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

    Gene ID: 7306, updated on 16-Oct-2021

    Summary

    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
    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
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    Genomic context

    See TYRP1 in Genome Data Viewer
    Location:
    9p23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (12693375..12710285)
    105.20201022 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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
    GeneReviews: Not available
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    GeneReviews: Not available
    Melanesian blond hair is caused by an amino acid change in TYRP1.
    GeneReviews: Not available
    Oculocutaneous albinism type 3
    MedGen: C0342683 OMIM: 203290 GeneReviews: Not available
    Compare labs
    Skin/hair/eye pigmentation, variation in, 11
    MedGen: C2677086 OMIM: 612271 GeneReviews: Not available
    Compare labs
    Two newly identified genetic determinants of pigmentation in Europeans.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables tyrosinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acetoacetic acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanin biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in melanocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in melanosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of melanin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in melanosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in melanosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in melanosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in melanosome membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    5,6-dihydroxyindole-2-carboxylic acid oxidase
    Names
    DHICA oxidase
    catalase B
    glycoprotein 75
    melanoma antigen gp75
    NP_000541.1

    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_011705.1 RefSeqGene

      Range
      5000..21900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000550.3NP_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)
      AL138753, AL600654, BC052608, CD679533, DA278582, X51420
      Consensus CDS
      CCDS34990.1
      UniProtKB/Swiss-Prot
      P17643
      Related
      ENSP00000373570.4, ENST00000388918.10
      Conserved Domains (1) summary
      pfam00264
      Location:183417
      Tyrosinase; Common central domain of tyrosinase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      12693375..12710285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001746372.2 RNA Sequence

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