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Gene : DENND5A Homo sapiens

Name  ? DENN domain containing 5A Cytological Location  11p15.4
Brief Description  DENN domain containing 5A
Description  This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]
  • synonyms:
  • EIEE49,
  • uc001mhl.5,
  • FLJ33829,
  • DENND5A,
  • FLJ22354,
  • KIAA1091,
  • HGNC:19344,
  • DENN/MADD domain containing 5A,
  • RAB6 interacting protein 1,
  • RAB6IP1,
  • RAB6IP1,
  • AB029014,
  • NM_015213,
  • OTTHUMG00000165716,
  • FLJ43455
  • identifiers:
  • 23258,
  • ENSG00000184014,
  • DENND5A

Genome feature

Region: gene ? Length: 126526  
Location: 11:9138825-9265350 reverse strand Cyto location: 11p15.4


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results