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Gene : AP4E1 Homo sapiens

Name  ? adaptor related protein complex 4 subunit epsilon 1 Cytological Location  15q21.2
Brief Description  adaptor related protein complex 4 epsilon 1 subunit
description  This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
  • synonyms:
  • SPG51,
  • adaptor related protein complex 4 epsilon 1 subunit,
  • uc001zyx.3,
  • SPG51,
  • STUT1,
  • HGNC:573,
  • CPSQ4,
  • OTTHUMG00000172458,
  • AB030653,
  • AP-4-EPSILON,
  • AP4E1,
  • NM_001252127
  • identifiers:
  • 23431,
  • ENSG00000081014,
  • AP4E1

Genome feature

Region: gene ? Length: 97332  
Location: 15:50908569-51005900 Cyto location: 15q21.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

2 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

2011 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results