InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KRT6A

Summary

InnateDB Protein

IDBP-34637.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KRT6A

Protein Name

keratin 6A

Synonyms

CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3;

Species

Homo sapiens

Ensembl Protein

ENSP00000369317

InnateDB Gene

IDBG-34635 (KRT6A)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Disease Associations

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. {ECO:0000269PubMed:11886499, ECO:0000269PubMed:7545493}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	33 [view]
Protein-Protein	33 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding

Biological Process

GO:0008284	positive regulation of cell proliferation
GO:0030154	cell differentiation

Cellular Component

GO:0005634	nucleus
GO:0005882	intermediate filament
GO:0016020	membrane
GO:0045095	keratin filament
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001664 Intermediate filament protein
IPR003054 Keratin, type II
IPR009053 Prefoldin

PFAM

PF00038

PRINTS

PR01276

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P02538

PhosphoSite

PhosphoSite-P02538

TrEMBL

UniProt Splice Variant

Entrez Gene

3853

UniGene

Hs.700779

RefSeq

NP_005545

HUGO

HGNC:6443

OMIM

148041

CCDS

CCDS41786

HPRD

17246

IMGT

EMBL

AH005420 BC008807 BC014152 BC069269 BC125058 BC139753 BT006899 L42575 L42576 L42577 L42578 L42579 L42580 L42581 L42583 V01516

GenPept

AAB60696 AAC41767 AAH08807 AAH14152 AAH69269 AAI25059 AAI39754 AAP35545 CAA24760