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KRT37 keratin 37 [ Homo sapiens (human) ]

Gene ID: 8688, updated on 7-Apr-2024

Summary

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Official Symbol
KRT37provided by HGNC
Official Full Name
keratin 37provided by HGNC
Primary source
HGNC:HGNC:6455
See related
Ensembl:ENSG00000108417 MIM:604541; AllianceGenome:HGNC:6455
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
HA7; K37; KRTHA7
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
17q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41420547..41424585, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42276077..42280115, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39576799..39580837, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39549785-39550286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39550287-39550786 Neighboring gene keratin 31 Neighboring gene uncharacterized LOC100505782 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:39559942-39561141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39567789-39568290 Neighboring gene keratin 41, pseudogene Neighboring gene Sharpr-MPRA regulatory region 10866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39596891-39597391 Neighboring gene keratin 38 Neighboring gene keratin 43, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Characterization of a 190-kilobase pair domain of human type I hair keratin genes. Rogers MA, et al. J Biol Chem, 1998 Oct 9. PMID 9756910
  2. Human hair keratins. Yu J, et al. J Invest Dermatol, 1993 Jul. PMID 7686952
  3. The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle. Langbein L, et al. J Biol Chem, 1999 Jul 9. PMID 10391933
  4. The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain. Rogers MA, et al. Differentiation, 2004 Dec. PMID 15617563
  5. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Rausell A, et al. Proc Natl Acad Sci U S A, 2020 Jun 16. PMID 32487729, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-02-02)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated 2021-02-02)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in epithelial cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intermediate filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in intermediate filament IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
keratin, type I cuticular Ha7
Names
hair keratin, type I Ha7
keratin 37, type I
keratin, hair, acidic, 7

NCBI Reference Sequences (RefSeq)

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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_012294.1 RefSeqGene

    Range
    4986..9024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003770.5 → NP_003761.3  keratin, type I cuticular Ha7

    See identical proteins and their annotated locations for NP_003761.3

    Status: REVIEWED

    Source sequence(s)
    AC003958
    Consensus CDS
    CCDS32653.1
    UniProtKB/Swiss-Prot
    O76014
    UniProtKB/TrEMBL
    Q6A165
    Related
    ENSP00000225550.3, ENST00000225550.4
    Conserved Domains (2) summary
    pfam00038
    Location:104 → 414
    Filament; Intermediate filament protein
    cl02677
    Location:319 → 370
    POX; Associated with HOX

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    41420547..41424585 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791801.1 Reference GRCh38.p14 PATCHES

    Range
    360451..364489 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315953.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    8351..12389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    42276077..42280115 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O76014.3 GenPept UniProtKB/Swiss-Prot:O76014

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