AiPD: Autoinhibited Protein Database

P05783

Gene name	KRT18 (CYK18, PIG46)
Protein name	Keratin, type I cytoskeletal 18
Names	Cell proliferation-inducing gene 46 protein, Cytokeratin-18, CK-18, Keratin-18, K18
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3875
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-153 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-153 (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 P05783

Entry ID	Method	Resolution	Chain	Position	Source
AF-P05783-F1	Predicted				AlphaFoldDB

395 variants for P05783

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA144197 RCV000049578 rs200221269	45	R>P	Hepatitis C virus, susceptibility to [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001331079 CA6590757 rs532875586	69	G>A	Cirrhosis, familial [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_023054 rs61136606 CA216528 RCV000056434	103	T>A	CIRRH [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA124152 RCV000056435 rs57758506 RCV000015686 RCV000015687 VAR_003852	128	H>L	Cirrhosis, noncryptogenic, susceptibility to Cirrhosis, cryptogenic CIRRH; interfers with the ability to form normal filaments [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001331080 rs1942470902	181	D>N	Cirrhosis, familial [ClinVar]	Yes	ClinVar dbSNP
rs57354642 CA216535 VAR_023056 RCV000056440	261	R>Q	CIRRH [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA216523 VAR_023057 rs57370769 RCV000056431	340	G>R	CIRRH [UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs369198778 CA385001849	2	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs369198778 CA6590705	2	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs756991398 CA6590707	3	F>C		No	ClinGen ExAC gnomAD
rs1241148678 CA385001875	4	T>A		No	ClinGen gnomAD
COSM1128552 rs76301931 CA6590708	4	T>I	Variant assessed as Somatic; 0.0 impact. liver prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs76301931 CA6590709	4	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1270182586 CA385001892	6	R>C		No	ClinGen TOPMed gnomAD
CA6590712 rs775547844	7	S>Y		No	ClinGen ExAC gnomAD
rs945689746 CA237289438	9	F>C		No	ClinGen TOPMed gnomAD
CA6590713 rs748718547	11	T>A		No	ClinGen ExAC gnomAD
CA385001960 rs1381635123	11	T>I		No	ClinGen gnomAD
rs1166470792 CA385001985	13	Y>C		No	ClinGen TOPMed
CA6590718 rs777157164	14	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766809169 CA6590717	14	R>W		No	ClinGen ExAC gnomAD
CA385002009 rs1447813465	15	S>F		No	ClinGen gnomAD
rs753311520 CA6590721	15	S>P		No	ClinGen ExAC gnomAD
CA6590723 rs79476176 COSM1128550	17	G>D	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1239570081 CA385002025	17	G>R		No	ClinGen gnomAD
CA385002031 rs79476176	17	G>V		No	ClinGen ExAC TOPMed gnomAD
rs147350452 CA6590725	18	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA385002034 rs1479948631	18	S>T		No	ClinGen TOPMed
CA385002043 rs147350452	18	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565737187 CA385002280	21	A>E		No	ClinGen Ensembl
CA385002319 rs1239572921	24	Y>*		No	ClinGen gnomAD
rs1307456366 CA385002314	24	Y>C		No	ClinGen TOPMed
rs750200705 CA385002322	25	G>C		No	ClinGen ExAC TOPMed gnomAD
rs750200705 CA6590727	25	G>R		No	ClinGen ExAC TOPMed gnomAD
rs750200705 CA385002321	25	G>S		No	ClinGen ExAC TOPMed gnomAD
CA237289540 rs78514003	26	A>T		No	ClinGen TOPMed gnomAD
CA237289549 rs11551634	26	A>V		No	ClinGen Ensembl
rs1368538220 CA385002340	27	R>P		No	ClinGen gnomAD
rs77825282 CA237289563	27	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	28	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA237289582 rs74379840	28	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs74379840 CA6590729	28	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1465913307 CA385002351	29	V>I		No	ClinGen gnomAD
rs1398440164 CA385002379	31	S>C		No	ClinGen TOPMed gnomAD
rs374064321 CA6590731	31	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA237289590 rs74953757	32	A>S		No	ClinGen TOPMed gnomAD
rs1297779360 CA385002394	32	A>V		No	ClinGen TOPMed gnomAD
CA237289593 rs78343594 COSM1666686	34	S>R	salivary_gland [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1427838806 CA385002416	34	S>T		No	ClinGen TOPMed
rs1243265591 CA385002419	35	V>I		No	ClinGen gnomAD
CA385002429 rs1227971336	36	Y>H		No	ClinGen gnomAD
rs891346528 CA237289602	36	Y>S		No	ClinGen TOPMed gnomAD
CA385002444 rs1319072747	37	A>G		No	ClinGen gnomAD
rs1281260117 CA385002439	37	A>T		No	ClinGen gnomAD
rs77999286 CA237289612	38	G>C		No	ClinGen TOPMed gnomAD
CA385002451 rs1486318507	38	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs77999286 CA385002448	38	G>S		No	ClinGen TOPMed gnomAD
rs771828609 CA6590734	39	A>V		No	ClinGen ExAC gnomAD
CA6590735 rs773038025	40	G>R		No	ClinGen ExAC gnomAD
rs1256261258 CA385002478	41	G>A		No	ClinGen gnomAD
rs759814479 CA6590736	41	G>S		No	ClinGen ExAC TOPMed gnomAD
rs770250195 CA6590737	42	S>P		No	ClinGen ExAC gnomAD
CA385002491 rs75441140	43	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1263244013 CA385002493	43	G>D		No	ClinGen gnomAD
CA237289678 rs75441140	43	G>R		No	ClinGen ExAC TOPMed gnomAD
rs75441140 CA6590738	43	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6590739 rs763522746	44	S>A		No	ClinGen ExAC gnomAD
CA385002502 rs1447084165	44	S>C		No	ClinGen gnomAD
rs1478096062 CA385002506	45	R>W		No	ClinGen TOPMed gnomAD
CA237289715 rs760412718	46	I>F		No	ClinGen ExAC gnomAD
CA6590740 rs760412718	46	I>L		No	ClinGen ExAC gnomAD
CA385002530 rs1452035555	47	S>F		No	ClinGen TOPMed
rs761933454 CA6590741	48	V>A		No	ClinGen ExAC gnomAD
CA385002533 rs1359140246	48	V>L		No	ClinGen TOPMed gnomAD
CA385002531 rs1359140246	48	V>M		No	ClinGen TOPMed gnomAD
rs78479490 CA237289760	50	R>C		No	ClinGen TOPMed gnomAD
CA6590742 rs11551633	50	R>L		No	ClinGen ExAC gnomAD
CA385002561 rs1394324153	51	S>F		No	ClinGen gnomAD
CA385002555 rs1555191110	51	S>P		No	ClinGen Ensembl
CA385002570 rs1333552689	52	T>I		No	ClinGen gnomAD
CA385002575 rs1341730231	53	S>G		No	ClinGen gnomAD
CA385002592 rs1429253751	54	F>C		No	ClinGen TOPMed
CA6590743 rs750714548	54	F>L		No	ClinGen ExAC
CA385002594 rs1429253751	54	F>S		No	ClinGen TOPMed
CA6590744 rs755849994	55	R>T		No	ClinGen ExAC
rs78718957 CA385002601	55	R>W		No	ClinGen TOPMed gnomAD
rs76183244 CA6590745	56	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6590746 rs753674663	57	G>C		No	ClinGen ExAC gnomAD
rs1226267547 CA385002670	59	G>E		No	ClinGen gnomAD
CA385002664 rs1317616802	59	G>R		No	ClinGen TOPMed gnomAD
CA385002674 rs1226267547	59	G>V		No	ClinGen gnomAD
CA385002667 rs1317616802	59	G>W		No	ClinGen TOPMed gnomAD
rs779038487 COSM1362617 CA6590749	61	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA385002701 rs779038487	61	G>W		No	ClinGen ExAC TOPMed gnomAD
rs747629868 CA6590750	62	G>S		No	ClinGen ExAC gnomAD
CA385002750 rs1216443356	64	A>G		No	ClinGen TOPMed gnomAD
rs267607417 RCV000056433	65	T>missing		No	ClinVar dbSNP
rs1463167645 CA385002771	65	T>I		No	ClinGen gnomAD
rs777553435 CA6590754	66	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	67	I>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs77364359 CA237289886	67	I>M		No	ClinGen TOPMed gnomAD
rs1260779156 CA385002806	68	A>S		No	ClinGen TOPMed gnomAD
CA385002804 rs1260779156	68	A>T		No	ClinGen TOPMed gnomAD
CA237289899 rs11551624	69	G>R		No	ClinGen gnomAD
CA385002821 rs11551624	69	G>W		No	ClinGen gnomAD
CA385002841 rs1172136071	70	G>D		No	ClinGen gnomAD
TCGA novel	70	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385002853 rs1424932919	72	A>S		No	ClinGen gnomAD
rs1402412772 CA385002858	73	G>R		No	ClinGen gnomAD
rs1462527970 CA385002886	74	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA385002904 rs1420009357	75	G>R		No	ClinGen gnomAD
rs1372602238 CA385002916	76	G>R		No	ClinGen TOPMed
rs1340333805 CA385002946	77	I>T		No	ClinGen gnomAD
CA385002967 rs1161922697	79	N>D		No	ClinGen gnomAD
CA237289914 rs199572098	80	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs774882680 CA6590760	82	E>K		No	ClinGen ExAC gnomAD
rs79346135 CA237289939	84	M>I		No	ClinGen TOPMed gnomAD
rs1188380011 CA385003108	86	S>T		No	ClinGen TOPMed
CA385003173 rs1397020078	90	R>C		No	ClinGen TOPMed gnomAD
rs11551641 CA237289945	90	R>H		No	ClinGen Ensembl
rs1434610693 CA385003194	92	A>P		No	ClinGen TOPMed gnomAD
CA237289957 rs11551623	92	A>V		No	ClinGen Ensembl
CA237289980 rs551257529	93	S>P		No	ClinGen 1000Genomes
CA237290003 rs951438333	96	D>G		No	ClinGen Ensembl
CA385003246 rs1191605617	96	D>N		No	ClinGen gnomAD
rs760985349 CA6590763	99	R>S		No	ClinGen ExAC TOPMed gnomAD
CA237290030 rs796361379	100	S>R		No	ClinGen TOPMed gnomAD
CA6590764 rs144926827	102	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273250739 CA385003383	103	T>N		No	ClinGen TOPMed gnomAD
rs1273250739 CA385003385	103	T>S		No	ClinGen TOPMed gnomAD
rs1418823110 CA385003392	104	E>*		No	ClinGen TOPMed
rs1164534748 CA385003401	104	E>D		No	ClinGen TOPMed
rs1218968384 CA385003396	104	E>G		No	ClinGen gnomAD
CA6590766 COSM1747081 rs765260052	106	R>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs11551638 CA237290046	106	R>W		No	ClinGen TOPMed gnomAD
rs1360506073 CA385003505	110	S>G		No	ClinGen gnomAD
CA6590767 rs752738391	110	S>T		No	ClinGen ExAC gnomAD
CA6590769 rs777429135	113	R>W		No	ClinGen ExAC
rs11551637 CA237290079	114	E>D		No	ClinGen Ensembl
CA385003597 rs1481173368	115	H>L		No	ClinGen gnomAD
rs544079943 CA237290082	115	H>Y		No	ClinGen Ensembl
TCGA novel	117	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1241736628 CA385003629	117	E>K		No	ClinGen gnomAD
rs749637522 CA6590773	118	K>N		No	ClinGen ExAC TOPMed gnomAD
CA385003674 rs1222130911	119	K>N		No	ClinGen gnomAD
rs147945345 CA6590775	119	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	120	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA237290123 rs796088051	121	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1565737645 CA385003720	122	Q>H		No	ClinGen Ensembl
rs1420153393 CA385003714	122	Q>P		No	ClinGen TOPMed gnomAD
rs748671089 CA6590776	123	V>A		No	ClinGen ExAC TOPMed gnomAD
CA237290139 rs748671089	123	V>D		No	ClinGen ExAC TOPMed gnomAD
CA237290136 rs11551629	123	V>F		No	ClinGen Ensembl
rs11551632 CA237290159	124	R>G		No	ClinGen Ensembl
CA6590777 rs772097116	125	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6590778 rs140324943	126	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1213337755 CA385003771	126	W>R		No	ClinGen gnomAD
rs979909948 CA237290165	127	S>N		No	ClinGen Ensembl
rs1442739455 CA385003883	132	I>T		No	ClinGen TOPMed gnomAD
CA385003901 rs1348614728	133	I>M		No	ClinGen TOPMed gnomAD
rs1227737710 CA385003907	134	E>Q		No	ClinGen TOPMed gnomAD
CA237290179 rs989885279	135	D>G		No	ClinGen Ensembl
rs759391099 CA6590781	137	R>W		No	ClinGen ExAC gnomAD
rs766333046 CA6590782	138	A>T		No	ClinGen ExAC gnomAD
CA237290209 rs955495297	139	Q>R		No	ClinGen TOPMed gnomAD
CA385004146 rs1451370716	140	I>V		No	ClinGen gnomAD
CA6590833 rs745911935	141	F>L		No	ClinGen ExAC TOPMed gnomAD
rs770066827 CA6590834	142	A>T		No	ClinGen ExAC TOPMed gnomAD
rs768434116 CA6590837	146	D>G		No	ClinGen ExAC TOPMed gnomAD
rs749538159 CA237291031	146	D>H		No	ClinGen ExAC TOPMed gnomAD
rs749538159 CA6590836	146	D>N		No	ClinGen ExAC TOPMed gnomAD
rs768434116 CA385004214	146	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1342840924 CA385004227	147	N>T		No	ClinGen gnomAD
CA385004266 rs1293064587	149	R>C		No	ClinGen gnomAD
CA6590838 rs200694483	149	R>H		No	ClinGen ExAC TOPMed gnomAD
rs200694483 CA385004272	149	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771870687 CA6590839	150	I>M		No	ClinGen ExAC
RCV000056437 CA216530 rs59979366	150	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA385004288 rs1252659630	151	V>I		No	ClinGen gnomAD
rs1194791264 CA385004362	154	I>T		No	ClinGen TOPMed gnomAD
CA385004386 rs1253749291	155	D>E		No	ClinGen TOPMed
rs760161076 CA6590841	156	N>S		No	ClinGen ExAC gnomAD
rs776198491 CA6590843	157	A>T		No	ClinGen ExAC gnomAD
CA6590844 rs553275094	158	R>C		No	ClinGen ExAC gnomAD
rs553275094 CA6590845	158	R>G		No	ClinGen ExAC gnomAD
CA6590846 rs369948432	158	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA385004433 rs1277229176	159	L>I		No	ClinGen TOPMed
CA385004462 rs11551626	161	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA237291115 rs11551626	161	A>T		No	ClinGen gnomAD
CA237291151 rs898492782	165	R>T		No	ClinGen TOPMed gnomAD
rs1372689032 CA385004639	168	Y>C		No	ClinGen gnomAD
rs11551625 CA237291494	171	E>V		No	ClinGen Ensembl
CA6590874 rs777576325	173	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6590873 rs758121818	173	A>P		No	ClinGen ExAC gnomAD
CA6590875 rs746898922	175	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA385004733 rs1217770008	175	R>H		No	ClinGen TOPMed gnomAD
CA385004736 rs1217770008	175	R>L		No	ClinGen TOPMed gnomAD
rs781231306 CA6590877	176	Q>R		No	ClinGen ExAC gnomAD
rs1217896141 CA385004763	177	S>F		No	ClinGen TOPMed
CA385004768 rs1171935393	178	V>M		No	ClinGen gnomAD
rs774948895 CA385004823	181	D>E		No	ClinGen ExAC TOPMed gnomAD
rs762675185 CA6590881	182	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1421413412 CA385004869	185	L>F		No	ClinGen gnomAD
rs772530106 CA6590882	186	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773737254 CA6590883	186	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1295633602 CA385004902	188	V>I		No	ClinGen gnomAD
CA385004928 rs1274432464	190	D>Y		No	ClinGen TOPMed
rs11170343 CA6590885	193	N>D		No	ClinGen ExAC gnomAD
rs1434595201 CA385004975	193	N>S		No	ClinGen TOPMed
rs1329069794 CA385004999	195	T>I		No	ClinGen TOPMed
rs903529010 CA237291593	196	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	199	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146788536 CA6590887	200	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1296302277 CA385005089	203	I>F		No	ClinGen TOPMed
rs770760404 CA6590888	203	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1213240462 CA385005108	204	E>G		No	ClinGen gnomAD
rs1467314647 CA385005101	204	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA385005115 rs1171566992	205	A>T		No	ClinGen TOPMed
CA237291635 rs542816796	207	K>R		No	ClinGen 1000Genomes TOPMed
CA385005155 rs1488193972	208	E>V		No	ClinGen TOPMed
rs1213666438 CA385005193	213	M>T		No	ClinGen TOPMed
rs1416055882 CA385005219	216	N>S		No	ClinGen gnomAD
rs375823747 CA6590892	218	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs531597374 CA6590893	219	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6590905 rs760118857	222	K>E		No	ClinGen ExAC gnomAD
CA6590907 rs752798433	223	G>D		No	ClinGen ExAC gnomAD
CA6590906 rs765181291	223	G>S		No	ClinGen ExAC gnomAD
CA385005733 rs1565738795	224	L>P		No	ClinGen Ensembl
rs763059508 COSM360779 CA6590908	226	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA385005775 rs1311227284	226	A>V		No	ClinGen TOPMed
CA385005791 rs1312796330	227	Q>P		No	ClinGen gnomAD
CA237292060 rs11551639	228	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs764298430 CA6590909	228	I>T		No	ClinGen ExAC gnomAD
rs1278862013 CA385005815	229	A>P		No	ClinGen gnomAD
RCV000056439 CA216533 VAR_023055 rs58472472	230	S>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA385005855 rs1592194816	231	S>C		No	ClinGen Ensembl
CA237292067 rs1048221713	231	S>P		No	ClinGen TOPMed gnomAD
TCGA novel	233	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756101711 CA6590913	235	V>M		No	ClinGen ExAC gnomAD
CA237292082 CA385005952 rs779909524	238	D>E		No	ClinGen ExAC gnomAD
rs1174953357 CA385005969	241	K>R		No	ClinGen TOPMed gnomAD
rs1174953357 CA385005968	241	K>T		No	ClinGen TOPMed gnomAD
TCGA novel	242	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303490294 CA385006013	244	D>V		No	ClinGen TOPMed
CA6590915 rs748780372	246	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1318727866 CA385006057	247	K>R		No	ClinGen gnomAD
CA385006079 rs1173135661	248	I>T		No	ClinGen TOPMed
rs191325805 CA6590916	249	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1037179254 CA237292096	249	M>V		No	ClinGen Ensembl
CA6590917 rs778646111	250	A>T		No	ClinGen ExAC gnomAD
TCGA novel	252	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747804954 CA6590918	253	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA237292151 rs11551642	254	A>V		No	ClinGen Ensembl
CA385006236 rs1347876514	258	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs925098058 CA237292198	260	A>P		No	ClinGen TOPMed
rs776044211 CA6590923	261	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6590924 rs11551643	263	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs774491952 CA6590925	264	R>*		No	ClinGen ExAC gnomAD
rs762129501 CA6590926	264	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6590927 rs767170853	265	E>D		No	ClinGen ExAC gnomAD
rs1217251308 CA385006428	268	D>E		No	ClinGen TOPMed
CA6590929 rs755905707	268	D>G		No	ClinGen ExAC gnomAD
CA385006444 rs766324065	269	K>N		No	ClinGen ExAC gnomAD
CA385006476 rs1314118024	272	S>F		No	ClinGen TOPMed
TCGA novel	274	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6590947 rs565940319	275	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216536 rs61696408 RCV000056441	276	E>G		No	ClinGen ClinVar Ensembl dbSNP
CA6590948 rs766276909	281	V>L		No	ClinGen ExAC gnomAD
CA6590950 rs754985586	282	V>F		No	ClinGen ExAC gnomAD
CA216538 rs59112368 RCV000056442	285	Q>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA385006734 rs1294310136	287	A>V		No	ClinGen gnomAD
rs1266499407 CA385006773	292	A>T		No	ClinGen TOPMed
rs757912166 CA6590952	294	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1355185338 CA385006803	294	T>M		No	ClinGen gnomAD
CA385006811 rs267607418	295	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA216540 rs267607418 RCV000056443	295	T>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1180938510 CA385006824	296	L>P		No	ClinGen gnomAD
rs115810585 CA216542 RCV000056444	297	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1185499795 CA385006855	300	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA237292394 rs11551636	300	R>S		No	ClinGen Ensembl
CA6590955 rs749749094	300	R>T		No	ClinGen ExAC gnomAD
rs932515816 CA237292397	301	R>C		No	ClinGen gnomAD
rs1169724462 CA385006868	301	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	301	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6590956 rs769132516	302	T>I		No	ClinGen ExAC gnomAD
rs1457337517 COSM694140 CA385006909	305	S>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs779439842 CA6590957	305	S>P		No	ClinGen ExAC TOPMed gnomAD
CA385006903 rs779439842	305	S>T		No	ClinGen ExAC TOPMed gnomAD
rs748258071 CA6590958	308	I>F		No	ClinGen ExAC TOPMed gnomAD
rs149270992 CA385006942	308	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs199930351 CA385006944	309	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6590960 rs199930351	309	D>N		No	ClinGen ExAC TOPMed gnomAD
rs760836025 CA6590961	312	S>P		No	ClinGen ExAC gnomAD
CA385007054 rs1382465483	317	K>R		No	ClinGen gnomAD
CA385007064 rs1324297627	318	A>V		No	ClinGen gnomAD
rs1227105377 CA385007066	319	S>G		No	ClinGen gnomAD
CA385007070 rs1303493962	319	S>N		No	ClinGen gnomAD
rs961254162 CA237292709	319	S>R		No	ClinGen gnomAD
rs569786087 CA6590970	324	L>M		No	ClinGen ExAC TOPMed gnomAD
CA6590971 rs554733127	325	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1206645651 CA385007113	326	E>K		No	ClinGen gnomAD
rs1206645651 CA385007115	326	E>Q		No	ClinGen gnomAD
CA385007126 rs1592195283	327	V>G		No	ClinGen Ensembl
rs1479626216 CA385007121	327	V>M		No	ClinGen TOPMed
rs927738752 CA237292747	328	E>K		No	ClinGen Ensembl
rs1592195292 CA385007136	329	A>P		No	ClinGen Ensembl
CA385007139 rs1194423970	329	A>V		No	ClinGen gnomAD
CA6590972 rs147365823	330	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs755405944 CA6590973	330	R>H		No	ClinGen ExAC TOPMed gnomAD
rs748604274 CA6590974	332	A>T		No	ClinGen ExAC gnomAD
CA237292794 rs11542066	334	Q>H		No	ClinGen Ensembl
CA385007171 rs1382413504	335	M>L		No	ClinGen gnomAD
CA6590976 rs777734597	335	M>R		No	ClinGen ExAC TOPMed gnomAD
CA385007172 rs777734597	335	M>T		No	ClinGen ExAC TOPMed gnomAD
CA385007177 rs1326009340	336	E>K		No	ClinGen gnomAD
CA237292801 rs11551635	338	L>F		No	ClinGen Ensembl
CA385007221 rs1317426104	342	L>P		No	ClinGen gnomAD
CA385007219 rs1300560482	342	L>V		No	ClinGen gnomAD
rs143380812 CA6590977	346	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254987867 CA385007256	348	E>Q		No	ClinGen gnomAD
CA385007266 rs1321070806	349	L>R		No	ClinGen TOPMed
rs1467228032 CA385007280	351	Q>H		No	ClinGen gnomAD
CA385007287 rs1190661327	352	T>I		No	ClinGen TOPMed gnomAD
CA385007288 rs1421391734	353	R>G		No	ClinGen TOPMed gnomAD
rs769726300 CA6590980	353	R>Q		No	ClinGen ExAC gnomAD
CA385007289 rs1421391734	353	R>W		No	ClinGen TOPMed gnomAD
rs543607490 CA6590981	354	A>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	354	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	354	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456394601 CA385007316	357	Q>L		No	ClinGen TOPMed gnomAD
rs1456394601 CA385007315	357	Q>R		No	ClinGen TOPMed gnomAD
CA6590982 rs762831521	358	R>H		No	ClinGen ExAC TOPMed gnomAD
rs763612705 CA6590983	360	A>V		No	ClinGen ExAC TOPMed gnomAD
CA385007339 rs1459462925	361	Q>*		No	ClinGen gnomAD
CA385007343 rs1292425055	361	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	361	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	362	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392999290 CA385007358	363	Y>F		No	ClinGen gnomAD
rs1234167038 CA385007399	369	I>V		No	ClinGen gnomAD
CA385007429 rs1332941249	371	V>I		No	ClinGen gnomAD
CA385007449 rs1221009613	372	K>N		No	ClinGen gnomAD
CA385007457 rs1251892578	373	L>P		No	ClinGen gnomAD
CA6590987 rs750137340	374	E>G		No	ClinGen ExAC gnomAD
CA385007475 rs1175939678	375	A>T		No	ClinGen gnomAD
rs753197079 CA6590990	378	A>T		No	ClinGen ExAC gnomAD
rs1419656440 CA385007520	378	A>V		No	ClinGen gnomAD
CA385007531 rs1163469093	379	T>I		No	ClinGen TOPMed gnomAD
rs1163469093 CA385007529	379	T>S		No	ClinGen TOPMed gnomAD
rs1044002535 CA385007549	381	R>C		No	ClinGen gnomAD
rs147541172 COSM2156487 CA6590991	381	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA237292965 rs1044002535	381	R>S		No	ClinGen gnomAD
rs11551627 CA6590992	382	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770506633 CA237292984	382	R>H		No	ClinGen TOPMed gnomAD
rs770506633 CA385007559	382	R>L		No	ClinGen TOPMed gnomAD
rs11551627 CA237292975	382	R>S		No	ClinGen ExAC TOPMed gnomAD
rs757469736 CA6590994	387	G>D		No	ClinGen ExAC TOPMed gnomAD
rs999709039 CA385007624	388	E>D		No	ClinGen TOPMed
CA6590996 rs746093574	388	E>K		No	ClinGen ExAC TOPMed gnomAD
CA385007626 rs1202485697	389	D>N		No	ClinGen gnomAD
CA385007650 rs1274618434	390	F>S		No	ClinGen gnomAD
rs769672516 CA6590997	391	N>H		No	ClinGen ExAC gnomAD
CA237293442 rs903196253	393	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	394	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6591013 rs781454348	396	L>S		No	ClinGen ExAC gnomAD
rs1433088298 CA385007810	400	N>D		No	ClinGen gnomAD
rs1197102047 CA385007825	401	S>A		No	ClinGen TOPMed
CA6591014 rs746040565	402	M>V		No	ClinGen ExAC gnomAD
rs1371758556 CA385007868	404	T>A		No	ClinGen gnomAD
rs1478754941 CA385007880	404	T>I		No	ClinGen TOPMed
CA385007898 rs1273623198	405	I>T		No	ClinGen gnomAD
rs1443796983 CA385007886	405	I>V		No	ClinGen gnomAD
CA237293482 rs1000629681	407	K>E		No	ClinGen TOPMed gnomAD
rs1015378270 CA237293493	407	K>N		No	ClinGen Ensembl
rs1484619017 CA385007961	408	T>I		No	ClinGen TOPMed
rs780366176 CA6591017	410	T>I		No	ClinGen ExAC TOPMed gnomAD
rs780366176 CA385007995	410	T>N		No	ClinGen ExAC TOPMed gnomAD
CA237293509 rs1063607	410	T>P		No	ClinGen Ensembl
rs780366176 CA237293524	410	T>S		No	ClinGen ExAC TOPMed gnomAD
rs768557036 CA6591018	411	R>C		No	ClinGen ExAC TOPMed gnomAD
RCV000056432 rs148580152 CA216524	411	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD
CA6591020 rs146080391	412	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6591019 rs774101880	412	R>W		No	ClinGen ExAC gnomAD
CA385008043 rs1477656651	413	I>M		No	ClinGen gnomAD
rs1244966651 CA385008037	413	I>T		No	ClinGen gnomAD
CA6591021 rs771518602	416	G>D		No	ClinGen ExAC TOPMed gnomAD
CA385008113 rs1592195693	418	V>G		No	ClinGen Ensembl
CA6591022 rs772684603	418	V>L		No	ClinGen ExAC gnomAD
rs765942310 CA6591024	419	V>E		No	ClinGen ExAC gnomAD
CA385008120 rs765942310	419	V>G		No	ClinGen ExAC gnomAD
rs200552337 CA6591025	423	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565739734 CA385008161	425	T>A		No	ClinGen Ensembl
CA385008167 rs1331038097	426	K>E		No	ClinGen gnomAD
CA237293595 rs709170	428	L>M		No	ClinGen Ensembl
rs763169289 CA6591026	428	L>P		No	ClinGen ExAC gnomAD
CA385008209 rs1303579109	430	H>N		No	ClinGen TOPMed

1 associated diseases with P05783

[MIM: 215600]: Cirrhosis (CIRRH)

A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. {ECO:0000269|PubMed:12724528, ECO:0000269|PubMed:9011570}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. {ECO:0000269|PubMed:12724528, ECO:0000269|PubMed:9011570}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for P05783

Type	Name	Position	InterPro Accession
conserved_site	Intermediate filament protein, conserved site	377 - 385	IPR018039
domain	Intermediate filament, rod domain	79 - 391	IPR039008

Functions

		Description
EC Number
Subcellular Localization	Nucleus matrix Cytoplasm, perinuclear region Nucleus, nucleolus Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
cell periphery	The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures.
centriolar satellite	A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
keratin filament	A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

4 GO annotations of molecular function

Name	Definition
cadherin binding involved in cell-cell adhesion	Any cadherin binding that occurs as part of the process of cell-cell adhesion.
RNA binding	Binding to an RNA molecule or a portion thereof.
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 molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.

8 GO annotations of biological process

Name	Definition
anatomical structure morphogenesis	The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
extrinsic apoptotic signaling pathway	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with either a ligand binding to a cell surface receptor, or a ligand being withdrawn from a cell surface receptor (e.g. in the case of signaling by dependence receptors), and ends when the execution phase of apoptosis is triggered.
Golgi to plasma membrane CFTR protein transport	The directed movement of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein from the Golgi to the plasma membrane.
hepatocyte apoptotic process	Any apoptotic process in a hepatocyte, the main structural component of the liver.
intermediate filament cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising intermediate filaments and their associated proteins.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
tumor necrosis factor-mediated signaling pathway	The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q04695	KRT17	Keratin, type I cytoskeletal 17	Homo sapiens (Human)	PR
P02533	KRT14	Keratin, type I cytoskeletal 14	Homo sapiens (Human)	PR
P19012	KRT15	Keratin, type I cytoskeletal 15	Homo sapiens (Human)	PR
Q6P864	krt18	Keratin, type I cytoskeletal 18	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q7ZTS4	krt18	Keratin, type I cytoskeletal 18	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MSFTTRSTFS	TNYRSLGSVQ	APSYGARPVS	SAASVYAGAG	GSGSRISVSR	STSFRGGMGS
70	80	90	100	110	120
GGLATGIAGG	LAGMGGIQNE	KETMQSLNDR	LASYLDRVRS	LETENRRLES	KIREHLEKKG
130	140	150	160	170	180
PQVRDWSHYF	KIIEDLRAQI	FANTVDNARI	VLQIDNARLA	ADDFRVKYET	ELAMRQSVEN
190	200	210	220	230	240
DIHGLRKVID	DTNITRLQLE	TEIEALKEEL	LFMKKNHEEE	VKGLQAQIAS	SGLTVEVDAP
250	260	270	280	290	300
KSQDLAKIMA	DIRAQYDELA	RKNREELDKY	WSQQIEESTT	VVTTQSAEVG	AAETTLTELR
310	320	330	340	350	360
RTVQSLEIDL	DSMRNLKASL	ENSLREVEAR	YALQMEQLNG	ILLHLESELA	QTRAEGQRQA
370	380	390	400	410	420
QEYEALLNIK	VKLEAEIATY	RRLLEDGEDF	NLGDALDSSN	SMQTIQKTTT	RRIVDGKVVS

ETNDTKVLRH