AiPD: Autoinhibited Protein Database

Q9H2J4

Gene name	PDCL3 (PhLP2A, VIAF1)
Protein name	Phosducin-like protein 3
Names	HTPHLP, PhPL3, Viral IAP-associated factor 1, VIAF-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79031
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-120 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-120 (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

7 structures for Q9H2J4

Entry ID	Method	Resolution	Chain	Position	Source
7NVM	EM	310 A	P	1-239	PDB
8I1U	EM	324 A	Q/R	1-239	PDB
8I6J	EM	382 A	Q	1-239	PDB
8I9Q	EM	422 A	Q	1-239	PDB
8I9U	EM	310 A	Q/R	1-239	PDB
8IB8	EM	442 A	Q	1-239	PDB
AF-Q9H2J4-F1	Predicted				AlphaFoldDB

233 variants for Q9H2J4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1207430895 CA347966438	2	Q>H		No	ClinGen gnomAD
CA347966435 rs1329031492	2	Q>P		No	ClinGen gnomAD
CA53111214 rs945388318	4	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1370337871 CA347966466	5	N>D		No	ClinGen gnomAD
CA1803031 rs754558524	5	N>S		No	ClinGen ExAC TOPMed gnomAD
rs752406527 CA1803033	6	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs559546196 CA1803034 COSM329009	7	D>A	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs935953516 CA53111215	8	T>A		No	ClinGen TOPMed gnomAD
CA347966510 rs1345180196	11	N>S		No	ClinGen gnomAD
rs1328380167 CA347966514	12	D>N		No	ClinGen TOPMed
CA347966525 rs1230154007	13	I>N		No	ClinGen gnomAD
CA1803035 rs777385726 COSM1398403	15	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1803036 rs750858703 COSM1398404	15	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs750858703 CA347966539	15	R>L		No	ClinGen ExAC gnomAD
TCGA novel	16	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	17	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	18	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs910392093 CA53111217	18	G>V		No	ClinGen TOPMed
CA1803038 rs115241531	21	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347966580 rs1416485988	22	P>A		No	ClinGen TOPMed
rs148565630 CA1803039	22	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel rs1573278569 CA347966589	23	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1251198295 CA347966594	24	E>K		No	ClinGen gnomAD
rs904409882 COSM1004475 CA53111218	28	E>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA347966631 rs1462024566	29	L>*		No	ClinGen TOPMed
TCGA novel	30	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779261427 CA1803042	31	E>D		No	ClinGen ExAC gnomAD
CA347966648 rs1389722999	31	E>G		No	ClinGen gnomAD
CA53111219 rs901487712	33	A>T		No	ClinGen TOPMed
rs772013497 CA1803044	34	E>G		No	ClinGen ExAC gnomAD
CA53111220 rs1052887136	35	E>D		No	ClinGen Ensembl
rs773372342 CA1803045	35	E>K		No	ClinGen ExAC gnomAD
rs1324547752 CA347966687	37	Q>*		No	ClinGen TOPMed gnomAD
rs1324547752 CA347966686	37	Q>E		No	ClinGen TOPMed gnomAD
CA1803046 rs760479644	37	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1436571125 CA347966694	38	R>C		No	ClinGen TOPMed gnomAD
rs770906319 CA1803047	38	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770906319 CA1803048	38	R>L		No	ClinGen ExAC gnomAD
CA1803050 rs765068042	42	Q>*		No	ClinGen ExAC gnomAD
rs1012618935 CA53111473	46	K>R		No	ClinGen TOPMed gnomAD
CA347966770 rs1433587851	48	Y>C		No	ClinGen gnomAD
CA347966777 rs1558696918	49	E>A		No	ClinGen Ensembl
CA347966787 rs1406596457	50	D>V		No	ClinGen gnomAD
TCGA novel	51	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1803078 rs765647589	51	M>T		No	ClinGen ExAC gnomAD
rs1398387812 CA347966792	51	M>V		No	ClinGen gnomAD
CA1803080 rs545265240	53	L>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1803081 rs565416706	53	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1803082 rs747245164	55	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA53111475 rs966002146	57	E>G		No	ClinGen Ensembl
CA53111476 rs996267300	58	D>E		No	ClinGen Ensembl
CA1803083 rs757331444	60	E>*		No	ClinGen ExAC TOPMed gnomAD
CA347966851 rs757331444	60	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1803085 rs745759200	62	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA347966885 rs1377933977	64	N>S		No	ClinGen TOPMed
CA347966901 rs1485449064	66	E>G		No	ClinGen gnomAD
rs1279460230 CA347966897	66	E>K		No	ClinGen gnomAD
rs1209052370 CA347966907	67	D>N		No	ClinGen gnomAD
CA347966917 rs1200946874	68	E>G		No	ClinGen TOPMed
rs769740237 CA1803087	69	R>C		No	ClinGen ExAC TOPMed gnomAD
rs749100904 CA1803089	69	R>H		No	ClinGen ExAC gnomAD
rs749100904 CA1803090	69	R>P		No	ClinGen ExAC gnomAD
rs769740237 CA1803088	69	R>S		No	ClinGen ExAC TOPMed gnomAD
COSM1172791 rs771420552 CA1803092	71	I>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1262363429 CA347966930	71	I>V		No	ClinGen TOPMed
TCGA novel	72	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347966949 rs1479304074 CA347966951	73	M>I		No	ClinGen gnomAD
CA347966956 rs1173784746	74	Y>C		No	ClinGen gnomAD
rs199816062 CA1803121	75	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763398924 CA347966980	76	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM296617 rs763398924 CA1803123	76	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1803122 rs141145143	76	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1803125 rs751880460	77	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1803124 rs764467465	77	R>W		No	ClinGen ExAC TOPMed gnomAD
CA347966995 rs1210954941	79	L>Q		No	ClinGen gnomAD
rs761953587 CA1803126	80	A>S		No	ClinGen ExAC gnomAD
rs1464197418 CA347967007	81	E>D		No	ClinGen TOPMed
rs767717473 CA1803127	82	W>R		No	ClinGen ExAC gnomAD
rs750706589 CA1803128	84	A>E		No	ClinGen ExAC gnomAD
CA347967030 rs756168195	85	T>A		No	ClinGen ExAC gnomAD
CA347967032 rs1177311831	85	T>I		No	ClinGen TOPMed
CA1803129 rs756168195	85	T>P		No	ClinGen ExAC gnomAD
CA347967079 rs1052117 CA347967078	91	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780151002 CA1803131	91	F>L		No	ClinGen ExAC gnomAD
CA347967082 rs1388591992	92	G>E		No	ClinGen gnomAD
rs754896263 CA1803133	92	G>R		No	ClinGen ExAC TOPMed gnomAD
rs189932200 CA1803135	93	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1803134 rs778713001	93	E>G		No	ClinGen ExAC gnomAD
CA347967085 rs1393581184	93	E>K		No	ClinGen gnomAD
CA1803136 rs772059668	94	V>I		No	ClinGen ExAC gnomAD
CA347967110 COSM1004477 rs1478201625	96	E>D	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs777545241 CA1803137	98	S>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	99	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347967135 rs1342492533	100	K>N		No	ClinGen gnomAD
rs746697936 CA1803138	101	D>N		No	ClinGen ExAC gnomAD
rs748853285 CA53111536	102	Y>C		No	ClinGen Ensembl
TCGA novel	102	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776024741 CA1803140	105	E>D		No	ClinGen ExAC gnomAD
rs1211176778 CA347967178	107	T>A		No	ClinGen gnomAD
CA347967183 rs1483073151	107	T>I		No	ClinGen TOPMed
rs143513425 CA1803142	108	K>N		No	ClinGen ESP ExAC TOPMed
rs143524977 CA1803141	108	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	109	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768148971 CA1803144	110	G>V		No	ClinGen ExAC TOPMed gnomAD
rs750616995 CA1803146 COSM1004478	111	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1188346117 CA347967217	113	L>S		No	ClinGen gnomAD
CA1803147 rs760921432	115	V>D		No	ClinGen ExAC gnomAD
rs766436510 CA1803148	116	I>T		No	ClinGen ExAC gnomAD
CA347967235 rs1318041206	116	I>V		No	ClinGen TOPMed
CA1803152 rs778712307	118	H>D		No	ClinGen ExAC gnomAD
CA347967273 rs1393768794	121	K>R		No	ClinGen TOPMed
rs201629421 CA1803153	122	Q>*		No	ClinGen ESP ExAC gnomAD
rs1378068279 CA347967280	122	Q>R		No	ClinGen TOPMed
rs908264743 CA347967285	123	G>*		No	ClinGen TOPMed
rs146120554 CA1803154	123	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA53111539 rs908264743	123	G>R		No	ClinGen TOPMed
TCGA novel	124	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1803173 rs763921281	125	P>S		No	ClinGen ExAC TOPMed gnomAD
rs751401676 CA1803174	126	L>V		No	ClinGen ExAC TOPMed gnomAD
rs780692375 CA1803176	128	A>D		No	ClinGen ExAC TOPMed gnomAD
CA1803177 rs780692375	128	A>V		No	ClinGen ExAC TOPMed gnomAD
CA347967337 rs1490102413	130	I>T		No	ClinGen TOPMed
rs748608083 CA347967340	131	N>H		No	ClinGen ExAC TOPMed gnomAD
rs748608083 CA1803180	131	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA347967349 rs1558697999	132	Q>*		No	ClinGen Ensembl
rs994270974 CA53111765	133	H>L		No	ClinGen Ensembl
CA1803182 rs772584392	133	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1393447328 CA347967362	134	L>V		No	ClinGen gnomAD
CA1803184 rs370314308	135	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1354371224 CA347967385	137	L>R		No	ClinGen gnomAD
rs1295874731 CA347967390	138	A>V		No	ClinGen TOPMed gnomAD
rs1001697121 CA53111766	139	R>K		No	ClinGen TOPMed gnomAD
CA1803185 rs747370900	141	F>C		No	ClinGen ExAC gnomAD
rs1558698046 CA347967416	142	P>R		No	ClinGen Ensembl
CA1803186 rs771384748	142	P>S		No	ClinGen ExAC gnomAD
CA1803187 rs776685839	143	D>E		No	ClinGen ExAC gnomAD
rs1029723258 CA53111767	144	V>I		No	ClinGen TOPMed gnomAD
CA347967433 rs759832526	145	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1803188 rs759832526	145	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1274905517 CA347967450	147	I>M		No	ClinGen gnomAD
rs765180933 CA1803189	147	I>T		No	ClinGen ExAC gnomAD
CA1803190 rs775722819	149	A>V		No	ClinGen ExAC gnomAD
rs1213102279 CA347967479	152	T>A		No	ClinGen gnomAD
rs1251256507 CA347967488	153	T>I		No	ClinGen TOPMed gnomAD
rs1251256507 COSM3938431 CA347967487	153	T>S	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs762914016 CA1803191	154	C>S		No	ClinGen ExAC TOPMed gnomAD
rs959992194 CA53111768	154	C>S		No	ClinGen TOPMed
rs1419248872 CA347967504	156	P>S		No	ClinGen gnomAD
CA1803193 rs751602117	157	N>S		No	ClinGen ExAC TOPMed gnomAD
CA347967520 rs1261530975	158	Y>F		No	ClinGen TOPMed
CA1803194 rs756976361	159	P>L		No	ClinGen ExAC TOPMed gnomAD
CA347967525 rs1167367950	159	P>S		No	ClinGen gnomAD
CA53111769 rs992478595	160	D>G		No	ClinGen TOPMed gnomAD
CA347967537 rs1261745657	161	R>K		No	ClinGen TOPMed
rs200896946 CA1803195	163	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA1803197 rs755816457	165	T>A		No	ClinGen ExAC gnomAD
rs200163857 CA1803198	165	T>M		No	ClinGen ExAC gnomAD
rs754552157 CA1803200	166	I>T		No	ClinGen ExAC gnomAD
rs748802211 CA1803199	166	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1803201 rs778239867	167	F>S		No	ClinGen ExAC gnomAD
rs374692902 CA1803202	171	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA347967595 rs1326057343	171	E>K		No	ClinGen TOPMed
rs1435456640 CA347967609	173	D>Y		No	ClinGen TOPMed
rs1448884013 CA347967642	177	Q>L		No	ClinGen gnomAD
rs771159358 CA1803203	178	F>S		No	ClinGen ExAC gnomAD
CA1803204 rs781636902	179	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1803205 rs138096442	181	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143476375 CA1803207	182	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1803209 rs768901405	183	V>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	184	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA53111772 rs868199242	186	G>D		No	ClinGen Ensembl
CA1803212 rs757602651	186	G>S		No	ClinGen ExAC gnomAD
CA1803213 rs750248665	187	M>V		No	ClinGen ExAC gnomAD
rs1372141313 CA347967711	188	N>K		No	ClinGen TOPMed
CA53111773 rs1050957750	189	L>P		No	ClinGen TOPMed gnomAD
CA347967727 rs149247434	191	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs754462061 CA1803217	192	D>E		No	ClinGen ExAC gnomAD
CA1803216 rs201530022	192	D>G		No	ClinGen ExAC gnomAD
rs1352771638 CA347967735	193	E>K		No	ClinGen gnomAD
CA347967757 rs1433752389	194	L>W		No	ClinGen gnomAD
CA1803245 rs200281633	195	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1803246 rs144440863	196	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA347967781 rs1328017716	197	K>R		No	ClinGen gnomAD
rs748257999 CA1803249	200	E>A		No	ClinGen ExAC
CA347967812 rs772103548	202	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1803250 rs772103548	202	G>E		No	ClinGen ExAC TOPMed gnomAD
CA1803251 rs773181713	203	A>G		No	ClinGen ExAC gnomAD
CA1803252 rs367787310	204	I>N		No	ClinGen ESP ExAC
rs770674252 CA1803253	205	M>T		No	ClinGen ExAC gnomAD
rs202185256 CA53112428	206	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs905825947 CA347967842	207	D>A		No	ClinGen gnomAD
CA53112429 rs905825947	207	D>V		No	ClinGen gnomAD
CA1803254 rs183470470	208	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs142001795 CA1803255	209	E>G		No	ClinGen ESP ExAC gnomAD
rs1195594425 CA347967856	210	E>K		No	ClinGen gnomAD
rs1573285887 CA347967867	211	N>T		No	ClinGen Ensembl
CA1803256 rs764864661	212	P>S		No	ClinGen ExAC gnomAD
rs762499647 CA1803258	214	K>R		No	ClinGen ExAC gnomAD
CA347967897 rs1453404519	215	P>L		No	ClinGen TOPMed gnomAD
CA347967894 rs1253132478	215	P>S		No	ClinGen gnomAD
CA1803260 rs139282881	216	I>T		No	ClinGen ESP ExAC gnomAD
rs201375611 CA347967921 CA347967920	219	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1803262 rs201375611	219	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754261194 CA1803263	220	L>S		No	ClinGen ExAC TOPMed gnomAD
rs564273207 CA1803265	224	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs888205964 CA53112430	225	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1803267 rs771734941 COSM1398408	225	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199536229 CA1803269	226	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375546662 CA53112431 COSM1004481	226	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs375546662 CA1803270	226	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs776615585 CA1803272	227	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1803271 rs776615585	227	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1273260088 CA347967960	227	S>P		No	ClinGen gnomAD
rs776615585 CA347967962	227	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA1803273 rs769523900	228	V>G		No	ClinGen ExAC gnomAD
CA347967970 rs1204105058	229	L>V		No	ClinGen gnomAD
rs775175170 CA1803274	230	M>L		No	ClinGen ExAC gnomAD
rs1192159130 CA347967988	231	K>N		No	ClinGen gnomAD
CA53112433 rs1055426950	232	R>S		No	ClinGen TOPMed
rs762539540 CA1803275	232	R>T		No	ClinGen ExAC gnomAD
rs1001117958 CA53112432	232	R>W		No	ClinGen TOPMed
CA1803277 rs774014971	233	D>G		No	ClinGen ExAC TOPMed gnomAD
rs763606937 CA1803276	233	D>N		No	ClinGen ExAC gnomAD
rs766992022 CA53112434	234	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1803279 rs766992022	234	S>R		No	ClinGen ExAC TOPMed gnomAD
CA347968006 rs755373995	235	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1803281 rs755373995	235	D>N		No	ClinGen ExAC TOPMed gnomAD
COSM2979860 rs201395644 CA1803283	237	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1803286 rs373289209	239	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1803285 rs777841375	239	D>G		No	ClinGen ExAC gnomAD
rs369835454 CA1803284	239	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA347968038 rs1333360290	240	D>R		No	ClinGen gnomAD
CA347968040 rs1241931414	240	D>S		No	ClinGen TOPMed gnomAD

No associated diseases with Q9H2J4

1 regional properties for Q9H2J4

Type	Name	Position	InterPro Accession
domain	Phosducin, thioredoxin-like domain	32 - 180	IPR024253

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, perinuclear region Endoplasmic reticulum
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
perinucleolar compartment	The perinucleolar compartment (PNC) is a subnuclear structure associated with, but structurally distinct from, the nucleolus. The PNC contains large amounts of the heterogeneous nuclear ribonucleoprotein complex (hnRNP) called hnRNP 1 (PTB). Many RNA binding proteins as well as RNA polymerase III transcripts are highly enriched in this compartment. PTB and pol III transcripts are required for the integrity of the PNC.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

2 GO annotations of molecular function

Name	Definition
protein folding chaperone	Binding to a protein or a protein-containing complex to assist the protein folding process.
vascular endothelial growth factor receptor 2 binding	Binding to a vascular endothelial growth factor receptor 2.

12 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
chaperone-mediated protein folding	The process of inhibiting aggregation and assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure that is dependent on interaction with a chaperone.
negative regulation of chaperone-mediated protein folding	Any process that stops, prevents or reduces the frequency, rate or extent of chaperone-mediated protein folding.
negative regulation of ubiquitin-dependent protein catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin-dependent protein catabolic process.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
protein folding	The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
regulation of peptidyl-tyrosine phosphorylation	Any process that modulates the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q0VCW8	PDCL3	Phosducin-like protein 3	Bos taurus (Bovine)	PR
Q13371	PDCL	Phosducin-like protein	Homo sapiens (Human)	PR
Q8BVF2	Pdcl3	Phosducin-like protein 3	Mus musculus (Mouse)	PR
Q9DBX2	Pdcl	Phosducin-like protein	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MQDPNADTEW	NDILRKKGIL	PPKESLKELE	EEAEEEQRIL	QQSVVKTYED	MTLEELEDHE
70	80	90	100	110	120
DEFNEEDERA	IEMYRRRRLA	EWKATKLKNK	FGEVLEISGK	DYVQEVTKAG	EGLWVILHLY
130	140	150	160	170	180
KQGIPLCALI	NQHLSGLARK	FPDVKFIKAI	STTCIPNYPD	RNLPTIFVYL	EGDIKAQFIG
190	200	210	220	230
PLVFGGMNLT	RDELEWKLSE	SGAIMTDLEE	NPKKPIEDVL	LSSVRRSVLM	KRDSDSEGD