About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:80834208-80851736 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 37.89 cM
  • Mapping Data
    254 experiments
  • Sequence Tag
Strain
Comparison
more
  • SNPs within 2kb
    152 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98881
protein coding gene Chr4:80834123-80851736 (.)
129S1/SvImJ MGP_129S1SvImJ_G0028395
protein coding gene Chr4:80390549-80408885 (+)
A/J MGP_AJ_G0028356
protein coding gene Chr4:77601129-77618709 (+)
AKR/J MGP_AKRJ_G0028305
protein coding gene Chr4:79572343-79589942 (+)
BALB/cJ MGP_BALBcJ_G0028376
protein coding gene Chr4:77861344-77878895 (+)
C3H/HeJ MGP_C3HHeJ_G0028091
protein coding gene Chr4:80191848-80209496 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028815
protein coding gene Chr4:83540977-83561510 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026115
protein coding gene Chr4:73622957-73640433 (+)
CAST/EiJ MGP_CASTEiJ_G0027532
protein coding gene Chr4:78129127-78148025 (+)
CBA/J MGP_CBAJ_G0028060
protein coding gene Chr4:86165573-86185340 (+)
DBA/2J MGP_DBA2J_G0028209
protein coding gene Chr4:77356012-77373720 (+)
FVB/NJ MGP_FVBNJ_G0028175
protein coding gene Chr4:76353445-76371300 (+)
LP/J MGP_LPJ_G0028309
protein coding gene Chr4:80710902-80728519 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028204
protein coding gene Chr4:91214094-91231625 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028852
protein coding gene Chr4:79657094-79676291 (+)
PWK/PhJ MGP_PWKPhJ_G0027255
protein coding gene Chr4:75720071-75738483 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027080
protein coding gene Chr4:77164629-77181787 (+)
WSB/EiJ MGP_WSBEiJ_G0027608
protein coding gene Chr4:79827985-79846213 (+)



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
    UniProt: P17643

  • Chr Location
    9p23; chr9:12693385-12710266 (+)  GRCh38.p7

Human Diseases
less
  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    27 phenotypes from 59 alleles in 17 genetic backgrounds
    36 phenotypes from multigenic genotypes
    7 images
    102 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22178 NCBI Gene Model | MGI Sequence Detail 17529 C57BL/6J ±  kb
    transcript NM_031202 RefSeq | MGI Sequence Detail 2755 C57BL/6  
    polypeptide P07147 UniProt | EBI | MGI Sequence Detail 537 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      Genomic 8
      cDNA 35
      Primer pair 5
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-1491, MGD-MRK-15316, MGD-MRK-23790, MGI:1336195
    References
    more
    • Summaries
      All 359
      Developmental Gene Expression 19
      Diseases 2
      Gene Ontology 15
      Phenotypes 102
    • Earliest
      J:150254 Little CC, The occurrence of three recognized coat mutations in mice. Am Naturalist. 1916;1:335-349
    • Latest
      J:266579 Onojafe IF, et al., Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3. Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):4945-4952

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory