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Gene : HIP1 Homo sapiens

Name  ? huntingtin interacting protein 1 Cytological Location  7q11.23
Brief Description  huntingtin interacting protein 1
Description  The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
  • synonyms:
  • ILWEQ,
  • SHON,
  • uc003uds.4,
  • HIP1,
  • SHONbeta,
  • HIP-I,
  • ILWEQ,
  • NM_005338,
  • AF052288,
  • OTTHUMG00000156050,
  • HGNC:4913,
  • SHONgamma
  • identifiers:
  • 3092,
  • ENSG00000127946,
  • HIP1

Genome feature

Region: gene ? Length: 205679  
Location: 7:75533298-75738976 reverse strand Cyto location: 7q11.23


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results