AiPD: Autoinhibited Protein Database

Q7Z7L7

Gene name	ZER1
Protein name	Protein zer-1 homolog
Names	Hzyg, Zyg-11 homolog B-like protein, Zyg11b-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10444
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

270-342 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

270-342 (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 Q7Z7L7

Entry ID	Method	Resolution	Chain	Position	Source
7EP3	X-ray	151 A	A	520-766	PDB
7EP4	X-ray	207 A	A/B	518-766	PDB
7EP5	X-ray	202 A	A/B	518-766	PDB
7XYS	X-ray	170 A	A/B/C/D	518-766	PDB
7XYT	X-ray	150 A	A/B/C/D	518-766	PDB
7XYU	X-ray	270 A	A/B/C/D	520-766	PDB
AF-Q7Z7L7-F1	Predicted				AlphaFoldDB

420 variants for Q7Z7L7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs936495460 CA200409061	2	A>V		No	ClinGen TOPMed gnomAD
rs776999214 CA5269029	4	D>N		No	ClinGen ExAC TOPMed gnomAD
CA375139075 rs1589537110	5	T>P		No	ClinGen Ensembl
rs1307160691 CA375139024	7	E>K		No	ClinGen gnomAD
rs778009651 CA5269026	10	M>T		No	ClinGen ExAC gnomAD
rs949267374 CA200409043	11	A>V		No	ClinGen TOPMed gnomAD
CA375138775 rs1222935406	16	F>L		No	ClinGen TOPMed
rs1564405465 CA375138737	17	C>F		No	ClinGen Ensembl
rs748317657 CA5269024	19	R>C		No	ClinGen ExAC TOPMed gnomAD
rs376259738 CA5269023	19	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345705537 CA375138601	22	D>V		No	ClinGen gnomAD
rs754659041 CA5269022	23	G>A		No	ClinGen ExAC gnomAD
rs1192457302 CA375138515	26	G>D		No	ClinGen gnomAD
rs1184401691 CA375138499	27	Y>C		No	ClinGen gnomAD
CA375138437 rs1470329027	30	D>E		No	ClinGen TOPMed gnomAD
CA200408978 rs200323687	30	D>N		No	ClinGen 1000Genomes gnomAD
CA5269019 rs200442490	31	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749923327 CA5269018	33	T>I		No	ClinGen ExAC gnomAD
CA375138386 rs1589537020	33	T>P		No	ClinGen Ensembl
CA5269016 rs150727016	35	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5269017 rs767096564 COSM1233322	35	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA375138325 rs1307856960	37	H>N		No	ClinGen TOPMed gnomAD
CA375138327 rs1307856960	37	H>Y		No	ClinGen TOPMed gnomAD
COSM203913 CA5269015 rs540575103	38	P>L	large_intestine prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs540575103 CA375138278	38	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571827293 CA5269013	44	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5269011 rs148381372	49	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5269009 COSM1105735 rs773300702	51	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs773300702 CA375138087	51	V>L		No	ClinGen ExAC gnomAD
rs748370793 CA5269007	53	E>A		No	ClinGen ExAC gnomAD
rs558217802 CA5269008	53	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs748370793 CA375138019	53	E>V		No	ClinGen ExAC gnomAD
rs867521035 CA200408191	55	V>L		No	ClinGen gnomAD
rs867521035 CA375137569	55	V>M		No	ClinGen gnomAD
CA375137562 rs1270141593	56	E>K		No	ClinGen gnomAD
rs1199522019 CA375137555	57	L>V		No	ClinGen gnomAD
CA375137542 rs1589535624	59	N>T		No	ClinGen Ensembl
rs768733032 CA5268987	60	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5268986 rs749487850	61	A>S		No	ClinGen ExAC TOPMed gnomAD
CA200408159 rs916617799	62	C>R		No	ClinGen TOPMed
CA375137512 rs1216564384	63	N>K		No	ClinGen TOPMed gnomAD
CA5268984 rs769655810	65	E>K		No	ClinGen ExAC gnomAD
CA375137491 rs1225463347	66	P>L		No	ClinGen gnomAD
TCGA novel	66	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375137484 rs75387317	67	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781260934 CA5268982	68	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201017950 CA5268981	73	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs755971984 CA5268980	75	S>L		No	ClinGen ExAC TOPMed gnomAD
CA375137430 rs1589535570	75	S>P		No	ClinGen Ensembl
rs1589535560 CA375137422	76	D>A		No	ClinGen Ensembl
rs766652996 CA5268977	78	R>C		No	ClinGen ExAC gnomAD
CA5268976 rs766652996	78	R>G		No	ClinGen ExAC gnomAD
CA5268975 rs761019671	78	R>H		No	ClinGen ExAC TOPMed gnomAD
CA375137390 rs1438114252	80	T>I		No	ClinGen gnomAD
rs1197537012 CA375137400	80	T>P		No	ClinGen gnomAD
CA5268973 rs372997150	81	R>C		No	ClinGen ESP ExAC gnomAD
rs761923157 CA5268972	81	R>H		No	ClinGen ExAC TOPMed gnomAD
CA375137360 rs1589535521	83	T>M		No	ClinGen Ensembl
rs369424408 CA5268971	84	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1342767124 CA375137341	85	I>L		No	ClinGen TOPMed gnomAD
CA375137299 rs1337762422	87	L>F		No	ClinGen gnomAD
rs763099735 CA5268968	88	R>C		No	ClinGen ExAC gnomAD
rs769779596 CA5268966	88	R>H		No	ClinGen ExAC gnomAD
rs769779596 CA5268967	88	R>L		No	ClinGen ExAC gnomAD
CA375137223 rs1339083268	91	L>P		No	ClinGen gnomAD
CA375137216 rs1413326433	92	V>L		No	ClinGen TOPMed gnomAD
CA375137218 rs1413326433	92	V>M		No	ClinGen TOPMed gnomAD
CA375137171 rs1329934799	95	Q>K		No	ClinGen TOPMed
rs776749694 CA5268963	99	A>T		No	ClinGen ExAC gnomAD
CA5268962 rs771021525	101	R>C	Variant assessed as Somatic; 0.0001116 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs145688275 CA5268961	101	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145688275 CA200408036	101	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200407874 rs900210514	106	V>M		No	ClinGen TOPMed
rs1247925847 CA375136836	109	Y>H		No	ClinGen TOPMed
TCGA novel	110	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200407870 rs947172364	114	E>K		No	ClinGen TOPMed gnomAD
rs752855006 CA5268931	114	E>V		No	ClinGen ExAC gnomAD
CA375136624 rs1445754986	118	A>T		No	ClinGen TOPMed
CA375136302 rs1564403871	129	H>Y		No	ClinGen Ensembl
rs1316605404 CA375136254	131	L>V		No	ClinGen gnomAD
rs11097 CA200407839	136	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	137	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162081722 CA375136052	143	F>S		No	ClinGen TOPMed
rs773068935 CA5268925	145	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs761619684 CA5268924 CA5268923	148	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1169825202 CA375135902	149	P>S		No	ClinGen gnomAD
TCGA novel	150	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480705300 CA375135863	151	G>S		No	ClinGen gnomAD
rs935566993 CA200407804	153	E>G		No	ClinGen Ensembl
CA375135742 rs1427426515	155	E>K		No	ClinGen gnomAD
rs1589534976 CA375135692	156	Y>S		No	ClinGen Ensembl
CA375135620 rs1486470998	158	V>I		No	ClinGen gnomAD
CA375135626 rs1486470998	158	V>L		No	ClinGen gnomAD
CA375135556 rs1589534955	159	N>T		No	ClinGen Ensembl
CA5268919 rs779677142	168	D>N		No	ClinGen ExAC gnomAD
CA375135284 rs1589534938	170	T>P		No	ClinGen Ensembl
rs1383454483 CA375135271	170	T>S		No	ClinGen TOPMed
rs747367213 CA375135212	172	E>K		No	ClinGen ExAC gnomAD
rs747367213 CA5268917	172	E>Q		No	ClinGen ExAC gnomAD
CA200407725 rs111323369	174	F>L		No	ClinGen Ensembl
rs777957854 CA5268916	175	S>N		No	ClinGen ExAC TOPMed gnomAD
rs758966082 CA5268915	176	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200831532 CA5268914	176	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779134646 CA5268913	178	R>H		No	ClinGen ExAC gnomAD
CA200407715 rs1018871491	181	N>T		No	ClinGen TOPMed
rs372580373 CA200407711	184	R>C		No	ClinGen ESP gnomAD
rs987765387 CA200407708	184	R>H		No	ClinGen TOPMed gnomAD
rs1463056481 CA375134802	186	I>V		No	ClinGen TOPMed
CA5268910 COSM4152088 rs145700775	187	D>H	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA375134621 rs1180787456	190	P>S		No	ClinGen gnomAD
rs1438036199 CA375134587	191	V>M		No	ClinGen gnomAD
CA5268908 rs750266872	196	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA200407692 rs868312646	196	R>W		No	ClinGen TOPMed gnomAD
CA375134370 rs1254716056	197	P>A		No	ClinGen gnomAD
rs1311062072 CA375134284	199	N>S		No	ClinGen gnomAD
TCGA novel	199	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761755630 CA5268906	200	S>F		No	ClinGen ExAC gnomAD
rs761755630 CA375134264	200	S>Y		No	ClinGen ExAC gnomAD
rs1308262721 CA375134233	202	A>T		No	ClinGen gnomAD
CA375134128 rs1362303442	205	D>A		No	ClinGen TOPMed
CA375134127 rs1362303442	205	D>G		No	ClinGen TOPMed
rs774208443 CA5268905	211	T>M		No	ClinGen ExAC TOPMed gnomAD
rs371722260 CA375133859	213	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762438653 CA5268903	213	D>N		No	ClinGen ExAC TOPMed gnomAD
CA375133850 rs1379850271	214	A>P		No	ClinGen gnomAD
rs1379850271 CA375133856	214	A>T		No	ClinGen gnomAD
CA5268899 rs778212361	215	A>T		No	ClinGen ExAC gnomAD
CA375133705 rs1486467735	218	T>I		No	ClinGen gnomAD
CA375133701 rs1218080108	219	Q>*		No	ClinGen gnomAD
rs1351069788 CA375133689	219	Q>H		No	ClinGen gnomAD
rs1284804443 CA375133674	220	W>*		No	ClinGen gnomAD
rs1245279589 CA375133570	223	S>N		No	ClinGen gnomAD
rs140371798 CA5268894	225	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1341053179 CA375133501	226	S>F		No	ClinGen gnomAD
TCGA novel	226	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375133445 rs367859216	228	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5268892 rs367859216	228	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5268890 rs767352532	231	N>S		No	ClinGen ExAC gnomAD
CA200407627 rs892914552	232	M>V		No	ClinGen Ensembl
CA5268888 rs751557556	233	D>E		No	ClinGen ExAC gnomAD
TCGA novel	233	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375133291 rs1367145945	236	D>N		No	ClinGen TOPMed gnomAD
rs578255079 CA200407614	237	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs1195241014 CA375133197	238	H>Y		No	ClinGen gnomAD
CA375133161 rs764594357	240	R>L		No	ClinGen ExAC TOPMed gnomAD
CA200407610 rs764594357	240	R>P		No	ClinGen ExAC TOPMed gnomAD
rs764594357 CA5268884	240	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5268885 rs558393155	240	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA375133157 rs1489249079	241	V>I		No	ClinGen gnomAD
rs1164510836 CA375133109	242	I>T		No	ClinGen gnomAD
rs1263524220 CA375133120	242	I>V		No	ClinGen TOPMed gnomAD
rs759230170 CA375133100	243	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5268883 rs759230170	243	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5268882 rs776139243	246	H>R		No	ClinGen ExAC gnomAD
rs1279965931 CA375133018	246	H>Y		No	ClinGen gnomAD
rs1339991961 CA375132985	247	K>E		No	ClinGen gnomAD
rs766095945 CA375132679	250	H>P		No	ClinGen ExAC gnomAD
CA5268864 rs766095945	250	H>R		No	ClinGen ExAC gnomAD
rs1192663646 CA375132595	253	I>V		No	ClinGen gnomAD
rs1589534201 CA375132578	254	S>P		No	ClinGen Ensembl
CA375132571 rs1589534197	255	R>G		No	ClinGen Ensembl
TCGA novel	255	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1589534189 CA375132553	256	D>A		No	ClinGen Ensembl
CA5268862 rs774881908	257	R>C		No	ClinGen ExAC gnomAD
CA5268861 rs370965484	257	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA375132510 rs1457271665	259	S>C		No	ClinGen gnomAD
rs775860905 CA5268859	266	L>V		No	ClinGen ExAC TOPMed gnomAD
CA375132368 rs745915069	268	R>P		No	ClinGen ExAC TOPMed gnomAD
rs745915069 CA5268857	268	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5268858 rs150107254	268	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA375132299 rs1589534152	272	S>R		No	ClinGen Ensembl
CA5268855 rs201229230	274	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5268854 rs373108962	275	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs777548060 CA5268853	279	G>W		No	ClinGen ExAC gnomAD
rs1336679984 CA375132170	281	L>I		No	ClinGen TOPMed gnomAD
rs1394772623 CA375132019	290	M>V		No	ClinGen gnomAD
rs1399497158 CA375131993	291	I>N		No	ClinGen TOPMed gnomAD
rs1399497158 CA375131990	291	I>T		No	ClinGen TOPMed gnomAD
CA375131948 rs1381707882	295	C>R		No	ClinGen TOPMed gnomAD
rs886688916 CA200407389	295	C>S		No	ClinGen TOPMed
rs1469400221 CA375131926	298	S>P		No	ClinGen gnomAD
rs1237806220 CA375131907	299	K>E		No	ClinGen gnomAD
CA5268851 rs752735075	300	M>I		No	ClinGen ExAC gnomAD
CA375131824 rs1256980485	303	E>K		No	ClinGen gnomAD
COSM1105732 rs1217343112 CA375131799	304	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA375131795 rs1440434438	305	G>E		No	ClinGen TOPMed
rs994807808 CA200407385	306	Q>R		No	ClinGen TOPMed
CA375131784 rs1589534063	307	T>P		No	ClinGen Ensembl
CA5268835 rs566470326	309	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747861543 CA5268834	312	S>C		No	ClinGen ExAC gnomAD
rs750423863 CA5268833	313	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	315	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144368120 CA5268831	316	I>V		No	ClinGen ESP ExAC gnomAD
CA375130154 rs1204420066	318	P>L		No	ClinGen TOPMed gnomAD
rs767209660 CA5268829	320	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	320	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	326	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763416501 CA5268826	327	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	329	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5268824 rs765578209	330	G>R		No	ClinGen ExAC gnomAD
rs1421650589 CA375129699	335	S>A		No	ClinGen TOPMed gnomAD
CA5268822 rs777117339	337	C>G		No	ClinGen ExAC TOPMed
CA5268821 rs771056639	338	R>C		No	ClinGen ExAC gnomAD
CA5268820 rs760718189	338	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1356360862 CA375129582	340	T>M		No	ClinGen TOPMed
rs1259083739 CA375129469	346	K>N		No	ClinGen gnomAD
rs749073113 CA5268797	348	S>G		No	ClinGen ExAC gnomAD
CA5268795 rs769884054	351	K>R		No	ClinGen ExAC gnomAD
CA375129247 rs1371125160	353	E>*		No	ClinGen TOPMed gnomAD
rs1371125160 CA375129245	353	E>K		No	ClinGen TOPMed gnomAD
CA5268794 rs745752525 CA375129163	356	V>L		No	ClinGen ExAC gnomAD
CA5268793 rs780570005	359	A>T		No	ClinGen ExAC gnomAD
rs1034637395 CA200406697	360	I>F		No	ClinGen TOPMed gnomAD
CA375129054 rs1034637395	360	I>V		No	ClinGen TOPMed gnomAD
CA375129030 rs1381088167	361	E>Q		No	ClinGen gnomAD
rs777459129 CA5268790	364	T>M		No	ClinGen ExAC TOPMed gnomAD
rs914269523 CA200406681 CA375128879	365	E>D		No	ClinGen gnomAD
rs763812042 CA5268787	367	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754228946 CA5268788	367	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375128701 rs1589532524	371	T>P		No	ClinGen Ensembl
CA5268783 rs761943849	373	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA375128639 rs1286231914	373	R>W		No	ClinGen gnomAD
CA375128591 rs1314958667	375	I>V		No	ClinGen gnomAD
rs1228883276 CA375128552	376	N>S		No	ClinGen gnomAD
CA375128399 rs1327771576	381	I>V		No	ClinGen TOPMed
rs764346710 CA5268781	382	A>T		No	ClinGen ExAC TOPMed gnomAD
rs868517590 CA200406667	383	R>C		No	ClinGen Ensembl
rs763228963 CA5268780	383	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1363643242 CA375128333	385	E>K		No	ClinGen gnomAD
CA200406649 rs909598717	386	R>C		No	ClinGen TOPMed gnomAD
rs200422039 CA5268778	386	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1185194397 CA375128135	392	R>P		No	ClinGen gnomAD
TCGA novel	392	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263246284 CA375128120	393	A>T		No	ClinGen gnomAD
TCGA novel	395	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375128081 rs1253887044	395	K>Q		No	ClinGen TOPMed
rs937375367 CA200406469	399	T>M		No	ClinGen TOPMed gnomAD
CA375127811 rs1465125881	400	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs760477266 CA5268757 COSM1460327	402	K>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA375127716 rs1210422801	403	C>Y		No	ClinGen TOPMed
rs772788503 CA5268756	410	I>V		No	ClinGen ExAC gnomAD
CA375127298 rs1176396202	417	A>S		No	ClinGen gnomAD
CA375127305 rs1176396202	417	A>T	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA200406450 rs981576365	417	A>V		No	ClinGen TOPMed
TCGA novel	422	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375127047 rs1458168617	425	E>K		No	ClinGen TOPMed gnomAD
rs918458346 CA200406440	427	R>C		No	ClinGen TOPMed gnomAD
CA5268751 rs201349806	427	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1159213988 CA375126901	430	Q>R		No	ClinGen gnomAD
rs781372062 CA5268750	431	S>C		No	ClinGen ExAC gnomAD
CA5268749 rs757806256	431	S>T		No	ClinGen ExAC gnomAD
rs202247358 CA5268746	433	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5268745 rs753016150	435	R>C		No	ClinGen ExAC gnomAD
rs1455575483 CA375126722	435	R>H		No	ClinGen gnomAD
CA5268742 rs199762239	436	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5268744 rs759637272	436	R>W		No	ClinGen ExAC TOPMed gnomAD
CA375126671 rs1232754860	437	Q>H		No	ClinGen TOPMed
rs373713229 CA200406425	437	Q>R		No	ClinGen ESP TOPMed gnomAD
CA5268741 rs766026833	438	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5268738 rs771631005	443	L>M		No	ClinGen ExAC gnomAD
rs1172805777 CA375126216	447	E>D		No	ClinGen gnomAD
CA5268737 rs761293561	449	Y>C		No	ClinGen ExAC gnomAD
CA375126191 rs761293561	449	Y>S		No	ClinGen ExAC gnomAD
rs1391143290 CA375122921	454	V>E		No	ClinGen gnomAD
rs1228198533 CA375122845	456	R>Q		No	ClinGen gnomAD
CA375122850 rs1167076133	456	R>W	Variant assessed as Somatic; 5.089e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375122685 rs1194395695	461	T>M		No	ClinGen gnomAD
CA375122656 rs1243336896	462	L>F		No	ClinGen gnomAD
CA5268707 rs755007423	469	E>G		No	ClinGen ExAC gnomAD
rs1275419827 CA375122433	469	E>K		No	ClinGen gnomAD
CA375122354 rs1372782377	472	E>K		No	ClinGen TOPMed
CA375122352 rs1372782377	472	E>Q		No	ClinGen TOPMed
CA5268706 rs749579949	474	Q>R		No	ClinGen ExAC gnomAD
CA375122244 rs1589523514	475	Y>S		No	ClinGen Ensembl
rs201770268 CA5268704	476	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs750249910 CA5268703	476	R>H		No	ClinGen ExAC gnomAD
rs750249910 CA375122199	476	R>L		No	ClinGen ExAC gnomAD
rs767251280 CA5268702	477	R>Q		No	ClinGen ExAC gnomAD
rs1028384558 CA375122180	477	R>W		No	ClinGen TOPMed gnomAD
rs757203967 CA5268701	479	N>S		No	ClinGen ExAC gnomAD
CA375122111 rs1264917038	480	E>K		No	ClinGen TOPMed
CA375121955 rs1206228671	484	S>G		No	ClinGen TOPMed
rs1249107896 CA375121847	487	N>S		No	ClinGen TOPMed
CA200403089 rs908626349	489	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764825206 CA5268696	490	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775246598 CA5268697	490	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1239273012 CA375121471	497	R>W		No	ClinGen gnomAD
rs762476242 CA5268692	499	A>T		No	ClinGen ExAC gnomAD
rs1348070822 CA375121309	500	V>G		No	ClinGen gnomAD
CA5268690 rs768832521	500	V>M		No	ClinGen ExAC gnomAD
CA375120819 rs1332006060	513	D>H		No	ClinGen gnomAD
rs1332006060 CA375120824	513	D>N		No	ClinGen gnomAD
CA375120756 rs1444271464	514	H>N		No	ClinGen gnomAD
CA200403031 rs867731338	514	H>R		No	ClinGen Ensembl
rs1352899729 CA375120650	516	E>A		No	ClinGen gnomAD
rs780973576 CA5268685	518	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1397063336 CA375120460	521	M>I		No	ClinGen gnomAD
CA375120484 rs1415263785	521	M>L		No	ClinGen gnomAD
CA375120347 rs552493910	525	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5268683 rs552493910	525	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375118859 rs1589522704	526	T>P		No	ClinGen Ensembl
rs753592108 CA5268660	527	M>I		No	ClinGen ExAC gnomAD
CA375118571 rs1414400731	532	Q>*		No	ClinGen gnomAD
rs751892608 CA5268657	536	L>Q		No	ClinGen ExAC gnomAD
CA5268656 rs764461309	537	D>E		No	ClinGen ExAC gnomAD
CA200402749 VAR_060159 rs13299702	539	T>I		No	ClinGen UniProt TOPMed dbSNP
CA375118183 rs13299702	539	T>R		No	ClinGen TOPMed
CA375117849 rs1439642719	542	Q>*		No	ClinGen TOPMed
CA200402656 rs13298980	546	F>L		No	ClinGen Ensembl
rs1389088116 CA375117115	561	N>K		No	ClinGen gnomAD
CA200402652 rs916447598	561	N>S		No	ClinGen TOPMed
rs759983491 CA5268634	563	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1355351728 CA375117006	564	M>I		No	ClinGen TOPMed
CA5268632 rs766375666	567	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5268631 rs372057778	569	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564395378 CA375116780	569	N>S		No	ClinGen Ensembl
CA5268629 rs771809504	570	G>S		No	ClinGen ExAC gnomAD
CA5268628 rs747943052	571	M>L		No	ClinGen ExAC TOPMed gnomAD
CA200402620 rs866749277	573	L>F		No	ClinGen Ensembl
CA200402315 rs911481306	585	Q>H		No	ClinGen TOPMed gnomAD
rs2298043 CA5268604	606	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375114988 rs1353121866	610	T>S		No	ClinGen gnomAD
rs1316082095 CA375114955	611	S>P		No	ClinGen TOPMed
TCGA novel	613	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746594771 CA5268602	614	I>L		No	ClinGen ExAC gnomAD
CA375114818 rs746594771	614	I>V		No	ClinGen ExAC gnomAD
rs779313245 CA5268601	616	V>I		No	ClinGen ExAC gnomAD
rs769804611 CA5268586	619	N>S		No	ClinGen ExAC gnomAD
rs770337862 CA5268583	626	D>N		No	ClinGen ExAC gnomAD
TCGA novel	629	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5268578 rs780231279 COSM1460322	637	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs756660072 CA5268577	638	L>F		No	ClinGen ExAC gnomAD
rs1295809670 CA375113329	642	M>T		No	ClinGen TOPMed
TCGA novel	644	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375113194 rs1449428427	646	P>S		No	ClinGen gnomAD
rs150689943 CA5268573	647	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1233890694 CA375113094	648	A>T		No	ClinGen gnomAD
rs764384961 CA5268572	650	G>S		No	ClinGen ExAC gnomAD
CA5268570 rs201752916	651	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1564394279 CA375112895	652	C>S		No	ClinGen Ensembl
rs1046742 CA200401877	653	E>K		No	ClinGen ExAC gnomAD
rs1046742 CA5268569	653	E>Q		No	ClinGen ExAC gnomAD
COSM3367573 rs886144898 CA375112749	654	P>H	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA200401873 rs886144898	654	P>L		No	ClinGen gnomAD
TCGA novel	656	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5268567 rs776414707	656	R>H		No	ClinGen ExAC TOPMed gnomAD
CA375112426 rs1310497341	661	E>A		No	ClinGen TOPMed
CA375112400 rs1349440835	662	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375112382 rs1329548451	662	R>H		No	ClinGen gnomAD
rs1214790814 CA375112337	663	M>I		No	ClinGen TOPMed
rs765959403 CA5268566	665	A>T		No	ClinGen ExAC TOPMed gnomAD
CA375112236 rs1417578403	666	A>T		No	ClinGen gnomAD
CA375112200 rs1168386862	667	I>S		No	ClinGen gnomAD
rs1455012932 CA375112154	669	S>G		No	ClinGen gnomAD
COSM203911 rs760146636 CA5268565	675	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs946881140 CA200401862	679	N>H		No	ClinGen TOPMed
CA5268544 rs766948699	683	F>L		No	ClinGen ExAC gnomAD
CA375108165 rs1415693551	688	R>C		No	ClinGen TOPMed gnomAD
CA375108160 rs1357586707	688	R>H		No	ClinGen gnomAD
CA200398187 rs771499272	694	I>T		No	ClinGen Ensembl
CA5268542 rs773864411 COSM3779714	696	P>A	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1057018577 CA200398184	696	P>L		No	ClinGen TOPMed
rs773864411 CA375107925	696	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1161932509 CA375107902	697	V>I		No	ClinGen gnomAD
rs770244212 CA5268541	698	S>G		No	ClinGen ExAC gnomAD
rs1407713800 CA375107842	698	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	702	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771591769 CA5268539	703	T>A		No	ClinGen ExAC gnomAD
CA375107619 rs747464280	703	T>I		No	ClinGen ExAC gnomAD
rs747464280 CA5268537	703	T>N	Variant assessed as Somatic; 0.0005562 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771591769 CA5268538	703	T>S		No	ClinGen ExAC gnomAD
CA5268536 rs765095832	705	A>F		No	ClinGen ExAC
rs758535399 CA5268534	707	Y>F		No	ClinGen ExAC gnomAD
CA375107385 rs1326983848	710	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375106693 rs1392263513	714	P>L		No	ClinGen gnomAD
CA375106686 rs1392263513	714	P>R		No	ClinGen gnomAD
rs755186361 CA5268531	714	P>S		No	ClinGen ExAC TOPMed gnomAD
rs991117327 CA200397843	722	I>N		No	ClinGen TOPMed gnomAD
rs1312831137 CA375106279	723	K>R		No	ClinGen TOPMed
rs1354725602 CA375106227	724	E>V		No	ClinGen gnomAD
rs1389259355 CA375106171	725	G>A		No	ClinGen TOPMed gnomAD
rs1389259355 CA375106176	725	G>E		No	ClinGen TOPMed gnomAD
rs1447461006 CA375106200	725	G>R		No	ClinGen gnomAD
rs1244464686	727	M>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5268515 rs772315313	727	M>I		No	ClinGen ExAC gnomAD
rs1377246106 CA375106100	727	M>V		No	ClinGen Ensembl
CA200397840 rs962955558	728	P>L		No	ClinGen TOPMed gnomAD
CA375106049 rs1564389173	728	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1015546053 CA200397838	731	R>G		No	ClinGen Ensembl
rs138395475 CA5268512	732	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779000939 CA5268513	732	D>N		No	ClinGen ExAC gnomAD
CA5268511 rs749459349	733	I>T		No	ClinGen ExAC gnomAD
rs755890202 CA5268509	735	K>N		No	ClinGen ExAC TOPMed gnomAD
rs779891796 CA5268510	735	K>R		No	ClinGen ExAC gnomAD
CA375105733 rs1237227140	736	M>I		No	ClinGen gnomAD
rs750411221 CA5268508	736	M>V		No	ClinGen ExAC TOPMed gnomAD
rs145832178 CA200397830	737	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs145832178 CA5268507	737	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5268505 rs763606517	738	T>I		No	ClinGen ExAC gnomAD
CA5268504 rs763606517	738	T>N		No	ClinGen ExAC gnomAD
rs752380674 CA5268502	739	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5268499 rs773668026	740	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773668026 CA375105546	740	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761086742 CA5268501	740	R>W		No	ClinGen ExAC gnomAD
CA5268497 rs140579362	742	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA200397819 rs946434806	744	K>R		No	ClinGen Ensembl
rs774299730 CA5268496	748	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774299730 CA375105278	748	R>G		No	ClinGen ExAC TOPMed gnomAD
CA200397816 rs148330265	748	R>L		No	ClinGen ESP
CA375104045 rs1160772609	750	V>G		No	ClinGen TOPMed
CA5268481 rs537903136	751	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375104013 rs1457212628	752	E>K		No	ClinGen TOPMed
CA200397342 rs985524715	760	E>K		No	ClinGen gnomAD
rs200870714 CA5268475	762	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs762991896 CA5268476	762	M>T		No	ClinGen ExAC TOPMed gnomAD
rs764130334 CA5268477	762	M>V		No	ClinGen ExAC gnomAD
rs535788342 CA5268474	763	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs776299057 CA5268472 COSM1105726	764	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs376528001 CA200397331	766	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5268470 rs376528001	766	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD

No associated diseases with Q7Z7L7

4 regional properties for Q7Z7L7

Type	Name	Position	InterPro Accession
repeat	Armadillo	427 - 467	IPR000225-1
repeat	Armadillo	511 - 556	IPR000225-2
repeat	Armadillo	558 - 600	IPR000225-3
repeat	Armadillo	602 - 643	IPR000225-4

Functions

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

1 GO annotations of cellular component

Name	Definition
Cul2-RING ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul2 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by an elongin-BC adaptor and a SOCS/BC box protein.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	Any process that activates or increases the frequency, rate or extent of 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.
protein quality control for misfolded or incompletely synthesized proteins	The chemical reactions and pathways resulting in the breakdown of misfolded or attenuated proteins.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q80ZJ6	Zer1	Protein zer-1 homolog	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MASDTPESLM	ALCTDFCLRN	LDGTLGYLLD	KETLRLHPDI	FLPSEICDRL	VNEYVELVNA
70	80	90	100	110	120
ACNFEPHESF	FSLFSDPRST	RLTRIHLRED	LVQDQDLEAI	RKQDLVELYL	TNCEKLSAKS
130	140	150	160	170	180
LQTLRSFSHT	LVSLSLFGCT	NIFYEEENPG	GCEDEYLVNP	TCQVLVKDFT	FEGFSRLRFL
190	200	210	220	230	240
NLGRMIDWVP	VESLLRPLNS	LAALDLSGIQ	TSDAAFLTQW	KDSLVSLVLY	NMDLSDDHIR
250	260	270	280	290	300
VIVQLHKLRH	LDISRDRLSS	YYKFKLTREV	LSLFVQKLGN	LMSLDISGHM	ILENCSISKM
310	320	330	340	350	360
EEEAGQTSIE	PSKSSIIPFR	ALKRPLQFLG	LFENSLCRLT	HIPAYKVSGD	KNEEQVLNAI
370	380	390	400	410	420
EAYTEHRPEI	TSRAINLLFD	IARIERCNQL	LRALKLVITA	LKCHKYDRNI	QVTGSAALFY
430	440	450	460	470	480
LTNSEYRSEQ	SVKLRRQVIQ	VVLNGMESYQ	EVTVQRNCCL	TLCNFSIPEE	LEFQYRRVNE
490	500	510	520	530	540
LLLSILNPTR	QDESIQRIAV	HLCNALVCQV	DNDHKEAVGK	MGFVVTMLKL	IQKKLLDKTC
550	560	570	580	590	600
DQVMEFSWSA	LWNITDETPD	NCEMFLNFNG	MKLFLDCLKE	FPEKQELHRN	MLGLLGNVAE
610	620	630	640	650	660
VKELRPQLMT	SQFISVFSNL	LESKADGIEV	SYNACGVLSH	IMFDGPEAWG	VCEPQREEVE
670	680	690	700	710	720
ERMWAAIQSW	DINSRRNINY	RSFEPILRLL	PQGISPVSQH	WATWALYNLV	SVYPDKYCPL
730	740	750	760
LIKEGGMPLL	RDIIKMATAR	QETKEMARKV	IEHCSNFKEE	NMDTSR