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    TYRP1 tyrosinase related protein 1 [ Homo sapiens (human) ]

    Gene ID: 7306, updated on 8-Apr-2018
    Official Symbol
    TYRP1provided by HGNC
    Official Full Name
    tyrosinase related protein 1provided by HGNC
    Primary source
    HGNC:HGNC:12450
    See related
    Ensembl:ENSG00000107165 MIM:115501; Vega:OTTHUMG00000021034
    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
    TRP; CAS2; CATB; GP75; OCA3; TRP1; TYRP; b-PROTEIN
    Summary
    This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
    Expression
    Biased expression in skin (RPKM 66.6), heart (RPKM 17.1) and 1 other tissue See more
    Orthologs
    Location:
    9p23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (12693375..12710266)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (12693385..12710285)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene JNK1/MAPK8-associated membrane protein pseudogene 1 Neighboring gene RNA, U2 small nuclear 47, pseudogene Neighboring gene LURAP1L antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 849, pseudogene Neighboring gene leucine rich adaptor protein 1 like

    • 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?

    Associated conditions

    Description Tests
    Oculocutaneous albinism type 3
    MedGen: C1859932 OMIM: 203290 GeneReviews: Not available
    Compare labs
    Skin/hair/eye pigmentation, variation in, 11
    MedGen: C2677086 OMIM: 612271 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
    NHGRI GWA Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    NHGRI GWA Catalog
    Melanesian blond hair is caused by an amino acid change in TYRP1.
    NHGRI GWA Catalog
    Two newly identified genetic determinants of pigmentation in Europeans.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Pol gag-pol HIV-1 Pol is identified to have a physical interaction with tyrosinase-related protein 1 (TYRP1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    acetoacetic acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    melanin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    melanin biosynthetic process TAS
    Traceable Author Statement
    more info
     
    melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    melanosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of melanin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    clathrin-coated endocytic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    melanosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanosome membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    5,6-dihydroxyindole-2-carboxylic acid oxidase
    Names
    DHICA oxidase
    catalase B
    glycoprotein 75
    melanoma antigen gp75
    NP_000541.1

    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_011705.1 RefSeqGene

      Range
      5001..21881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000550.2NP_000541.1  5,6-dihydroxyindole-2-carboxylic acid oxidase precursor

      See identical proteins and their annotated locations for NP_000541.1

      Status: REVIEWED

      Source sequence(s)
      AL600654, BC052608, CD679533, DA278582, X51420
      Consensus CDS
      CCDS34990.1
      UniProtKB/Swiss-Prot
      P17643
      Related
      ENSP00000373570.4, OTTHUMP00000022788, ENST00000388918.9, OTTHUMT00000055502
      Conserved Domains (1) summary
      pfam00264
      Location:183417
      Tyrosinase; Common central domain of tyrosinase

    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_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      12693375..12710266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001746372.2 RNA Sequence

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