Atlas of Genetics and Cytogenetics in Oncology and Haematology


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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
Atlas_Id 46370
Location 9p23
Location_base_pair Starts at 12693386 and ends at 12710266 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACO1 (9p21.1) / TYRP1 (9p23)LURAP1L (9p23) / TYRP1 (9p23)RALGPS1 (9q33.3) / TYRP1 (9p23)
ZMYND8 (20q13.12) / TYRP1 (9p23)ACO1 9p21.1 / TYRP1 9p23C9orf150 TYRP1 9p23
RALGPS1 9q33.3 / TYRP1 9p23

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

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Oculocutaneous Albinism

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
TCGA 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)NC_000009 NC_018920 NG_011705 NT_008413 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 [ EBI - ARRAY_EXPRESS ]   TYRP1 [ SEEK ]   TYRP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TYRP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)7306
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17643 (Uniprot)
NextProtP17643  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusP17643
Domaine pattern : Prosite (Expaxy)TYROSINASE_1 (PS00497)    TYROSINASE_2 (PS00498)   
Domains : Interpro (EBI)DiOHindole_carboxylic_A_Oxase    Tyrosinase_Cu-bd    Unchr_di-copper_centre   
Domain families : Pfam (Sanger)Tyrosinase (PF00264)   
Domain families : Pfam (NCBI)pfam00264   
DMDM Disease mutations7306
Blocks (Seattle)TYRP1
SuperfamilyP17643
Human Protein AtlasENSG00000107165
Peptide AtlasP17643
HPRD00283
IPIIPI00015913   IPI00930372   IPI00479738   IPI00947481   
Protein Interaction databases
DIP (DOE-UCLA)P17643
IntAct (EBI)P17643
FunCoupENSG00000107165
BioGRIDTYRP1
STRING (EMBL)TYRP1
ZODIACTYRP1
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  positive regulation of melanin biosynthetic process  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  positive regulation of melanin biosynthetic process  oxidation-reduction process  
Pathways : KEGGTyrosine metabolism    Melanogenesis   
NDEx Network
Atlas of Cancer Signalling NetworkTYRP1
Wikipedia pathwaysTYRP1
Orthology - Evolution
OrthoDB7306
GeneTree (enSembl)ENSG00000107165
Phylogenetic Trees/Animal Genes : TreeFamTYRP1
Homologs : HomoloGeneTYRP1
Homology/Alignments : Family Browser (UCSC)TYRP1
Gene fusions - Rearrangements
Fusion: TCGAACO1 9p21.1 TYRP1 9p23 BRCA
Fusion: TCGAC9orf150 TYRP1 9p23 BRCA
Fusion: TCGARALGPS1 9q33.3 TYRP1 9p23 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerTYRP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TYRP1
dbVarTYRP1
ClinVarTYRP1
1000_GenomesTYRP1 
Exome Variant ServerTYRP1
ExAC (Exome Aggregation Consortium)TYRP1 (select the gene name)
SNP (GeneSNP Utah)TYRP1
SNP : HGBaseTYRP1
Genetic variants : HAPMAPTYRP1
Genomic Variants (DGV)TYRP1 [DGVbeta]
Mutations
ICGC Data PortalTYRP1 
TCGA Data PortalTYRP1 
Broad Tumor PortalTYRP1
OASIS PortalTYRP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTYRP1 
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
BioMutasearch TYRP1
DgiDB (Drug Gene Interaction Database)TYRP1
DoCM (Curated mutations)TYRP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TYRP1 (select a term)
intoGenTYRP1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:12693386-12710266
CONAN: Copy Number AnalysisTYRP1 
Mutations and Diseases : HGMDTYRP1
OMIM115501    203290    612271   
MedgenTYRP1
Genetic Testing Registry TYRP1
NextProtP17643 [Medical]
TSGene7306
GENETestsTYRP1
Huge Navigator TYRP1 [HugePedia]  TYRP1 [HugeCancerGEM]
snp3D : Map Gene to Disease7306
BioCentury BCIQTYRP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7306
Chemical/Pharm GKB GenePA37101
Clinical trialTYRP1
Miscellaneous
canSAR (ICR)TYRP1 (select the gene name)
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTYRP1
GoPubMedTYRP1
iHOPTYRP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sat Apr 16 18:08:55 CEST 2016

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