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P02538

- K2C6A_HUMAN

UniProt

P02538 - K2C6A_HUMAN

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Protein
Keratin, type II cytoskeletal 6A
Gene
KRT6A, K6A, KRT6D
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. protein binding Source: IntAct
  2. structural constituent of cytoskeleton Source: UniProtKB

GO - Biological processi

  1. cell differentiation Source: UniProtKB
  2. positive regulation of cell proliferation Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cytoskeletal 6A
Alternative name(s):
Cytokeratin-6A
Short name:
CK-6A
Cytokeratin-6D
Short name:
CK-6D
Keratin-6A
Short name:
K6A
Type-II keratin Kb6
Allergen: Hom s 5
Gene namesi
Name:KRT6A
Synonyms:K6A, KRT6D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:6443. KRT6A.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Pachyonychia congenita 1 (PC1) [MIM:167200]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti171 – 1711Missing in PC1. 1 Publication
VAR_003878
Natural varianti174 – 1741F → V in PC1. 1 Publication
Corresponds to variant rs28933087 [ dbSNP | Ensembl ].
VAR_017075
Natural varianti469 – 4691L → R in PC1. 1 Publication
Corresponds to variant rs57052654 [ dbSNP | Ensembl ].
VAR_017076
Natural varianti472 – 4721E → K in PC1. 1 Publication
Corresponds to variant rs60554162 [ dbSNP | Ensembl ].
VAR_017077

Allergenic propertiesi

Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations.

Keywords - Diseasei

Allergen, Disease mutation, Ectodermal dysplasia, Palmoplantar keratoderma

Organism-specific databases

MIMi167200. phenotype.
Orphaneti2309. Pachyonychia congenita.
PharmGKBiPA30231.

Protein family/group databases

Allergomei3326. Hom s 5.0101.
415. Hom s 5.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 564563Keratin, type II cytoskeletal 6A
PRO_0000063731Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP02538.
PaxDbiP02538.
PeptideAtlasiP02538.
PRIDEiP02538.

PTM databases

PhosphoSiteiP02538.

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

BgeeiP02538.
CleanExiHS_KRT6A.
GenevestigatoriP02538.

Organism-specific databases

HPAiHPA045697.

Interactioni

Subunit structurei

Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17. Interacts with TCHP.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC85BQ158342EBI-702198,EBI-739674

Protein-protein interaction databases

BioGridi110051. 28 interactions.
DIPiDIP-533N.
IntActiP02538. 12 interactions.
STRINGi9606.ENSP00000369317.

Structurei

3D structure databases

ProteinModelPortaliP02538.
SMRiP02538. Positions 160-313, 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.
InParanoidiP02538.
KOiK07605.
OMAiMQDQVED.
OrthoDBiEOG7FV3Q8.
PhylomeDBiP02538.
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.

P02538-1 [UniParc]FASTAAdd to Basket

« Hide

MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSVSVSR SRGSGGLGGA    50
CGGAGFGSRS LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF 100
GFGGGAGIGF GLGGGAGLAG GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL 150
QIDPTIQRVR AEEREQIKTL NNKFASFIDK VRFLEQQNKV LETKWTLLQE 200
QGTKTVRQNL EPLFEQYINN LRRQLDSIVG ERGRLDSELR GMQDLVEDFK 250
NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA 300
LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA 350
EAESWYQTKY EELQVTAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK 400
QCANLQAAIA DAEQRGEMAL KDAKNKLEGL EDALQKAKQD LARLLKEYQE 450
LMNVKLALDV EIATYRKLLE GEECRLNGEG VGQVNISVVQ STVSSGYGGA 500
SGVGSGLGLG GGSSYSYGSG LGVGGGFSSS SGRAIGGGLS SVGGGSSTIK 550
YTTTSSSSRK SYKH 564
Length:564
Mass (Da):60,045
Last modified:January 23, 2007 - v3
Checksum:i26708916C7DC923A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211N → S.1 Publication
Corresponds to variant rs17845411 [ dbSNP | Ensembl ].
VAR_021264
Natural varianti111 – 1111G → D.
Corresponds to variant rs681063 [ dbSNP | Ensembl ].
VAR_035030
Natural varianti171 – 1711Missing in PC1. 1 Publication
VAR_003878
Natural varianti174 – 1741F → V in PC1. 1 Publication
Corresponds to variant rs28933087 [ dbSNP | Ensembl ].
VAR_017075
Natural varianti469 – 4691L → R in PC1. 1 Publication
Corresponds to variant rs57052654 [ dbSNP | Ensembl ].
VAR_017076
Natural varianti472 – 4721E → K in PC1. 1 Publication
Corresponds to variant rs60554162 [ dbSNP | Ensembl ].
VAR_017077

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti192 – 1921E → D in AAB60696. 1 Publication
Sequence conflicti241 – 2411G → N in AAB60696. 1 Publication
Sequence conflicti249 – 2491F → L in AAB60696. 1 Publication
Sequence conflicti395 – 3951I → S in CAA24760. 1 Publication
Sequence conflicti404 – 4041N → S in AAB60696. 1 Publication
Sequence conflicti443 – 4431R → W in AAH69269. 1 Publication
Sequence conflicti486 – 4861I → V in AAB60696. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L42583
, L42575, L42576, L42577, L42578, L42579, L42580, L42581 Genomic DNA. Translation: AAC41767.1.
AH005420 Genomic DNA. Translation: AAB60696.1.
BT006899 mRNA. Translation: AAP35545.1.
BC008807 mRNA. Translation: AAH08807.1.
BC014152 mRNA. Translation: AAH14152.1.
BC069269 mRNA. Translation: AAH69269.1.
BC125058 mRNA. Translation: AAI25059.1.
BC139753 mRNA. Translation: AAI39754.1.
V01516 Genomic DNA. Translation: CAA24760.1.
CCDSiCCDS41786.1.
PIRiA57398. KRHUEA.
I61769.
RefSeqiNP_005545.1. NM_005554.3.
UniGeneiHs.700779.

Genome annotation databases

EnsembliENST00000330722; ENSP00000369317; ENSG00000205420.
GeneIDi3853.
KEGGihsa:3853.
UCSCiuc001sam.3. human.

Polymorphism databases

DMDMi1346344.

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
L42583
, L42575 , L42576 , L42577 , L42578 , L42579 , L42580 , L42581 Genomic DNA. Translation: AAC41767.1 .
AH005420 Genomic DNA. Translation: AAB60696.1 .
BT006899 mRNA. Translation: AAP35545.1 .
BC008807 mRNA. Translation: AAH08807.1 .
BC014152 mRNA. Translation: AAH14152.1 .
BC069269 mRNA. Translation: AAH69269.1 .
BC125058 mRNA. Translation: AAI25059.1 .
BC139753 mRNA. Translation: AAI39754.1 .
V01516 Genomic DNA. Translation: CAA24760.1 .
CCDSi CCDS41786.1.
PIRi A57398. KRHUEA.
I61769.
RefSeqi NP_005545.1. NM_005554.3.
UniGenei Hs.700779.

3D structure databases

ProteinModelPortali P02538.
SMRi P02538. Positions 160-313, 329-471.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110051. 28 interactions.
DIPi DIP-533N.
IntActi P02538. 12 interactions.
STRINGi 9606.ENSP00000369317.

Protein family/group databases

Allergomei 3326. Hom s 5.0101.
415. Hom s 5.

PTM databases

PhosphoSitei P02538.

Polymorphism databases

DMDMi 1346344.

Proteomic databases

MaxQBi P02538.
PaxDbi P02538.
PeptideAtlasi P02538.
PRIDEi P02538.

Protocols and materials databases

DNASUi 3853.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000330722 ; ENSP00000369317 ; ENSG00000205420 .
GeneIDi 3853.
KEGGi hsa:3853.
UCSCi uc001sam.3. human.

Organism-specific databases

CTDi 3853.
GeneCardsi GC12M052880.
GeneReviewsi KRT6A.
HGNCi HGNC:6443. KRT6A.
HPAi HPA045697.
MIMi 148041. gene.
167200. phenotype.
neXtProti NX_P02538.
Orphaneti 2309. Pachyonychia congenita.
PharmGKBi PA30231.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315845.
HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi P02538.
KOi K07605.
OMAi MQDQVED.
OrthoDBi EOG7FV3Q8.
PhylomeDBi P02538.
TreeFami TF317854.

Miscellaneous databases

ChiTaRSi KRT6A. human.
GeneWikii Keratin_6A.
GenomeRNAii 3853.
NextBioi 15161.
PROi P02538.
SOURCEi Search...

Gene expression databases

Bgeei P02538.
CleanExi HS_KRT6A.
Genevestigatori P02538.

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].
    Tissue: Skin.
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "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], VARIANT SER-21.
    Tissue: Brain, Ovary and Pancreas.
  4. Cited for: PROTEIN SEQUENCE OF 2-9; 31-40; 43-86; 169-204; 208-232; 241-347; 350-369; 379-386; 425-436; 447-475 AND 534-550, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Lung carcinoma.
  5. "The cDNA sequence of a type II cytoskeletal keratin reveals constant and variable structural domains among keratins."
    Hanukoglu I., Fuchs E.
    Cell 33:915-924(1983) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 208-564.
  6. "Identification of trichoplein, a novel keratin filament-binding protein."
    Nishizawa M., Izawa I., Inoko A., Hayashi Y., Nagata K., Yokoyama T., Usukura J., Inagaki M.
    J. Cell Sci. 118:1081-1090(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TCHP.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Mutation of a type II keratin gene (K6a) in pachyonychia congenita."
    Bowden P.E., Haley J.L., Kansky A., Rothnagel J.A., Jones D.O., Turner R.J.
    Nat. Genet. 10:363-365(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PC1 ASN-171 DEL.
  9. "Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita."
    Terrinoni A., Smith F.J.D., Didona B., Canzona F., Paradisi M., Huber M., Hohl D., David A., Verloes A., Leigh I.M., Munro C.S., Melino G., McLean W.H.I.
    J. Invest. Dermatol. 117:1391-1396(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PC1 VAL-174; ARG-469 AND LYS-472.

Entry informationi

Entry nameiK2C6A_HUMAN
AccessioniPrimary (citable) accession number: P02538
Secondary accession number(s): A4QPC1
, P48667, Q08AR4, Q6NT67, Q96CL4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 151 of the entry and version 3 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), K6A being the most abundant representing about 77% of all forms found in epithelia.
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. Allergens
    Nomenclature of allergens and list of entries
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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