Free for academic non-profit institutions. Other users need a Commercial license

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 Superficial Mycosis. Among its related pathways are Keratinization 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT31 Gene

Genomics for KRT31 Gene

GeneHancer (GH) Regulatory Elements for KRT31 Gene

Promoters and enhancers for KRT31 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I041397 Promoter/Enhancer 0.7 EPDnew ENCODE 558.1 -0.1 -55 1.1 KRT31 GC17P041399 KRT38
GH17I041518 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 -127.7 -127662 13.6 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B KRT19 KRT15 ENSG00000267758 SMARCE1 ACLY DHX58 KRT36 ENSG00000259623 KRT14 STAT5A
GH17I040948 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.3 +442.9 442879 11.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B NEUROD1 DMAP1 ZNF48 ETS1 TCF12 KRTAP3-2 KRT23 KRTAP2-1 KRT39 KRT40 KRTAP2-2 ENSG00000234477 KRTAP3-3 KRTAP1-5 KRTAP3-1
GH17I040908 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.3 +484.6 484617 8.7 FOXA2 MLX ARID4B SIN3A IRF4 ZNF48 ETS1 ZNF213 ARID2 ZNF143 KRT23 KRTAP3-2 MSL1 KRT20 TMEM99 KRT37 KRT28 KRT40 LOC100505782 KRT31
GH17I041534 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 9.8 -139.7 -139651 5.4 PKNOX1 CLOCK FOXA2 NFIB NEUROD1 SIN3A NFXL1 BMI1 ZBTB7B ZNF121 ENSG00000267758 SMARCE1 KRT36 STAT5A KRT35 GHDC NAGLU KRT31 LOC100505782 KRT19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRT31 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRT31 gene promoter:

Genomic Locations for KRT31 Gene

Genomic Locations for KRT31 Gene
chr17:41,393,724-41,397,592
(GRCh38/hg38)
Size:
3,869 bases
Orientation:
Minus strand
chr17:39,549,976-39,553,844
(GRCh37/hg19)

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

No Post-translational modifications

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

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

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , 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
extracellular 5
cytoskeleton 5
cytosol 5
mitochondrion 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRT31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA,HDA 23580065
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA,TAS --
GO:0070062 extracellular exosome HDA,IDA 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

SuperPathways for KRT31 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
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

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA 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 CGAP 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.

Evidence on tissue expression from TISSUES for KRT31 Gene

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

Primer Products

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 33 34
  • 98.72 (n)
dog
(Canis familiaris)
Mammalia KRT31 33
  • 89.81 (n)
-- 34
  • 89 (a)
ManyToMany
-- 34
  • 89 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Krt33a 34
  • 89 (a)
ManyToMany
Krt33b 34 16
  • 88 (a)
ManyToMany
Krt34 34
  • 88 (a)
ManyToMany
Krt31 34 33
  • 86.86 (n)
ManyToMany
cow
(Bos Taurus)
Mammalia KRT31 34 33
  • 88.7 (n)
ManyToMany
KRT33A 34
  • 87 (a)
ManyToMany
-- 34
  • 86 (a)
ManyToMany
HKA1 34
  • 86 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Krt31 33
  • 87.44 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
ManyToMany
-- 34
  • 75 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
ManyToMany
-- 34
  • 81 (a)
ManyToMany
-- 34
  • 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

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

Variants for KRT31 Gene

Sequence variations from dbSNP and Humsavar for KRT31 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000113340 -- 41,397,315(-) A/T coding_sequence_variant, synonymous_variant
rs1001526131 -- 41,397,739(-) C/T upstream_transcript_variant
rs1001777836 -- 41,398,587(-) G/A upstream_transcript_variant
rs1001923688 -- 41,396,203(-) G/C intron_variant
rs1002597644 -- 41,398,624(-) A/T upstream_transcript_variant

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

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

Disorders for KRT31 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KRT31 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
skin pilomatrix carcinoma
  • malignant pilomatricoma
superficial mycosis
  • piedra
nodular basal cell carcinoma
  • basal cell carcinoma, nodular
pityriasis versicolor
  • infection by pityrosporum furfur
- 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

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 58
  2. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3 58
  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 58
  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 58
  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 58

Products for KRT31 Gene

Sources for KRT31 Gene

Content
Loading form....