SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P04259

- K2C6B_HUMAN

UniProt

P04259 - K2C6B_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Keratin, type II cytoskeletal 6B
Gene
KRT6B, K6B, KRTL1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei414 – 4141Stutter

GO - Molecular functioni

  1. structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

  1. ectoderm development Source: ProtInc
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cytoskeletal 6B
Alternative name(s):
Cytokeratin-6B
Short name:
CK-6B
Keratin-6B
Short name:
K6B
Type-II keratin Kb10
Gene namesi
Name:KRT6B
Synonyms:K6B, KRTL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:6444. KRT6B.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Pachyonychia congenita 2 (PC2) [MIM:167210]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti472 – 4721E → K in PC2. 1 Publication
Corresponds to variant rs60627726 [ dbSNP | Ensembl ].
VAR_023062

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia, Palmoplantar keratoderma

Organism-specific databases

MIMi167210. phenotype.
Orphaneti2309. Pachyonychia congenita.
PharmGKBiPA30232.

Protein family/group databases

Allergomei415. Hom s 5.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 564563Keratin, type II cytoskeletal 6B
PRO_0000063732Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Modified residuei60 – 601Phosphoserine By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiP04259.
PRIDEiP04259.

PTM databases

PhosphoSiteiP04259.

Expressioni

Tissue specificityi

Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.

Gene expression databases

BgeeiP04259.
CleanExiHS_KRT6B.
GenevestigatoriP04259.

Organism-specific databases

HPAiCAB000130.
HPA045697.

Interactioni

Subunit structurei

Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17.

Protein-protein interaction databases

BioGridi110052. 21 interactions.
IntActiP04259. 7 interactions.
MINTiMINT-1456452.
STRINGi9606.ENSP00000252252.

Structurei

3D structure databases

ProteinModelPortaliP04259.
SMRiP04259. Positions 160-302, 329-471.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2 – 162161Head
Add
BLAST
Regioni163 – 472310Rod
Add
BLAST
Regioni163 – 19836Coil 1A
Add
BLAST
Regioni199 – 21719Linker 1
Add
BLAST
Regioni218 – 30992Coil 1B
Add
BLAST
Regioni310 – 33324Linker 12
Add
BLAST
Regioni334 – 472139Coil 2
Add
BLAST
Regioni473 – 56492Tail
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG315845.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP04259.
KOiK07605.
OMAiXSSAGSS.
OrthoDBiEOG7FV3Q8.
PhylomeDBiP04259.
TreeFamiTF317854.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P04259-1 [UniParc]FASTAAdd to Basket

« Hide

MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSISVSR SRGSGGLGGA    50
CGGAGFGSRS LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF 100
GFGGGAGIGF GLGGGAGLAG GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL 150
QIDPAIQRVR AEEREQIKTL NNKFASFIDK VRFLEQQNKV LDTKWTLLQE 200
QGTKTVRQNL EPLFEQYINN LRRQLDNIVG ERGRLDSELR NMQDLVEDLK 250
NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA 300
LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA 350
EAESWYQTKY EELQITAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK 400
QCANLQAAIA DAEQRGEMAL KDAKNKLEGL EDALQKAKQD LARLLKEYQE 450
LMNVKLALDV EIATYRKLLE GEECRLNGEG VGQVNISVVQ STVSSGYGGA 500
SGVGSGLGLG GGSSYSYGSG LGVGGGFSSS SGRATGGGLS SVGGGSSTIK 550
YTTTSSSSRK SYKH 564
Length:564
Mass (Da):60,067
Last modified:May 26, 2009 - v5
Checksum:iFFA4C351FBF09F09
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211N → S.2 Publications
Corresponds to variant rs428894 [ dbSNP | Ensembl ].
VAR_021265
Natural varianti227 – 2271N → S.2 Publications
Corresponds to variant rs652423 [ dbSNP | Ensembl ].
VAR_021266
Natural varianti365 – 3651I → V.2 Publications
Corresponds to variant rs437014 [ dbSNP | Ensembl ].
VAR_021267
Natural varianti472 – 4721E → K in PC2. 1 Publication
Corresponds to variant rs60627726 [ dbSNP | Ensembl ].
VAR_023062

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti89 – 902GS → AG in AAA59466. 1 Publication
Sequence conflicti116 – 1172AG → PA in AAA59466. 1 Publication
Sequence conflicti119 – 1213AGG → LC in AAA59466. 1 Publication
Sequence conflicti159 – 1602VR → IG in AAA59466. 1 Publication
Sequence conflicti255 – 2551D → V in AAA59466. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L42592
, L42584, L42585, L42586, L42587, L42588, L42589, L42590 Genomic DNA. Translation: AAC41768.1.
L42612 mRNA. Translation: AAC41771.1.
L00205
, M11229, L00198, L00199, L00200, L00201, L00202, L00203, L00204 Genomic DNA. Translation: AAA59466.1.
AC055736 Genomic DNA. No translation available.
BC034535 mRNA. Translation: AAH34535.1.
CCDSiCCDS8828.1.
PIRiI61767. KRHUEB.
I61771.
RefSeqiNP_005546.2. NM_005555.3.
UniGeneiHs.708950.

Genome annotation databases

EnsembliENST00000252252; ENSP00000252252; ENSG00000185479.
GeneIDi3854.
KEGGihsa:3854.
UCSCiuc001sak.3. human.

Polymorphism databases

DMDMi238054404.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L42592
, L42584 , L42585 , L42586 , L42587 , L42588 , L42589 , L42590 Genomic DNA. Translation: AAC41768.1 .
L42612 mRNA. Translation: AAC41771.1 .
L00205
, M11229 , L00198 , L00199 , L00200 , L00201 , L00202 , L00203 , L00204 Genomic DNA. Translation: AAA59466.1 .
AC055736 Genomic DNA. No translation available.
BC034535 mRNA. Translation: AAH34535.1 .
CCDSi CCDS8828.1.
PIRi I61767. KRHUEB.
I61771.
RefSeqi NP_005546.2. NM_005555.3.
UniGenei Hs.708950.

3D structure databases

ProteinModelPortali P04259.
SMRi P04259. Positions 160-302, 329-471.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110052. 21 interactions.
IntActi P04259. 7 interactions.
MINTi MINT-1456452.
STRINGi 9606.ENSP00000252252.

Protein family/group databases

Allergomei 415. Hom s 5.

PTM databases

PhosphoSitei P04259.

Polymorphism databases

DMDMi 238054404.

Proteomic databases

PaxDbi P04259.
PRIDEi P04259.

Protocols and materials databases

DNASUi 3854.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252252 ; ENSP00000252252 ; ENSG00000185479 .
GeneIDi 3854.
KEGGi hsa:3854.
UCSCi uc001sak.3. human.

Organism-specific databases

CTDi 3854.
GeneCardsi GC12M052840.
GeneReviewsi KRT6B.
HGNCi HGNC:6444. KRT6B.
HPAi CAB000130.
HPA045697.
MIMi 148042. gene.
167210. phenotype.
neXtProti NX_P04259.
Orphaneti 2309. Pachyonychia congenita.
PharmGKBi PA30232.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315845.
HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi P04259.
KOi K07605.
OMAi XSSAGSS.
OrthoDBi EOG7FV3Q8.
PhylomeDBi P04259.
TreeFami TF317854.

Miscellaneous databases

GenomeRNAii 3854.
NextBioi 15165.
PROi P04259.
SOURCEi Search...

Gene expression databases

Bgeei P04259.
CleanExi HS_KRT6B.
Genevestigatori P04259.

Family and domain databases

InterProi IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
PRINTSi PR01276. TYPE2KERATIN.
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms."
    Takahashi K., Paladini R.D., Coulombe P.A.
    J. Biol. Chem. 270:18581-18592(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-21; SER-227 AND VAL-365.
    Tissue: Skin.
  2. "The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate filament genes."
    Tyner A.L., Eichman M.J., Fuchs E.
    Proc. Natl. Acad. Sci. U.S.A. 82:4683-4687(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-21; SER-227 AND VAL-365.
  3. "The finished DNA sequence of human chromosome 12."
    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.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  5. Bienvenut W.V., Vousden K.H., Lukashchuk N.
    Submitted (MAR-2008) to UniProtKB
    Cited for: 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, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Lung carcinoma.
  6. "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes."
    Rasmussen H.H., van Damme J., Puype M., Gesser B., Celis J.E., Vandekerckhove J.
    Electrophoresis 13:960-969(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 195-203 AND 350-356.
    Tissue: Keratinocyte.
  7. "A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2."
    Smith F.J.D., Jonkman M.F., van Goor H., Coleman C.M., Covello S.P., Uitto J., McLean W.H.I.
    Hum. Mol. Genet. 7:1143-1148(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PC2 LYS-472.

Entry informationi

Entry nameiK2C6B_HUMAN
AccessioniPrimary (citable) accession number: P04259
Secondary accession number(s): P48669
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 1987
Last sequence update: May 26, 2009
Last modified: July 9, 2014
This is version 145 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

There are at least six isoforms of human type II keratin-6 (K6).
There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi