AiPD: Autoinhibited Protein Database

Q9NX08

Gene name	COMMD8 (MDS022)
Protein name	COMM domain-containing protein 8
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54951
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-40 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-40 (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

3 structures for Q9NX08

Entry ID	Method	Resolution	Chain	Position	Source
8F2R	EM	312 A	H	5-183	PDB
8F2U	EM	353 A	H	1-183	PDB
AF-Q9NX08-F1	Predicted				AlphaFoldDB

152 variants for Q9NX08

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA356775382 rs1413214498	2	E>*		No	ClinGen TOPMed gnomAD
CA356775383 rs1413214498	2	E>Q		No	ClinGen TOPMed gnomAD
CA356775374 rs1375054019	3	P>A		No	ClinGen TOPMed gnomAD
rs977558398 CA356775372	3	P>L		No	ClinGen TOPMed gnomAD
rs977558398 CA96646505	3	P>R		No	ClinGen TOPMed gnomAD
rs1171846162 CA356775369	4	E>A		No	ClinGen TOPMed gnomAD
CA96646478 rs967770876	4	E>Q		No	ClinGen TOPMed
CA356775358 rs1379305360	5	E>D		No	ClinGen TOPMed gnomAD
CA356775363 rs1466358636	5	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1156770781 CA356775351	6	G>V		No	ClinGen gnomAD
CA356775348 rs1251858888	7	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA356775346 rs1251858888	7	T>R		No	ClinGen TOPMed gnomAD
CA96646461 rs1024324054	7	T>S		No	ClinGen TOPMed gnomAD
CA356775343 rs200812171	8	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2907992 rs200812171	8	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs928530033 CA96646437	8	P>S		No	ClinGen TOPMed gnomAD
CA356775339 rs528670794	9	L>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1259496698 CA356775336 CA356775337	9	L>F		No	ClinGen gnomAD
CA2907991 rs528670794	9	L>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1238893740 CA356775322	11	R>L		No	ClinGen TOPMed gnomAD
CA356775324 rs1238893740	11	R>Q		No	ClinGen TOPMed gnomAD
rs778742857 CA2907989	13	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA356775312 rs1231518986	13	Q>L		No	ClinGen gnomAD
rs1033629464 CA96646371	14	K>Q		No	ClinGen TOPMed gnomAD
CA356775294 rs1002034383	16	P>Q		No	ClinGen TOPMed gnomAD
CA96646360 rs1002034383	16	P>R		No	ClinGen TOPMed gnomAD
rs1456676534 CA356775295	16	P>S		No	ClinGen gnomAD
CA356775290 rs1367531578	17	A>D		No	ClinGen gnomAD
rs35444219 CA2907987 VAR_048814	17	A>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA356775288 rs1367531578	17	A>V		No	ClinGen gnomAD
CA2907985 rs757608950	18	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1464581317 CA356775281	18	E>D		No	ClinGen TOPMed
CA356775284 rs1426216809	18	E>G		No	ClinGen TOPMed
rs1028757279 CA96646339	20	G>D		No	ClinGen TOPMed gnomAD
CA356775265 rs1270574564	21	P>L		No	ClinGen gnomAD
TCGA novel	22	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436083524 CA356774483	23	L>F		No	ClinGen gnomAD
CA2907968 rs141314476	25	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356774430 rs1560391458	27	I>M		No	ClinGen Ensembl
rs757377472 CA2907967 COSM734327	30	G>D	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1276554117 CA356774400	31	I>V		No	ClinGen gnomAD
CA2907965 rs778163407	33	G>D		No	ClinGen ExAC gnomAD
CA356774366 rs750814444	34	R>*		No	ClinGen ExAC gnomAD
CA2907964 rs750814444	34	R>G		No	ClinGen ExAC gnomAD
COSM274633 CA356774360 rs1275304908	34	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2907963 rs148279035	35	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs765629578 CA2907962	38	V>L		No	ClinGen ExAC gnomAD
CA2907961 rs755488096	39	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs897310595 CA96644091	40	Q>E		No	ClinGen Ensembl
TCGA novel	43	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311503700 CA356774218	47	E>*		No	ClinGen TOPMed gnomAD
CA356774213 rs1414254789	47	E>V		No	ClinGen TOPMed gnomAD
CA356774158 rs1426488260	52	M>L		No	ClinGen gnomAD
CA2907960 rs756451793	53	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA356774127 rs1411274141	54	V>A		No	ClinGen TOPMed gnomAD
rs760201814 CA2907958	54	V>I		No	ClinGen ExAC TOPMed gnomAD
rs772655815 CA2907957	55	L>S		No	ClinGen ExAC gnomAD
CA2907954 rs114141818	58	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356774086 rs114141818	58	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141230159 CA2907953	60	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279274116 CA356774073	60	K>N		No	ClinGen TOPMed gnomAD
rs371400473 CA2907952	61	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs749275810 CA2907951	65	I>T		No	ClinGen ExAC TOPMed gnomAD
rs775597717 CA356774035	66	V>F		No	ClinGen ExAC gnomAD
rs775597717 CA2907950	66	V>I		No	ClinGen ExAC gnomAD
rs769802200 CA2907949	67	G>C		No	ClinGen ExAC gnomAD
rs1300644964 CA356773989	71	P>L		No	ClinGen gnomAD
rs777931563 CA2907947	72	D>E		No	ClinGen ExAC gnomAD
CA356773968 rs1339593171	73	E>*		No	ClinGen TOPMed
rs1197400730 CA356773965	73	E>G		No	ClinGen TOPMed
rs748388527 CA2907945	74	E>G		No	ClinGen ExAC gnomAD
CA2907946 TCGA novel rs550666373	74	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC gnomAD NCI-TCGA
rs1465884222 CA356773645	75	I>M		No	ClinGen gnomAD
CA96641860 rs1040980400	75	I>V		No	ClinGen Ensembl
rs779220775 CA2907926	76	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA356773582 rs749660918	80	N>I		No	ClinGen ExAC TOPMed gnomAD
CA356773579 rs1375152749	80	N>K		No	ClinGen TOPMed gnomAD
COSM3940887 rs749660918 CA2907924	80	N>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA96641823 rs1004928509	81	Q>R		No	ClinGen Ensembl
rs1291502355 CA356773532	84	S>L		No	ClinGen gnomAD
rs1578173694 CA356773538	84	S>P		No	ClinGen Ensembl
CA356773522 rs1226670850	85	L>P		No	ClinGen gnomAD
rs1313945806 CA356773514	86	H>P		No	ClinGen gnomAD
TCGA novel	88	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2907922 rs756675294	88	E>A		No	ClinGen ExAC TOPMed gnomAD
CA2907923 rs756675294	88	E>G		No	ClinGen ExAC TOPMed gnomAD
CA356773464 rs1299037756	90	I>M		No	ClinGen gnomAD
CA356773417 rs1293077548	94	V>A		No	ClinGen gnomAD
rs886528592 CA96641810	94	V>M		No	ClinGen TOPMed
CA2907920 rs780602871	96	S>I		No	ClinGen ExAC TOPMed gnomAD
CA356773390 rs780602871	96	S>N		No	ClinGen ExAC TOPMed gnomAD
CA96641796 rs11541139	99	D>E		No	ClinGen Ensembl
rs1351838500 CA356773360	99	D>Y		No	ClinGen gnomAD
CA356773330 rs1371607499	101	I>M		No	ClinGen gnomAD
rs1166882653 CA356773333	101	I>T		No	ClinGen gnomAD
rs750981707 CA2907918	102	K>R		No	ClinGen ExAC gnomAD
CA356773302 rs1389273091	104	A>S		No	ClinGen gnomAD
rs763818110 CA2907917	105	L>R		No	ClinGen ExAC gnomAD
CA356773264 rs1419662222	108	E>*		No	ClinGen TOPMed
rs968832596 CA96641767	108	E>D		No	ClinGen TOPMed gnomAD
CA2907915 rs752603657	112	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2907914 rs540984741	113	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA356773187 rs1202544248	116	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs759595322 CA2907913	116	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1275859916 CA356773173	118	Q>*		No	ClinGen gnomAD
rs1231057456 CA356773156	119	D>E		No	ClinGen gnomAD
rs770725774 CA2907911	122	W>G		No	ClinGen ExAC TOPMed gnomAD
CA356773109 rs1219899111	124	V>G		No	ClinGen gnomAD
rs761968440 CA2907910	125	K>N		No	ClinGen ExAC TOPMed gnomAD
rs77794579 CA2907889	127	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1412271152 CA356772768	128	L>F		No	ClinGen gnomAD
rs763205373 CA2907888	129	S>C		No	ClinGen ExAC TOPMed gnomAD
CA356772740 rs1255949861	130	S>I		No	ClinGen gnomAD
rs775717105 CA2907886	131	D>N		No	ClinGen ExAC gnomAD
rs1056304065 CA96639679	133	I>V		No	ClinGen TOPMed gnomAD
rs769950448 CA2907885	137	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs145737909 CA2907884	137	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs776791909 CA2907883	139	P>Q		No	ClinGen ExAC gnomAD
CA2907880 rs777473911	141	L>*		No	ClinGen ExAC TOPMed gnomAD
CA2907878 rs374726097	144	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA356772626 rs1388674026	145	L>P		No	ClinGen gnomAD
CA356772627 rs1388674026	145	L>R		No	ClinGen gnomAD
rs201423716 CA96639633	151	G>D		No	ClinGen ExAC TOPMed gnomAD
CA96639637 rs781172141	151	G>S		No	ClinGen TOPMed
rs201423716 CA2907874	151	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1446750863 CA356772579	152	E>D		No	ClinGen gnomAD
CA96639624 rs986113304	152	E>Q		No	ClinGen Ensembl
rs750300329 CA2907872	154	K>N		No	ClinGen ExAC gnomAD
rs1246753557 CA356772568	154	K>T		No	ClinGen gnomAD
CA356772562 rs1465722624	155	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356772541 rs1462690171	158	I>N		No	ClinGen gnomAD
rs200053687 CA2907871	158	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA356772502 rs1355996610	163	E>G		No	ClinGen gnomAD
CA356772494 rs1266192479	164	E>G		No	ClinGen TOPMed gnomAD
CA96639593 rs972889352	166	Q>H		No	ClinGen TOPMed
rs1361268914 CA356772477	167	N>D		No	ClinGen gnomAD
CA2907868 rs150753801	169	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2907867 rs145833048	170	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA96639582 rs1005623435	170	Q>P		No	ClinGen Ensembl
rs867082023 CA96639572	171	S>F		No	ClinGen gnomAD
CA2907866 rs777110270	173	E>D		No	ClinGen ExAC gnomAD
rs368378880 CA2907865	174	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2907864 rs149829832	174	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375096322 CA356772400	175	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs375096322 CA2907862 COSM1196881	175	A>V	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs778564004 CA2907860	176	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	177	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356772376 rs1194812726	177	K>R		No	ClinGen gnomAD
CA2907841 rs151117717	179	V>A		No	ClinGen ESP ExAC gnomAD
rs756510679 CA2907842	179	V>F		No	ClinGen ExAC TOPMed gnomAD
CA2907837 rs779590576	181	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	182	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9NX08

1 regional properties for Q9NX08

Type	Name	Position	InterPro Accession
domain	COMM domain	113 - 183	IPR017920

Functions

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

2 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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

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

10	20	30	40	50	60
MEPEEGTPLW	RLQKLPAELG	PQLLHKIIDG	ICGRAYPVYQ	DYHTVWESEE	WMHVLEDIAK
70	80	90	100	110	120
FFKAIVGKNL	PDEEIFQQLN	QLNSLHQETI	MKCVKSRKDE	IKQALSREIV	AISSAQLQDF
130	140	150	160	170	180
DWQVKLALSS	DKIAALRMPL	LSLHLDVKEN	GEVKPYSIEM	SREELQNLIQ	SLEAANKVVL

QLK