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    KRT81 keratin 81 [ Homo sapiens (human) ]

    Gene ID: 3887, updated on 5-Aug-2018

    Summary

    Official Symbol
    KRT81provided by HGNC
    Official Full Name
    keratin 81provided by HGNC
    Primary source
    HGNC:HGNC:6458
    See related
    Ensembl:ENSG00000205426 MIM:602153; Vega:OTTHUMG00000167574
    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
    HB1; Hb-1; KRTHB1; MLN137; ghHkb1; hHAKB2-1
    Summary
    The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in placenta (RPKM 1.1), salivary gland (RPKM 0.5) and 13 other tissues See more
    Orthologs

    Genomic context

    See KRT81 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (52285913..52291515, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52679697..52685299, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 7 Neighboring gene keratin 87 pseudogene Neighboring gene keratin 88 pseudogene Neighboring gene keratin 86 Neighboring gene keratin 83 Neighboring gene keratin 89 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    keratin filament IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    keratin, type II cuticular Hb1
    Names
    K81
    MLN 137
    ghHb1
    hair keratin K2.9
    hard keratin, type II, 1
    keratin 81, type II
    keratin, hair, basic, 1
    metastatic lymph node 137 gene protein
    type II hair keratin Hb1
    type-II keratin Kb21

    NCBI Reference Sequences (RefSeq)

    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_008184.1 RefSeqGene

      Range
      5001..10603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002281.3NP_002272.2  keratin, type II cuticular Hb1

      See identical proteins and their annotated locations for NP_002272.2

      Status: REVIEWED

      Source sequence(s)
      AC121757, X81420
      Consensus CDS
      CCDS31805.1
      UniProtKB/Swiss-Prot
      Q14533
      Related
      ENSP00000369349.4, OTTHUMP00000236200, ENST00000327741.9, OTTHUMT00000395128
      Conserved Domains (4) summary
      pfam00038
      Location:105416
      Filament; Intermediate filament protein
      pfam16208
      Location:6102
      Keratin_2_head; Keratin type II head
      cl09111
      Location:225340
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
      cl23720
      Location:315383
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      52285913..52291515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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