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TYRP1 (tyrosinase-related protein 1)

Identity

Other namesCAS2
CATB
GP75
OCA3
TRP
TRP1
TYRP
b-PROTEIN
HGNC (Hugo) TYRP1
LocusID (NCBI) 7306
Location 9p23
Location_base_pair Starts at 12693386 and ends at 12710266 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TYRP1   12450
Cards
Entrez_Gene (NCBI)TYRP1  7306  tyrosinase-related protein 1
GeneCards (Weizmann)TYRP1
Ensembl hg19 (Hinxton)ENSG00000107165 [Gene_View]  chr9:12693386-12710266 [Contig_View]  TYRP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000107165 [Gene_View]  chr9:12693386-12710266 [Contig_View]  TYRP1 [Vega]
ICGC DataPortalENSG00000107165
cBioPortalTYRP1
AceView (NCBI)TYRP1
Genatlas (Paris)TYRP1
WikiGenes7306
SOURCE (Princeton)TYRP1
Genomic and cartography
GoldenPath hg19 (UCSC)TYRP1  -     chr9:12693386-12710266 +  9p23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TYRP1  -     9p23   [Description]    (hg38-Dec_2013)
EnsemblTYRP1 - 9p23 [CytoView hg19]  TYRP1 - 9p23 [CytoView hg38]
Mapping of homologs : NCBITYRP1 [Mapview hg19]  TYRP1 [Mapview hg38]
OMIM115501   203290   612271   
Gene and transcription
Genbank (Entrez)AK297887 AL600654 BC052608 CD679533 CR407683
RefSeq transcript (Entrez)NM_000550
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NG_011705 NT_008413 NW_001839149 NW_004929342
Consensus coding sequences : CCDS (NCBI)TYRP1
Cluster EST : UnigeneHs.270279 [ NCBI ]
CGAP (NCI)Hs.270279
Alternative Splicing : Fast-db (Paris)GSHG0030019
Alternative Splicing GalleryENSG00000107165
Gene ExpressionTYRP1 [ NCBI-GEO ]     TYRP1 [ SEEK ]   TYRP1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17643 (Uniprot)
NextProtP17643  [Medical]
With graphics : InterProP17643
Splice isoforms : SwissVarP17643 (Swissvar)
Catalytic activity : Enzyme1.14.18.- [ Enzyme-Expasy ]   1.14.18.-1.14.18.- [ IntEnz-EBI ]   1.14.18.- [ BRENDA ]   1.14.18.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)TYROSINASE_1 (PS00497)    TYROSINASE_2 (PS00498)   
Domains : Interpro (EBI)DiOHindole_carboxylic_A_Oxase    Tyrosinase_Cu-bd    Unchr_di-copper_centre   
Related proteins : CluSTrP17643
Domain families : Pfam (Sanger)Tyrosinase (PF00264)   
Domain families : Pfam (NCBI)pfam00264   
DMDM Disease mutations7306
Blocks (Seattle)P17643
Human Protein AtlasENSG00000107165
Peptide AtlasP17643
HPRD00283
IPIIPI00015913   IPI00930372   IPI00479738   IPI00947481   
Protein Interaction databases
DIP (DOE-UCLA)P17643
IntAct (EBI)P17643
FunCoupENSG00000107165
BioGRIDTYRP1
IntegromeDBTYRP1
STRING (EMBL)TYRP1
Ontologies - Pathways
QuickGOP17643
Ontology : AmiGOcopper ion binding  protein binding  endosome membrane  integral component of membrane  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen  melanocyte differentiation  clathrin-coated endocytic vesicle membrane  melanosome organization  melanosome membrane  melanin biosynthetic process  melanosome  protein homodimerization activity  acetoacetic acid metabolic process  protein heterodimerization activity  oxidation-reduction process  
Ontology : EGO-EBIcopper ion binding  protein binding  endosome membrane  integral component of membrane  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen  melanocyte differentiation  clathrin-coated endocytic vesicle membrane  melanosome organization  melanosome membrane  melanin biosynthetic process  melanosome  protein homodimerization activity  acetoacetic acid metabolic process  protein heterodimerization activity  oxidation-reduction process  
Pathways : KEGGTyrosine metabolism    Melanogenesis   
Protein Interaction DatabaseTYRP1
DoCM (Curated mutations)TYRP1
Wikipedia pathwaysTYRP1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTYRP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TYRP1
dbVarTYRP1
ClinVarTYRP1
1000_GenomesTYRP1 
Exome Variant ServerTYRP1
SNP (GeneSNP Utah)TYRP1
SNP : HGBaseTYRP1
Genetic variants : HAPMAPTYRP1
Genomic VariantsTYRP1  TYRP1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000107165 
Somatic Mutations in Cancer : COSMICTYRP1 
CONAN: Copy Number AnalysisTYRP1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:12693386-12710266
Mutations and Diseases : HGMDTYRP1
OMIM115501    203290    612271   
MedgenTYRP1
NextProtP17643 [Medical]
GENETestsTYRP1
Disease Genetic AssociationTYRP1
Huge Navigator TYRP1 [HugePedia]  TYRP1 [HugeCancerGEM]
snp3D : Map Gene to Disease7306
DGIdb (Drug Gene Interaction db)TYRP1
General knowledge
Homologs : HomoloGeneTYRP1
Homology/Alignments : Family Browser (UCSC)TYRP1
Phylogenetic Trees/Animal Genes : TreeFamTYRP1
Chemical/Protein Interactions : CTD7306
Chemical/Pharm GKB GenePA37101
Clinical trialTYRP1
Cancer Resource (Charite)ENSG00000107165
Other databases
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
CoreMineTYRP1
GoPubMedTYRP1
iHOPTYRP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:09:54 CET 2014

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