KRT31 Gene (Protein Coding)

Keratin 31

GC17M041393
GIFtS:
37
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] See more...

Aliases for KRT31 Gene

Aliases for KRT31 Gene

  • Keratin 31 2 3 5
  • Keratin, Type I Cuticular Ha1 3 4
  • Hair Keratin, Type I Ha1 3 4
  • Keratin 31, Type I 2 3
  • KRTHA1 3 4
  • Ha-1 2 3
  • K31 3 4
  • 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
  • KRT31 5
  • HHa1 3
  • HHA1 4
  • 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 Hair Follicle Neoplasm. Among its related pathways are Relaxin signaling pathway and Developmental Biology. Gene Ontology (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

Additional gene information for KRT31 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT31 Gene

Genomics for KRT31 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KRT31 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT31 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT31

Top Transcription factor binding sites by QIAGEN in the KRT31 gene promoter:
  • Bach2
  • c-Myb
  • E47
  • FAC1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • MRF-2
  • Nkx2-5
  • Tal-1

Genomic Locations for KRT31 Gene

Latest Assembly
chr17:41,393,721-41,397,608
(GRCh38/hg38)
Size:
3,888 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,549,973-39,553,860
(GRCh37/hg19 by Entrez Gene)
Size:
3,888 bases
Orientation:
Minus strand

chr17:39,549,976-39,553,844
(GRCh37/hg19 by Ensembl)
Size:
3,869 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):35,353-39,240 (+)

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 Structure • Gene Density

RefSeq DNA sequence for KRT31 Gene

Proteins for KRT31 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for KRT31 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT31 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Type I keratin signature

Suggested Antigen Peptide Sequences for KRT31 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-31 (K1H1_HUMAN)

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

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Phenotypes From GWAS Catalog for KRT31 Gene

Gene Ontology (GO) - Molecular Function for KRT31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
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 Models for KRT31 Gene

MGI Knock Outs for KRT31:
  • Krt31 Krt31<tm1e(KOMP)Wtsi>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT31

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

Localization for KRT31 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT31 gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 4
mitochondrion 2
nucleus 2
plasma membrane 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for KRT31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament TAS,IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with KRT31: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT31 Gene

Pathways & Interactions for KRT31 Gene

genes like me logo Genes that share pathways with KRT31: view

Pathways by source for KRT31 Gene

2 Reactome pathways 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
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT31: view

No data available for SIGNOR curated interactions for KRT31 Gene

Drugs & Compounds for KRT31 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for KRT31 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for KRT31 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT31

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

No ASD Table

Relevant External Links for KRT31 Gene

GeneLoc Exon Structure for
KRT31

Expression for KRT31 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for KRT31 Gene
mRNA expression by GTEx for KRT31 GenemRNA expression by BioGPS 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 and MOPED for KRT31 Gene



Protein tissue co-expression partners for KRT31 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for KRT31 Gene

  • Skin(4.5)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with KRT31: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT31 Gene

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 29 30
  • 98.72 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KRT31 29
  • 89.81 (n)
-- 30
  • 89 (a)
 ManyToMany
-- 30
  • 89 (a)
 ManyToMany
Mouse
(Mus musculus)
 Mammalia Krt33a 16 30
  • 89 (a)
 ManyToMany
Krt33b 16 30
  • 88 (a)
 ManyToMany
Krt34 30
  • 88 (a)
 ManyToMany
Krt31 29 16 30
  • 86.86 (n)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia KRT31 29 30
  • 88.7 (n)
 ManyToMany
KRT33A 30
  • 87 (a)
 ManyToMany
-- 30
  • 86 (a)
 ManyToMany
HKA1 30
  • 86 (a)
 ManyToMany
Rat
(Rattus norvegicus)
 Mammalia Krt31 29
  • 87.44 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 86 (a)
 ManyToMany
-- 30
  • 75 (a)
 ManyToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 82 (a)
 ManyToMany
-- 30
  • 81 (a)
 ManyToMany
-- 30
  • 80 (a)
 ManyToMany
Species where no ortholog for KRT31 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KRT31: view image
Alliance of Genome Resources:
Additional Orthologs for KRT31

Paralogs for KRT31 Gene

Paralogs for KRT31 Gene

(38) SIMAP similar genes for KRT31 Gene using alignment to 1 proteins:

  • K1H1_HUMAN
genes like me logo Genes that share paralogs with KRT31: view

Variants for KRT31 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT31 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs6503626 Benign: not provided 41,395,281(-) G/A
NM_002277.3(KRT31):c.840C>T (p.Asn280=) 		SYNONYMOUS
rs34293483 -- p.Ala377Val
rs6503627 -- p.Ala82Val
rs6503628 -- p.Ala39Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT31 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KRT31 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for KRT31 Gene

MalaCards: The human disease database

(8) MalaCards diseases for KRT31 Gene - From: COP

Disorder Aliases PubMed IDs
skin pilomatrix carcinoma
  • malignant pilomatricoma
hair follicle neoplasm
  • hair matrix neoplasm
inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1
  • ibmpfd1
pilomatrixoma
  • pilomatricoma; ptr
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

Additional Disease Information for KRT31

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (Biochimica et biophysica acta 1995) 2 3 4
  2. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3
  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 (The Journal of biological chemistry 1999) 3 22
  4. Characterization of a 190-kilobase pair domain of human type I hair keratin genes. (PMID: 9756910) Rogers MA … Schweizer J (The Journal of biological chemistry 1998) 3 4
  5. Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. (PMID: 9457912) Bowden PE … Hodgins MB (The Journal of investigative dermatology 1998) 3 4

ExternalLinks

View latest publications for KRT31 gene in Mastermind

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