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

Gene ID: 7306, updated on 14-Dec-2024

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; AllianceGenome:HGNC:12450
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (12693385..12710285)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (12702721..12719618)
RS_2024_09 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:12334327-12334960 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:12438630-12439130 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:12439131-12439631 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:12440846-12441628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:12463247-12463746 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:12581404 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:12636264 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:12651340 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:12660541 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:12671566 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 9:12675264 and 9:12675284 Neighboring gene LURAP1L antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 849, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:12814001-12815200 Neighboring gene leucine rich adaptor protein 1 like

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

EBI GWAS Catalog

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

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding  
enables oxidoreductase activity  
enables protein binding PubMed 
enables protein homodimerization activity  
enables tyrosinase activity PubMed 
Component Evidence Code Pubs
located_in clathrin-coated endocytic vesicle membrane PubMed 
located_in cytoplasm PubMed 
located_in endosome membrane PubMed 
located_in intracellular vesicle PubMed 
is_active_in melanosome  
located_in melanosome  
located_in melanosome membrane  
located_in melanosome membrane  

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
XP_047279797.1
XP_054219718.1

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, P78468, P78469, Q13721, Q15679
    UniProtKB/TrEMBL
    Q6LES1
    Related
    ENSP00000373570.4, ENST00000388918.10
    Conserved Domains (1) summary
    pfam00264
    Location:183417
    Tyrosinase; Common central domain of tyrosinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    12693385..12710285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423841.1XP_047279797.1  5,6-dihydroxyindole-2-carboxylic acid oxidase isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    12702721..12719618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363743.1XP_054219718.1  5,6-dihydroxyindole-2-carboxylic acid oxidase isoform X1

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