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Aliases for EGID-107080646 Gene

Aliases for EGID-107080646 Gene

  • Tyrosinase 5' Upstream Regulatory Sequence 3
  • Tyrosinase 5 Upstream Regulatory Sequence 3
  • HLCR 3
  • 5URS 3

External Ids for EGID-107080646 Gene

Summaries for EGID-107080646 Gene

Entrez Gene Summary for EGID-107080646 Gene

  • This element represents an enhancer that can drive expression of the tyrosinase (TYR) gene in melanocytes. It is located approximately 9 kb upstream of the TYR gene, and is characterized by a melanocyte-specific DNase I hypersensitive site. The orthologous mouse element can function as a locus control region (LCR) that confers high-level and copy number-dependent expression on the tyrosinase gene in melanocytes of transgenic mice. Mutations in the TYR gene are known to result in oculocutaneous albinism (OCA1), but since not all OCA1 cases are associated with mutations in the gene itself, it is thought that mutations in this regulatory element may account for a subset of OCA1 cases for which the molecular basis has yet to be established. [provided by RefSeq, Jan 2016]

GeneCards Summary for EGID-107080646 Gene

EGID-107080646 (Tyrosinase 5' Upstream Regulatory Sequence) is an Uncategorized gene.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EGID-107080646 Gene

Genomics for EGID-107080646 Gene

Genomic Location for EGID-107080646 Gene

Chromosome:
11
Orientation:
Unknown strand

Genomic View for EGID-107080646 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

No data available for Regulatory Elements and RefSeq DNA sequence for EGID-107080646 Gene

Proteins for EGID-107080646 Gene

Post-translational modifications for EGID-107080646 Gene

No Post-translational modifications

No data available for DME Specific Peptides for EGID-107080646 Gene

Domains & Families for EGID-107080646 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for EGID-107080646 Gene

Function for EGID-107080646 Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EGID-107080646 Gene

Localization for EGID-107080646 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for EGID-107080646 Gene

Pathways & Interactions for EGID-107080646 Gene

SuperPathways for EGID-107080646 Gene

No Data Available

Interacting Proteins for EGID-107080646 Gene

Gene Ontology (GO) - Biological Process for EGID-107080646 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EGID-107080646 Gene

Drugs & Compounds for EGID-107080646 Gene

No Compound Related Data Available

Transcripts for EGID-107080646 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for EGID-107080646 Gene

No ASD Table

No data available for mRNA/cDNA for EGID-107080646 Gene

Expression for EGID-107080646 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EGID-107080646 Gene

Orthologs for EGID-107080646 Gene

No data available for Orthologs and Evolution for EGID-107080646 Gene

Paralogs for EGID-107080646 Gene

No data available for Paralogs for EGID-107080646 Gene

Variants for EGID-107080646 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Relevant External Links for EGID-107080646 Gene

Disorders for EGID-107080646 Gene

No disorders were found for EGID-107080646 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for EGID-107080646 Gene

Publications for EGID-107080646 Gene

  1. A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. (PMID: 24721949) Lin Y.Y. … Zhu W. (Eur J Dermatol 2014) 3 64
  2. Global patterns of diversity and selection in human tyrosinase gene. (PMID: 24040225) Hudjashov G. … Kivisild T. (PLoS ONE 2013) 3 64
  3. Regulation of the human tyrosinase gene in retinal pigment epithelium cells: the significance of transcription factor orthodenticle homeobox 2 and its polymorphic binding site. (PMID: 22259223) Reinisalo M. … Honkakoski P. (Mol. Vis. 2012) 3 64
  4. Genome-wide association study of tanning phenotype in a population of European ancestry. (PMID: 19340012) Nan H. … Han J. (J. Invest. Dermatol. 2009) 3 64
  5. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. (PMID: 18326704) Hutton S.M. … Spritz R.A. (Invest. Ophthalmol. Vis. Sci. 2008) 3 64

Products for EGID-107080646 Gene

Sources for EGID-107080646 Gene

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