Gene

DENND1A

Species
Homo sapiens
Symbol
DENND1A
Name
DENN domain containing 1A
Synonyms
  • connecdenn
  • connecdenn 1
Biotype
protein coding gene
Automated Description
Enables guanyl-nucleotide exchange factor activity. Involved in endocytosis and regulation of Rab protein signal transduction. Located in clathrin-coated vesicle and cytosol.
RGD Description
Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13196
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
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        Models

        Model name
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        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          DENND1A molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            DENND1A role
            DENND1A genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
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            Phenotype or trait
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