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Aliases for KRT6A Gene

Aliases for KRT6A Gene

  • Keratin 6A, Type II 2 3
  • Keratin 6A, , Type II 2 3
  • Type-II Keratin Kb6 3 4
  • KRT6D 3 4
  • PC3 3 6
  • K6A 3 4
  • Kamp-Keratin Derived Antimicrobial Peptide 3
  • Keratin, Type II Cytoskeletal 6A 3
  • Keratin, Epidermal Type II, K6A 3
  • Allergen Hom S 5 4
  • Cytokeratin 6A 3
  • Cytokeratin 6C 3
  • Cytokeratin 6D 3
  • Cytokeratin-6A 4
  • Cytokeratin-6D 4
  • Keratin 6C 2
  • Keratin 6D 2
  • Keratin 6A 2
  • Keratin-6A 4
  • KDAMP 3
  • KRT6C 3
  • CK-6A 4
  • CK-6D 4
  • CK6A 3
  • CK6C 3
  • CK6D 3
  • K6C 3
  • K6D 3

External Ids for KRT6A Gene

Previous HGNC Symbols for KRT6A Gene

  • KRT6C
  • KRT6D

Previous GeneCards Identifiers for KRT6A Gene

  • GC12M053016
  • GC12M052871
  • GC12M052598
  • GC12M051168
  • GC12M051170
  • GC12M051173
  • GC12M051176
  • GC12M052880
  • GC12M049927

Summaries for KRT6A Gene

Entrez Gene Summary for KRT6A Gene

  • 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]

GeneCards Summary for KRT6A Gene

KRT6A (Keratin 6A, Type II) is a Protein Coding gene. Diseases associated with KRT6A include pachyonychia congenita 3 and krt6a-related pachyonychia congenita. Among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is KRT82.

UniProtKB/Swiss-Prot for KRT6A Gene

  • Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair.

Gene Wiki entry for KRT6A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT6A Gene

Genomics for KRT6A Gene

Regulatory Elements for KRT6A Gene

Genomic Location for KRT6A Gene

Start:
52,487,174 bp from pter
End:
52,493,397 bp from pter
Size:
6,224 bases
Orientation:
Minus strand

Genomic View for KRT6A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRT6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT6A Gene

Proteins for KRT6A Gene

  • Protein details for KRT6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02538-K2C6A_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 6A
    Protein Accession:
    P02538
    Secondary Accessions:
    • A4QPC1
    • P48667
    • Q08AR4
    • Q6NT67
    • Q96CL4

    Protein attributes for KRT6A Gene

    Size:
    564 amino acids
    Molecular mass:
    60045 Da
    Quaternary structure:
    • Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17 (By similarity). Interacts with TCHP (PubMed:15731013).
    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)

neXtProt entry for KRT6A Gene

Proteomics data for KRT6A Gene at MOPED

Post-translational modifications for KRT6A Gene

  • Ubiquitination at Lys173, Lys180, and Lys252
  • Modification sites at PhosphoSitePlus

Other Protein References for KRT6A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT6A Gene

Domains for KRT6A Gene

Gene Families for KRT6A Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

Protein Domains for KRT6A Gene

Suggested Antigen Peptide Sequences for KRT6A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02538

UniProtKB/Swiss-Prot:

K2C6A_HUMAN :
  • P02538
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT6A: view

Function for KRT6A Gene

Molecular function for KRT6A Gene

GENATLAS Biochemistry: keratin 6A,type II,upper outer hair root sheat,nail bed,palm and sole skin,suprabasal orogenital mucosal keratinocytes,dimerizing with KRT16
UniProtKB/Swiss-Prot Function: Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair.

Gene Ontology (GO) - Molecular Function for KRT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
GO:0005200 structural constituent of cytoskeleton NAS 7543104
GO:0005515 protein binding IPI 15731013
genes like me logo Genes that share ontologies with KRT6A: view
genes like me logo Genes that share phenotypes with KRT6A: view

Animal Models for KRT6A Gene

MGI Knock Outs for KRT6A:

miRNA for KRT6A Gene

miRTarBase miRNAs that target KRT6A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for KRT6A Gene

Localization for KRT6A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT6A Gene COMPARTMENTS Subcellular localization image for KRT6A gene
Compartment Confidence
cytoskeleton 4
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for KRT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005882 intermediate filament --
GO:0016020 membrane IDA 19946888
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with KRT6A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT6A Gene

Pathways for KRT6A Gene

genes like me logo Genes that share pathways with KRT6A: view

Pathways by source for KRT6A Gene

1 Cell Signaling Technology pathway for KRT6A Gene
1 GeneGo (Thomson Reuters) pathway for KRT6A Gene

Gene Ontology (GO) - Biological Process for KRT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium ISS --
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0008284 positive regulation of cell proliferation NAS 7543104
GO:0030154 cell differentiation NAS 7543104
GO:0042060 wound healing ISS --
genes like me logo Genes that share ontologies with KRT6A: view

Compounds for KRT6A Gene

(1) Novoseek inferred chemical compound relationships for KRT6A Gene

Compound -log(P) Hits PubMed IDs
proline 40.3 1
genes like me logo Genes that share compounds with KRT6A: view

Transcripts for KRT6A Gene

Unigene Clusters for KRT6A Gene

Keratin 6A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRT6A Gene

No ASD Table

Relevant External Links for KRT6A Gene

GeneLoc Exon Structure for
KRT6A
ECgene alternative splicing isoforms for
KRT6A

Expression for KRT6A Gene

mRNA expression in normal human tissues for KRT6A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT6A Gene

This gene is overexpressed in Esophagus - Mucosa (24.1), Vagina (14.0), and Cervix - Ectocervix (8.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KRT6A Gene

SOURCE GeneReport for Unigene cluster for KRT6A Gene Hs.700779

mRNA Expression by UniProt/SwissProt for KRT6A Gene

P02538-K2C6A_HUMAN
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
genes like me logo Genes that share expressions with KRT6A: view

Orthologs for KRT6A Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT6A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT6A 35
  • 99.35 (n)
  • 99.82 (a)
KRT6A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 87 (a)
ManyToMany
-- 36
  • 87 (a)
ManyToMany
KRT6B 36
  • 87 (a)
ManyToMany
KRT6C 35
  • 85.77 (n)
  • 85.77 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 89 (a)
OneToMany
KRT6B 35
  • 86.29 (n)
  • 88.19 (a)
mouse
(Mus musculus)
Mammalia Gm5414 36
  • 70 (a)
ManyToMany
Krt6a 16
Krt6a 36
  • 88 (a)
ManyToMany
Krt6b 36
  • 86 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 74 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KRT3 35
  • 71.91 (n)
  • 71.64 (a)
KRT6A 36
  • 73 (a)
ManyToMany
KRT75 36
  • 67 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 68 (a)
OneToMany
Species with no ortholog for KRT6A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT6A Gene

ENSEMBL:
Gene Tree for KRT6A (if available)
TreeFam:
Gene Tree for KRT6A (if available)

Paralogs for KRT6A Gene

genes like me logo Genes that share paralogs with KRT6A: view

Variants for KRT6A Gene

Sequence variations from dbSNP and Humsavar for KRT6A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs167227 -- 52,489,393(+) CCTGC(C/T)TCAGT intron-variant
rs177079 -- 52,492,330(+) TACCA(A/G)CCCGT intron-variant
rs188463 -- 52,489,006(+) CTACT(G/T)TTCTT intron-variant
rs188464 -- 52,489,693(+) AAATA(C/T)TGGAC intron-variant
rs298117 -- 52,489,726(+) TTGCA(A/G)CTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KRT6A Gene

Variant ID Type Subtype PubMed ID
nsv832410 CNV Gain 17160897
nsv832411 CNV Loss 17160897
nsv832412 CNV Loss 17160897
esv2745892 CNV Deletion 23290073
esv2660079 CNV Deletion 23128226
dgv95n21 CNV Loss 19592680
nsv832413 CNV Loss 17160897

Relevant External Links for KRT6A Gene

HapMap Linkage Disequilibrium report
KRT6A
Human Gene Mutation Database (HGMD)
KRT6A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT6A Gene

Disorders for KRT6A Gene

(1) OMIM Diseases for KRT6A Gene (148041)

UniProtKB/Swiss-Prot

K2C6A_HUMAN
  • Pachyonychia congenita 3 (PC3) [MIM:615726]: An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. {ECO:0000269 PubMed:10232400, ECO:0000269 PubMed:11886499, ECO:0000269 PubMed:15387942, ECO:0000269 PubMed:15840119, ECO:0000269 PubMed:16250206, ECO:0000269 PubMed:17309457, ECO:0000269 PubMed:17719747, ECO:0000269 PubMed:18489596, ECO:0000269 PubMed:19416275, ECO:0000269 PubMed:21326300, ECO:0000269 PubMed:22668561, ECO:0000269 PubMed:7545493}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for KRT6A Gene

Disease -log(P) Hits PubMed IDs
pachyonychia congenita, type 1 97.3 4
nail dystrophy 86.4 1
epidermoid cyst 48.8 1
genetic disorder 47.4 1
skin diseases 44.1 2

Relevant External Links for KRT6A

GeneTests
KRT6A
GeneReviews
KRT6A
Genetic Association Database (GAD)
KRT6A
genes like me logo Genes that share disorders with KRT6A: view

Publications for KRT6A Gene

  1. Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. (PMID: 1713141) Rosenberg M. … Shows T.B. (Cytogenet. Cell Genet. 1991) 2 3 23
  2. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. (PMID: 7545493) Bowden P.E. … Turner R.J. (Nat. Genet. 1995) 3 4 23
  3. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PMID: 11886499) Terrinoni A. … McLean W.H.I. (J. Invest. Dermatol. 2001) 3 4 23
  4. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID: 17719747) Liao H. … Smith F.J. (J. Dermatol. Sci. 2007) 3 4 23
  5. Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1. (PMID: 19416275) Lv Y.M. … Zhang X.J. (Br. J. Dermatol. 2009) 3 4 23

Products for KRT6A Gene

Sources for KRT6A Gene

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