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Aliases for KRT31 Gene

Aliases for KRT31 Gene

  • Keratin 31 2 3 5
  • Hair Keratin, Type I Ha1 3 4
  • Keratin 31, Type I 2 3
  • KRTHA1 3 4
  • HHa1 3 4
  • K31 3 4
  • Keratin, Type I Cuticular Ha1 3
  • Keratin, Hair, Acidic, 1 2
  • Hard Keratin, Type I, 1 3
  • Keratin, Hair, Acidic,1 3
  • Hard Keratin Type I 1 2
  • Keratin-31 4
  • HA-1 3
  • HKA1 4
  • HA1 3

External Ids for KRT31 Gene

Previous HGNC Symbols for KRT31 Gene

  • KRTHA1

Previous GeneCards Identifiers for KRT31 Gene

  • GC17M036804
  • GC17M039549
  • GC17M035313

Summaries for KRT31 Gene

Entrez Gene Summary for KRT31 Gene

  • The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT31 Gene

KRT31 (Keratin 31) is a Protein Coding gene. Diseases associated with KRT31 include Skin Pilomatrix Carcinoma and Nodular Basal Cell Carcinoma. Among its related pathways are Developmental Biology. GO annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT33B.

Gene Wiki entry for KRT31 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT31 Gene

Genomics for KRT31 Gene

Regulatory Elements for KRT31 Gene

Enhancers for KRT31 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F041338 1 Ensembl ENCODE 10.3 +56.6 56581 6.0 PKNOX1 MTA2 YBX1 EBF1 TBX21 RELA GATA3 NBN PRDM1 KRT38 KRTAP16-1 KRTAP29-1 KRT31 LOC100505782 KRTAP17-1 KRTAP9-6 KRT37 ENSG00000234477 KRT32
GH17F041333 1.1 Ensembl ENCODE 10.3 +62.9 62922 1.8 EBF1 KRT34 KRTAP29-1 KRT31 LOC100505782 KRT37 ENSG00000234477 KRT40 ENSG00000108516 KRT33A
GH17F041336 0.5 ENCODE 10 +61.3 61349 0.2 NRF1 KRTAP29-1 KRTAP16-1 KRTAP17-1 KRTAP9-6 KRT37 KRT31 LOC100505782 ENSG00000234477 KRT32 RNU2-32P
GH17F041534 1.2 FANTOM5 Ensembl ENCODE 9.8 -139.7 -139651 5.4 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 ZNF207 KRT36 KRT35 KRT31 LOC100505782 KRT19 KRTAP2-1 KRTAP2-2 KRTAP9-1 KRTAP9-2 KRTAP9-9
GH17F041518 1.3 FANTOM5 Ensembl ENCODE 9.7 -127.7 -127663 13.6 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ENSG00000259623 KAT2A KRT19 P3H4 DHX58 KRT36 KRT14 ENSG00000267758 STAT5B LOC100505782
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRT31 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT31 Gene

Chromosome:
17
Start:
41,393,724 bp from pter
End:
41,397,592 bp from pter
Size:
3,869 bases
Orientation:
Minus strand

Genomic View for KRT31 Gene

Genes around KRT31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT31 Gene

Proteins for KRT31 Gene

  • Protein details for KRT31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15323-K1H1_HUMAN
    Recommended name:
    Keratin, type I cuticular Ha1
    Protein Accession:
    Q15323
    Secondary Accessions:
    • Q9UE12

    Protein attributes for KRT31 Gene

    Size:
    416 amino acids
    Molecular mass:
    47237 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

neXtProt entry for KRT31 Gene

Post-translational modifications for KRT31 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT31 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT31 Gene

Domains & Families for KRT31 Gene

Gene Families for KRT31 Gene

Suggested Antigen Peptide Sequences for KRT31 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15323

UniProtKB/Swiss-Prot:

K1H1_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT31: view

Function for KRT31 Gene

Gene Ontology (GO) - Molecular Function for KRT31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 9405442
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT31: view
genes like me logo Genes that share phenotypes with KRT31: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT31 Gene

Localization for KRT31 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT31 Gene COMPARTMENTS Subcellular localization image for KRT31 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 3
mitochondrion 2
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRT31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005882 intermediate filament IEA,TAS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with KRT31: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT31 Gene

Pathways & Interactions for KRT31 Gene

SuperPathways for KRT31 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRT31: view

Pathways by source for KRT31 Gene

1 Reactome pathway for KRT31 Gene

Gene Ontology (GO) - Biological Process for KRT31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0008544 epidermis development TAS 7578244
genes like me logo Genes that share ontologies with KRT31: view

No data available for SIGNOR curated interactions for KRT31 Gene

Transcripts for KRT31 Gene

mRNA/cDNA for KRT31 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(76) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT31 Gene

Keratin 31:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT31 Gene

No ASD Table

Relevant External Links for KRT31 Gene

GeneLoc Exon Structure for
KRT31
ECgene alternative splicing isoforms for
KRT31

Expression for KRT31 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT31 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT31 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x37.5) and Skin - Sun Exposed (Lower leg) (x7.9).

Protein differential expression in normal tissues from HIPED for KRT31 Gene

This gene is overexpressed in Hair follicle (67.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT31 Gene



Protein tissue co-expression partners for KRT31 Gene

NURSA nuclear receptor signaling pathways regulating expression of KRT31 Gene:

KRT31

SOURCE GeneReport for Unigene cluster for KRT31 Gene:

Hs.41696

mRNA Expression by UniProt/SwissProt for KRT31 Gene:

Q15323-K1H1_HUMAN
Tissue specificity: Present in scalp but not in hairless skin. Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla.
genes like me logo Genes that share expression patterns with KRT31: view

Primer Products

Orthologs for KRT31 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRT31 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT31 34 35
  • 98.72 (n)
dog
(Canis familiaris)
Mammalia KRT31 34
  • 89.81 (n)
-- 35
  • 89 (a)
ManyToMany
-- 35
  • 89 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Krt33a 35
  • 89 (a)
ManyToMany
Krt33b 16 35
  • 88 (a)
Krt34 35
  • 88 (a)
ManyToMany
Krt31 34 35
  • 86.86 (n)
cow
(Bos Taurus)
Mammalia KRT31 34 35
  • 88.7 (n)
KRT33A 35
  • 87 (a)
ManyToMany
-- 35
  • 86 (a)
ManyToMany
HKA1 35
  • 86 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Krt31 34
  • 87.44 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
ManyToMany
-- 35
  • 75 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 82 (a)
ManyToMany
-- 35
  • 81 (a)
ManyToMany
-- 35
  • 80 (a)
ManyToMany
Species where no ortholog for KRT31 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 KRT31 Gene

ENSEMBL:
Gene Tree for KRT31 (if available)
TreeFam:
Gene Tree for KRT31 (if available)

Paralogs for KRT31 Gene

Variants for KRT31 Gene

Sequence variations from dbSNP and Humsavar for KRT31 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1047448 -- 41,394,000(-) ATGCC(A/G)GAGGA utr-variant-3-prime
rs1047449 -- 41,393,899(-) GCCCG(A/C)GTAAG utr-variant-3-prime
rs1047450 -- 41,393,862(-) GTAGC(A/C)TCCCC utr-variant-3-prime
rs10711172 -- 41,396,106(+) TTGCC(-/A)AAAAA intron-variant
rs10852945 -- 41,398,994(+) AGCTC(C/T)GCCTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRT31 Gene

Variant ID Type Subtype PubMed ID
esv2758690 CNV gain+loss 17122850
esv3640586 CNV loss 21293372
nsv1146669 OTHER inversion 26484159
nsv2052 CNV insertion 18451855
nsv483014 CNV loss 15286789
nsv962322 CNV duplication 23825009
nsv962323 CNV duplication 23825009

Variation tolerance for KRT31 Gene

Residual Variation Intolerance Score: 64.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.66; 65.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT31 Gene

Human Gene Mutation Database (HGMD)
KRT31
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT31 Gene

Disorders for KRT31 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KRT31 Gene - From: DISEASES

Disorder Aliases PubMed IDs
skin pilomatrix carcinoma
  • malignant pilomatricoma
nodular basal cell carcinoma
  • basal cell carcinoma, nodular
- elite association - COSMIC cancer census association via MalaCards
Search KRT31 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KRT31

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT31
genes like me logo Genes that share disorders with KRT31: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRT31 Gene

Publications for KRT31 Gene

  1. A cDNA encoding the human type I hair keratin hHal. (PMID: 7578244) Fink P. … Schweizer J. (Biochim. Biophys. Acta 1995) 2 3 4 64
  2. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J. … Wright M.W. (J. Cell Biol. 2006) 2 3 64
  3. The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle. (PMID: 10391933) Langbein L. … Schweizer J. (J. Biol. Chem. 1999) 3 22 64
  4. Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. (PMID: 9457912) Bowden P.E. … Hodgins M.B. (J. Invest. Dermatol. 1998) 3 4 64
  5. Characterization of a 190-kilobase pair domain of human type I hair keratin genes. (PMID: 9756910) Rogers M.A. … Schweizer J. (J. Biol. Chem. 1998) 3 4 64

Products for KRT31 Gene

Sources for KRT31 Gene

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