AiPD: Autoinhibited Protein Database

P19012

Gene name	KRT15 (KRTB)
Protein name	Keratin, type I cytoskeletal 15
Names	Cytokeratin-15, CK-15, Keratin-15, K15
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3866
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-69 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-69 (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 P19012

Entry ID	Method	Resolution	Chain	Position	Source
AF-P19012-F1	Predicted				AlphaFoldDB

423 variants for P19012

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA399475741 rs1483219262	2	T>S		No	ClinGen gnomAD
rs1211653157 CA399475735	3	T>A		No	ClinGen TOPMed gnomAD
rs757405421 CA8561416	3	T>I		No	ClinGen ExAC gnomAD
CA290652472 rs370565109	4	T>K		No	ClinGen ESP
CA8561415 rs752544766	7	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA399475701 rs752544766	7	Q>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	11	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	13	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399475597 rs77281280	15	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376192010 CA8561410	15	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8561411 rs77281280	15	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399475587 rs1452716504	16	G>A		No	ClinGen TOPMed
CA8561409 rs369898294	17	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8561408 rs771455618	18	T>A		No	ClinGen ExAC gnomAD
rs774667062 CA8561406 COSM1610237	19	R>*	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399475559 rs1466393767	19	R>Q		No	ClinGen TOPMed gnomAD
rs1001482736 CA290652440	21	G>S		No	ClinGen TOPMed
rs1012545231 CA290652439	21	G>V		No	ClinGen gnomAD
CA399475528 rs1423698306	22	S>F		No	ClinGen gnomAD
CA8561403 rs749595011	23	L>V		No	ClinGen ExAC gnomAD
TCGA novel	25	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8561397 CA8561396 rs778649261	26	G>R		No	ClinGen ExAC gnomAD
CA8561398 rs778649261	26	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754941022 CA8561395	27	G>A		No	ClinGen ExAC gnomAD
CA399475479 rs1243822844	28	G>V		No	ClinGen TOPMed gnomAD
CA290652390 rs1023725953	29	G>V		No	ClinGen TOPMed
rs1372388443 CA399475457	30	F>L		No	ClinGen gnomAD
rs1314733690 CA399475451	31	G>D		No	ClinGen gnomAD
RCV000965380 rs73294423 CA8561391	32	G>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147124537 CA8561393 CA399475447	32	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147124537 CA8561392	32	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767225716 CA8561390	33	G>E		No	ClinGen ExAC gnomAD
rs1597776972 CA399475434	34	S>G		No	ClinGen Ensembl
CA399475431 rs1329875866	34	S>N		No	ClinGen gnomAD
CA399475417 rs1467279693	35	L>P		No	ClinGen TOPMed
rs776189330 CA8561384	37	G>A		No	ClinGen ExAC
CA8561385 rs763543001	37	G>R		No	ClinGen ExAC gnomAD
CA399475389 rs746266604	38	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8561381 rs746266604	38	G>V		No	ClinGen ExAC TOPMed gnomAD
CA399475378 rs1167526205	40	G>R		No	ClinGen gnomAD
CA8561380 rs374450364	41	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs201420219 CA8561379	42	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8561378 rs777893382	42	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM1176786 CA8561377 rs777893382	42	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs758520635 CA8561376	45	S>P		No	ClinGen ExAC gnomAD
CA399475324 rs1161040378	46	A>V		No	ClinGen TOPMed
CA290652255 rs939602644	48	S>P		No	ClinGen Ensembl
rs1391872089 CA399475304	49	A>T		No	ClinGen TOPMed
CA290652254 rs773622745	50	R>G		No	ClinGen TOPMed
rs141240187 CA8561372	50	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8561371 rs755851094	52	V>I		No	ClinGen ExAC gnomAD
rs750235624 CA8561370	53	S>A		No	ClinGen ExAC gnomAD
CA8561369 rs767015435	55	G>A		No	ClinGen ExAC gnomAD
TCGA novel	55	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	57	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751231336 CA8561367	58	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762594315 CA8561366	59	G>*		No	ClinGen ExAC TOPMed gnomAD
CA399475213 rs1327497689	59	G>E		No	ClinGen TOPMed
CA8561365 rs762594315	59	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8561364 rs776100850	62	G>A		No	ClinGen ExAC gnomAD
CA8561363 rs765867902	63	G>D		No	ClinGen ExAC gnomAD
TCGA novel CA399475154 rs1159835729	64	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs1454522745 CA399475159	64	M>L		No	ClinGen gnomAD
rs1597776786 CA399475151	65	R>G		No	ClinGen Ensembl
CA8561361 rs370906587	65	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1392791089 CA399475139	66	V>A		No	ClinGen gnomAD
rs377160493 CA8561359	70	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA399475113 rs1597776766	70	G>S		No	ClinGen Ensembl
rs932661048 CA290652186	71	G>R		No	ClinGen Ensembl
CA8561358 rs202086237	72	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748245980 CA8561357	73	A>G		No	ClinGen ExAC gnomAD
rs748245980 CA8561356	73	A>V		No	ClinGen ExAC gnomAD
TCGA novel	74	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286626782 CA399475095	74	G>S		No	ClinGen gnomAD
rs1597776731 CA399475088	75	S>G		No	ClinGen Ensembl
CA8561352 rs141025962	75	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8561353 rs745863708	75	S>T		No	ClinGen ExAC gnomAD
rs1303810856 CA399475052	78	G>D		No	ClinGen gnomAD
CA8561350 rs555279126	78	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	80	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483317138 CA399475038	80	G>D		No	ClinGen TOPMed
CA8561347 rs757934023	83	G>R		No	ClinGen ExAC gnomAD
CA399475007 rs757934023	83	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760106747 CA8561345	84	G>A		No	ClinGen ExAC TOPMed gnomAD
rs760106747 CA8561344	84	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8561346 rs115538401	84	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399474988 rs146785055	85	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8561341 rs146785055	85	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	85	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8561340 rs773431824	86	G>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	87	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143546926 CA8561339	88	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1195739001 CA399474919	92	G>S		No	ClinGen gnomAD
rs1410917762 CA399474883	95	G>C		No	ClinGen TOPMed
rs774413086 CA8561337	96	G>D		No	ClinGen ExAC
rs139430495 CA8561335	97	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772272150 CA290652112	98	G>R		No	ClinGen TOPMed
rs146745077 CA8561333	99	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1323679621 CA399474847	99	G>S		No	ClinGen TOPMed
rs770720550 CA399474838	100	L>F		No	ClinGen ExAC TOPMed
rs770720550 CA8561332	100	L>I		No	ClinGen ExAC TOPMed
rs878921155 CA290652103	102	S>T		No	ClinGen Ensembl
TCGA novel	108	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149727641 CA399474770 CA290652096	109	M>L		No	ClinGen ESP TOPMed gnomAD
rs1217102605 CA399474766	109	M>T		No	ClinGen gnomAD
TCGA novel	110	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777510451 CA8561330	110	Q>R		No	ClinGen ExAC gnomAD
CA8561329 rs139556869	113	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201164162 CA8561328	115	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199506230 CA8561327	115	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199506230 CA399474723	115	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1214367356 CA399474722	116	L>M		No	ClinGen Ensembl
rs754327633 CA8561325	117	A>P		No	ClinGen ExAC gnomAD
rs761038537 CA8561323	119	Y>*		No	ClinGen ExAC gnomAD
rs1035351573 CA290652013	119	Y>C		No	ClinGen Ensembl
CA290651992 rs748169354	121	D>H		No	ClinGen gnomAD
TCGA novel	121	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767940611 CA8561321	122	K>E		No	ClinGen ExAC gnomAD
CA290651988 rs200209333	124	R>C		No	ClinGen TOPMed gnomAD
CA8561319 rs774608568	124	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774608568 CA8561320	124	R>L		No	ClinGen ExAC TOPMed gnomAD
CA290651980 rs767131619	128	E>K		No	ClinGen Ensembl
CA399474638 rs1196918516	130	N>H		No	ClinGen gnomAD
rs776584139 CA8561316	130	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1259060616 CA399474614	134	E>K		No	ClinGen gnomAD
rs1328890627 CA399474609	134	E>V		No	ClinGen Ensembl
CA8561314 rs746751590	135	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8561313 rs773127784	137	I>M		No	ClinGen ExAC gnomAD
rs1284096520 CA399474589	137	I>T		No	ClinGen TOPMed gnomAD
rs1230675052 CA399474583	138	H>R		No	ClinGen TOPMed
CA8561312 rs374347007	139	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs747770416 CA8561311 CA399474555	141	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1445498753 CA399474557	141	Y>C		No	ClinGen TOPMed gnomAD
rs1445498753 CA399474556	141	Y>F		No	ClinGen TOPMed gnomAD
CA399474542 rs1333063839	143	K>*		No	ClinGen gnomAD
CA8561310 rs202231383	144	Q>R		No	ClinGen ExAC gnomAD
rs748757866 CA8561308	145	T>N		No	ClinGen ExAC gnomAD
rs754460236 CA8561309	145	T>P		No	ClinGen ExAC gnomAD
CA399474519 rs1176886502	146	P>S		No	ClinGen TOPMed gnomAD
rs1176886502 CA399474521	146	P>T		No	ClinGen TOPMed gnomAD
CA8561306 rs1050784 VAR_047429	147	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1050784 CA399474512	147	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399474511 rs1050784	147	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8561303 rs757661638	151	C>F		No	ClinGen ExAC gnomAD
rs1200805840 CA399474475	151	C>S		No	ClinGen gnomAD
rs764246868 CA8561301	152	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775437728 CA8561300	153	Y>C		No	ClinGen ExAC gnomAD
rs1191153465 CA399474439	153	Y>H		No	ClinGen TOPMed
CA8561299 rs775437728	153	Y>S		No	ClinGen ExAC gnomAD
CA399474409 rs1238820557	154	S>R		No	ClinGen gnomAD
CA8561297 rs373600329	155	Q>*		No	ClinGen ESP ExAC gnomAD
rs1310993575 CA399474397	155	Q>P		No	ClinGen gnomAD
rs773320588 CA8561296	158	K>E		No	ClinGen ExAC TOPMed gnomAD
rs139517360 CA8561295	158	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399474339 rs1177259183	159	T>I		No	ClinGen TOPMed
rs1358569986 CA399474329	160	I>M		No	ClinGen gnomAD
COSM3795602 rs200448494 CA8561293	160	I>T	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8561294 rs147353121	160	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1389596165 CA399474310	163	L>V		No	ClinGen TOPMed
CA8561290 COSM124022 rs139367098	164	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs142682445 CA8561291	164	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs761826223 CA8561259	167	I>T		No	ClinGen ExAC gnomAD
CA399473741 rs1481491028	168	M>K		No	ClinGen gnomAD
CA399473747 rs1481491028	168	M>T		No	ClinGen gnomAD
rs1220652675 CA399473723	169	A>T		No	ClinGen gnomAD
CA399473666 rs1597775007	172	I>S		No	ClinGen Ensembl
CA290651022 rs897610668	173	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	173	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248233005 CA399473659	173	D>N		No	ClinGen gnomAD
rs763769801 CA8561256	174	N>S		No	ClinGen ExAC gnomAD
CA8561254 rs769451472	176	R>G		No	ClinGen ExAC gnomAD
rs200359694 CA8561252	176	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200359694 CA8561251	176	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769451472 CA8561253	176	R>W		No	ClinGen ExAC gnomAD
CA399473540 rs1375013813	180	E>D		No	ClinGen TOPMed
rs778375545 CA8561248	180	E>G		No	ClinGen ExAC gnomAD
CA399473523 rs1046921378	181	I>M		No	ClinGen TOPMed gnomAD
rs374763275 CA8561247	182	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1158863175 CA399473510	182	D>V		No	ClinGen TOPMed gnomAD
rs374763275 CA399473518	182	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1420505651 CA399473491	183	N>S		No	ClinGen gnomAD
rs78272919 CA8561246	184	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399473475 rs78272919	184	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374734265 CA8561245	185	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA399473437 rs1597774928	186	L>Q		No	ClinGen Ensembl
CA8561243 rs754167048	188	A>V		No	ClinGen ExAC TOPMed gnomAD
rs147023381 CA8561238	190	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8561237 rs147023381	190	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8561239 rs147023381	190	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199909892 CA290650924	191	F>V		No	ClinGen 1000Genomes
rs549866723 CA8561235	194	K>*		No	ClinGen 1000Genomes ExAC gnomAD
CA8561208 rs775035200	195	Y>C		No	ClinGen ExAC gnomAD
CA8561206 rs749696496	196	E>K		No	ClinGen ExAC gnomAD
rs775800199 CA399473174	197	N>H		No	ClinGen ExAC TOPMed gnomAD
CA8561205 rs775800199	197	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA290650780 rs199922004	200	A>T		No	ClinGen ESP TOPMed gnomAD
COSM3672445 CA8561203 rs201818657	202	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8561202 rs200854917	202	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8561201 rs781318262	203	Q>H		No	ClinGen ExAC gnomAD
CA8561199 COSM215684 rs138271368	205	V>I	kidney liver oesophagus large_intestine endometrium central_nervous_system prostate breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs778844537 CA290650759	206	E>*		No	ClinGen ExAC gnomAD
CA8561198 rs778844537	206	E>K		No	ClinGen ExAC gnomAD
CA290650753 rs897490395	210	N>S		No	ClinGen TOPMed gnomAD
CA290650742 rs753633915	211	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753633915 CA8561196	211	G>S		No	ClinGen ExAC TOPMed gnomAD
rs779887782 CA8561195	212	L>F		No	ClinGen ExAC gnomAD
CA8561194 rs755775681	213	R>C		No	ClinGen ExAC TOPMed gnomAD
rs373548890 CA290650741	213	R>H		No	ClinGen ESP TOPMed gnomAD
rs373548890 CA399472953	213	R>P		No	ClinGen ESP TOPMed gnomAD
rs767019289 CA8561192	214	R>*		No	ClinGen ExAC TOPMed gnomAD
rs767019289 CA399472948	214	R>G		No	ClinGen ExAC TOPMed gnomAD
CA399472945 COSM3795601 rs1445365258	214	R>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1002172447 CA290650726	215	V>I		No	ClinGen Ensembl
rs761263791 CA8561191	216	L>P		No	ClinGen ExAC gnomAD
rs764716000 CA8561189	217	D>H		No	ClinGen ExAC gnomAD
rs763346260 CA399472870	219	L>M		No	ClinGen ExAC gnomAD
rs763346260 CA8561188	219	L>V		No	ClinGen ExAC gnomAD
rs1198002851 CA399472855	220	T>S		No	ClinGen gnomAD
rs775994227 CA8561187	223	R>G		No	ClinGen ExAC TOPMed gnomAD
CA399472797 rs150440688	223	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA290650678 rs375580914	226	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8561183 rs375580914	226	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384417680 CA399472772	227	E>K		No	ClinGen gnomAD
CA8561182 rs776759431	229	Q>*		No	ClinGen ExAC gnomAD
CA8561181 rs770992337	230	I>M		No	ClinGen ExAC gnomAD
rs1193860183 CA399472709	231	E>K		No	ClinGen TOPMed
CA399472676 rs1330646503	232	G>A		No	ClinGen gnomAD
CA399472689 rs1336068521	232	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA290650664 rs977412081	235	E>K		No	ClinGen TOPMed gnomAD
CA8561180 rs747103036	236	E>Q		No	ClinGen ExAC gnomAD
rs778754977 CA8561179	239	Y>*		No	ClinGen ExAC gnomAD
rs199856935 CA290650649	240	L>P		No	ClinGen 1000Genomes
rs768574891 CA8561178	241	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	242	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387332378	242	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470786935 CA399472526	243	N>D		No	ClinGen TOPMed
rs779872396 CA8561176	243	N>K		No	ClinGen ExAC gnomAD
rs749277399 CA8561177	243	N>S		No	ClinGen ExAC TOPMed gnomAD
rs140616866 CA8561174 COSM979217	245	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs868151216 CA290650137	247	E>K		No	ClinGen TOPMed gnomAD
CA399472344 rs1338360662	248	M>I		No	ClinGen gnomAD
rs753216610 CA8561149	248	M>L		No	ClinGen ExAC gnomAD
CA8561148 rs765675080	251	F>L		No	ClinGen ExAC gnomAD
CA399472254 rs1430068973	253	S>N		No	ClinGen TOPMed gnomAD
CA8561147 COSM706373 rs755301058	256	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1177643181 CA399472205	257	G>D		No	ClinGen gnomAD
rs768028727 CA8561145	257	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	258	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399472170 rs1223632137	260	N>S		No	ClinGen TOPMed
rs1186512233 CA399472155	261	V>G		No	ClinGen gnomAD
CA8561142 rs773458908	261	V>M		No	ClinGen ExAC gnomAD
CA399472143 rs1271325033	262	E>D		No	ClinGen TOPMed
CA8561140 rs761900612	263	M>I		No	ClinGen ExAC TOPMed gnomAD
rs775443554 CA8561139	264	D>N		No	ClinGen ExAC gnomAD
CA8561137 rs776280590	265	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8561136 rs776280590	265	A>T		No	ClinGen ExAC TOPMed gnomAD
rs770898843 CA8561135	265	A>V		No	ClinGen ExAC gnomAD
rs746630502 CA8561134	267	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1362686475 CA399472070	269	V>G		No	ClinGen gnomAD
CA8561131 rs747614837	269	V>M		No	ClinGen ExAC gnomAD
rs754413573 CA8561128	273	R>C		No	ClinGen ExAC gnomAD
CA8561127 rs146803862	273	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs572935515 CA8561126	274	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750592404 CA8561125	275	L>P		No	ClinGen ExAC gnomAD
rs891347135 CA399471992	276	A>S		No	ClinGen TOPMed gnomAD
CA290650004 rs891347135	276	A>T		No	ClinGen TOPMed gnomAD
CA290649995 rs946342723	280	E>Q		No	ClinGen TOPMed gnomAD
rs764295675 COSM979215 CA399471900	283	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764295675 CA8561121	283	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8561119 rs776670190	284	A>D		No	ClinGen ExAC gnomAD
rs759369731 CA8561120	284	A>P		No	ClinGen ExAC TOPMed gnomAD
CA290649943 rs368224373	285	M>V		No	ClinGen ESP
rs770811080 CA8561118	286	A>S		No	ClinGen ExAC
CA8561117 rs145001788	286	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	286	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1481678602 CA399471853	287	E>*		No	ClinGen TOPMed
rs771844890 CA8561115	288	K>*		No	ClinGen ExAC
rs778264547 CA8561113	289	N>K		No	ClinGen ExAC TOPMed
rs1181763392 CA399471822	289	N>S		No	ClinGen TOPMed
CA399471824 rs1181763392	289	N>T		No	ClinGen TOPMed
rs151228901 CA8561112	290	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs202191389 CA8561111	290	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202191389 CA399471809	290	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399471814 rs151228901	290	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs750794463 CA8561108	291	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8561109 rs200235542	291	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8561106 rs757412717	292	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8561107 rs781606724	292	D>G		No	ClinGen ExAC gnomAD
CA399471796 rs1449841577	292	D>Y		No	ClinGen TOPMed
CA399471786 rs1443499596	293	V>I		No	ClinGen gnomAD
TCGA novel	294	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8561103 rs149096052	294	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs149096052 CA8561102	294	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA399471758 rs1286444130	295	A>D		No	ClinGen TOPMed
rs1597773676 CA399471741	297	F>V		No	ClinGen Ensembl
CA399471725 rs1337877118	298	F>V		No	ClinGen TOPMed
CA8561073 rs774970453	301	T>I		No	ClinGen ExAC gnomAD
rs769345550 CA8561072	303	E>*		No	ClinGen ExAC gnomAD
rs746347224 CA8561071	303	E>V		No	ClinGen ExAC gnomAD
rs1397556671 CA399471593	305	N>I		No	ClinGen gnomAD
CA399471586 rs1280791852	306	K>E		No	ClinGen TOPMed gnomAD
CA399471570 rs1289025032	307	E>G		No	ClinGen TOPMed gnomAD
CA8561070 rs189721133	307	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1357169602 CA399471461	314	M>R		No	ClinGen gnomAD
CA399471414 rs1175470073	317	T>N		No	ClinGen gnomAD
CA8561068 rs747416124	318	S>R		No	ClinGen ExAC gnomAD
rs1282072796 CA399471399	319	K>E		No	ClinGen TOPMed
CA8561067 rs373081379	320	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399471374 rs1567718278	322	I>S		No	ClinGen Ensembl
rs369652117 CA8561066	323	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs200152929 CA8561064	325	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149918613 CA8561062	327	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs540200615 CA8561061	327	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151089400 CA8561060	328	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8561058 rs763856197	329	M>I		No	ClinGen ExAC gnomAD
rs1383596251 CA399471335	329	M>T		No	ClinGen TOPMed
rs762576421 CA8561057	330	Q>K		No	ClinGen ExAC gnomAD
CA399471327 rs1383503098	330	Q>R		No	ClinGen gnomAD
rs775166862 CA8561056	331	E>G		No	ClinGen ExAC TOPMed gnomAD
rs974853892 CA290649604 COSM1679803	335	E>K	large_intestine skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA8561055 rs564196717	337	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA8561054 rs759069758 COSM226800	341	S>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8561053 rs776947737	341	S>R		No	ClinGen ExAC gnomAD
CA290649318 rs56929273	344	A>D		No	ClinGen gnomAD
CA8561026 rs749533246	344	A>T		No	ClinGen ExAC TOPMed gnomAD
CA399471220 rs56929273	344	A>V		No	ClinGen gnomAD
rs1363744132 CA399471217	345	G>W		No	ClinGen gnomAD
CA8561024 rs769807432	351	A>D		No	ClinGen ExAC TOPMed gnomAD
CA399471178 rs769807432	351	A>V		No	ClinGen ExAC TOPMed gnomAD
rs79344504 CA8561021	352	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8561022 rs79344504 COSM1679802	352	E>Q	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1567718102 CA399471158	354	E>D		No	ClinGen Ensembl
rs752494682 CA8561020	356	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778748722 CA8561019	356	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA626215056 rs1184518329	357	Y>*		No	ClinGen gnomAD
CA8561018 rs754601306	357	Y>F		No	ClinGen ExAC gnomAD
rs921724315 CA290649291	358	A>T		No	ClinGen TOPMed
rs572889590 CA8561017	359	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA8561016 rs765872850	359	T>M		No	ClinGen ExAC gnomAD
rs768139350 CA8561013	362	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs762474276 CA8561012	363	Q>H		No	ClinGen ExAC gnomAD
CA8561011 rs774841034	364	I>N		No	ClinGen ExAC TOPMed gnomAD
rs1235585568 CA399471050	365	Q>R		No	ClinGen gnomAD
rs562624944 COSM1383193 CA8561008	368	I>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA8561007 rs200508995	371	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	373	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400343644 CA399470870	378	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8561005 rs371742393 COSM1212792	379	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs771994753 CA8561004 COSM979214	379	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA399470845 rs140276645	380	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8561002 rs539545400	380	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539545400 CA8561003	380	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8561000 rs753481169	381	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA399470821 rs1478719795	382	M>R		No	ClinGen gnomAD
CA290649159 rs929806601	382	M>V		No	ClinGen Ensembl
CA399470793 rs1220132803	384	A>T		No	ClinGen TOPMed
rs779586320 CA8560999	385	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	385	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567718027 CA399470747	387	Q>R		No	ClinGen Ensembl
CA399470719 rs749895999	389	Y>C		No	ClinGen ExAC gnomAD
rs749895999 CA8560997	389	Y>F		No	ClinGen ExAC gnomAD
CA8560995 rs762390404	391	M>I		No	ClinGen ExAC gnomAD
rs1387706512 CA399470688	391	M>K		No	ClinGen gnomAD
rs1318649409 CA399470671	392	L>P		No	ClinGen gnomAD
CA8560994 rs752153718	392	L>V		No	ClinGen ExAC
TCGA novel	393	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8560993 rs764514020	394	D>A		No	ClinGen ExAC gnomAD
rs142005107 CA8560990	395	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs150705394 CA8560992	395	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA399470636 rs142005107	395	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs150705394 CA8560991	395	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA399470617 rs1257110780	396	K>N		No	ClinGen TOPMed
rs144789524 CA8560988	398	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8560989 rs148156722	398	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1327225813 CA399470577	400	E>*		No	ClinGen gnomAD
CA399470572 rs1597772986	400	E>G		No	ClinGen Ensembl
rs1471720981 CA399470560	401	Q>*		No	ClinGen gnomAD
CA8560986 rs748035439	401	Q>L		No	ClinGen ExAC gnomAD
TCGA novel	402	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758071880 CA8560983	404	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1480155044 CA399470487	406	Y>*		No	ClinGen TOPMed
rs138894344 CA8560980	407	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8560979 rs780820668	407	R>H	Variant assessed as Somatic; 4.699e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA290649063 rs747551591	409	L>P		No	ClinGen gnomAD
rs1451631884 CA399470447	410	L>F		No	ClinGen TOPMed
CA399470427 rs758727161	411	E>*		No	ClinGen ExAC TOPMed gnomAD
CA8560974 rs753002634	411	E>D		No	ClinGen ExAC
rs758727161 CA8560975	411	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA290649026 rs758727161	411	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA399470340 rs1401574080	414	D>N		No	ClinGen TOPMed
CA8560973 rs779996022	415	A>G		No	ClinGen ExAC gnomAD
rs1205439736 CA399470315	415	A>T		No	ClinGen gnomAD
CA8560972 rs2305556 VAR_047430	416	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1423507138 CA399490623	417	M>T		No	ClinGen gnomAD
rs138611195 CA8560949	420	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs897420 CA8560948	421	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8560947 VAR_047431 rs897420	421	A>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs897420 CA399490554	421	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769428138 CA8560946	424	E>G		No	ClinGen ExAC gnomAD
rs1360814838 CA399490221	428	G>V		No	ClinGen gnomAD
CA399490208 rs1289151818	429	G>V		No	ClinGen gnomAD
CA399490199 rs1341531923	430	G>D		No	ClinGen TOPMed
rs1450710719 CA399490166	432	S>N		No	ClinGen gnomAD
CA399490154 rs771422905	433	S>G		No	ClinGen ExAC TOPMed gnomAD
rs771422905 CA8560921	433	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8560920 rs747695154	433	S>T		No	ClinGen ExAC gnomAD
CA399490075 rs1273224615	437	H>R		No	ClinGen TOPMed gnomAD
CA399490052 rs1470279611	439	N>D		No	ClinGen TOPMed gnomAD
CA399490050 rs1470279611	439	N>H		No	ClinGen TOPMed gnomAD
CA8560918 rs776693389	439	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1341877496 CA399490000	442	E>G		No	ClinGen gnomAD
rs1487798321 CA399490005	442	E>K		No	ClinGen TOPMed
rs1261290089 CA399489977	444	V>L		No	ClinGen gnomAD
rs1466484502 CA399489955	445	D>V		No	ClinGen gnomAD
CA8560914 rs756501099	446	G>E		No	ClinGen ExAC TOPMed gnomAD
rs560627933 CA8560915	446	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1597771748 CA399489933	447	Q>*		No	ClinGen Ensembl
rs746030822 CA8560913	447	Q>R		No	ClinGen ExAC gnomAD
rs1597771737 CA399489891	449	V>G		No	ClinGen Ensembl
rs536009613 CA290697698	452	H>P		No	ClinGen gnomAD
rs757217904 CA8560911	453	K>E		No	ClinGen ExAC gnomAD
TCGA novel	453	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM979211 rs1305736331 CA399489808	455	E>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD

No associated diseases with P19012

2 regional properties for P19012

Type	Name	Position	InterPro Accession
conserved_site	Intermediate filament protein, conserved site	403 - 411	IPR018039
domain	Intermediate filament, rod domain	104 - 417	IPR039008

Functions

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

5 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.
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.
intermediate filament	A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins.
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.

2 GO annotations of molecular function

Name	Definition
scaffold protein binding	Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes.
structural constituent of cytoskeleton	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.

3 GO annotations of biological process

Name	Definition
epidermis development	The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species.
epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium.
intermediate filament organization	Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P05783	KRT18	Keratin, type I cytoskeletal 18	Homo sapiens (Human)	PR
Q04695	KRT17	Keratin, type I cytoskeletal 17	Homo sapiens (Human)	PR
P02533	KRT14	Keratin, type I cytoskeletal 14	Homo sapiens (Human)	PR
Q9QWL7	Krt17	Keratin, type I cytoskeletal 17	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTTTFLQTSS	STFGGGSTRG	GSLLAGGGGF	GGGSLSGGGG	SRSISASSAR	FVSSGSGGGY
70	80	90	100	110	120
GGGMRVCGFG	GGAGSVFGGG	FGGGVGGGFG	GGFGGGDGGL	LSGNEKITMQ	NLNDRLASYL
130	140	150	160	170	180
DKVRALEEAN	ADLEVKIHDW	YQKQTPTSPE	CDYSQYFKTI	EELRDKIMAT	TIDNSRVILE
190	200	210	220	230	240
IDNARLAADD	FRLKYENELA	LRQGVEADIN	GLRRVLDELT	LARTDLEMQI	EGLNEELAYL
250	260	270	280	290	300
KKNHEEEMKE	FSSQLAGQVN	VEMDAAPGVD	LTRVLAEMRE	QYEAMAEKNR	RDVEAWFFSK
310	320	330	340	350	360
TEELNKEVAS	NTEMIQTSKT	EITDLRRTMQ	ELEIELQSQL	SMKAGLENSL	AETECRYATQ
370	380	390	400	410	420
LQQIQGLIGG	LEAQLSELRC	EMEAQNQEYK	MLLDIKTRLE	QEIATYRSLL	EGQDAKMAGI
430	440	450
AIREASSGGG	GSSSNFHINV	EESVDGQVVS	SHKREI