TYRP1 tyrosinase related protein 1 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: TYRP1provided by VGNC
Official Full Name: tyrosinase related protein 1provided by VGNC
Primary source: VGNC:VGNC:48029
See related: Ensembl:ENSCAFG00845008780
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 11

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	11	NC_051815.1 (34222689..34240515)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	11	NC_006593.4 (32027482..32045312)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	11	NC_049232.1 (33376152..33394014)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	11	NC_049271.1 (32928733..32946547)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	11	NC_049752.1 (32713987..32731848)

Chromosome 11 - NC_051815.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3.
Title: Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3.
Study identified a novel TYRP1 variant (be locus, c.1025T>G) which is significantly associated (P = 1.08 x 10-19; Fisher's exact test) with liver coat colour in Lancashire Heelers. Although this variant is homozygous in most liver Lancashire Heelers, the previously reported bs locus (c.991C>T) also segregates within the breed.
Title: A novel TYRP1 variant is associated with liver and tan coat colour in Lancashire Heelers.
the TYRP1:c.555T>G (p.Tyr185Ter) variant is not a unique, private mutation confined to one ASD pedigree but a recurrent mutation found in Australian Shepherd and Miniature American Shepherd dogs
Title: TYRP1:c.555T>G is a recurrent mutation found in Australian Shepherd and Miniature American Shepherd dogs.
the recessive brown coat color German Shepherds is caused by the b(c) allele of TYRP1
Title: The b(c) allele of TYRP1 is causative for the recessive brown (liver) colour in German Shepherd dogs.

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General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in melanocyte differentiation	IEA Inferred from Electronic Annotation more info	PubMed
involved_in melanosome organization	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in melanosome	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: 5,6-dihydroxyindole-2-carboxylic acid oxidase

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.

mRNA and Protein(s)

NM_001194966.2 → NP_001181895.2 5,6-dihydroxyindole-2-carboxylic acid oxidase precursor

Status: VALIDATED

Source sequence(s)

JAAUVH010000356

UniProtKB/TrEMBL

A0A8C0SHF9, A0A8I3N097, Q95J87

Related

ENSCAFP00845011991.1, ENSCAFT00845015439.1

Conserved Domains (1) summary

pfam00264
Location:183 → 417

Tyrosinase; Common central domain of tyrosinase