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Gene : AP3D1 Homo sapiens

Name  ? adaptor related protein complex 3 subunit delta 1 Cytological Location  19p13.3
Brief Description  adaptor related protein complex 3 delta 1 subunit
description  The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
  • synonyms:
  • NM_001261826,
  • ADTD,
  • U91930,
  • ADTD,
  • adaptor related protein complex 3 delta 1 subunit,
  • AP3D1,
  • HGNC:568,
  • hBLVR,
  • OTTHUMG00000180354,
  • uc002luz.4,
  • HPS10
  • identifiers:
  • 8943,
  • ENSG00000065000,
  • AP3D1

Genome feature

Region: gene ? Length: 50639  
Location: 19:2100988-2151626 reverse strand Cyto location: 19p13.3


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Function

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1 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

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

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Gene --> GO terms.

 

Other

1 Pathways

867 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results