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KRT6A keratin 6A [ Homo sapiens (human) ]

Gene ID: 3853, updated on 15-Apr-2019

Summary

Official Symbol
KRT6Aprovided by HGNC
Official Full Name
keratin 6Aprovided by HGNC
Primary source
HGNC:HGNC:6443
See related
Ensembl:ENSG00000205420 MIM:148041
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
K6A; K6C; K6D; PC3; CK6A; CK6C; CK6D; CK-6C; CK-6E; KRT6C; KRT6D
Summary
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]
Expression
Restricted expression toward esophagus (RPKM 2985.3) See more
Orthologs

Genomic context

See KRT6A in Genome Data Viewer
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (52487174..52493397, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52880958..52887181, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 6B Neighboring gene keratin 6C Neighboring gene keratin 5 Neighboring gene keratin 71

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
keratin filament IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nucleus HDA PubMed 

General protein information

Preferred Names
keratin, type II cytoskeletal 6A
Names
cytokeratin 6A
cytokeratin 6C
cytokeratin 6D
keratin 6A, , type II
keratin 6A, type II
keratin, epidermal type II, K6A
type-II keratin Kb6

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008298.1 RefSeqGene

    Range
    5141..11222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005554.4NP_005545.1  keratin, type II cytoskeletal 6A

    See identical proteins and their annotated locations for NP_005545.1

    Status: REVIEWED

    Source sequence(s)
    BC008807, DA451441
    Consensus CDS
    CCDS41786.1
    UniProtKB/Swiss-Prot
    P02538
    UniProtKB/TrEMBL
    A0A0S2Z428
    Related
    ENSP00000369317.3, ENST00000330722.7
    Conserved Domains (2) summary
    pfam00038
    Location:162475
    Filament; Intermediate filament protein
    pfam16208
    Location:59159
    Keratin_2_head; Keratin type II head

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    52487174..52493397 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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