Gene table of TYRP1 : tyrosinase related protein 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with TYRP1OMIM linkNumber of associated genesgenes
PS203100OCULOCUTANEOUS ALBINISMClinVar, OMIM, HUMSAVAR link to OMIM 7SLC45A2, C10orf11, TYRP1, OCA2, TYR, MC1R, SLC24A5
PS227220SKIN/HAIR/EYE PIGMENTATION, VARIATION INClinVar, OMIM link to OMIM 12SLC45A2, KITLG, TYRP1, SLC24A4, ASIP, TPCN2, IRF4, HERC2, TYR, MC1R, SLC24A5, OCA2

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Annotation of the gene TYRP1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Melanogenesishsa049165.97
Metabolic pathwayshsa011002.49
Tyrosine metabolismhsa003507.64
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
oxidoreductase activityGO:00164913.12
cation bindingGO:00431691.4
monooxygenase activityGO:00044975.1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygenGO:00167168.64
transition metal ion bindingGO:00469142.48
metal ion bindingGO:00468721.41
protein heterodimerization activityGO:00469823.64
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygenGO:00167054.65
ion bindingGO:00431671.36
catalytic activityGO:00038241.05
bindingGO:00054880.18
protein bindingGO:00055150.46
protein dimerization activityGO:00469832.72
copper ion bindingGO:00055075.71
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16