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    KRT37 keratin 37 [ Homo sapiens (human) ]

    Gene ID: 8688, updated on 28-Oct-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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    See KRT37 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41420547..41424585, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42276077..42280115, complement)
    RS_2024_09 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 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 (14) 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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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