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    KRT12 keratin 12 [ Homo sapiens (human) ]

    Gene ID: 3859, updated on 20-Apr-2017
    Official Symbol
    KRT12provided by HGNC
    Official Full Name
    keratin 12provided by HGNC
    Primary source
    HGNC:HGNC:6414
    See related
    Ensembl:ENSG00000187242 MIM:601687; Vega:OTTHUMG00000133369
    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
    K12
    Summary
    KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17q21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (40861178..40867210, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39017430..39023462, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371776 Neighboring gene transmembrane protein 99 Neighboring gene keratin 10 Neighboring gene uncharacterized LOC105371777 Neighboring gene keratin 20 Neighboring gene uncharacterized LOC107985072 Neighboring gene keratin 23

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cornification TAS
    Traceable Author Statement
    more info
     
    keratinization TAS
    Traceable Author Statement
    more info
     
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intermediate filament IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    keratin, type I cytoskeletal 12
    Names
    CK-12
    cytokeratin-12
    keratin 12, type I

    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_008077.1 RefSeqGene

      Range
      5001..11033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000223.3NP_000214.1  keratin, type I cytoskeletal 12

      See identical proteins and their annotated locations for NP_000214.1

      Status: REVIEWED

      Source sequence(s)
      CV573989, D78367
      Consensus CDS
      CCDS11378.1
      UniProtKB/Swiss-Prot
      Q99456
      Related
      ENSP00000251643.4, OTTHUMP00000164524, ENST00000251643.4, OTTHUMT00000257214
      Conserved Domains (1) summary
      pfam00038
      Location:124436
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      40861178..40867210 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NW_003871091.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      10446..16478 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      39252770..39258802 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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