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Gene : EHD1 Homo sapiens

Name  ? EH domain containing 1 Cytological Location  11q13.1
Brief Description  EH domain containing 1
Description  This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
  • synonyms:
  • PAST1,
  • H-PAST,
  • uc001obu.3,
  • FLJ44618,
  • NM_006795,
  • FLJ42622,
  • HGNC:3242,
  • AF099011,
  • HPAST1,
  • HPAST1,
  • H-PAST,
  • PAST1,
  • OTTHUMG00000066832,
  • EHD1,
  • PAST,
  • testilin
  • identifiers:
  • 10938,
  • ENSG00000110047,
  • EHD1

Genome feature

Region: gene ? Length: 28072  
Location: 11:64851642-64879713 reverse strand Cyto location: 11q13.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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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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Expression

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

Gene Ontology

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Other

350 SN Ps

5 Cross References

16 Data Sets

17 Homologues

0 Located Features

97 Rna Seq Results