AiPD: Autoinhibited Protein Database

Q8IYB4

Gene name	PEX5L (PEX5R, PXR2)
Protein name	PEX5-related protein
Names	PEX2-related protein, PEX5-like protein, Peroxin-5-related protein, Peroxisome biogenesis factor 5-like, Tetratricopeptide repeat-containing Rab8b-interacting protein, Pex5Rp, TRIP8b
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51555
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

83-159 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

83-159 (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 Q8IYB4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IYB4-F1	Predicted				AlphaFoldDB

375 variants for Q8IYB4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355471486 rs1471093496	4	G>E		No	ClinGen TOPMed gnomAD
CA355471487 rs1471093496	4	G>V		No	ClinGen TOPMed gnomAD
CA355471481 rs1579443143	5	H>P		No	ClinGen Ensembl
CA355471467 rs1456956274	7	Q>K		No	ClinGen TOPMed
CA355471464 rs1380878708	7	Q>P		No	ClinGen gnomAD
rs1332018251 CA355471678	9	S>N		No	ClinGen TOPMed
rs1465776183 CA355471672	10	K>E		No	ClinGen gnomAD
rs1441774795 CA355471663	11	E>*		No	ClinGen TOPMed
rs1560988841 CA355471656	12	Q>E		No	ClinGen Ensembl
CA2714863 rs752775741	13	G>R		No	ClinGen ExAC gnomAD
CA2714860 rs751949345	14	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA88895917 rs991138633	15	G>*		No	ClinGen TOPMed gnomAD
CA88895898 rs891073093	15	G>E		No	ClinGen gnomAD
rs1482951937 CA355471632	16	K>Q		No	ClinGen gnomAD
rs766811023 CA2714859	17	L>Q		No	ClinGen ExAC gnomAD
CA355471617 rs1331325051	18	S>T		No	ClinGen TOPMed
rs750886834 CA2714857	22	D>E		No	ClinGen ExAC gnomAD
rs1192366434 CA355471586	22	D>G		No	ClinGen TOPMed gnomAD
rs374485695 CA88895871 COSM1693839	24	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA88895870 rs1054614925	26	I>T		No	ClinGen gnomAD
rs776048871 CA2714854	26	I>V		No	ClinGen ExAC gnomAD
rs1280747760 CA355471553	27	V>A		No	ClinGen gnomAD
rs760275701 CA2714852	28	D>E		No	ClinGen ExAC TOPMed gnomAD
CA355471551 rs1399025966	28	D>N		No	ClinGen gnomAD
CA2714851 rs775150381	29	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA88895857 rs775150381	29	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA355471542 rs1464391968	29	Q>R		No	ClinGen gnomAD
rs1274387261 CA355296691	33	K>R		No	ClinGen TOPMed
TCGA novel	35	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2714831 rs759369101	36	R>S		No	ClinGen ExAC gnomAD
TCGA novel	37	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2714826 rs768799147	44	M>V		No	ClinGen ExAC TOPMed gnomAD
rs147760601 CA2714825	49	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs991897183 CA88619965	50	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA355296564 rs1189621017	52	E>K		No	ClinGen gnomAD
CA2714823 rs772465642	53	E>Q		No	ClinGen ExAC gnomAD
rs1254795228 CA355296534	56	E>A		No	ClinGen gnomAD
rs779102712 CA2714821	61	L>F		No	ClinGen ExAC gnomAD
CA355296497 rs1258330179	62	T>A		No	ClinGen gnomAD
TCGA novel	65	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757675732 CA2714820	66	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	66	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA88612345 rs377675656	67	L>Q		No	ClinGen ESP TOPMed gnomAD
CA2714798 rs749707862	70	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2714797 rs778245771	71	Q>P		No	ClinGen ExAC gnomAD
rs1172872102 CA355295448	73	E>A		No	ClinGen gnomAD
rs1163264526 CA355295438	74	S>N		No	ClinGen gnomAD
rs1478554721 CA355295424	76	P>H		No	ClinGen gnomAD
CA2714795 rs752179731	79	S>G		No	ClinGen ExAC gnomAD
TCGA novel	80	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2714794 rs780630456	81	S>C		No	ClinGen ExAC TOPMed gnomAD
CA355295387 rs754547679	82	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	83	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2714792 rs751114992	83	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs766115029 CA2714791	84	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1327666097 CA355295360	86	L>P		No	ClinGen TOPMed
CA2714790 rs762653158	90	K>I		No	ClinGen ExAC gnomAD
rs150573100 CA2714788	93	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs962286915 CA88612285	95	A>G		No	ClinGen Ensembl
rs1016562247 CA88612284	96	R>K		No	ClinGen TOPMed gnomAD
COSM1537031 rs1016562247 CA355295296	96	R>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	99	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	99	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	100	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	100	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355295264 rs1360449381	101	N>S		No	ClinGen gnomAD
TCGA novel	102	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334263504 CA355295246	104	V>L		No	ClinGen gnomAD
rs1003305857 CA88605837	106	T>A		No	ClinGen Ensembl
rs758121139 CA2714773	107	T>S		No	ClinGen ExAC gnomAD
CA2714772 rs750125479	108	G>V		No	ClinGen ExAC gnomAD
rs765088091 CA2714771	110	D>E		No	ClinGen ExAC gnomAD
rs377328911 CA88605763	113	D>N		No	ClinGen ESP TOPMed gnomAD
CA355295181 rs377328911	113	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA2714769 rs146278325	115	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1241530775 CA355295164	115	S>R		No	ClinGen gnomAD
CA355295161 rs1243941707	116	E>K		No	ClinGen gnomAD
rs1322277494 CA355295145	118	V>A		No	ClinGen gnomAD
CA2714768 rs764146404	119	S>P		No	ClinGen ExAC TOPMed gnomAD
rs759526934 CA2714767	121	T>N		No	ClinGen ExAC gnomAD
rs199520019 CA2714766	122	Q>P		No	ClinGen 1000Genomes ExAC TOPMed
rs373104708 CA88605715	123	T>N		No	ClinGen ESP TOPMed
CA2714765 rs766485416	125	A>V		No	ClinGen ExAC gnomAD
CA88605680 rs141810700	126	K>R		No	ClinGen ESP
TCGA novel	132	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355295016 rs1226346749	138	K>M		No	ClinGen gnomAD
rs1560513923 CA355295012	139	K>E		No	ClinGen Ensembl
CA355295008 rs1349711721	139	K>R		No	ClinGen gnomAD
CA355294999 rs1306238746	140	K>N		No	ClinGen TOPMed
CA355295001 rs1308247609	140	K>R		No	ClinGen TOPMed gnomAD
CA355295002 rs1308247609	140	K>T		No	ClinGen TOPMed gnomAD
CA355294997 rs1411331150	141	A>T		No	ClinGen TOPMed gnomAD
CA2714763 rs773452829	142	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	143	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866279524 CA88605650	143	G>E		No	ClinGen Ensembl
CA355294983 rs1334355142	143	G>R		No	ClinGen TOPMed
CA355294975 rs1310982967	144	S>C		No	ClinGen gnomAD
TCGA novel	147	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2714761 rs777000912	149	T>K		No	ClinGen ExAC TOPMed gnomAD
rs777000912 CA2714760	149	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs888061625 CA88605627	150	D>E		No	ClinGen Ensembl
rs533645184 CA2714758	150	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA2714757 rs779565333	150	D>V		No	ClinGen ExAC gnomAD
CA355294930 rs1253143432	151	A>G		No	ClinGen TOPMed
CA355294887 rs1560513158	157	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs758009954 CA88605613	159	R>G		No	ClinGen ExAC TOPMed gnomAD
CA88605605 rs200628771	160	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA2714755 COSM295920 rs745444119	161	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1175244778 CA355294860	162	E>A		No	ClinGen gnomAD
TCGA novel	162	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376209700 CA2714753	163	T>S		No	ClinGen ESP ExAC gnomAD
CA355294831 rs1351028053	167	D>H		No	ClinGen TOPMed
rs1329020281 CA355294503	171	Q>P		No	ClinGen gnomAD
CA355294497 rs1390023879	172	T>A		No	ClinGen TOPMed
rs1175382504 CA355294493	172	T>I		No	ClinGen TOPMed gnomAD
rs115203074 CA355294486 CA2714732	173	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1378264073 CA355294492	173	Q>K		No	ClinGen TOPMed
CA355294488 rs1242995670	173	Q>R		No	ClinGen TOPMed
rs752614682 CA2714731	175	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781120885 CA2714730	177	W>L		No	ClinGen ExAC gnomAD
CA88601701 rs868122676	177	W>R		No	ClinGen TOPMed gnomAD
rs200030031 CA355294453	178	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs868690439 CA88601659	178	D>N		No	ClinGen Ensembl
rs746551798 CA2714728	179	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355294437 rs1262173818	181	K>Q		No	ClinGen gnomAD
TCGA novel	181	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355294419 rs904482387	183	H>L		No	ClinGen TOPMed gnomAD
rs904482387 CA88601623	183	H>R		No	ClinGen TOPMed gnomAD
CA2714726 rs765421857	184	G>R		No	ClinGen ExAC
CA2714725 rs762044188	185	D>N		No	ClinGen ExAC gnomAD
COSM1041626 rs764449119 CA2714724	186	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2714722 COSM1421089 rs143237596	186	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs149599855 CA2714721	188	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1383319404 CA355294392	188	T>P		No	ClinGen TOPMed
CA355294383 rs1553873811	189	K>R		No	ClinGen Ensembl
rs563775981 CA88601586	191	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs772777522 CA2714720	191	H>Y		No	ClinGen ExAC gnomAD
CA355294357 rs1402262830	193	M>T		No	ClinGen gnomAD
CA355294360 rs1468030868	193	M>V		No	ClinGen gnomAD
CA88601580 rs998334358	195	E>K		No	ClinGen TOPMed
CA355294328 rs1168289704	197	K>R		No	ClinGen gnomAD
rs1461387388 CA355294321	198	S>L		No	ClinGen gnomAD
CA88601566 rs1056948962	199	S>T		No	ClinGen gnomAD
rs1297927890 CA355294315	199	S>Y		No	ClinGen TOPMed
rs1423929825 CA355294313	200	S>T		No	ClinGen gnomAD
CA2714717 rs150462854	201	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388326970 CA355294305	201	S>P		No	ClinGen gnomAD
CA355294294 rs1160417391	203	T>A		No	ClinGen gnomAD
CA2714716 rs141772500	203	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs777297402 CA2714715 COSM1327701	204	G>E	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA355294275 rs1196775111	206	K>T		No	ClinGen gnomAD
CA355294263 rs1339247752	208	L>I		No	ClinGen gnomAD
CA2714697 rs769371057	211	S>F		No	ClinGen ExAC gnomAD
CA2714696 rs747951488	212	S>L		No	ClinGen ExAC gnomAD
TCGA novel	213	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355294198 rs1297125897	215	R>S		No	ClinGen TOPMed
TCGA novel	216	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17857101 CA88600530	216	S>P		No	ClinGen Ensembl
CA88600537 rs17857101	216	S>T		No	ClinGen Ensembl
CA355294181 rs1345483997	218	P>L		No	ClinGen TOPMed
CA2714695 rs768469747	218	P>S		No	ClinGen ExAC gnomAD
CA2714694 rs768469747	218	P>T		No	ClinGen ExAC gnomAD
CA355294176 rs1255047780	219	E>G		No	ClinGen gnomAD
CA355294164 rs1577906936	221	S>N		No	ClinGen Ensembl
rs746878874 CA2714693	225	S>N		No	ClinGen ExAC TOPMed gnomAD
CA2714691 rs146906651	226	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs146906651 CA2714690 COSM32337 VAR_035865	226	A>T	lung Variant assessed as Somatic; 0.0 impact. large_intestine a colorectal cancer sample; somatic mutation [Cosmic, NCI-TCGA, UniProt]	No	ClinGen cosmic curated UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs570257219 CA2714689	228	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355294092 rs1433482372	229	S>C		No	ClinGen gnomAD
rs1239605937 CA355294074	230	E>D		No	ClinGen TOPMed
rs767955588 CA2714686	231	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2714684 rs142589999	232	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs142589999 CA88600405	232	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2714683 rs766854155	232	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1422309997 CA355293997	236	E>A		No	ClinGen Ensembl
CA2714682 rs778369528	240	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	241	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380337327 CA355297952	243	A>V		No	ClinGen TOPMed
rs761323916 CA2714659	244	R>*		No	ClinGen ExAC gnomAD
rs151155435 CA2714658	244	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs151155435 CA355297947	244	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2714657 rs151155435	244	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2714656 rs775202219	245	L>V		No	ClinGen ExAC TOPMed gnomAD
CA355297899 rs1412095096	248	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	249	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	249	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759355045 CA2714653 COSM1693838	250	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs188814073 CA2714652 COSM1421087	250	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA355297872 rs1248574977	251	W>R		No	ClinGen gnomAD
rs769706589 CA355297834	253	S>R		No	ClinGen ExAC TOPMed gnomAD
rs201578066 CA2714650	254	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2714648 rs371147854	256	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA355297803 rs1230369138	256	L>R		No	ClinGen TOPMed
CA2714647 rs747255910	260	H>Y		No	ClinGen ExAC gnomAD
rs1206397651 CA355297680	266	F>C		No	ClinGen gnomAD
TCGA novel	269	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355297623 rs1440470200	271	A>T		No	ClinGen gnomAD
CA355297614 rs1186393147	271	A>V		No	ClinGen Ensembl
CA355297592 rs1212294039	274	E>A		No	ClinGen gnomAD
CA355294797 rs1374575457	276	D>H		No	ClinGen gnomAD
CA2714629 rs543376215	277	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA88595537 rs867405439	278	E>K		No	ClinGen Ensembl
rs1210498185 CA355294726	285	A>S		No	ClinGen TOPMed
CA88595504 rs866170332	287	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2714626 rs772308105	287	W>R		No	ClinGen ExAC gnomAD
CA2714623 rs139529181	292	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs28682295 CA2714625	292	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	293	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567285591 CA88595488	293	R>M		No	ClinGen Ensembl
rs1560226087 CA355294661	294	N>K		No	ClinGen Ensembl
CA88595487 rs1024804352	296	I>M		No	ClinGen TOPMed gnomAD
rs755628106 CA88595486	298	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2714620 rs755628106	298	E>V		No	ClinGen ExAC TOPMed gnomAD
CA88595471 rs1053276211	300	Q>E		No	ClinGen TOPMed gnomAD
CA355294623 rs1053276211	300	Q>K		No	ClinGen TOPMed gnomAD
rs1486408321 CA355294609	302	A>T		No	ClinGen TOPMed gnomAD
rs1489674914 CA355294591	304	N>S		No	ClinGen gnomAD
CA2714616 rs146230186	306	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2714615 rs146230186	306	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762942704 CA2714614	307	T>P		No	ClinGen ExAC gnomAD
CA2714613 rs773285845	308	I>M		No	ClinGen ExAC gnomAD
CA355294566 rs1306686564	308	I>T		No	ClinGen TOPMed gnomAD
rs369361167 CA2714612 COSM322605	309	S>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs772376904 CA2714609	311	S>G		No	ClinGen ExAC gnomAD
CA88595410 rs985145336	312	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2714587 rs537734879	316	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA2714586 rs771230299	318	H>D		No	ClinGen ExAC gnomAD
CA355294061 rs771230299	318	H>Y		No	ClinGen ExAC gnomAD
rs1283434124 CA355294043	319	T>I		No	ClinGen TOPMed
CA355294016 rs1244086779	321	N>K		No	ClinGen gnomAD
CA355293973 rs1343470795	324	K>N		No	ClinGen gnomAD
rs139969025 CA2714585	324	K>R		No	ClinGen ESP ExAC gnomAD
CA355293962 rs1253639474	325	D>V		No	ClinGen gnomAD
CA2714583 rs770375002	326	W>L		No	ClinGen ExAC gnomAD
CA2714584 rs770375002	326	W>S		No	ClinGen ExAC gnomAD
rs1307047943 CA355293898	330	F>Y		No	ClinGen gnomAD
rs150624644 CA2714582	331	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs780705295 CA2714581	335	K>E		No	ClinGen ExAC gnomAD
TCGA novel	336	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs890081379 CA88592632	336	R>K		No	ClinGen TOPMed gnomAD
CA2714580 rs754450499	336	R>S		No	ClinGen ExAC gnomAD
CA2714579 rs746601794	339	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	344	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	345	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750280821 CA2714576	347	L>V		No	ClinGen ExAC gnomAD
TCGA novel	356	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180962771 CA355293724	356	D>V		No	ClinGen gnomAD
CA2714575 rs778969108	357	P>S		No	ClinGen ExAC gnomAD
CA355293658 rs1472522359	364	Q>R		No	ClinGen TOPMed gnomAD
CA2714559 rs141827659	365	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355293652 rs141827659	365	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1037600090 CA88590206	365	F>V		No	ClinGen Ensembl
CA88590197 rs111623921	366	L>P		No	ClinGen Ensembl
CA2714557 rs745535792	367	G>R		No	ClinGen ExAC gnomAD
CA355293637 rs1208219978	368	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	371	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1473429281 CA355293599	373	N>S		No	ClinGen Ensembl
CA88590149 rs979357869	378	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	380	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355293552 rs1238130062	380	I>V		No	ClinGen TOPMed gnomAD
CA2714552 rs755050060	382	A>T		No	ClinGen ExAC gnomAD
TCGA novel	383	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148078737 CA2714522	385	R>S		No	ClinGen ESP ExAC gnomAD
CA355293206 rs756094376	386	C>F		No	ClinGen ExAC gnomAD
CA2714521 rs777738884	386	C>G		No	ClinGen ExAC
rs756094376 CA2714520	386	C>Y		No	ClinGen ExAC gnomAD
rs11716852 CA88588840	388	E>K		No	ClinGen gnomAD
CA355293187 rs11716852	388	E>Q		No	ClinGen gnomAD
rs1242904708 CA355293159	390	Q>*		No	ClinGen gnomAD
rs748106955 CA2714519	391	P>R		No	ClinGen ExAC gnomAD
rs1400868305 CA355293128	392	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	393	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2714518 rs780069829	394	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2714517 rs758479696	396	A>V		No	ClinGen ExAC gnomAD
rs750643589 CA2714516	403	S>N		No	ClinGen ExAC gnomAD
rs1429491083 CA355292967	406	N>S		No	ClinGen TOPMed
CA355292959 rs1339551082	407	T>S		No	ClinGen TOPMed gnomAD
CA2714513 rs754203314	416	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2714511 rs761221414	419	N>Y		No	ClinGen ExAC gnomAD
rs1560177204 CA355292872	420	W>R		No	ClinGen Ensembl
CA2714510 rs776141764	421	I>M		No	ClinGen ExAC
rs767081923 CA2714509	425	P>T		No	ClinGen ExAC gnomAD
CA355292822 rs1168068933	426	K>N		No	ClinGen gnomAD
rs770533815 CA2714506	429	Y>C		No	ClinGen ExAC gnomAD
rs144740421 CA2714505	431	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1282119466 CA355292782	432	K>R		No	ClinGen TOPMed
CA2714504 rs772834456	436	G>E		No	ClinGen ExAC TOPMed gnomAD
CA355292746 rs1216669633	437	S>Y		No	ClinGen TOPMed
CA355292738 rs1262499043	438	P>L		No	ClinGen TOPMed
rs373824178 CA2714503	439	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA88588778 rs1056608865	439	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA88588774 rs765930710	442	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1273222797 CA355292721	442	R>Q		No	ClinGen TOPMed gnomAD
rs765930710 CA2714500	442	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201842132 CA355292716	443	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201842132 CA355292717	443	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1041619 rs201842132 CA2714498	443	R>Q	endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs745973382 CA2714499	443	R>W		No	ClinGen ExAC gnomAD
rs1315392125 CA355292691	447	S>P		No	ClinGen TOPMed gnomAD
rs1159218426 CA355292681	448	P>L		No	ClinGen TOPMed
CA88588750 rs902209451	449	V>F		No	ClinGen TOPMed gnomAD
CA2714481 rs768629793	455	E>D		No	ClinGen ExAC gnomAD
CA2714479 rs778814738	456	G>A		No	ClinGen ExAC gnomAD
CA2714480 rs746988925	456	G>W		No	ClinGen ExAC gnomAD
CA355292615 rs1577127080	457	V>G		No	ClinGen Ensembl
CA2714478 rs143065282	457	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778202286 CA2714476	458	K>E		No	ClinGen ExAC TOPMed gnomAD
CA355292578 rs1560169986	463	E>Q		No	ClinGen Ensembl
TCGA novel	464	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA88588045 rs938377430	465	A>V		No	ClinGen TOPMed
rs753157132 CA2714474	466	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA355292545 rs1404389118	468	N>H		No	ClinGen TOPMed
CA88588040 rs937988965	469	G>R		No	ClinGen TOPMed
CA2714473 rs146752960	470	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2714472 rs755391861	471	M>I		No	ClinGen ExAC gnomAD
rs1361399419 CA355292516	472	I>V		No	ClinGen TOPMed
rs17853563 CA88588019	474	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs752138553 CA2714471	481	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1362959377 CA355292416	487	S>R		No	ClinGen gnomAD
rs1487286014 CA355292391	491	N>D		No	ClinGen gnomAD
rs368029000 CA2714470	492	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs762540092 CA2714469	492	R>T		No	ClinGen ExAC
CA355292353 rs1330315477	496	A>V		No	ClinGen gnomAD
CA2714467 rs764907805	499	A>T		No	ClinGen ExAC gnomAD
CA355292317 rs1302046332	502	T>A		No	ClinGen gnomAD
rs62291566 CA88587967	503	V>F		No	ClinGen gnomAD
rs764747944 CA2714450	508	Y>H		No	ClinGen ExAC gnomAD
rs990179349 CA88587717	509	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA355292244 TCGA novel rs1560166909	511	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs1577120264 CA355292249	511	W>G		No	ClinGen Ensembl
CA355292239 rs1577120142	512	N>T		No	ClinGen Ensembl
CA355292232 rs1202434696	513	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA355292180 rs1446887075	521	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA88587680 rs201063859	522	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs763107364 CA2714443	523	R>H		No	ClinGen ExAC gnomAD
rs773381607 CA2714442	525	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1253107380 CA355292136	528	V>M		No	ClinGen gnomAD
CA355292107 rs1479712203	532	T>A		No	ClinGen TOPMed
rs1295756129 CA355292098	533	R>L		No	ClinGen gnomAD
rs1358032423 CA355292088	535	L>P		No	ClinGen TOPMed
TCGA novel	540	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355292034 COSM149521 rs1281055236	543	R>Q	large_intestine stomach [Cosmic]	No	ClinGen cosmic curated gnomAD
rs768890726 CA2714438	548	L>P		No	ClinGen ExAC gnomAD
rs867110295 CA88587559	549	G>E		No	ClinGen Ensembl
rs1236591383 CA355291998 COSM136388	549	G>R	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs780402186 CA2714436	553	I>F		No	ClinGen ExAC TOPMed gnomAD
CA355291964 rs1368305584	554	N>D		No	ClinGen gnomAD
TCGA novel	557	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	561	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355291881 rs1386945342	562	V>I		No	ClinGen gnomAD
CA2714423 rs765351674	567	T>A		No	ClinGen ExAC gnomAD
rs1414813368 CA355291827	570	S>R		No	ClinGen TOPMed gnomAD
rs776716250 CA2714421	574	K>R		No	ClinGen ExAC TOPMed gnomAD
CA88584165 rs911256468	577	N>S		No	ClinGen TOPMed
CA355291751 rs1577066492	580	Q>*		No	ClinGen Ensembl
rs768969769 CA2714420	581	V>F		No	ClinGen ExAC gnomAD
CA355291731 rs1201712662	583	H>R		No	ClinGen gnomAD
rs540781431 CA2714419	583	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA355291705 rs1560139016	587	S>C		No	ClinGen Ensembl
rs779450043 CA2714415	591	W>C		No	ClinGen ExAC TOPMed gnomAD
COSM1041615 CA355291653 rs1422031757	595	R>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA355291638 rs934435742	597	A>G		No	ClinGen TOPMed gnomAD
rs748838973 CA2714413	597	A>T		No	ClinGen ExAC gnomAD
CA88584117 rs934435742	597	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs767276690 CA2714407	603	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	609	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560344222 CA88584070	609	A>V	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1478430388 CA355291535	610	A>S		No	ClinGen gnomAD
rs753905201 CA2714402	611	N>H		No	ClinGen ExAC TOPMed gnomAD
CA355291505 rs1196946004	612	L>R		No	ClinGen gnomAD
TCGA novel	615	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	616	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	618	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	626	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q8IYB4

5 regional properties for Q8IYB4

Type	Name	Position	InterPro Accession
repeat	Tetratricopeptide repeat	360 - 393	IPR019734-1
repeat	Tetratricopeptide repeat	394 - 427	IPR019734-2
repeat	Tetratricopeptide repeat	474 - 507	IPR019734-3
repeat	Tetratricopeptide repeat	508 - 541	IPR019734-4
repeat	Tetratricopeptide repeat	542 - 575	IPR019734-5

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Membrane ; Peripheral membrane protein	Some fraction is membrane associated via its interaction with RAB8B
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
peroxisomal membrane	The lipid bilayer surrounding a peroxisome.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

4 GO annotations of molecular function

Name	Definition
intracellular cyclic nucleotide activated cation channel activity	Enables the transmembrane transfer of a cation by a channel that opens when intracellular cyclic nucleotide has been bound by the channel complex or one of its constituent parts.
peroxisome matrix targeting signal-1 binding	Binding to a type 1 peroxisome targeting signal, a tripeptide with the consensus sequence (S/A/C)-(K/R/H)-L.
peroxisome targeting sequence binding	Binding to a peroxisomal targeting sequence, a sequence of amino acids within a protein that acts as a signal for the localization of a protein into the peroxisome.
small GTPase binding	Binding to a small monomeric GTPase.

2 GO annotations of biological process

Name	Definition
protein import into peroxisome matrix, docking	The process in which a complex formed of a peroxisome targeting sequence (PTS) receptor bound to a PTS-bearing protein docks with translocation machinery in the peroxisomal membrane.
regulation of cAMP-mediated signaling	Any process which modulates the frequency, rate or extent of cAMP-mediated signaling.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MYQGHMQKSK	EQGYGKLSSD	EDLEIIVDQK	QGKGSRAADK	AVAMVMKEIP	REESAEEKPL
70	80	90	100	110	120
LTMTSQLVNE	QQESRPLLSP	SIDDFLCETK	SEAIARPVTS	NTAVLTTGLD	LLDLSEPVSQ
130	140	150	160	170	180
TQTKAKKSEP	SSKTSSLKKK	ADGSDLISTD	AEQRGQPLRV	PETSSLDLDI	QTQLEKWDDV
190	200	210	220	230	240
KFHGDRNTKG	HPMAERKSSS	SRTGSKELLW	SSEHRSQPEL	SGGKSALNSE	SASELELVAP
250	260	270	280	290	300
TQARLTKEHR	WGSALLSRNH	SLEEEFERAK	AAVESDTEFW	DKMQAEWEEM	ARRNWISENQ
310	320	330	340	350	360
EAQNQVTISA	SEKGYYFHTE	NPFKDWPGAF	EEGLKRLKEG	DLPVTILFME	AAILQDPGDA
370	380	390	400	410	420
EAWQFLGITQ	AENENEQAAI	VALQRCLELQ	PNNLKALMAL	AVSYTNTGHQ	QDACDALKNW
430	440	450	460	470	480
IKQNPKYKYL	VKSKKGSPGL	TRRMSKSPVD	SSVLEGVKEL	YLEAAHQNGD	MIDPDLQTGL
490	500	510	520	530	540
GVLFHLSGEF	NRAIDAFNAA	LTVRPEDYSL	WNRLGATLAN	GDRSEEAVEA	YTRALEIQPG
550	560	570	580	590	600
FIRSRYNLGI	SCINLGAYRE	AVSNFLTALS	LQRKSRNQQQ	VPHPAISGNI	WAALRIALSL
610	620
MDQPELFQAA	NLGDLDVLLR	AFNLDP