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

Gene ID: 7306, updated on 8-Dec-2018

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

Genomic context

See TYRP1 in Genome Data Viewer
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

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?

Phenotypes

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

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
melanin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of melanin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of melanin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to thyroid hormone IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

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)

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, ENST00000388918.9
    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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