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Tyrp1 Gene Detail
Summary
  • Symbol
    Tyrp1
  • Name
    tyrosinase-related protein 1
  • Synonyms
    isa, Oca3, TRP1, TRP-1, Tyrp
  • Feature Type
    protein coding gene
  • IDs
    MGI:98881
    NCBI Gene: 22178
  • Gene Overview
    MyGene.info: TYRP1
Location & Maps
more
  • Sequence Map
    Chr4:80834123-80851719 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17597 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    TYRP1, tyrosinase related protein 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    TYRP1, tyrosinase related protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    b-PROTEIN, CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP
  • Links
    NCBI Gene ID: 7306
    neXtProt AC: NX_P17643

  • Chr Location
    9p23; chr9:12693386-12710266 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human TYRP1 associations

Human Disease Mouse Models
       Albinism, Oculocutaneous, Type III; OCA3   OMIM: 203290
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 58 alleles in 16 genetic backgrounds
    29 phenotypes from multigenic genotypes
    7 images
    85 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    64
  • Chemically and radiation induced
    1
  • Chemically induced (ENU)
    9
  • Chemically induced (other)
    16
  • Radiation induced
    29
  • Spontaneous
    8
  • Targeted
    1
  • Genomic Mutations
    4 involving Tyrp1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000391 VEGA Gene Model | MGI Sequence Detail 17597 C57BL/6J ±  kb
transcript OTTMUST00000000938 VEGA | MGI Sequence Detail 2623 Not Applicable  
polypeptide OTTMUSP00000000409 VEGA | MGI Sequence Detail 537 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    152 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000016880 5,6-dihydroxyindole-2-carboxylic acid oxidase
  • EC
  • InterPro Domains
    IPR015559 Dihydroxyindole-2-carboxylic acid oxidase
    IPR002227 Tyrosinase copper-binding domain
    IPR008922 Uncharacterised domain, di-copper centre
Molecular
Reagents
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  • All nucleic 47
    Genomic 8
    cDNA 33
    Primer pair 5
    Other 1

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-1491, MGD-MRK-15316, MGD-MRK-23790, MGI:1336195
References
more
  • Summaries
    All 322
    Developmental Gene Expression 18
    Diseases 1
    Gene Ontology 13
    Phenotypes 85
  • Earliest
    J:150254 Little CC, The occurrence of three recognized coat mutations in mice. Am Naturalist. 1916;1:335-349
  • Latest
    J:229511 Son AI, et al., Formation of persistent hyperplastic primary vitreous in ephrin-A5-/- mice. Invest Ophthalmol Vis Sci. 2014 Mar;55(3):1594-606

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory