AiPD: Autoinhibited Protein Database

Q86W67

Gene name	FAM228A (C2orf84)
Protein name	Protein FAM228A
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:653140
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-206 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-206 (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 Q86W67

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86W67-F1	Predicted				AlphaFoldDB

181 variants for Q86W67

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1550063 rs368326733	3	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs767312501 CA1550064	3	A>V		No	ClinGen ExAC TOPMed gnomAD
CA346045265 rs1558401338	7	A>V		No	ClinGen Ensembl
rs752422837 CA1550065	8	S>T		No	ClinGen ExAC gnomAD
rs1190760389 CA346045278	9	Y>F		No	ClinGen TOPMed
CA1550067 rs149710261	10	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746000882 CA1550068	12	H>R		No	ClinGen ExAC gnomAD
CA346045312 rs1211339668	12	H>Y		No	ClinGen gnomAD
rs372838900 CA346045347	15	P>A		No	ClinGen ESP TOPMed gnomAD
CA346045352 rs758405362	15	P>L		No	ClinGen ExAC gnomAD
CA1550069 rs758405362	15	P>R		No	ClinGen ExAC gnomAD
rs372838900 CA346045349	15	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs372838900 CA43603908	15	P>T		No	ClinGen ESP TOPMed gnomAD
CA346045358 rs1462904787	16	E>*		No	ClinGen TOPMed
CA43603921 rs375770165	17	K>E		No	ClinGen ESP gnomAD
CA346045379 rs1182544686 CA346045377	17	K>N		No	ClinGen TOPMed gnomAD
rs1474179210 CA346045438	22	P>L		No	ClinGen gnomAD
rs747210211 CA1550072	24	P>S		No	ClinGen ExAC gnomAD
rs747210211 CA1550073	24	P>T		No	ClinGen ExAC gnomAD
CA1550074 rs527821712	25	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1550075 rs543111385	26	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770475618 CA1550076	27	V>I		No	ClinGen ExAC gnomAD
CA1550077 rs747128968	28	S>C		No	ClinGen ExAC TOPMed gnomAD
CA346045503 rs747128968	28	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA346045529 rs1573798598	30	M>I		No	ClinGen Ensembl
CA346045524 rs765789805	30	M>K		No	ClinGen ExAC TOPMed gnomAD
CA1550079 rs765789805	30	M>T		No	ClinGen ExAC TOPMed gnomAD
CA1550078 rs368941941	30	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1550098 rs771401166	32	V>I		No	ClinGen ExAC gnomAD
CA346015481 rs771401166	32	V>L		No	ClinGen ExAC gnomAD
CA1550099 rs773764507	33	L>S		No	ClinGen ExAC gnomAD
CA346015505 rs1345497524	36	E>Q		No	ClinGen gnomAD
rs1558402273 CA346015521	38	I>V		No	ClinGen Ensembl
CA43557275 rs878917246	41	A>G		No	ClinGen Ensembl
rs866724522 CA43557285	42	V>L		No	ClinGen TOPMed
CA43557291 rs1040729896	44	A>G		No	ClinGen gnomAD
CA346015565 rs1040729896	44	A>V		No	ClinGen gnomAD
CA43557308 rs1057399523	45	I>M		No	ClinGen TOPMed gnomAD
CA1550101 rs771759680	45	I>V		No	ClinGen ExAC gnomAD
TCGA novel	49	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1550103 rs760523021	49	E>G		No	ClinGen ExAC gnomAD
CA1550104 rs763809580	51	S>C		No	ClinGen ExAC gnomAD
rs199782594 CA1550105	52	I>L		No	ClinGen ExAC TOPMed gnomAD
CA43557334 rs547408938	52	I>T		No	ClinGen 1000Genomes gnomAD
rs199513748 CA1550106	54	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA346016325 rs1447333505	58	P>S		No	ClinGen gnomAD
CA346016337 rs1190139383	59	P>Q		No	ClinGen gnomAD
rs201642678 CA1550154	62	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1550153 rs754078361	62	D>N		No	ClinGen ExAC gnomAD
rs566611327 CA1550155	63	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA346016394 rs1317773932 COSM1668753	64	L>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	67	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346016452 rs1573805365	68	Q>*		No	ClinGen Ensembl
rs750747584 CA1550156	68	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs758929305 CA1550157	69	Q>R		No	ClinGen ExAC gnomAD
rs1232626458 CA346016539	73	E>G		No	ClinGen gnomAD
TCGA novel	76	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751237028	76	R>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA346016602 rs1346371713	77	T>I		No	ClinGen gnomAD
CA346016615 rs1205034848	79	L>F		No	ClinGen gnomAD
COSM1494849 rs780519702 CA1550160	80	Q>*	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1550161 rs746545809	80	Q>H		No	ClinGen ExAC gnomAD
CA43561152 rs1033928226	82	E>G		No	ClinGen TOPMed gnomAD
CA1550184 rs372216146	85	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA346016737 rs1167320611	85	K>R		No	ClinGen TOPMed
COSM442655 rs755379430 CA1550185	86	R>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs374795794 CA1550187	86	R>P		No	ClinGen ESP ExAC gnomAD
rs374795794 CA1550186	86	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs755852648 CA1550188	87	H>R		No	ClinGen ExAC TOPMed gnomAD
rs777543392 CA1550189	89	I>V		No	ClinGen ExAC gnomAD
rs1473580892 CA346016802	91	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA43561366 rs975139880	91	E>D		No	ClinGen TOPMed
CA346016816 rs1235435227	92	L>F		No	ClinGen TOPMed
CA1550190 rs749135211	94	E>D		No	ClinGen ExAC gnomAD
CA346016862 rs1410944384	95	I>M		No	ClinGen gnomAD
rs1352937063 CA346016860	95	I>R		No	ClinGen TOPMed gnomAD
CA346016861 rs1352937063	95	I>T		No	ClinGen TOPMed gnomAD
CA1550191 rs368889734	96	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778516038 CA1550192	97	K>E		No	ClinGen ExAC gnomAD
rs1241899864 CA346016906	99	R>G		No	ClinGen gnomAD
rs745823327 CA1550193	100	L>M		No	ClinGen ExAC gnomAD
CA1550194 rs745823327	100	L>V		No	ClinGen ExAC gnomAD
rs776795406 CA1550195	101	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1195073779 CA346016944	102	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	102	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372181598 CA1550196	104	S>L	Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs201844790 CA1550198	106	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346016994 rs1182837778	106	Y>H		No	ClinGen gnomAD
TCGA novel	107	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369812559 CA1550199	108	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA346017024 rs1422140011	108	T>S		No	ClinGen gnomAD
rs896957811 CA43561425	110	T>A		No	ClinGen TOPMed gnomAD
rs778407036 CA1550200	111	S>L		No	ClinGen ExAC gnomAD
CA43561431 rs573409994	112	H>R		No	ClinGen Ensembl
rs143590376 CA1550202	113	C>S		No	ClinGen 1000Genomes ExAC gnomAD
CA346017076 rs1462457502	113	C>Y		No	ClinGen gnomAD
CA346017091 rs1377543553	115	I>T		No	ClinGen gnomAD
CA346017098 rs1352743967	116	P>R		No	ClinGen TOPMed
CA1550204 rs752299678	117	K>E		No	ClinGen ExAC gnomAD
rs995312713 CA43561490	118	E>D		No	ClinGen TOPMed
CA346017111 rs1340739706	118	E>G		No	ClinGen gnomAD
rs755652116 CA1550206	119	W>*		No	ClinGen ExAC gnomAD
CA1550205 rs755652116	119	W>C		No	ClinGen ExAC gnomAD
CA1550207 rs753526779	121	K>N		No	ClinGen ExAC gnomAD
CA1550208 rs375321711	122	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA43561502 rs545153855	123	S>C		No	ClinGen TOPMed
CA43561507 rs545153855	123	S>F		No	ClinGen TOPMed
CA346017211 rs1328570011	126	A>V		No	ClinGen gnomAD
rs201173958 CA346017215	127	R>G		No	ClinGen gnomAD
rs1406662157 CA346017243	128	S>N		No	ClinGen TOPMed
rs1392713367 CA346017236	128	S>R		No	ClinGen gnomAD
CA346017265 rs1183739358	129	K>E		No	ClinGen TOPMed gnomAD
rs1428196618 CA346017293	130	T>S		No	ClinGen gnomAD
CA531759993 rs1186937777	131	Y>*		No	ClinGen gnomAD
rs1392215900 CA346017317 CA346017318	131	Y>*		No	ClinGen gnomAD
CA1550210 rs572534616	132	K>*		No	ClinGen 1000Genomes ExAC gnomAD
CA1550211 rs745603984	133	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA346017369 rs1357991307	134	S>T		No	ClinGen gnomAD
CA43566449 rs972426123	137	K>E		No	ClinGen Ensembl
rs201619656 CA43566460	139	I>F		No	ClinGen TOPMed gnomAD
rs201619656 CA346018820	139	I>V		No	ClinGen TOPMed gnomAD
rs2288073 CA1550232 VAR_046178	140	Y>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA43566472 rs952556118	141	A>S		No	ClinGen Ensembl
CA1550233 rs780100538	143	K>E		No	ClinGen ExAC gnomAD
CA1550234 rs746965978	143	K>R		No	ClinGen ExAC gnomAD
rs1156369808 CA346018958	146	K>R		No	ClinGen gnomAD
TCGA novel	147	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777856709 CA1550239	149	E>D		No	ClinGen ExAC gnomAD
rs1573811236 CA346019109	150	K>R		No	ClinGen Ensembl
CA346019146 rs1163678636	152	T>A		No	ClinGen gnomAD
COSM1668754 rs771231219 CA1550241	152	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA43566539 rs771231219	152	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1165297635 CA346019165	153	A>T		No	ClinGen TOPMed
CA43566566 rs536311646	154	D>G		No	ClinGen 1000Genomes gnomAD
CA346019186 rs746309692	154	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1550243 COSM259811 rs746309692	154	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1550244 rs374755608	155	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs374755608 CA43566581	155	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA346019255 rs1329965427	156	S>I		No	ClinGen TOPMed gnomAD
CA346019244 rs1329965427	156	S>N		No	ClinGen TOPMed gnomAD
CA346019276 rs1203910137	157	Q>*		No	ClinGen TOPMed
rs1227744586 CA346019292	158	A>S		No	ClinGen gnomAD
rs775939085 CA1550245	159	A>E		No	ClinGen ExAC gnomAD
CA346019335 rs775939085	159	A>G		No	ClinGen ExAC gnomAD
rs376361352 CA1550249	167	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764646887 CA1550248	167	S>P		No	ClinGen ExAC gnomAD
rs1251508392 CA346019563	168	K>E		No	ClinGen gnomAD
rs370703831 CA1550250	168	K>N		No	ClinGen ESP TOPMed
rs761198611 CA1550252	170	S>R		No	ClinGen ExAC gnomAD
CA346019648 rs1573811308	171	Q>P		No	ClinGen Ensembl
rs765010061 CA1550253	173	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1371769678 CA346019785	175	V>A		No	ClinGen TOPMed
rs1253122550 CA346019778	175	V>L		No	ClinGen TOPMed gnomAD
CA346019777 rs1253122550	175	V>M		No	ClinGen TOPMed gnomAD
CA346019803 rs1470205051	176	G>V		No	ClinGen TOPMed gnomAD
rs201355955 CA346019891	180	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750033169 CA1550254	180	G>S		No	ClinGen ExAC gnomAD
rs201355955 COSM378286 CA1550255	180	G>V	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1164026479 CA346019992	183	S>T		No	ClinGen gnomAD
CA1550256 rs201826849	185	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	185	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346020074 rs1422541165	186	L>P		No	ClinGen TOPMed
CA1550259 rs758603012	188	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM215869 rs187890427 CA1550258	188	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs879150799 CA43566666	189	G>A		No	ClinGen Ensembl
CA1550260 rs777963297	192	A>S		No	ClinGen ExAC TOPMed gnomAD
CA346020222 rs777963297	192	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	194	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1550261 rs757278994	195	C>*		No	ClinGen ExAC gnomAD
CA346020316 rs1229081386	195	C>Y		No	ClinGen TOPMed gnomAD
rs1480767748 CA346020334	196	S>G		No	ClinGen TOPMed
rs1271363924 CA346020364	197	T>I		No	ClinGen TOPMed
CA1550263 rs146891535	198	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1550264 rs548486197	199	E>K		No	ClinGen ExAC gnomAD
CA1550265 rs548486197	199	E>Q		No	ClinGen ExAC gnomAD
rs747357859 CA1550266	200	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA346020417 rs1208862075	200	Q>P		No	ClinGen gnomAD
TCGA novel	201	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346020463 rs1473463592	202	I>T		No	ClinGen gnomAD
rs769328596 CA1550268	205	P>A		No	ClinGen ExAC gnomAD
rs769328596 CA1550267	205	P>T		No	ClinGen ExAC gnomAD

No associated diseases with Q86W67

2 regional properties for Q86W67

Type	Name	Position	InterPro Accession
domain	F-box domain	45 - 92	IPR001810
domain	F-box associated (FBA) domain	111 - 297	IPR007397

Functions

		Description
EC Number
Subcellular Localization
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

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32KQ1	FAM228A	Protein FAM228A	Bos taurus (Bovine)	PR
Q8CDW1	Fam228a	Protein FAM228A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAATKTASYD	EHFRPEKLRE	WPEPESVSLM	EVLAREDIDE	AVCAILFKEN	SIVKVTVPPF
70	80	90	100	110	120
VDPLFQRQQE	VDEERRTGLQ	CETGKRHSIK	ELEEIEKARL	HASSPYFTFT	SHCVIPKEWH
130	140	150	160	170	180
KASARARSKT	YKYSPEKLIY	ADKKQKRKEK	KTADLSQAAF	ERQFLSSKLS	QKNKVGERKG
190	200
LVSRGLGRGW	HAGLCSTHEQ	HILVPE