Tyrp1
Gene Detail

Symbol Name ID

Tyrp1 tyrosinase-related protein 1 MGI:98881

STS

D4Mit174

Synonyms

isa, TRP1, TRP-1, Tyrp

Feature Type

protein coding gene

Genetic Map

Chromosome 4

37.89 cM
Detailed Genetic Map ± 1 cM


Mapping data(253)

Sequence Map

Chr4:80834123-80851719 bp, + strand From VEGA annotation of GRCm38   17597 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic; goat; horse    (Mammalian Orthology)
Comparative Map (Mouse/Human Tyrp1 ± 2 cM)

Protein SuperFamily: monophenol monooxygenase
Gene Tree: Tyrp1

Human ortholog

TYRP1 tyrosinase-related protein 1 NCBI Gene ID 7306
Human Synonyms: b-PROTEIN, CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP
Human Chr9:12693386-12710266 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human TYRP1 (2)

Alleles and phenotypes

All alleles(59) : Targeted(1) Spontaneous(8) Chemically induced(22) Radiation induced(29)
 

The major influence of mutations at this locus is to change eumelanin from a black to a brown pigment in the coat and eyes in varying degrees. Semidominant mutants result in melanocyte degeneration causing reduced pigmentation and progressive hearing loss.

 
Human Diseases Modeled Using Mouse Tyrp1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(6)

Gene Ontology (GO) classifications

All GO classifications: (27 annotations)

Process	acetoacetic acid metabolic process, melanin biosynthetic process, ...
Component	clathrin-coated endocytic vesicle membrane, endosome membrane, ...
Function	copper ion binding, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (14 records)
Data Summary: Results (213)    Tissues (112)    Images (50)
Theiler Stages: 19, 22, 23, 28

Assay Type	Results
RNA in situ	211
RT-PCR	2

cDNA source data(32)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(47) Genomic(8) cDNA(33) Primer pair(5) Other(1)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000000391 (Evidence)
Ensembl Gene Model	ENSMUSG00000005994 (Evidence)
Entrez Gene	22178 (Evidence)
UniGene	30438
DFCI	TC1571920, TC1654890
DoTS	DT.103564283, DT.110794123, DT.110794136, DT.50315220
NIA Mouse Gene Index	U004439
EC	1.14.18.-
Consensus CDS Project	CCDS18290.1
International Mouse Knockout Project Status	Tyrp1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000000391	VEGA Gene Model | MGI Sequence Detail	17597	C57BL/6J
transcript	OTTMUST00000000938	VEGA | MGI Sequence Detail	2623	Not Applicable
polypeptide	OTTMUSP00000000409	VEGA | MGI Sequence Detail	537	Not Applicable

All sequences(166) RefSeq(2) UniProt(5)

Polymorphisms

All PCR and RFLP(13) : PCR(3) RFLP(10) SNPs(123 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR015559	Dihydroxyindole-2-carboxylic acid oxidase
InterPro	IPR002227	Tyrosinase
InterPro	IPR008922	Uncharacterised domain, di-copper centre
Protein Ontology	PR:000016880	5,6-dihydroxyindole-2-carboxylic acid oxidase

References

(Earliest) J:150254 Little CC, The occurrence of three recognized coat mutations in mice. Am Naturalist. 1916;1:335-349
(Latest) J:184523 Kenny EE, et al., Melanesian blond hair is caused by an amino acid change in TYRP1. Science. 2012 May 4;336(6081):554
All references(318)

Other accession IDs

MGD-MRK-1491, MGD-MRK-15316, MGD-MRK-23790, MGI:1336195