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P02538 (K2C6A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 147. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KRT6A
Synonyms:K6A, KRT6D
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length564 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17. Interacts with TCHP. Ref.6

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.

Involvement in disease

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. Ref.8 Ref.9

Allergenic properties

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.

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).

Sequence similarities

Belongs to the intermediate filament family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CCDC85BQ158342EBI-702198,EBI-739674

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.4
Chain2 – 564563Keratin, type II cytoskeletal 6A
PRO_0000063731

Regions

Region2 – 162161Head
Region163 – 472310Rod
Region163 – 19836Coil 1A
Region199 – 21719Linker 1
Region218 – 30992Coil 1B
Region310 – 33324Linker 12
Region334 – 472139Coil 2
Region473 – 56492Tail

Sites

Site4141Stutter

Amino acid modifications

Modified residue21N-acetylalanine Ref.4

Natural variations

Natural variant211N → S. Ref.3
Corresponds to variant rs17845411 [ dbSNP | Ensembl ].
VAR_021264
Natural variant1111G → D.
Corresponds to variant rs681063 [ dbSNP | Ensembl ].
VAR_035030
Natural variant1711Missing in PC1. Ref.8
VAR_003878
Natural variant1741F → V in PC1. Ref.9
Corresponds to variant rs28933087 [ dbSNP | Ensembl ].
VAR_017075
Natural variant4691L → R in PC1. Ref.9
Corresponds to variant rs57052654 [ dbSNP | Ensembl ].
VAR_017076
Natural variant4721E → K in PC1. Ref.9
Corresponds to variant rs60554162 [ dbSNP | Ensembl ].
VAR_017077

Experimental info

Sequence conflict1921E → D in AAB60696. Ref.1
Sequence conflict2411G → N in AAB60696. Ref.1
Sequence conflict2491F → L in AAB60696. Ref.1
Sequence conflict3951I → S in CAA24760. Ref.5
Sequence conflict4041N → S in AAB60696. Ref.1
Sequence conflict4431R → W in AAH69269. Ref.3
Sequence conflict4861I → V in AAB60696. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P02538 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: 26708916C7DC923A

FASTA56460,045
        10         20         30         40         50         60 
MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSVSVSR SRGSGGLGGA CGGAGFGSRS 

        70         80         90        100        110        120 
LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF GFGGGAGIGF GLGGGAGLAG 

       130        140        150        160        170        180 
GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL QIDPTIQRVR AEEREQIKTL NNKFASFIDK 

       190        200        210        220        230        240 
VRFLEQQNKV LETKWTLLQE QGTKTVRQNL EPLFEQYINN LRRQLDSIVG ERGRLDSELR 

       250        260        270        280        290        300 
GMQDLVEDFK NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA 

       310        320        330        340        350        360 
LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA EAESWYQTKY 

       370        380        390        400        410        420 
EELQVTAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK QCANLQAAIA DAEQRGEMAL 

       430        440        450        460        470        480 
KDAKNKLEGL EDALQKAKQD LARLLKEYQE LMNVKLALDV EIATYRKLLE GEECRLNGEG 

       490        500        510        520        530        540 
VGQVNISVVQ STVSSGYGGA SGVGSGLGLG GGSSYSYGSG LGVGGGFSSS SGRAIGGGLS 

       550        560 
SVGGGSSTIK YTTTSSSSRK SYKH 

« Hide

References

« Hide 'large scale' references
[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]Bienvenut W.V., Vousden K.H., Lukashchuk N., Lilla S., Lange E., Sumpton D.P.
Submitted (MAR-2008) to UniProtKB
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L42583 expand/collapse EMBL AC list , 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.
PIRKRHUEA. A57398.
I61769.
RefSeqNP_005545.1. NM_005554.3.
UniGeneHs.700779.

3D structure databases

ProteinModelPortalP02538.
SMRP02538. Positions 160-313, 329-471.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110051. 26 interactions.
DIPDIP-533N.
IntActP02538. 12 interactions.
STRING9606.ENSP00000369317.

Protein family/group databases

Allergome3326. Hom s 5.0101.
415. Hom s 5.

PTM databases

PhosphoSiteP02538.

Polymorphism databases

DMDM1346344.

Proteomic databases

PaxDbP02538.
PeptideAtlasP02538.
PRIDEP02538.

Protocols and materials databases

DNASU3853.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000330722; ENSP00000369317; ENSG00000205420.
GeneID3853.
KEGGhsa:3853.
UCSCuc001sam.3. human.

Organism-specific databases

CTD3853.
GeneCardsGC12M052880.
HGNCHGNC:6443. KRT6A.
HPAHPA045697.
MIM148041. gene.
167200. phenotype.
neXtProtNX_P02538.
Orphanet2309. Pachyonychia congenita.
PharmGKBPA30231.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315845.
HOGENOMHOG000230976.
HOVERGENHBG013015.
InParanoidP02538.
KOK07605.
OMAMQDQVED.
OrthoDBEOG7FV3Q8.
PhylomeDBP02538.
TreeFamTF317854.

Gene expression databases

BgeeP02538.
CleanExHS_KRT6A.
GenevestigatorP02538.

Family and domain databases

InterProIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01276. TYPE2KERATIN.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSKRT6A. human.
GeneWikiKeratin_6A.
GenomeRNAi3853.
NextBio15161.
PROP02538.
SOURCESearch...

Entry information

Entry nameK2C6A_HUMAN
AccessionPrimary (citable) accession number: P02538
Secondary accession number(s): A4QPC1 expand/collapse secondary AC list , P48667, Q08AR4, Q6NT67, Q96CL4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 147 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM

Allergens

Nomenclature of allergens and list of entries