AiPD: Autoinhibited Protein Database

Q9BV29

Gene name	CCDC32
Protein name	Coiled-coil domain-containing protein 32
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:90416
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-78 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-78 (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 Q9BV29

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BV29-F1	Predicted				AlphaFoldDB

133 variants for Q9BV29

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1890756020 RCV001270247	10	T>missing	Cardiofacioneurodevelopmental syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001270248 rs1890742129	55	E>missing	Cardiofacioneurodevelopmental syndrome [ClinVar]	Yes	ClinVar dbSNP
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_034743 rs10152546 CA7481870	2	K>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1327622272 CA391725705	2	K>N		No	ClinGen gnomAD
CA391725697 rs1566986778	3	M>I		No	ClinGen Ensembl
CA391725698 rs1566986784	3	M>R		No	ClinGen Ensembl
CA7481869 rs780383111	4	F>I		No	ClinGen ExAC gnomAD
CA391725694 rs780383111	4	F>L		No	ClinGen ExAC gnomAD
CA7481868 rs369168610	5	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs779240446 COSM216342 CA7481866	7	A>T	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs202227935 CA7481863	9	S>C		No	ClinGen ExAC TOPMed gnomAD
rs202227935 CA391725657	9	S>F		No	ClinGen ExAC TOPMed gnomAD
rs757833173 CA7481865	9	S>P		No	ClinGen ExAC gnomAD
rs202227935 CA7481864	9	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA391725655 rs1431169552	10	T>A		No	ClinGen TOPMed
CA7481862 rs756280285	10	T>I		No	ClinGen ExAC TOPMed gnomAD
CA391725656 rs1431169552	10	T>P		No	ClinGen TOPMed
rs752914099 CA7481861	11	A>S		No	ClinGen ExAC gnomAD
rs752914099 CA391725650	11	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7481860 rs767859364	12	T>A		No	ClinGen ExAC TOPMed gnomAD
rs200355814 CA7481859	15	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391725628 rs200355814	15	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751419929 CA7481858	16	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA391725620 rs1430622149	16	Q>R		No	ClinGen TOPMed
rs762359213 CA7481857	18	L>F		No	ClinGen ExAC TOPMed gnomAD
rs762359213 CA391725608	18	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1481986488 CA391725600	19	W>*		No	ClinGen gnomAD
CA391725593 rs1356160181	20	A>T		No	ClinGen gnomAD
CA268801363 rs1031629537	27	P>S		No	ClinGen TOPMed
rs1370183803 CA391725527	30	E>K		No	ClinGen TOPMed
rs994054919 CA268801346	33	D>N		No	ClinGen TOPMed
CA268801328 rs11556250	38	A>S		No	ClinGen Ensembl
rs1264181852 CA391725466	38	A>V		No	ClinGen TOPMed gnomAD
rs1341080538 CA391725448	41	D>H		No	ClinGen gnomAD
CA7481852 rs761324085	45	D>H		No	ClinGen ExAC gnomAD
TCGA novel	46	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391725403 rs1294510333	47	C>F		No	ClinGen gnomAD
rs1287110008 CA391725384	50	G>D		No	ClinGen gnomAD
CA7481851 rs776198212	50	G>S		No	ClinGen ExAC gnomAD
CA7481849 rs746210517	51	E>G		No	ClinGen ExAC gnomAD
rs768320803 CA7481850	51	E>K		No	ClinGen ExAC gnomAD
CA268801274 rs11556251	53	Q>K		No	ClinGen Ensembl
CA7481848 rs140115092	54	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1398932585 CA391725357	54	R>S		No	ClinGen gnomAD
rs1248348916 CA391725361	54	R>W		No	ClinGen TOPMed
rs1198390405 CA391725354	55	E>A		No	ClinGen TOPMed
rs771339067 CA391725356	55	E>K		No	ClinGen ExAC gnomAD
rs771339067 CA7481847	55	E>Q		No	ClinGen ExAC gnomAD
rs1198390405 CA391725352	55	E>V		No	ClinGen TOPMed
rs769258794 CA268801203	56	V>G		No	ClinGen Ensembl
rs778160537 CA7481845	61	V>F		No	ClinGen ExAC gnomAD
rs146673104 CA268801179	62	Q>R		No	ClinGen ESP TOPMed
CA7481844 rs143250246	63	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250751352 CA391725259	67	P>A		No	ClinGen gnomAD
rs1324810673 CA391725221	69	A>D		No	ClinGen TOPMed
CA7481841 rs781513524	73	D>E		No	ClinGen ExAC TOPMed gnomAD
rs752858870 CA7481842	73	D>G		No	ClinGen ExAC gnomAD
rs755298282 CA7481840	76	V>A		No	ClinGen ExAC gnomAD
rs111377329 CA268801116	76	V>M		No	ClinGen TOPMed gnomAD
CA7481838 rs766260823	77	Y>C		No	ClinGen ExAC gnomAD
CA268801095 rs1006554904	78	L>V		No	ClinGen Ensembl
rs1160117772 CA391725090	79	A>V		No	ClinGen TOPMed gnomAD
CA391725078 rs1327739695	80	S>F		No	ClinGen gnomAD
CA391724043 rs1595893215	84	K>*		No	ClinGen Ensembl
CA7481819 rs372911877	84	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs765137910 CA7481817	85	L>P		No	ClinGen ExAC gnomAD
CA268797801 rs1030135371	85	L>V		No	ClinGen TOPMed gnomAD
rs947002027 CA268797794	87	R>*		No	ClinGen TOPMed
rs757226415 CA7481816	90	G>S		No	ClinGen ExAC gnomAD
CA391723995 rs1422712993	92	N>H		No	ClinGen gnomAD
rs1595893180 CA391723983	93	Q>R		No	ClinGen Ensembl
rs1171814249 CA391723974	94	E>V		No	ClinGen gnomAD
rs1454407748 CA391723969	95	V>L		No	ClinGen gnomAD
rs1199913658 CA391723953	98	K>Q		No	ClinGen gnomAD
COSM1152822 CA7481815 rs764342494 COSM961223	99	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs764342494 CA391723944	99	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs763654069 CA7481814	100	M>V		No	ClinGen ExAC gnomAD
rs1451366732 COSM256450 CA391723315	102	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM1372666 COSM1372667 rs139886034 CA7481813	102	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs767111647 CA7481811	106	Q>H		No	ClinGen ExAC gnomAD
rs1217055738 CA391723143	106	Q>R		No	ClinGen gnomAD
CA268797770 rs897128402	108	K>R		No	ClinGen TOPMed
rs1211093536 CA391723078	109	K>R		No	ClinGen TOPMed
CA7481809 rs773494748	111	C>G		No	ClinGen ExAC gnomAD
CA391722970 rs367681812	114	R>G		No	ClinGen ESP TOPMed gnomAD
CA391722964 rs374675270	114	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7481808 rs374675270	114	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs367681812 CA268797760	114	R>W		No	ClinGen ESP TOPMed gnomAD
TCGA novel	117	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391722822 rs1242617137	121	A>G		No	ClinGen TOPMed
rs748729377 CA7481806	124	F>L		No	ClinGen ExAC gnomAD
CA7481805 rs776835090	124	F>Y		No	ClinGen ExAC gnomAD
CA391722747 rs1333235090	125	F>S		No	ClinGen gnomAD
CA391722730 rs1435144346	126	V>A		No	ClinGen gnomAD
CA391722672 rs1184564985	129	L>P		No	ClinGen TOPMed
CA7481804 rs768796967	129	L>V		No	ClinGen ExAC gnomAD
CA391722596 rs1448509833	133	E>D		No	ClinGen gnomAD
CA7481802 rs780282292	134	S>G		No	ClinGen ExAC gnomAD
rs1187790620 CA391722586	134	S>T		No	ClinGen gnomAD
rs200019387 CA7481786	135	T>A		No	ClinGen ExAC gnomAD
CA391722287 rs1184114560	140	K>E		No	ClinGen TOPMed
CA391722277 rs1405481606	140	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs146363483 CA7481785	142	W>*		No	ClinGen ESP ExAC gnomAD
rs1272635455 CA391722240	143	L>F		No	ClinGen TOPMed gnomAD
CA391722235 rs1233749207	143	L>P		No	ClinGen gnomAD
rs1336890167 CA391722202	146	D>H		No	ClinGen gnomAD
CA391722175 rs1158640133	147	K>N		No	ClinGen TOPMed
CA391722160 rs1286207100	148	V>A		No	ClinGen gnomAD
TCGA novel	148	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374535041 CA7481783	150	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA268796606 rs952793925	152	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA391722010 rs1433869278	159	I>F		No	ClinGen gnomAD
CA7481781 rs779122680	160	P>L		No	ClinGen ExAC gnomAD
COSM1708013 rs1462379116 CA391721890 COSM1708014	165	V>A	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7481780 rs770649660	165	V>I		No	ClinGen ExAC gnomAD
rs749115633 CA7481779	166	E>K		No	ClinGen ExAC gnomAD
rs1455690871 CA391721855	167	K>Q		No	ClinGen gnomAD
CA391721834 rs1157355185	168	P>T		No	ClinGen gnomAD
TCGA novel	169	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268796600 rs996659577	171	E>K		No	ClinGen TOPMed gnomAD
rs187392024 CA7481777	172	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148786916 COSM1587813 CA7481775 COSM961222	173	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs766132737 CA7481772	177	G>R		No	ClinGen ExAC TOPMed gnomAD
rs762227011 CA7481769	178	D>E		No	ClinGen ExAC gnomAD
CA268796589 rs201149010	178	D>N		No	ClinGen 1000Genomes
CA7481768 rs754277396	179	K>T		No	ClinGen ExAC gnomAD
COSM298432 CA391721446 rs1595891134	182	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA391721431 rs1207183772	183	A>E		No	ClinGen TOPMed
CA7481767 rs144400630	183	A>T		No	ClinGen ESP ExAC TOPMed
rs761153514 CA7481766	185	Q>E		No	ClinGen ExAC
CA7481764 rs771989421	185	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA391721374 rs1308888591	186	Q>K		No	ClinGen gnomAD

No associated diseases with Q9BV29

No regional properties for Q9BV29

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BV29

Functions

		Description
EC Number
Subcellular Localization	Membrane, coated pit ; Peripheral membrane protein ; Cytoplasmic side
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
cilium organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
head development	The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q561K4	Ccdc32	Coiled-coil domain-containing protein 32	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MKMFESADST	ATRSGQDLWA	EICSCLPNPE	QEDGANNAFS	DSFVDSCPEG	EGQREVADFA
70	80	90	100	110	120
VQPAVKPWAP	LQDSEVYLAS	LEKKLRRIKG	LNQEVTSKDM	LRTLAQAKKE	CWDRFLQEKL
130	140	150	160	170	180
ASEFFVDGLD	SDESTLEHFK	RWLQPDKVAV	STEEVQYLIP	PESQVEKPVA	EDEPAAGDKP

AAAEQ