AiPD: Autoinhibited Protein Database

Q9H7D7

Gene name	WDR26 (CDW2, MIP2, PRO0852)
Protein name	WD repeat-containing protein 26
Names	CUL4- and DDB1-associated WDR protein 2, Myocardial ischemic preconditioning up-regulated protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80232
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-152 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-152 (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

1 structures for Q9H7D7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H7D7-F1	Predicted				AlphaFoldDB

241 variants for Q9H7D7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000190242 CA204303 rs796052210	20	G>E	Long QT syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1553364018 RCV000578316	25	G>missing	Intellectual disability, seizures, abnormal gait and distinctive facial features [ClinVar]	Yes	ClinVar dbSNP
VAR_079297	46	S>del	SKDEAS [UniProt]	Yes	UniProt
rs1572227260 RCV001027701	52	D>missing	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001281448 rs202137376	65	S>F	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001266109 rs1674500220	70	N>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA344752366 RCV000734553 RCV002535384 rs1558450796	89	S>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_079298	172	W>R	SKDEAS; unknown pathological significance [UniProt]	Yes	UniProt
CA204057 RCV000190124 rs796052140	204	L>F	Long QT syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_079299	215	L>P	SKDEAS; unknown pathological significance [UniProt]	Yes	UniProt
RCV001332600 rs1674157739	246	N>H	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1674157422 RCV001332601	249	R>C	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinVar dbSNP
CA344750951 RCV000497307 VAR_079300 rs150512167	254	S>R	Skraban-Deardorff syndrome SKDEAS; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000850385 CA1415081 rs774272467	279	R>Q	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_079301	279	R>del	SKDEAS; unknown pathological significance [UniProt]	Yes	UniProt
VAR_079302 CA344750173 RCV000498483 rs1553359384	284	D>N	Skraban-Deardorff syndrome SKDEAS; unknown pathological significance; slightly decreased protein expression; [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1553359034 RCV000497929	302	Q>missing	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001198028 rs1673963487	339	S>R	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000498337 rs1553354980	389	H>missing	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinVar dbSNP
CA1415005 RCV001262819 rs374760855	390	L>V	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA344748771 rs1553354956 RCV000515498	409	W>G	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553354952 RCV000515492 CA344748739	413	D>N	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000497821 CA344748653 rs1553354926	426	E>*	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_079303	426	E>del	SKDEAS [UniProt]	Yes	UniProt
VAR_079304	428	W>del	SKDEAS [UniProt]	Yes	UniProt
RCV000986558 rs1572168244 CA344747858	465	G>V	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000498946 rs1553353378	486	V>missing	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001266044 rs528360727	504	D>E	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001263021 rs1673333616	510	R>Q	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1553353230 CA344747007 RCV000622642	524	Q>E	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_079305	524	Q>del	SKDEAS [UniProt]	Yes	UniProt
CA1414896 RCV001291662 rs760399308	539	R>Q	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000624089 rs1553353206	541	A>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000986557 rs1572163072	558	R>missing	Skraban-Deardorff syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001267154 rs1673192650	598	W>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000623249 rs1553350638	656	C>F	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1202357269 CA344752890	6	A>T		No	ClinGen gnomAD
rs931277491 CA38747692	7	G>R		No	ClinGen Ensembl
rs918621245 CA38747669	8	G>E		No	ClinGen TOPMed gnomAD
rs1277314355 CA344752869	9	G>E		No	ClinGen gnomAD
rs1356083197 CA344752847	13	G>D		No	ClinGen TOPMed gnomAD
rs964228171 CA38747640	16	G>D		No	ClinGen TOPMed gnomAD
RCV000521137 rs1553364049	19	G>missing		No	ClinVar dbSNP
CA344752811 rs1428791552	19	G>E		No	ClinGen gnomAD
rs1372393710 CA344752793	22	G>A		No	ClinGen gnomAD
CA344752797 rs1408015204	22	G>S		No	ClinGen gnomAD
rs1404594922 CA344752788	23	G>A		No	ClinGen gnomAD
CA344752775 rs1275528696	25	G>A		No	ClinGen gnomAD
CA344752779 rs1388280427	25	G>S		No	ClinGen TOPMed gnomAD
CA1415194 rs576106391	27	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1415195 rs543483118	27	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344752750 rs1179404418	29	T>N		No	ClinGen TOPMed gnomAD
CA344752742 rs1220669734	30	P>L		No	ClinGen TOPMed gnomAD
CA344752422 rs1172621570	80	V>F		No	ClinGen TOPMed gnomAD
rs751120206 CA38747378	81	P>L		No	ClinGen TOPMed gnomAD
CA344752397 rs1436874561	84	A>S		No	ClinGen gnomAD
rs1436874561 CA344752399	84	A>T		No	ClinGen gnomAD
CA344752379 rs1332019893	87	A>S		No	ClinGen TOPMed
rs1345350680 CA344752371	88	S>C		No	ClinGen TOPMed gnomAD
rs1345350680 CA344752370	88	S>F		No	ClinGen TOPMed gnomAD
rs1412249432 CA344752368	89	S>P		No	ClinGen gnomAD
CA344752356 rs1196319273	91	T>A		No	ClinGen TOPMed gnomAD
rs375450160 CA1415183	92	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA344752349 rs1455017521	92	V>F		No	ClinGen TOPMed gnomAD
rs1455017521 CA344752351	92	V>I		No	ClinGen TOPMed gnomAD
rs764280917 CA1415182	93	A>S		No	ClinGen ExAC gnomAD
CA344752341 rs1242858499	94	A>T		No	ClinGen gnomAD
rs866512812 CA38747369	95	A>V		No	ClinGen gnomAD
rs1196548584 CA344752325	96	S>F		No	ClinGen TOPMed
CA38747351 rs986623079	98	T>I		No	ClinGen TOPMed
rs1341324843 CA344752308	99	T>I		No	ClinGen gnomAD
rs1230273106 CA344752299	101	A>S		No	ClinGen gnomAD
rs765417177 CA1415179	102	S>A		No	ClinGen ExAC gnomAD
rs1447788167 CA344752289	103	S>P		No	ClinGen TOPMed
CA344752280 rs972169252	104	S>C		No	ClinGen TOPMed gnomAD
CA38747326 rs972169252	104	S>F		No	ClinGen TOPMed gnomAD
rs1407423971 CA344752273	105	L>F		No	ClinGen TOPMed
rs1312904919 CA344752267	106	A>D		No	ClinGen gnomAD
CA344752270 rs1360367760	106	A>P		No	ClinGen gnomAD
CA344752261 rs1340507993	107	T>I		No	ClinGen gnomAD
rs963719048 CA38747324	108	P>L		No	ClinGen TOPMed
rs1390027083 CA344752260	108	P>T		No	ClinGen gnomAD
RCV000599198 rs1553363770	109	E>missing		No	ClinVar dbSNP
rs1167113368 CA344752250	109	E>V		No	ClinGen TOPMed gnomAD
CA1415178 rs759791719	110	L>V		No	ClinGen ExAC gnomAD
CA344752239 rs1420569879	111	G>D		No	ClinGen gnomAD
rs1471878000 CA344752236	112	S>G		No	ClinGen gnomAD
rs887635852 CA38747312	118	K>Q		No	ClinGen gnomAD
rs1016228867 CA344752147	119	R>G		No	ClinGen TOPMed
rs1016228867 CA38747294	119	R>W		No	ClinGen TOPMed
RCV001268221 rs1674488084	122	Q>missing		No	ClinVar dbSNP
CA344752049 rs1272378398	126	D>V		No	ClinGen gnomAD
rs1358040136 CA344752055	126	D>Y		No	ClinGen TOPMed
CA344752042 rs1207779125	127	V>I		No	ClinGen TOPMed
rs1035932243 CA38747289	135	L>F		No	ClinGen TOPMed
CA38747284 rs1003065767	138	L>I		No	ClinGen TOPMed
rs1318114179 CA344751723	144	V>A		No	ClinGen gnomAD
RCV001310902 rs1674398801	147	L>missing		No	ClinVar dbSNP
rs1674398736 RCV001268256	147	L>missing		No	ClinVar dbSNP
rs751563177 CA1415161	148	M>L		No	ClinGen ExAC gnomAD
CA344751698 rs1430966537	148	M>R		No	ClinGen TOPMed
rs777811129 CA1415160	149	Q>E		No	ClinGen ExAC gnomAD
CA344751663 rs1326943804	153	C>Y		No	ClinGen gnomAD
rs1434690264 CA344751656	154	R>H		No	ClinGen gnomAD
CA344751638 rs1271635337	157	H>N		No	ClinGen TOPMed
rs758378838 CA1415159	160	A>G		No	ClinGen ExAC gnomAD
CA344751612 rs1337184670	161	T>A		No	ClinGen TOPMed
rs752873055 CA1415158	165	N>Y		No	ClinGen ExAC gnomAD
rs1377063710 CA344751575	166	H>R		No	ClinGen gnomAD
rs1382884065 CA344751483	177	N>D		No	ClinGen gnomAD
rs762291346 CA1415149	180	N>S		No	ClinGen ExAC gnomAD
rs1436537188 CA344751431	184	P>L		No	ClinGen TOPMed gnomAD
rs1572219630 CA344751423	185	L>F		No	ClinGen Ensembl
rs769278442 CA1415147	187	H>R		No	ClinGen ExAC gnomAD
rs1374476195 CA344751403	188	S>F		No	ClinGen gnomAD
CA38745520 rs957895720	189	P>L		No	ClinGen TOPMed gnomAD
rs1193425894 CA344751402	189	P>T		No	ClinGen gnomAD
rs1033546569 CA38745516	190	H>R		No	ClinGen TOPMed
rs745516556 CA1415146	192	I>V		No	ClinGen ExAC TOPMed gnomAD
CA38745499 rs1000204906	193	V>G		No	ClinGen TOPMed gnomAD
CA344751358 rs1319814094	196	G>S		No	ClinGen TOPMed
rs183553993 CA344751353	197	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183553993 CA1415145	197	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1157586259 CA344751350	197	A>V		No	ClinGen gnomAD
rs1558447909 CA344751348	198	L>V		No	ClinGen Ensembl
CA344751314 rs369202299	203	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1415144 rs369202299	203	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA344751300 rs1439616777	205	L>W		No	ClinGen TOPMed gnomAD
CA344751289 rs1292668221	207	I>V		No	ClinGen TOPMed
rs767879170 CA1415110	222	E>K		No	ClinGen ExAC gnomAD
rs1339617030 CA344751110	230	L>P		No	ClinGen gnomAD
CA344751112 rs921233431	230	L>V		No	ClinGen TOPMed
rs755768760 CA38740031	234	Q>H		No	ClinGen Ensembl
rs764701147 CA1415107	237	R>H		No	ClinGen ExAC gnomAD
CA1415106 rs763345794	238	C>R		No	ClinGen ExAC
rs1401923084 CA344751038	241	T>M		No	ClinGen gnomAD
rs1417677519 CA344751032	242	P>L		No	ClinGen Ensembl
CA344751014 rs1454182239	245	Y>C		No	ClinGen gnomAD
rs1195820359 CA344751001	247	T>A		No	ClinGen gnomAD
CA1415102 rs772952060	249	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1241734020 CA344750980	250	I>T		No	ClinGen gnomAD
CA1415101 rs772025206	252	V>I		No	ClinGen ExAC gnomAD
CA344750358 rs1484657903	256	Y>C		No	ClinGen gnomAD
rs148488238 CA344750311	262	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs148488238 CA1415086	262	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA38736562 rs763172974	266	R>C		No	ClinGen TOPMed gnomAD
rs1270565121 CA344750287	266	R>H		No	ClinGen gnomAD
CA38736560 rs1015822328	267	A>S		No	ClinGen Ensembl
rs749923365 CA1415084	268	K>E		No	ClinGen ExAC TOPMed gnomAD
CA344750265 rs1283108301	270	E>Q		No	ClinGen gnomAD
rs1412373178 CA344750249	272	E>K		No	ClinGen gnomAD
CA344750169 rs1394909079	284	D>G		No	ClinGen Ensembl
CA38736537 rs139095966	285	K>E		No	ClinGen ESP
rs1168721651 CA344750156	286	L>F		No	ClinGen gnomAD
CA344750065 rs762612563	298	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1415060 rs762612563	298	P>S		No	ClinGen ExAC TOPMed gnomAD
RCV001192909 rs1673967254	299	R>Q		No	ClinVar dbSNP
rs1487324984 CA344750060	299	R>W		No	ClinGen TOPMed gnomAD
CA344750053 rs1211461362	300	R>H		No	ClinGen gnomAD
rs1237631386 CA344750028	304	L>V		No	ClinGen gnomAD
CA1415057 rs565415424	306	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA38735992 rs374705168	306	R>W		No	ClinGen ESP TOPMed gnomAD
CA38735990 rs879188103	308	A>G		No	ClinGen TOPMed
CA344750003 rs879188103	308	A>V		No	ClinGen TOPMed
rs77585756 CA1415053	309	V>G		No	ClinGen ExAC gnomAD
rs747277437 CA1415054	309	V>L		No	ClinGen ExAC gnomAD
rs77704730 CA1415052	310	E>G		No	ClinGen ExAC gnomAD
CA38735967 rs751806966	314	D>E		No	ClinGen Ensembl
CA38735968 rs200825616	314	D>G		No	ClinGen Ensembl
CA1415050 rs779410378	315	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1415051 rs748574222	315	R>W		No	ClinGen ExAC gnomAD
CA344749960 rs1572198722	316	C>G		No	ClinGen Ensembl
rs1419548298 CA344749940	319	H>Y		No	ClinGen gnomAD
rs1553358993 RCV000657565	320	N>missing		No	ClinVar dbSNP
CA344749929 rs1195700829	320	N>S		No	ClinGen Ensembl
rs1191437387 CA344749919	321	T>I		No	ClinGen gnomAD
CA1415047 rs780772533	323	L>F		No	ClinGen ExAC TOPMed gnomAD
CA344749897 rs1204107757	325	N>D		No	ClinGen gnomAD
CA344749880 rs1259533296	327	L>I		No	ClinGen gnomAD
CA344749861 rs1218598409	330	V>L		No	ClinGen gnomAD
rs1232536898 CA344749799	339	S>N		No	ClinGen gnomAD
RCV001009141 rs1572186477 CA915942044	341	R>S*		No	ClinGen ClinVar Ensembl dbSNP
rs565451895 CA1415034	342	Q>E		No	ClinGen 1000Genomes ExAC
CA344749656 rs1572186457	345	C>R		No	ClinGen Ensembl
rs772242874 CA1415032	346	Y>H		No	ClinGen ExAC gnomAD
CA1415030 rs376889814	347	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344749617 rs1274044100	348	Q>R		No	ClinGen TOPMed
rs1476360646 CA344749598	349	Q>H		No	ClinGen TOPMed gnomAD
rs532004418 CA1415028	352	T>M		No	ClinGen 1000Genomes ExAC
rs1340196603 CA344749469	360	F>C		No	ClinGen TOPMed
rs746547913 CA1415025	364	S>A		No	ClinGen ExAC gnomAD
CA344749405 rs777322811	366	D>H		No	ClinGen ExAC TOPMed gnomAD
rs777322811 CA1415024	366	D>N		No	ClinGen ExAC TOPMed gnomAD
CA344749378 rs1572186326	368	T>S		No	ClinGen Ensembl
CA38731702 rs370744931	374	S>A		No	ClinGen ESP TOPMed
CA344749286 rs1253285571	377	T>S		No	ClinGen gnomAD
rs201360491 CA344749215	383	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1415022 rs752279779	386	P>L		No	ClinGen ExAC TOPMed gnomAD
CA344749183 rs752279779	386	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1391750598 CA344748908	387	D>G		No	ClinGen TOPMed gnomAD
rs1405439056 CA344748903	388	T>A		No	ClinGen gnomAD
rs746383579 CA1415007	388	T>I		No	ClinGen ExAC gnomAD
CA1415006 rs777154233	389	H>Y		No	ClinGen ExAC gnomAD
CA344748874 rs1412417236	393	L>V		No	ClinGen TOPMed
rs868748710 CA38725466	394	L>F		No	ClinGen Ensembl
CA38725462 rs770629681	398	E>G		No	ClinGen Ensembl
CA344748826 rs1400824530	400	H>Q		No	ClinGen TOPMed
CA1415004 rs747828855	400	H>R		No	ClinGen ExAC
rs933720635 CA38725428	404	V>I		No	ClinGen TOPMed
CA344748776 rs1445664986	408	A>S		No	ClinGen TOPMed
rs756007505 CA1414999	413	D>G		No	ClinGen ExAC gnomAD
CA1414998 rs750314023	414	N>S		No	ClinGen ExAC gnomAD
CA1414997 rs767723808	415	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs767723808 CA344748724 RCV000994264	415	Y>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1414995 rs751661839	423	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1368415771 CA344748664	424	C>Y		No	ClinGen gnomAD
rs764462736 CA1414994	425	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1414993 rs763225660	426	E>D		No	ClinGen ExAC gnomAD
CA344748569 rs1324415501	433	Q>E		No	ClinGen TOPMed gnomAD
rs376840056 CA1414974	434	T>I		No	ClinGen ESP ExAC gnomAD
rs752907046 CA1414972	438	R>K		No	ClinGen ExAC gnomAD
CA1414971 rs765543739	439	T>K		No	ClinGen ExAC gnomAD
CA1414970 rs759985685	440	K>T		No	ClinGen ExAC gnomAD
rs1478823493 CA344748049	441	M>I		No	ClinGen gnomAD
CA1414969 rs776957669	445	H>R		No	ClinGen ExAC gnomAD
CA1414967 rs761164671	446	E>G		No	ClinGen ExAC gnomAD
rs773853402 CA1414966	447	D>G		No	ClinGen ExAC gnomAD
CA344748008 rs1487584765	447	D>Y		No	ClinGen Ensembl
CA344748000 rs1471460135	448	S>N		No	ClinGen TOPMed
CA1414963 rs775164829	453	A>G		No	ClinGen ExAC TOPMed gnomAD
rs748912714 CA1414964	453	A>T		No	ClinGen ExAC gnomAD
CA344747916 rs1233218533	460	R>H		No	ClinGen gnomAD
CA344747844 rs1354054063	467	R>C		No	ClinGen gnomAD
rs1309047906 CA344747842	467	R>H		No	ClinGen gnomAD
CA1414960 rs781123513	471	Y>C		No	ClinGen ExAC gnomAD
RCV001281534 rs1265462349	499	T>I		No	ClinVar dbSNP
CA344746961 rs1316172731	530	M>L		No	ClinGen gnomAD
CA1414898 rs753369214	530	M>T		No	ClinGen ExAC gnomAD
rs1673323181 RCV001268450	537	N>missing		No	ClinVar dbSNP
rs762877427 RCV001310901	555	L>V		No	ClinVar dbSNP
RCV001267965 rs1673189476	635	D>G		No	ClinVar dbSNP

1 associated diseases with Q9H7D7

[MIM: 617616]: Skraban-Deardorff syndrome (SKDEAS)

An autosomal dominant syndrome characterized by psychomotor developmental delay, intellectual disability with delayed speech, febrile and non-febrile seizures, abnormal gait, and facial dysmorphism. Facial features include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip. {ECO:0000269|PubMed:28686853}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant syndrome characterized by psychomotor developmental delay, intellectual disability with delayed speech, febrile and non-febrile seizures, abnormal gait, and facial dysmorphism. Facial features include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip. {ECO:0000269|PubMed:28686853}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for Q9H7D7

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	344 - 392	IPR001680-1
repeat	WD40 repeat	390 - 431	IPR001680-2
repeat	WD40 repeat	434 - 474	IPR001680-3
repeat	WD40 repeat	557 - 599	IPR001680-4
repeat	WD40 repeat	602 - 642	IPR001680-5
domain	LIS1 homology motif	123 - 155	IPR006594
domain	CTLH, C-terminal LisH motif	156 - 231	IPR006595

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus Mitochondrion
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.
GID complex	A protein complex with ubiquitin ligase activity that is involved in proteasomal degradation of fructose-1,6-bisphosphatase (FBPase) and phosphoenolpyruvate carboxykinase during the transition from gluconeogenic to glycolytic growth conditions. In S. cerevisiae, the GID (Glucose Induced degradation Deficient) complex consists of Vid30p, Rmd5p, Vid24p, Vid28p, Gid7p, Gid8p, and Fyv10p.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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.
ubiquitin ligase complex	A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8C6G8	Wdr26	WD repeat-containing protein 26	Mus musculus (Mouse)	PR
Q28D01	wdr26	WD repeat-containing protein 26	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q5SP67	wdr26	WD repeat-containing protein 26	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MQANGAGGGG	GGGGGGGGGG	GGGGGQGQTP	ELACLSAQNG	ESSPSSSSSA	GDLAHANGLL
70	80	90	100	110	120
PSAPSAASNN	SNSLNVNNGV	PGGAAAASSA	TVAAASATTA	ASSSLATPEL	GSSLKKKKRL
130	140	150	160	170	180
SQSDEDVIRL	IGQHLNGLGL	NQTVDLLMQE	SGCRLEHPSA	TKFRNHVMEG	DWDKAENDLN
190	200	210	220	230	240
ELKPLVHSPH	AIVVRGALEI	SQTLLGIIVR	MKFLLLQQKY	LEYLEDGKVL	EALQVLRCEL
250	260	270	280	290	300
TPLKYNTERI	HVLSGYLMCS	HAEDLRAKAE	WEGKGTASRS	KLLDKLQTYL	PPSVMLPPRR
310	320	330	340	350	360
LQTLLRQAVE	LQRDRCLYHN	TKLDNNLDSV	SLLIDHVCSR	RQFPCYTQQI	LTEHCNEVWF
370	380	390	400	410	420
CKFSNDGTKL	ATGSKDTTVI	IWQVDPDTHL	LKLLKTLEGH	AYGVSYIAWS	PDDNYLVACG
430	440	450	460	470	480
PDDCSELWLW	NVQTGELRTK	MSQSHEDSLT	SVAWNPDGKR	FVTGGQRGQF	YQCDLDGNLL
490	500	510	520	530	540
DSWEGVRVQC	LWCLSDGKTV	LASDTHQRIR	GYNFEDLTDR	NIVQEDHPIM	SFTISKNGRL
550	560	570	580	590	600
ALLNVATQGV	HLWDLQDRVL	VRKYQGVTQG	FYTIHSCFGG	HNEDFIASGS	EDHKVYIWHK
610	620	630	640	650	660
RSELPIAELT	GHTRTVNCVS	WNPQIPSMMA	SASDDGTVRI	WGPAPFIDHQ	NIEEECSSMD

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