AiPD: Autoinhibited Protein Database

Q16204

Gene name	CCDC6 (D10S170, TST1)
Protein name	Coiled-coil domain-containing protein 6
Names	Papillary thyroid carcinoma-encoded protein, Protein H4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8030
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

312-390 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

312-390 (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 Q16204

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q16204-F1	Predicted				AlphaFoldDB

255 variants for Q16204

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA377063658 rs1405886618	4	S>G		No	ClinGen gnomAD
TCGA novel	5	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5510577 rs766323057	7	E>K		No	ClinGen ExAC gnomAD
CA377063528 rs1167743654	10	T>R		No	ClinGen gnomAD
rs773525409 CA5510575	11	D>N		No	ClinGen ExAC gnomAD
CA208167449 rs747463591 CA377063500	12	G>R		No	ClinGen gnomAD
CA377063497 rs747463591	12	G>W		No	ClinGen gnomAD
CA377063483 rs895364091	13	A>S		No	ClinGen TOPMed gnomAD
rs895364091 CA208167448	13	A>T		No	ClinGen TOPMed gnomAD
rs770350659 CA5510574	13	A>V		No	ClinGen ExAC gnomAD
TCGA novel	14	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762472389 CA5510573	14	G>W		No	ClinGen ExAC TOPMed gnomAD
rs777134350 CA5510572	15	G>D		No	ClinGen ExAC gnomAD
rs1249799983 CA377063456	15	G>S		No	ClinGen TOPMed gnomAD
CA5510571 rs769187202	16	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1490027627 CA377063403	18	S>G		No	ClinGen TOPMed gnomAD
rs200683186 CA377063395	18	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200683186 CA5510569	18	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771439334 CA5510568	19	S>G		No	ClinGen ExAC gnomAD
rs745384598 CA5510567	19	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1394741976 CA377063377	19	S>R		No	ClinGen gnomAD
rs778657226 CA5510566	20	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	21	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169861908 CA377063333	22	A>D		No	ClinGen TOPMed gnomAD
rs1169861908 CA377063331	22	A>G		No	ClinGen TOPMed gnomAD
rs1354675850 CA377063337	22	A>T		No	ClinGen gnomAD
CA377063323 rs757205084	23	M>K		No	ClinGen ExAC gnomAD
rs757205084 CA377063321	23	M>R		No	ClinGen ExAC gnomAD
rs757205084 CA5510565	23	M>T		No	ClinGen ExAC gnomAD
CA377063325 rs1442721181	23	M>V		No	ClinGen gnomAD
CA377063311 rs1184010161	24	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs753837531 CA5510564	24	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs753837531 CA208167447	24	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA377063284 rs777511271	25	S>L		No	ClinGen ExAC gnomAD
CA5510563 rs777511271	25	S>W		No	ClinGen ExAC gnomAD
CA377063273 rs1186506769	26	S>F		No	ClinGen TOPMed
rs755927030 CA377063246	28	S>*		No	ClinGen ExAC gnomAD
rs755927030 CA5510562	28	S>L		No	ClinGen ExAC gnomAD
rs755927030 CA377063244	28	S>W		No	ClinGen ExAC gnomAD
rs1481080802 CA377063222	30	T>I		No	ClinGen gnomAD
rs751743656 CA5510561	31	S>*		No	ClinGen ExAC gnomAD
rs898660983 CA377063200	32	G>D		No	ClinGen TOPMed
rs898660983 CA208167446	32	G>V		No	ClinGen TOPMed
CA208167445 rs995241412	34	G>D		No	ClinGen TOPMed
CA5510560 rs766628863	34	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5510557 rs542244955	35	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA377062703 rs542244955	35	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs750507272 CA5510558	35	G>S		No	ClinGen ExAC TOPMed gnomAD
rs542244955 CA5510556	35	G>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	37	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447976328 CA377062682	37	G>D		No	ClinGen TOPMed
CA377062664 rs1334412300	38	G>E		No	ClinGen TOPMed gnomAD
rs1206542697 CA377062660	39	G>R		No	ClinGen TOPMed
rs761147870 CA5510549	40	G>D		No	ClinGen ExAC gnomAD
CA5510550 rs199731732	40	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1447450961 CA377062630	41	G>D		No	ClinGen TOPMed
rs1309345305 CA377062631	41	G>S		No	ClinGen gnomAD
rs1235727046 CA377062625	42	G>S		No	ClinGen TOPMed
rs774934709 CA377062609	43	G>R		No	ClinGen ExAC gnomAD
rs774934709 CA5510546	43	G>S		No	ClinGen ExAC gnomAD
rs574734621 CA208167441	44	G>V		No	ClinGen 1000Genomes
CA5510541 rs745565225	45	K>E		No	ClinGen ExAC gnomAD
CA208167440 rs540106812	48	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA377062526 rs1180745064	48	G>D		No	ClinGen gnomAD
rs540106812 CA5510540	48	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5510538 rs770386676	50	V>I		No	ClinGen ExAC gnomAD
rs1301452306 CA377062441	54	F>L		No	ClinGen gnomAD
CA208167439 rs1051505290	54	F>S		No	ClinGen gnomAD
CA5510536 rs61845880	55	R>C		No	ClinGen ExAC gnomAD
rs755840504 CA5510535	55	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1317179840 CA377062332	65	S>L		No	ClinGen gnomAD
rs780539682 CA208167438	70	N>D		No	ClinGen Ensembl
rs758645685 CA5510532	74	K>R		No	ClinGen ExAC gnomAD
rs765340983 CA5510530	81	K>R		No	ClinGen ExAC gnomAD
CA377062203 rs1388453423	84	C>Y		No	ClinGen gnomAD
TCGA novel	85	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5510529 rs757432690	86	A>S		No	ClinGen ExAC gnomAD
TCGA novel	90	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377062153 rs1310419416	91	N>T		No	ClinGen gnomAD
CA377062145 rs1413872977	92	R>H		No	ClinGen gnomAD
rs915783567 CA208167436	97	A>V		No	ClinGen TOPMed
CA377062100 rs1349440574	99	V>L		No	ClinGen TOPMed
CA377062088 rs1351119814	101	I>V		No	ClinGen TOPMed
CA5510494 rs772707360	102	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	110	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	124	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5510491 rs776459376	129	T>N		No	ClinGen ExAC gnomAD
rs1190647664 CA376984143	131	A>T		No	ClinGen TOPMed
rs1490053430 CA376984126	132	V>I		No	ClinGen gnomAD
TCGA novel	137	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1205186985 CA376983934	142	T>A		No	ClinGen gnomAD
rs1289272168 CA376978437	154	H>Y		No	ClinGen gnomAD
TCGA novel	158	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5510463 rs755436960	172	N>S		No	ClinGen ExAC gnomAD
TCGA novel	173	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376978296 rs1169867752	173	K>Q		No	ClinGen Ensembl
TCGA novel	178	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	187	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150943768 CA5510434	197	R>Q		No	ClinGen ESP ExAC gnomAD
TCGA novel	197	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5510431 rs775601774	203	E>AFKHF*		No	ClinGen ExAC gnomAD
CA5510432 rs763025939	203	E>I		No	ClinGen ExAC
rs1450865455 CA593866305	203	E>L		No	ClinGen gnomAD
rs1265447086 CA376973032	205	T>I		No	ClinGen TOPMed
CA207277869 rs865862114	218	W>L		No	ClinGen Ensembl
rs775915049 CA5510424	222	D>H		No	ClinGen ExAC
rs772549975	228	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5510422 COSM1348405 rs746439006	229	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA376972862 rs1242284607	229	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA376980085 rs1589037893	236	D>A		No	ClinGen Ensembl
TCGA novel	236	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376980066 rs1214921754	237	Q>R		No	ClinGen TOPMed
rs141265324 CA5510396	239	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs775541001 CA5510397	239	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1266423014 CA376980003	241	A>T		No	ClinGen gnomAD
CA207313522 rs868314380	241	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1315471718 CA376979985	242	P>L		No	ClinGen TOPMed gnomAD
rs749668592 COSM1348404 CA5510392	243	P>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA376979685 rs1309249230	258	M>T		No	ClinGen gnomAD
TCGA novel	258	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1316774971 CA376979612	260	R>H		No	ClinGen TOPMed
TCGA novel	270	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5510388 rs780829046	271	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	273	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1043914419 CA207313510	274	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	274	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376978208 rs1174504523	285	E>G		No	ClinGen gnomAD
rs1477767565 CA376978192	286	K>T		No	ClinGen gnomAD
CA376978147 rs1378263304	289	Q>R		No	ClinGen gnomAD
rs746546852 CA5510369	295	R>C		No	ClinGen ExAC gnomAD
rs147792558 CA5510368	295	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA376978033 rs1465093020	297	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5510367 rs144848013	299	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA376977992 rs1362668039	301	N>D		No	ClinGen gnomAD
CA5510365 rs778654666	309	Q>H		No	ClinGen ExAC gnomAD
CA5510364 rs147748484	314	R>K		No	ClinGen ESP ExAC
CA5510362 rs767729693	318	L>F		No	ClinGen ExAC gnomAD
CA5510361 rs777197866	319	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1324562647 CA376977855	320	R>L		No	ClinGen TOPMed gnomAD
COSM3382940 rs1324562647 CA376977857	320	R>Q	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5510360 rs751654565	321	Q>*		No	ClinGen ExAC gnomAD
rs1206843637 CA376977844	322	L>H		No	ClinGen TOPMed
CA376977819 rs1367065638	326	E>K		No	ClinGen gnomAD
CA376977804 rs1414116789	328	S>G		No	ClinGen gnomAD
rs775024705 CA5510332	336	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs759049371 CA5510330	342	A>T		No	ClinGen ExAC gnomAD
rs1331136232 CA376977320	343	Q>E		No	ClinGen TOPMed
rs774214839 CA5510329	345	L>S		No	ClinGen ExAC gnomAD
rs935171974 CA207310777	346	R>S		No	ClinGen Ensembl
TCGA novel	347	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5510328 rs770841893	347	P>S		No	ClinGen ExAC TOPMed gnomAD
CA376977291 rs770841893	347	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	348	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA207310770 rs983534852	348	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	358	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139404105 CA5510324	358	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA376977203 rs1251195656	359	S>C		No	ClinGen TOPMed
CA5510323 rs780145986	360	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1564737990 CA376977194	360	P>S		No	ClinGen Ensembl
rs974460063 CA207310745	361	S>N		No	ClinGen TOPMed
CA5510321 rs750521863	362	S>P		No	ClinGen ExAC gnomAD
CA5510320 rs779205918	363	S>G		No	ClinGen ExAC TOPMed gnomAD
CA376977119 rs754442755	366	I>L		No	ClinGen ExAC TOPMed gnomAD
CA5510318 rs754442755	366	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1269060423 CA376975123	371	S>T		No	ClinGen gnomAD
CA5510307 rs747906759	373	A>P		No	ClinGen ExAC gnomAD
rs781095777 CA5510306	374	S>N		No	ClinGen ExAC gnomAD
TCGA novel	375	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	376	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5510304 rs746128939	377	V>A		No	ClinGen ExAC TOPMed
rs779118114 CA5510303	378	G>A		No	ClinGen ExAC gnomAD
TCGA novel	378	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376974951 rs1370296808	380	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs754359397 CA5510301	381	P>T		No	ClinGen ExAC gnomAD
CA207306361 rs368599035	383	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs368599035 CA376974904	383	T>P		No	ClinGen ESP gnomAD
CA5510300 rs141402057	385	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1356938022 CA376974776	390	M>I		No	ClinGen gnomAD
rs756445063 CA5510299	390	M>K		No	ClinGen ExAC gnomAD
rs752992147 CA5510298	391	S>C		No	ClinGen ExAC gnomAD
rs1446701181 CA376974745	392	Y>C		No	ClinGen gnomAD
rs767992631 CA5510297	393	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA376974714 rs1186567446	394	N>D		No	ClinGen gnomAD
CA5510296 rs759165857	394	N>S		No	ClinGen ExAC gnomAD
CA5510293 rs370071074	396	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA207306336 rs370071074	396	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5510295 rs374602904	396	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374602904 CA5510294	396	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	399	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376234238 COSM1200009 CA5510289	400	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
TCGA novel	401	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376974637 rs1181366138	402	H>N		No	ClinGen TOPMed
CA5510288 rs768625365	403	M>I		No	ClinGen ExAC gnomAD
CA376974628 rs1313995854	403	M>V		No	ClinGen gnomAD
rs1244536686 CA376974618	404	G>E		No	ClinGen TOPMed
rs774749017 CA5510287	405	T>A		No	ClinGen ExAC gnomAD
CA5510286 rs774749017	405	T>P		No	ClinGen ExAC gnomAD
rs574676584 CA5510285	407	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1343402644 CA376974602	407	H>Y		No	ClinGen gnomAD
rs1176370905 CA376974586	408	G>A		No	ClinGen TOPMed
CA376974577 rs1376461195	409	I>F		No	ClinGen TOPMed gnomAD
CA5510283 rs777968794	409	I>T		No	ClinGen ExAC gnomAD
CA376974580 rs1376461195	409	I>V		No	ClinGen TOPMed gnomAD
rs374596318 CA207306300	410	T>I		No	ClinGen ESP TOPMed
rs747358471 CA5510259	411	R>K		No	ClinGen ExAC gnomAD
rs757953028 CA5510257	413	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA376974119 rs1336428205	414	P>S		No	ClinGen gnomAD
CA5510255 rs374978744	415	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM255328 CA376974109 rs1301957735	415	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1309133118 CA376974083	417	S>N		No	ClinGen gnomAD
CA5510254 rs756826393	417	S>R		No	ClinGen ExAC gnomAD
rs753654129 CA5510253	418	N>S		No	ClinGen ExAC gnomAD
rs1389155179 CA376973985	424	K>E		No	ClinGen TOPMed
rs894887764 CA207305670	425	R>Q		No	ClinGen TOPMed
rs201466964 CA5510251	426	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA376973876 rs1158671629	432	P>H		No	ClinGen gnomAD
CA5510247 rs773513755	433	N>I		No	ClinGen ExAC gnomAD
rs761964569 CA5510245	437	P>L		No	ClinGen ExAC gnomAD
CA5510242 rs199549238	442	P>A		No	ClinGen ExAC TOPMed gnomAD
rs780370859 CA5510241	442	P>L		No	ClinGen ExAC gnomAD
rs1589031055 CA376973729	443	P>L		No	ClinGen Ensembl
CA376973736 rs1201794757	443	P>S		No	ClinGen gnomAD
CA5510238 rs61740504	446	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs928783025 CA207305636	446	P>S		No	ClinGen TOPMed gnomAD
CA376973685 rs1261904205	447	P>R		No	ClinGen TOPMed gnomAD
CA376973652 rs1330402020	449	M>T		No	ClinGen gnomAD
rs1268315591 CA376973616	451	P>L		No	ClinGen gnomAD
CA5510234 rs756667785 COSM212094	452	T>M	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA376973571 rs1362746781	453	V>A		No	ClinGen gnomAD
rs1442888445 CA376973590	453	V>I		No	ClinGen gnomAD
rs534545668 CA5510233	454	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs777494275 CA5510232	458	T>A		No	ClinGen ExAC TOPMed gnomAD
rs752730367 CA5510231	459	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752730367 CA5510230	459	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1466005873 CA376973472	460	Q>*		No	ClinGen gnomAD
rs767176927 CA5510229	462	T>I		No	ClinGen ExAC gnomAD
CA376973423 rs1378757870	462	T>S		No	ClinGen gnomAD
rs759379134 CA5510228	463	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5510227 rs138632063	464	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1447161068 CA376973371	465	Q>R		No	ClinGen gnomAD
TCGA novel	466	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376973359 rs1335818912	466	H>R		No	ClinGen TOPMed
CA5510225 rs762005675	466	H>Y		No	ClinGen ExAC gnomAD
CA5510224 rs776658516	467	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1256572017 CA376973308	468	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5510222 rs149547354	469	H>R		No	ClinGen ESP ExAC gnomAD
CA5510221 rs1053266	470	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5510219 rs746260833	470	P>L		No	ClinGen ExAC gnomAD
rs1053266 CA5510220 VAR_062971	470	P>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs867113141 CA207305545	471	S>F		No	ClinGen Ensembl
rs779207356 CA5510218	473	Q>H		No	ClinGen ExAC gnomAD
CA376973240 rs1328380420	473	Q>R		No	ClinGen gnomAD
rs777400554 CA5510215	474	P>H		No	ClinGen ExAC gnomAD
rs777400554 CA5510216	474	P>R		No	ClinGen ExAC gnomAD
CA5510217 rs770614138	474	P>S		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q16204

1 regional properties for Q16204

Type	Name	Position	InterPro Accession
conserved_site	Short-chain dehydrogenase/reductase, conserved site	181 - 209	IPR020904

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton	May be a cytoskeletal protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

3 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.
structural constituent of cytoskeleton	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.

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
MADSASESDT	DGAGGNSSSS	AAMQSSCSST	SGGGGGGGGG	GGGGKSGGIV	ISPFRLEELT
70	80	90	100	110	120
NRLASLQQEN	KVLKIELETY	KLKCKALQEE	NRDLRKASVT	IQARAEQEEE	FISNTLFKKI
130	140	150	160	170	180
QALQKEKETL	AVNYEKEEEF	LTNELSRKLM	QLQHEKAELE	QHLEQEQEFQ	VNKLMKKIKK
190	200	210	220	230	240
LENDTISKQL	TLEQLRREKI	DLENTLEQEQ	EALVNRLWKR	MDKLEAEKRI	LQEKLDQPVS
250	260	270	280	290	300
APPSPRDISM	EIDSPENMMR	HIRFLKNEVE	RLKKQLRAAQ	LQHSEKMAQY	LEEERHMREE
310	320	330	340	350	360
NLRLQRKLQR	EMERREALCR	QLSESESSLE	MDDERYFNEM	SAQGLRPRTV	SSPIPYTPSP
370	380	390	400	410	420
SSSRPISPGL	SYASHTVGFT	PPTSLTRAGM	SYYNSPGLHV	QHMGTSHGIT	RPSPRRSNSP
430	440	450	460	470
DKFKRPTPPP	SPNTQTPVQP	PPPPPPPPMQ	PTVPSAATSQ	PTPSQHSAHP	SSQP