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    DENND6A DENN domain containing 6A [ Homo sapiens (human) ]

    Gene ID: 201627, updated on 15-Jun-2019

    Summary

    Official Symbol
    DENND6Aprovided by HGNC
    Official Full Name
    DENN domain containing 6Aprovided by HGNC
    Primary source
    HGNC:HGNC:26635
    See related
    Ensembl:ENSG00000174839
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AFI1A; FAM116A
    Expression
    Ubiquitous expression in ovary (RPKM 8.9), thyroid (RPKM 8.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See DENND6A in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (57625454..57693118, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57611181..57678816, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 12 Neighboring gene ARF4 antisense RNA 1 Neighboring gene RNA, U6atac small nuclear 26, pseudogene Neighboring gene DENND6A divergent transcript Neighboring gene sarcolemma associated protein Neighboring gene pyruvate dehydrogenase alpha 1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Pathways from BioSystems

    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
      RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ34969

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rab guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Rab guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of cell-cell adhesion mediated by cadherin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein DENND6A
    Names
    DENN domain-containing protein 6A
    DENN/MADD domain containing 6A
    family with sequence similarity 116, member A
    protein FAM116A

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_152678.3NP_689891.1  protein DENND6A

      See identical proteins and their annotated locations for NP_689891.1

      Status: VALIDATED

      Source sequence(s)
      AA605125, AC114480, AK074156, BC040291
      Consensus CDS
      CCDS33773.1
      UniProtKB/Swiss-Prot
      Q8IWF6
      Related
      ENSP00000311401.5, ENST00000311128.10
      Conserved Domains (3) summary
      pfam08616
      Location:270373
      SPA; Stabilization of polarity axis
      cl11519
      Location:171359
      DENN; DENN (AEX-3) domain
      cl26605
      Location:64201
      Avl9; Transport protein Avl9

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      57625454..57693118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713019.3XP_006713082.1  protein DENND6A isoform X1

      Conserved Domains (2) summary
      pfam08616
      Location:269372
      SPA; Stabilization of polarity axis
      cl11519
      Location:170358
      DENN; DENN (AEX-3) domain
    2. XM_017005864.1XP_016861353.1  protein DENND6A isoform X3

    3. XM_006713020.2XP_006713083.1  protein DENND6A isoform X2

      See identical proteins and their annotated locations for XP_006713083.1

      Conserved Domains (2) summary
      pfam08616
      Location:204307
      SPA; Stabilization of polarity axis
      cl11519
      Location:105293
      DENN; DENN (AEX-3) domain

    RNA

    1. XR_245100.1 RNA Sequence

    2. XR_001740057.2 RNA Sequence

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