AiPD: Autoinhibited Protein Database

Q5JX71

Gene name	FAM209A
Protein name	Protein FAM209A
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:200232
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

50-132 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

50-132 (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 Q5JX71

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5JX71-F1	Predicted				AlphaFoldDB

185 variants for Q5JX71

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs763059739 CA9918888	2	W>G		No	ClinGen ExAC gnomAD
rs1437343738 CA409401129	3	T>A		No	ClinGen gnomAD
CA9918889 rs201407134	3	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409401142 rs1177271528	5	K>T		No	ClinGen gnomAD
rs145225635 CA9918893	6	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs145225635 CA9918892	6	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs137897901 CA9918894	7	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA409401159 rs1426251834	8	L>P		No	ClinGen gnomAD
CA9918898 rs780694197	11	L>P		No	ClinGen ExAC gnomAD
CA9918899 rs780694197	11	L>R		No	ClinGen ExAC gnomAD
rs1600846231 CA409401173	11	L>V		No	ClinGen Ensembl
TCGA novel	16	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409401230 rs1377117353	16	C>Y		No	ClinGen gnomAD
CA9918901 rs781581775	18	Y>C		No	ClinGen ExAC gnomAD
CA9918902 rs377732863	20	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	20	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308768529 CA409401303	21	M>I		No	ClinGen gnomAD
CA409401311 rs1361882983	22	F>L		No	ClinGen gnomAD
rs756326650 CA9918903	24	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1207308859 CA409401364	27	Q>E		No	ClinGen gnomAD
CA409401367 rs1183641996	27	Q>R		No	ClinGen TOPMed
rs1267732197 CA409401383	29	T>S		No	ClinGen TOPMed
CA409401390 rs1568718389	30	S>N		No	ClinGen Ensembl
CA9918906 rs770936216 COSM274258	31	E>K	large_intestine Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770936216 CA9918907	31	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA409401401 rs1182454908	32	P>S		No	ClinGen gnomAD
CA9918908 rs746905341	33	Q>*		No	ClinGen ExAC
rs768502335 CA9918909	33	Q>R		No	ClinGen ExAC TOPMed
CA409401416 rs1166467705	34	G>E		No	ClinGen gnomAD
rs1238983909 CA409401411	34	G>R		No	ClinGen TOPMed
rs201716556 CA316178244	35	K>E		No	ClinGen 1000Genomes
rs776466697 CA409401420	35	K>M		No	ClinGen ExAC gnomAD
rs776466697 CA409401419	35	K>R		No	ClinGen ExAC gnomAD
rs776466697 CA9918910	35	K>T		No	ClinGen ExAC gnomAD
rs773058052 CA9918914	37	Q>K		No	ClinGen ExAC
rs1315587963 CA409401431	37	Q>P		No	ClinGen TOPMed
rs765922904 CA316178314	38	Y>*		No	ClinGen ExAC TOPMed
CA316178313 rs868327484	38	Y>C		No	ClinGen TOPMed
CA9918915 rs762709034	38	Y>H		No	ClinGen ExAC gnomAD
CA9918918 COSM2764099 rs751148101	39	G>R	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs931441012 CA316178349	43	R>Q		No	ClinGen TOPMed gnomAD
rs767948280 COSM357878 CA9918920	43	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA9918921 rs565141407	44	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1568718459 CA409401477	44	I>S		No	ClinGen Ensembl
rs565141407 CA409401474	44	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9918925 rs149614912	45	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA409401480 rs149614912	45	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9918924 rs149614912	45	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9918923 rs778119401 COSM1028296	45	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	46	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9918927 rs2426632	47	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528218602 CA316178370	48	L>V		No	ClinGen gnomAD
rs1243277837 CA409401502	49	P>S		No	ClinGen gnomAD
COSM1028297 CA9918929 rs530983630	54	G>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs530983630 CA409401536	54	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA316178401 rs139125762	55	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9918930 rs139125762	55	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9918931 rs769417918	56	L>F		No	ClinGen ExAC gnomAD
CA409401554 CA409401553 rs1413903626	57	G>R		No	ClinGen gnomAD
CA409401561 rs1600846447	58	S>G		No	ClinGen Ensembl
rs906522410 CA316178459	60	W>C		No	ClinGen Ensembl
rs773146210 CA9918933	61	L>F		No	ClinGen ExAC gnomAD
rs1485216212 CA409401587	61	L>R		No	ClinGen TOPMed
TCGA novel	63	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9918934 rs2019515	64	L>F		No	ClinGen ExAC TOPMed gnomAD
rs2019515 CA9918935 COSM274259	64	L>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
VAR_029621 rs707554 CA9918938	66	V>A		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA409401618 rs707554	66	V>D		No	ClinGen ExAC TOPMed gnomAD
CA409401617 rs1327274818	66	V>I		No	ClinGen gnomAD
CA316178534 rs1002637808	67	V>F		No	ClinGen Ensembl
CA409401630 rs1273507939	68	V>A		No	ClinGen gnomAD
CA9918939 rs778789431	69	P>L		No	ClinGen ExAC TOPMed gnomAD
CA409401634 rs778789431	69	P>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	72	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409401660 rs1600846512	73	L>P		No	ClinGen Ensembl
CA9918942 rs17407677	74	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9918943 rs764398760	74	Q>R		No	ClinGen ExAC gnomAD
rs147457237 CA9918945	75	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs147457237 CA9918944	75	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447223482 CA409401669	75	C>Y		No	ClinGen gnomAD
TCGA novel	78	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9918950 TCGA novel rs779149821	80	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs1431399077 CA409401719	81	K>N		No	ClinGen TOPMed gnomAD
CA9918951 rs750515557	82	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1568718567 CA409401723	82	N>S		No	ClinGen Ensembl
rs751684911 CA9918973	86	S>G		No	ClinGen ExAC gnomAD
CA9918975 rs756101112	87	P>T		No	ClinGen ExAC gnomAD
rs560673730 CA9918977	90	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9918978 rs368902169 COSM1028300	91	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9918979 rs368902169	91	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745466394 CA9918980	91	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771775116 CA9918981	92	G>D		No	ClinGen ExAC gnomAD
rs1054339 CA9918984	93	G>C		No	ClinGen ExAC TOPMed gnomAD
CA316179665 rs1054341	93	G>D		No	ClinGen gnomAD
rs1054339 CA9918983 COSM1028301	93	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA316179667 rs1054341	93	G>V		No	ClinGen gnomAD
CA9918985 rs777184357	94	Q>H		No	ClinGen ExAC gnomAD
CA316179676 rs1054342	94	Q>P		No	ClinGen Ensembl
CA316179681 rs1054343 VAR_033761	95	L>F		No	ClinGen UniProt Ensembl dbSNP
rs1381563448 CA409401827	98	P>Q		No	ClinGen gnomAD
CA409401826 rs1334131675	98	P>S		No	ClinGen gnomAD
rs1246315369 CA409401838	100	K>E		No	ClinGen gnomAD
CA316179725 rs1063975	102	K>N		No	ClinGen Ensembl
rs762326030 CA9918986	103	R>G		No	ClinGen ExAC gnomAD
TCGA novel	103	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148518837 CA9918987	105	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9918988 rs112172378	107	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766675632 CA9918990	108	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1188067673 CA409401899	109	K>E		No	ClinGen gnomAD
CA409401906 rs1461924956	110	D>H		No	ClinGen gnomAD
rs1246457988 CA409401919	111	C>*		No	ClinGen gnomAD
CA9918991 rs751585330	112	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1054348 CA316179833	112	A>V		No	ClinGen Ensembl
CA316179835 rs878902346	113	F>L		No	ClinGen TOPMed
CA409401949 rs1384849162	114	N>S		No	ClinGen TOPMed
rs1421339238 CA409401963	115	T>S		No	ClinGen TOPMed gnomAD
CA316179869 rs1054350	117	M>I		No	ClinGen Ensembl
CA316179837 VAR_029622 rs1054349	117	M>K		No	ClinGen UniProt Ensembl dbSNP
rs1054349 CA316179859	117	M>T		No	ClinGen Ensembl
CA316179872 rs77008224	119	L>F		No	ClinGen Ensembl
CA409402031 rs1054352	120	E>D		No	ClinGen TOPMed gnomAD
CA9918993 rs754441604	120	E>K		No	ClinGen ExAC TOPMed gnomAD
rs767717803 CA9918994	121	V>L		No	ClinGen ExAC
rs1169987196 CA409402043	122	E>Q		No	ClinGen gnomAD
rs753761023 CA9918995	123	L>P		No	ClinGen ExAC gnomAD
rs1054353 CA316179940	124	M>L		No	ClinGen Ensembl
rs757288058 CA9918997	125	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1359443117 CA409402105	126	F>L		No	ClinGen gnomAD
rs1381375836 CA409402112	126	F>S		No	ClinGen gnomAD
CA409402123 rs1296110954	127	V>M		No	ClinGen gnomAD
rs1054354 CA316179968	129	K>E		No	ClinGen gnomAD
rs757953311 CA9919000	129	K>N		No	ClinGen ExAC gnomAD
CA409402150 rs1262557248	129	K>T		No	ClinGen TOPMed gnomAD
CA409402165 rs1197274932	130	V>A		No	ClinGen TOPMed
CA409402163 rs1376715677	130	V>L		No	ClinGen TOPMed
CA409402159 rs1376715677	130	V>M		No	ClinGen TOPMed
rs1054355 CA9919002	131	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779825440 CA9919001	131	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	133	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA316179978 rs900322346	133	L>V		No	ClinGen Ensembl
rs548163033 CA9919004	134	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9919006 rs1054358	135	R>C		No	ClinGen ExAC TOPMed gnomAD
VAR_029623 CA9919005 rs1054358	135	R>G		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA9919007 rs201984160	135	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9919008 rs201988737	136	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9919009 rs149932128	137	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA316180038 rs777694210	139	T>A		No	ClinGen TOPMed gnomAD
CA9919010 rs572574818	139	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	140	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA316180047 rs370119192	140	G>D		No	ClinGen ESP TOPMed gnomAD
CA409402287 rs1332642710	140	G>S		No	ClinGen TOPMed
rs1362864468 CA409402303	141	S>I		No	ClinGen TOPMed
rs1282506118 CA409402355	144	N>K		No	ClinGen gnomAD
CA409402362 rs1322054277	145	L>F		No	ClinGen TOPMed
rs1054361 CA316180050 VAR_029624	146	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt NCI-TCGA TOPMed dbSNP gnomAD
COSM478319 rs752842594 CA9919013	148	R>*	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1282333179 CA409402395	148	R>Q		No	ClinGen gnomAD
rs757235149 CA9919014	149	K>N		No	ClinGen ExAC TOPMed gnomAD
CA316180053 rs1054362	149	K>R		No	ClinGen Ensembl
rs570555846 CA316180091	152	M>I		No	ClinGen 1000Genomes TOPMed
CA9919015 rs144985316	152	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1216817970 CA409402441	152	M>V		No	ClinGen gnomAD
CA409402466 rs1264375094	154	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	154	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9919016 rs182121574	155	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA409402478 rs182121574	155	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs758272607 CA9919017	156	P>R		No	ClinGen ExAC gnomAD
TCGA novel	156	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA316180128 rs990962379	157	Y>S		No	ClinGen Ensembl
CA9919018 rs111909024	159	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA316180157 rs111909024	159	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1028302 rs746598576 CA9919019	160	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1277413175 CA409402555	161	I>N		No	ClinGen gnomAD
CA316180200 rs1054365	163	E>K		No	ClinGen gnomAD
rs201619344 CA409402593	164	I>L		No	ClinGen 1000Genomes
rs201619344 CA316180212	164	I>V		No	ClinGen 1000Genomes
rs374398582 CA9919022	165	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs538150571 CA316180228	165	W>C		No	ClinGen 1000Genomes
CA409402607 rs149723126	165	W>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409402605 rs149723126 CA9919021	165	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409402621 rs1346625415	166	G>R		No	ClinGen TOPMed gnomAD
rs770172180 CA9919023	167	E>K		No	ClinGen ExAC gnomAD
rs773824414 CA9919024	169	S>G		No	ClinGen ExAC TOPMed gnomAD
rs146736088 CA9919025	169	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1339384994 CA409402707	172	S>R		No	ClinGen TOPMed

No associated diseases with Q5JX71

No regional properties for Q5JX71

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q5JX71

Functions

		Description
EC Number
Subcellular Localization	Nucleus inner membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nuclear inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope.
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5JX69	FAM209B	Protein FAM209B	Homo sapiens (Human)	PR

10	20	30	40	50	60
MWTLKSSLVL	LLCLTCSYAF	MFSSLRQKTS	EPQGKVQYGE	HFRIRQNLPE	HTQGWLGSKW
70	80	90	100	110	120
LWLLFVVVPF	VILQCQRDSE	KNKEQSPPGL	RGGQLHSPLK	KKRNASPNKD	CAFNTLMELE
130	140	150	160	170
VELMKFVSKV	RNLKRAMATG	SGSNLRLRKS	EMPADPYHVT	ICEIWGEESS	S