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Keratin, type II cytoskeletal 6B (Cytokeratin-6B) (CK-6B) (Keratin-6B) (K6B) (Type-II keratin Kb10)

 K2C6B_HUMAN             Reviewed;         564 AA.
P04259; P48669;
20-MAR-1987, integrated into UniProtKB/Swiss-Prot.
26-MAY-2009, sequence version 5.
23-MAY-2018, entry version 177.
RecName: Full=Keratin, type II cytoskeletal 6B;
AltName: Full=Cytokeratin-6B;
Short=CK-6B;
AltName: Full=Keratin-6B;
Short=K6B;
AltName: Full=Type-II keratin Kb10;
Name=KRT6B; Synonyms=K6B, KRTL1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-21; SER-227 AND
VAL-365.
TISSUE=Skin;
PubMed=7543104; DOI=10.1074/jbc.270.31.18581;
Takahashi K., Paladini R.D., Coulombe P.A.;
"Cloning and characterization of multiple human genes and cDNAs
encoding highly related type II keratin 6 isoforms.";
J. Biol. Chem. 270:18581-18592(1995).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-21; SER-227 AND
VAL-365.
PubMed=2410904; DOI=10.1073/pnas.82.14.4683;
Tyner A.L., Eichman M.J., Fuchs E.;
"The sequence of a type II keratin gene expressed in human skin:
conservation of structure among all intermediate filament genes.";
Proc. Natl. Acad. Sci. U.S.A. 82:4683-4687(1985).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16541075; DOI=10.1038/nature04569;
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M.,
Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B.,
Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D.,
Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z.,
Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H.,
Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H.,
Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V.,
Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J.,
Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A.,
Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M.,
Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E.,
Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M.,
Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R.,
Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J.,
Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C.,
Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M.,
Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M.,
Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P.,
Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L.,
Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E.,
Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C.,
Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F.,
Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M.,
Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S.,
Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D.,
Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I.,
Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T.,
Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S.,
Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D.,
Kucherlapati R., Weinstock G., Gibbs R.A.;
"The finished DNA sequence of human chromosome 12.";
Nature 440:346-351(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
PROTEIN SEQUENCE OF 2-9; 16-24; 31-40; 43-86; 169-189; 195-204;
208-369; 376-386; 425-436; 456-475 AND 534-550, CLEAVAGE OF INITIATOR
METHIONINE, ACETYLATION AT ALA-2, AND IDENTIFICATION BY MASS
SPECTROMETRY.
TISSUE=Lung carcinoma;
Bienvenut W.V., Vousden K.H., Lukashchuk N.;
Submitted (MAR-2008) to UniProtKB.
[6]
PROTEIN SEQUENCE OF 195-203 AND 350-356.
TISSUE=Keratinocyte;
PubMed=1286667; DOI=10.1002/elps.11501301199;
Rasmussen H.H., van Damme J., Puype M., Gesser B., Celis J.E.,
Vandekerckhove J.;
"Microsequences of 145 proteins recorded in the two-dimensional gel
protein database of normal human epidermal keratinocytes.";
Electrophoresis 13:960-969(1992).
[7]
VARIANT PC4 LYS-472.
PubMed=9618173; DOI=10.1093/hmg/7.7.1143;
Smith F.J.D., Jonkman M.F., van Goor H., Coleman C.M., Covello S.P.,
Uitto J., McLean W.H.I.;
"A mutation in human keratin K6b produces a phenocopy of the K17
disorder pachyonychia congenita type 2.";
Hum. Mol. Genet. 7:1143-1148(1998).
[8]
VARIANT PC4 LYS-472.
PubMed=16250206; DOI=10.1111/j.1087-0024.2005.10204.x;
Smith F.J., Liao H., Cassidy A.J., Stewart A., Hamill K.J., Wood P.,
Joval I., van Steensel M.A., Bjoerck E., Callif-Daley F., Pals G.,
Collins P., Leachman S.A., Munro C.S., McLean W.H.;
"The genetic basis of pachyonychia congenita.";
J. Investig. Dermatol. Symp. Proc. 10:21-30(2005).
[9]
VARIANT PC4 LYS-472.
PubMed=21326300; DOI=10.1038/jid.2011.20;
Wilson N.J., Leachman S.A., Hansen C.D., McMullan A.C., Milstone L.M.,
Schwartz M.E., McLean W.H., Hull P.R., Smith F.J.;
"A large mutational study in pachyonychia congenita.";
J. Invest. Dermatol. 131:1018-1024(2011).
-!- SUBUNIT: Heterodimer of a type I and a type II keratin. KRT6
isomers associate with KRT16 and/or KRT17.
-!- INTERACTION:
Q08379:GOLGA2; NbExp=3; IntAct=EBI-740907, EBI-618309;
Q9BVG8:KIFC3; NbExp=3; IntAct=EBI-740907, EBI-2125614;
A1A4E9:KRT13; NbExp=3; IntAct=EBI-740907, EBI-10171552;
P19012:KRT15; NbExp=6; IntAct=EBI-740907, EBI-739566;
P08727:KRT19; NbExp=3; IntAct=EBI-740907, EBI-742756;
Q15323:KRT31; NbExp=5; IntAct=EBI-740907, EBI-948001;
O76015:KRT38; NbExp=5; IntAct=EBI-740907, EBI-1047263;
O14777:NDC80; NbExp=3; IntAct=EBI-740907, EBI-715849;
Q8IYF3-3:TEX11; NbExp=4; IntAct=EBI-740907, EBI-11523345;
Q9UBB9:TFIP11; NbExp=5; IntAct=EBI-740907, EBI-1105213;
Q9BYV2:TRIM54; NbExp=5; IntAct=EBI-740907, EBI-2130429;
-!- TISSUE SPECIFICITY: Constitutively expressed in distinct types of
epithelia such as those in oral mucosa, esophagus, papillae of
tongue and hair follicle outer root sheath.
-!- DISEASE: Pachyonychia congenita 4 (PC4) [MIM:615728]: An autosomal
dominant genodermatosis characterized by hypertrophic nail
dystrophy, painful and highly debilitating plantar keratoderma,
oral leukokeratosis, and a variety of epidermal cysts.
{ECO:0000269|PubMed:16250206, ECO:0000269|PubMed:21326300,
ECO:0000269|PubMed:9618173}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- MISCELLANEOUS: There are at least six isoforms of human type II
keratin-6 (K6).
-!- MISCELLANEOUS: There are two types of cytoskeletal and
microfibrillar keratin, I (acidic) and II (neutral to basic) (40-
55 and 56-70 kDa, respectively).
-!- SIMILARITY: Belongs to the intermediate filament family.
{ECO:0000255|PROSITE-ProRule:PRU01188}.
-!- WEB RESOURCE: Name=Human Intermediate Filament Mutation Database;
URL="http://www.interfil.org";
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EMBL; L42592; AAC41768.1; -; Genomic_DNA.
EMBL; L42584; AAC41768.1; JOINED; Genomic_DNA.
EMBL; L42585; AAC41768.1; JOINED; Genomic_DNA.
EMBL; L42586; AAC41768.1; JOINED; Genomic_DNA.
EMBL; L42587; AAC41768.1; JOINED; Genomic_DNA.
EMBL; L42588; AAC41768.1; JOINED; Genomic_DNA.
EMBL; L42589; AAC41768.1; JOINED; Genomic_DNA.
EMBL; L42590; AAC41768.1; JOINED; Genomic_DNA.
EMBL; L42612; AAC41771.1; -; mRNA.
EMBL; L00205; AAA59466.1; -; Genomic_DNA.
EMBL; M11229; AAA59466.1; JOINED; Genomic_DNA.
EMBL; L00198; AAA59466.1; JOINED; Genomic_DNA.
EMBL; L00199; AAA59466.1; JOINED; Genomic_DNA.
EMBL; L00200; AAA59466.1; JOINED; Genomic_DNA.
EMBL; L00201; AAA59466.1; JOINED; Genomic_DNA.
EMBL; L00202; AAA59466.1; JOINED; Genomic_DNA.
EMBL; L00203; AAA59466.1; JOINED; Genomic_DNA.
EMBL; L00204; AAA59466.1; JOINED; Genomic_DNA.
EMBL; AC055736; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC034535; AAH34535.1; -; mRNA.
CCDS; CCDS8828.1; -.
PIR; I61767; KRHUEB.
PIR; I61771; I61771.
RefSeq; NP_005546.2; NM_005555.3.
UniGene; Hs.708950; -.
ProteinModelPortal; P04259; -.
SMR; P04259; -.
BioGrid; 110052; 37.
IntAct; P04259; 32.
MINT; P04259; -.
STRING; 9606.ENSP00000252252; -.
Allergome; 415; Hom s 5.
iPTMnet; P04259; -.
PhosphoSitePlus; P04259; -.
SwissPalm; P04259; -.
BioMuta; KRT6B; -.
DMDM; 238054404; -.
EPD; P04259; -.
PaxDb; P04259; -.
PeptideAtlas; P04259; -.
PRIDE; P04259; -.
TopDownProteomics; P04259; -.
DNASU; 3854; -.
Ensembl; ENST00000252252; ENSP00000252252; ENSG00000185479.
GeneID; 3854; -.
KEGG; hsa:3854; -.
UCSC; uc001sak.3; human.
CTD; 3854; -.
DisGeNET; 3854; -.
EuPathDB; HostDB:ENSG00000185479.5; -.
GeneCards; KRT6B; -.
GeneReviews; KRT6B; -.
HGNC; HGNC:6444; KRT6B.
HPA; CAB000130; -.
HPA; HPA045697; -.
HPA; HPA061168; -.
MalaCards; KRT6B; -.
MIM; 148042; gene.
MIM; 615728; phenotype.
neXtProt; NX_P04259; -.
OpenTargets; ENSG00000185479; -.
Orphanet; 2309; Pachyonychia congenita.
PharmGKB; PA30232; -.
eggNOG; ENOG410IG4R; Eukaryota.
eggNOG; ENOG410YY6B; LUCA.
GeneTree; ENSGT00760000118796; -.
HOGENOM; HOG000230976; -.
HOVERGEN; HBG013015; -.
InParanoid; P04259; -.
KO; K07605; -.
OMA; FASFREC; -.
OrthoDB; EOG091G09KR; -.
PhylomeDB; P04259; -.
TreeFam; TF317854; -.
Reactome; R-HSA-6805567; Keratinization.
Reactome; R-HSA-6809371; Formation of the cornified envelope.
GenomeRNAi; 3854; -.
PRO; PR:P04259; -.
Proteomes; UP000005640; Chromosome 12.
Bgee; ENSG00000185479; -.
CleanEx; HS_KRT6B; -.
Genevisible; P04259; HS.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
GO; GO:0045095; C:keratin filament; IEA:InterPro.
GO; GO:0005200; F:structural constituent of cytoskeleton; TAS:ProtInc.
GO; GO:0070268; P:cornification; TAS:Reactome.
GO; GO:0007398; P:ectoderm development; TAS:ProtInc.
GO; GO:0031424; P:keratinization; TAS:Reactome.
InterPro; IPR001664; IF.
InterPro; IPR018039; IF_conserved.
InterPro; IPR039008; IF_rod_dom.
InterPro; IPR032444; Keratin_2_head.
InterPro; IPR003054; Keratin_II.
PANTHER; PTHR23239; PTHR23239; 1.
Pfam; PF00038; Filament; 1.
Pfam; PF16208; Keratin_2_head; 1.
PRINTS; PR01276; TYPE2KERATIN.
SMART; SM01391; Filament; 1.
PROSITE; PS00226; IF_ROD_1; 1.
PROSITE; PS51842; IF_ROD_2; 1.
1: Evidence at protein level;
Acetylation; Coiled coil; Complete proteome;
Direct protein sequencing; Disease mutation; Ectodermal dysplasia;
Intermediate filament; Keratin; Palmoplantar keratoderma;
Phosphoprotein; Polymorphism; Reference proteome.
INIT_MET 1 1 Removed. {ECO:0000269|Ref.5}.
CHAIN 2 564 Keratin, type II cytoskeletal 6B.
/FTId=PRO_0000063732.
DOMAIN 163 476 IF rod. {ECO:0000255|PROSITE-
ProRule:PRU01188}.
REGION 2 162 Head.
REGION 163 198 Coil 1A.
REGION 199 217 Linker 1.
REGION 218 309 Coil 1B.
REGION 310 333 Linker 12.
REGION 334 472 Coil 2.
REGION 473 564 Tail.
SITE 414 414 Stutter.
MOD_RES 2 2 N-acetylalanine. {ECO:0000269|Ref.5}.
MOD_RES 60 60 Phosphoserine.
{ECO:0000250|UniProtKB:P48668}.
VARIANT 21 21 N -> S (in dbSNP:rs428894).
{ECO:0000269|PubMed:2410904,
ECO:0000269|PubMed:7543104}.
/FTId=VAR_021265.
VARIANT 227 227 N -> S (in dbSNP:rs652423).
{ECO:0000269|PubMed:2410904,
ECO:0000269|PubMed:7543104}.
/FTId=VAR_021266.
VARIANT 365 365 I -> V (in dbSNP:rs437014).
{ECO:0000269|PubMed:2410904,
ECO:0000269|PubMed:7543104}.
/FTId=VAR_021267.
VARIANT 472 472 E -> K (in PC4; dbSNP:rs60627726).
{ECO:0000269|PubMed:16250206,
ECO:0000269|PubMed:21326300,
ECO:0000269|PubMed:9618173}.
/FTId=VAR_023062.
CONFLICT 89 90 GS -> AG (in Ref. 2; AAA59466).
{ECO:0000305}.
CONFLICT 116 117 AG -> PA (in Ref. 2; AAA59466).
{ECO:0000305}.
CONFLICT 119 121 AGG -> LC (in Ref. 2; AAA59466).
{ECO:0000305}.
CONFLICT 159 160 VR -> IG (in Ref. 2; AAA59466).
{ECO:0000305}.
CONFLICT 255 255 D -> V (in Ref. 2; AAA59466).
{ECO:0000305}.
SEQUENCE 564 AA; 60067 MW; FFA4C351FBF09F09 CRC64;
MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSISVSR SRGSGGLGGA CGGAGFGSRS
LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF GFGGGAGIGF GLGGGAGLAG
GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL QIDPAIQRVR AEEREQIKTL NNKFASFIDK
VRFLEQQNKV LDTKWTLLQE QGTKTVRQNL EPLFEQYINN LRRQLDNIVG ERGRLDSELR
NMQDLVEDLK NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA
LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA EAESWYQTKY
EELQITAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK QCANLQAAIA DAEQRGEMAL
KDAKNKLEGL EDALQKAKQD LARLLKEYQE LMNVKLALDV EIATYRKLLE GEECRLNGEG
VGQVNISVVQ STVSSGYGGA SGVGSGLGLG GGSSYSYGSG LGVGGGFSSS SGRATGGGLS
SVGGGSSTIK YTTTSSSSRK SYKH


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