		No	ClinGen gnomAD
CA3049684 rs376555622	463	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3049685 rs770868096	464	P>L		No	ClinGen ExAC TOPMed gnomAD
rs994278662 CA103813407	464	P>T		No	ClinGen TOPMed gnomAD
rs368562372 CA3049687	466	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3049686 rs778708751	466	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3049689 rs144267849	467	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA554062777 rs1388859926	470	Q>QFNT*		No	ClinGen gnomAD
rs1322495199 CA357929795	470	Q>R		No	ClinGen gnomAD
CA357929818 rs1317929502	472	R>Q		No	ClinGen TOPMed gnomAD
rs760724993 CA3049690	472	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1350063779 CA357931099	475	L>S		No	ClinGen gnomAD
CA3049704 rs756863241	476	A>V		No	ClinGen ExAC gnomAD
CA3049706 rs745664250	477	A>T		No	ClinGen ExAC gnomAD
rs908063312 CA103815210	478	I>F		No	ClinGen TOPMed gnomAD
rs1385033451 CA357931182	479	S>*		No	ClinGen TOPMed
CA3049709 rs375611304	482	L>V		No	ClinGen ESP ExAC gnomAD
rs776635993 CA3049711	483	Y>C		No	ClinGen ExAC gnomAD
CA3049710 rs768746321	483	Y>H		No	ClinGen ExAC gnomAD
CA103815235 rs939497545	489	G>R		No	ClinGen TOPMed
rs148722939 CA3049713	490	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1291008973 CA357931514	492	E>A		No	ClinGen gnomAD
rs1308482329 CA357931547	494	H>Y		No	ClinGen gnomAD
CA357931562 rs1456703436	495	A>T		No	ClinGen TOPMed
rs1352102849 CA357931574	496	R>G		No	ClinGen TOPMed gnomAD
rs773496610 CA3049714	499	T>I		No	ClinGen ExAC gnomAD
CA357931629 rs1560950271	499	T>S		No	ClinGen Ensembl
rs1451455809 CA357931692	503	A>T		No	ClinGen gnomAD
rs763343337 CA3049715	505	A>T		No	ClinGen ExAC gnomAD
CA357931730 rs1446100498	506	V>A		No	ClinGen TOPMed
rs766609841 CA3049716	508	N>T		No	ClinGen ExAC gnomAD
rs775018729 CA3049717	509	A>D		No	ClinGen ExAC TOPMed gnomAD
rs775018729 CA3049718	509	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1187394815 CA357931784	510	Y>D		No	ClinGen TOPMed
CA357931807 rs1263744187	511	T>I		No	ClinGen TOPMed
CA357931873 rs764923565	515	K>E		No	ClinGen ExAC TOPMed gnomAD
CA3049722 rs764923565	515	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1484251782 CA357931912	517	H>Y		No	ClinGen gnomAD
rs1203406527 CA357931939	518	C>R		No	ClinGen TOPMed gnomAD
CA103815272 rs1044070452	519	W>R		No	ClinGen Ensembl
rs1249430625 CA357931987	520	K>E		No	ClinGen gnomAD
CA3049724 rs750228758	520	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1200442432 CA357932013	521	L>P		No	ClinGen gnomAD
rs369220092 CA3049726	522	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA357932039 rs1169156956	523	I>F		No	ClinGen gnomAD
rs746962163 CA3049727	525	S>F		No	ClinGen ExAC gnomAD
CA357932265 rs1363037422	529	E>K		No	ClinGen TOPMed
rs1422295652 CA357932311	532	Y>C		No	ClinGen TOPMed
CA357932352 rs1322713718	535	K>E		No	ClinGen gnomAD
rs1247378702 CA357932400	538	V>A		No	ClinGen TOPMed gnomAD
RCV000485984 rs755439936	542	A>missing		No	ClinVar dbSNP
rs202188434 CA3049760	542	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3049761 rs202188434	542	A>G		No	ClinGen ExAC TOPMed gnomAD
rs202188434 CA3049762	542	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1169594830 CA357932471	544	L>R		No	ClinGen TOPMed
rs769360149 CA3049763	545	N>S		No	ClinGen ExAC gnomAD
rs183137563 CA103815889	546	Q>*		No	ClinGen 1000Genomes
CA357932495 rs1463542627	546	Q>L		No	ClinGen gnomAD
CA3049764 rs373823878	548	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1429060702 CA357932512	548	R>W		No	ClinGen TOPMed
rs762734597 CA3049765	549	E>G		No	ClinGen ExAC gnomAD
rs1162393127 CA357932533	550	K>E		No	ClinGen gnomAD
CA357932567 rs1578646740	552	R>T		No	ClinGen Ensembl
rs1461105401 CA357932584	553	G>D		No	ClinGen gnomAD
rs751393896 CA3049767	554	T>A		No	ClinGen ExAC gnomAD
rs1260190511 CA357932613	556	K>E		No	ClinGen gnomAD
rs759357680 CA3049768	556	K>N		No	ClinGen ExAC gnomAD
rs1209716424 CA357933152	558	I>T		No	ClinGen TOPMed
CA103817319 rs201586811	561	A>D		No	ClinGen 1000Genomes
rs1560956820 CA357933212	563	K>E		No	ClinGen Ensembl
CA357933227 rs1172596484	564	I>V		No	ClinGen TOPMed gnomAD
CA3049798 rs767346027	566	L>P		No	ClinGen ExAC gnomAD
rs767346027 CA3049799	566	L>Q		No	ClinGen ExAC gnomAD
rs760720635 CA3049800	568	K>N		No	ClinGen ExAC gnomAD
CA357933295 rs1353582035	570	Q>*		No	ClinGen TOPMed
CA357933322 rs1206982758	572	A>E		No	ClinGen TOPMed gnomAD
CA357933317 rs1483273617	572	A>P		No	ClinGen TOPMed gnomAD
rs1206982758 CA357933326	572	A>V		No	ClinGen TOPMed gnomAD
rs1468779415 CA357933335	573	S>N		No	ClinGen gnomAD
rs1283172356 CA357933340	574	K>E		No	ClinGen TOPMed
rs368130427 CA3049803	575	H>L		No	ClinGen ESP ExAC gnomAD
rs369296762 CA3049805	576	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs369296762 CA103817361	576	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA103817352 rs1021428530	576	I>V		No	ClinGen TOPMed
rs374867509 CA3049806	577	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357933413 rs1430842708	579	S>F		No	ClinGen gnomAD
CA357933445 rs1310211815	581	Y>*		No	ClinGen gnomAD
rs1293684793 CA357933458	582	D>E		No	ClinGen gnomAD
CA357933453 rs1441017843	582	D>G		No	ClinGen gnomAD
CA357933447 rs1352459272	582	D>N		No	ClinGen gnomAD
CA554064885 rs1464759474	583	D>=		No	ClinGen gnomAD
rs1560957160 CA357933460	583	D>R		No	ClinGen Ensembl
rs1369117971 CA357933474	583	D>W		No	ClinGen gnomAD

1 associated diseases with Q4G0J3

[MIM: 615071]: Alazami syndrome (ALAZS)

A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia. {ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:22865833, ECO:0000269|PubMed:26374271, ECO:0000269|PubMed:27766953, ECO:0000269|PubMed:29576627, ECO:0000269|PubMed:29619239, ECO:0000269|PubMed:30006060, ECO:0000269|PubMed:32017898}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia. {ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:22865833, ECO:0000269|PubMed:26374271, ECO:0000269|PubMed:27766953, ECO:0000269|PubMed:29576627, ECO:0000269|PubMed:29619239, ECO:0000269|PubMed:30006060, ECO:0000269|PubMed:32017898}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for Q4G0J3

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	125 - 202	IPR000504
domain	La-type HTH domain	28 - 122	IPR006630
domain	La protein, xRRM domain	450 - 563	IPR014886
domain	LARP7, RNA recognition motif 1	126 - 205	IPR034887
domain	LARP7, RNA recognition motif 2	454 - 535	IPR034910
domain	La-related protein 7, La domain	30 - 111	IPR034946

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
7SK snRNP	A ribonucleoprotein complex that contains the 7SK snRNA. The 7SK snRNP plays a central role in RNA polymerase II elongation control by regulating the availability of active P-TEFb.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
ribonucleoprotein complex	A macromolecular complex that contains both RNA and protein molecules.
small nuclear ribonucleoprotein complex	A ribonucleoprotein complex that contains at least one RNA of the small nuclear RNA (snRNA) class and as well as its associated proteins. These are typically named after the snRNA(s) they contain, e.g. U1 snRNP, U4/U6 snRNP, or 7SK snRNP. Many, of these complexes become part of the spliceosome involved in splicing of nuclear mRNAs. Others are involved in regulation of transcription elongation or 3'-end processing of replication-dependent histone pre-mRNAs.

3 GO annotations of molecular function

Name	Definition
7SK snRNA binding	Binding to a 7SK small nuclear RNA (7SK snRNA).
RNA binding	Binding to an RNA molecule or a portion thereof.
U6 snRNA binding	Binding to a U6 small nuclear RNA (U6 snRNA).

12 GO annotations of biological process

Name	Definition
box C/D RNA 3'-end processing	Any process involved in forming the mature 3' end of a box C/D RNA molecule.
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transcription elongation by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II.
negative regulation of viral transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of viral transcription.
positive regulation of protein localization to Cajal body	Any process that activates or increases the frequency, rate or extent of protein localization to Cajal body.
positive regulation of snRNA transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of snRNA transcription mediated by RNA polymerase II.
regulation of mRNA splicing, via spliceosome	Any process that modulates the frequency, rate or extent of mRNA splicing via a spliceosomal mechanism.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
U6 2'-O-snRNA methylation	The posttranscriptional addition a methyl group to the 2'-oxygen atom of a nucleotide residue in an U6 snRNA molecule.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P05455	SSB	Lupus La protein	Homo sapiens (Human)	PR
Q71RC2	LARP4	La-related protein 4	Homo sapiens (Human)	PR
Q6PKG0	LARP1	La-related protein 1	Homo sapiens (Human)	PR
Q659C4	LARP1B	La-related protein 1B	Homo sapiens (Human)	PR
Q05CL8	Larp7	La-related protein 7	Mus musculus (Mouse)	PR
Q5XI01	Larp7	La-related protein 7	Rattus norvegicus (Rat)	PR
Q93ZV7	LA1	La protein 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
METESGNQEK	VMEEESTEKK	KEVEKKKRSR	VKQVLADIAK	QVDFWFGDAN	LHKDRFLREQ
70	80	90	100	110	120
IEKSRDGYVD	ISLLVSFNKM	KKLTTDGKLI	ARALRSSAVV	ELDLEGTRIR	RKKPLGERPK
130	140	150	160	170	180
DEDERTVYVE	LLPKNVNHSW	IERVFGKCGN	VVYISIPHYK	STGDPKGFAF	VEFETKEQAA
190	200	210	220	230	240
KAIEFLNNPP	EEAPRKPGIF	PKTVKNKPIP	ALRVVEEKKK	KKKKKGRMKK	EDNIQAKEEN
250	260	270	280	290	300
MDTSNTSISK	MKRSRPTSEG	SDIESTEPQK	QCSKKKKKRD	RVEASSLPEV	RTGKRKRSSS
310	320	330	340	350	360
EDAESLAPRS	KVKKIIQKDI	IKEASEASKE	NRDIEISTEE	EKDTGDLKDS	SLLKTKRKHK
370	380	390	400	410	420
KKHKERHKMG	EEVIPLRVLS	KSEWMDLKKE	YLALQKASMA	SLKKTISQIK	SESEMETDSG
430	440	450	460	470	480
VPQNTGMKNE	KTANREECRT	QEKVNATGPQ	FVSGVIVKII	STEPLPGRKQ	VRDTLAAISE
490	500	510	520	530	540
VLYVDLLEGD	TECHARFKTP	EDAQAVINAY	TEINKKHCWK	LEILSGDHEQ	RYWQKILVDR
550	560	570	580
QAKLNQPREK	KRGTEKLITK	AEKIRLAKTQ	QASKHIRFSE	YD