GEPHE SUMMARY Print
Gephebase Gene
tyrosinase (TYR)
Entry Status
Published
GepheID
GP00002313
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Morphology
Trait
Coloration (coat)
Trait State in Taxon A
WT
Trait State in Taxon B
Complete albinism
Ancestral State
Taxon A
Taxonomic Status
Domesticated
Taxon A
Latin Name
Felis catus
Common Name
domestic cat
Synonyms
Felis domesticus; Felis silvestris catus; domestic cat; cat; cats; Felis catus Linnaeus, 1758; Korat cats L.
Rank
species
Lineage
Show more ... thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
Parent
Felis () - (Rank: genus)
NCBI Taxonomy ID
9685
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Felis catus
Common Name
domestic cat
Synonyms
Felis domesticus; Felis silvestris catus; domestic cat; cat; cats; Felis catus Linnaeus, 1758; Korat cats L.
Rank
species
Lineage
Show more ... thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
Parent
Felis () - (Rank: genus)
NCBI Taxonomy ID
9685
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Tyr
Synonyms
c; Oca1; skc35; albino
String
10090.ENSMUSP00000004770
Sequence Similarities
Belongs to the tyrosinase family.
GO - Molecular Function
GO:0042803 : protein homodimerization activity ... show more
GO - Biological Process
GO:0042438 : melanin biosynthetic process ... show more
GO - Cellular Component
GO:0016021 : integral component of membrane ... show more
UniProtKB
Mus musculus
P11344
GenebankID or UniProtKB
AAY32311
Presumptive Null
Yes
Molecular Type
Coding
Aberration Type
SNP
SNP Coding Change
Nonsense
Molecular Details of the Mutation
c.1204C>T p.R402*
Experimental Evidence
Candidate Gene
Taxon A Taxon B Position
Codon - - -
Amino-acid Arg STP 402
Main Reference
Allelic heterogeneity of albinism in the domestic cat. (2017)
Authors
Abitbol M; Bossé P; Grimard B; Martignat L; Tiret L
Abstract
-
Additional References
RELATED GEPHE
Related Genes
6 (Agouti, Kit (type III receptor protein-tyrosine kinase), MC1R, Melanophilin (MLPH), Taqpep, tyrosinase-related protein 1 (TYRP1))
Related Haplotypes
4
EXTERNAL LINKS
COMMENTS
@Parallelism @AllelicSeries https://omia.org/OMIA000202/9685/
YOUR FEEDBACK is welcome!