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    TCHH trichohyalin [ Homo sapiens (human) ]

    Gene ID: 7062, updated on 12-May-2019

    Summary

    Official Symbol
    TCHHprovided by HGNC
    Official Full Name
    trichohyalinprovided by HGNC
    Primary source
    HGNC:HGNC:11791
    See related
    Ensembl:ENSG00000159450 MIM:190370
    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
    THH; THL; TRHY; UHS3
    Summary
    The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]
    Expression
    Biased expression in placenta (RPKM 1.2), spleen (RPKM 1.1) and 13 other tissues See more
    Orthologs

    Genomic context

    See TCHH in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (152106317..152115454, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152078793..152087930, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene putative UPF0607 protein ENSP00000383783 Neighboring gene trichohyalin like 1 Neighboring gene pseudouridine 5'-phosphatase pseudogene 2 Neighboring gene repetin

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Uncombable hair syndrome 3
    MedGen: C4310648 OMIM: 617252 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Common variants in the trichohyalin gene are associated with straight hair in Europeans.
    NHGRI GWA Catalog
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    NHGRI GWA Catalog

    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...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • 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

    Clone Names

    • MGC157889, MGC157890

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    transition metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    cornification TAS
    Traceable Author Statement
    more info
     
    intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cornified envelope TAS
    Traceable Author Statement
    more info
     
    cytoskeleton NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     

    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_052960.1 RefSeqGene

      Range
      5001..14138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007113.3NP_009044.2  trichohyalin

      See identical proteins and their annotated locations for NP_009044.2

      Status: REVIEWED

      Source sequence(s)
      AL589986
      Consensus CDS
      CCDS41396.1
      UniProtKB/Swiss-Prot
      Q07283
      Related
      ENSP00000480484.1, ENST00000614923.1
      Conserved Domains (2) summary
      cd00213
      Location:289
      S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...
      pfam13868
      Location:14351752
      TPH; Trichohyalin-plectin-homology domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      152106317..152115454 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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