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

    Gene ID: 201627, updated on 5-Mar-2024

    Summary

    Official Symbol
    DENND6Aprovided by HGNC
    Official Full Name
    DENN domain containing 6Aprovided by HGNC
    Primary source
    HGNC:HGNC:26635
    See related
    Ensembl:ENSG00000174839 MIM:620561; AllianceGenome:HGNC:26635
    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
    Summary
    Enables guanyl-nucleotide exchange factor activity. Involved in positive regulation of cell-cell adhesion mediated by cadherin. Located in recycling endosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 8.9), thyroid (RPKM 8.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DENND6A in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (57625454..57693077, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (57665829..57733445, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57611181..57678804, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 12 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:57582608-57583807 Neighboring gene ARF4 antisense RNA 1 Neighboring gene RNA, U6atac small nuclear 26, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14481 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:57678132-57678632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14483 Neighboring gene DENND6A divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:57737311-57738510 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:57741142-57742044 and GRCh37_chr3:57742045-57742946 Neighboring gene MPRA-validated peak4671 silencer Neighboring gene sarcolemma associated protein Neighboring gene PDHA1 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ34969

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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)

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    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
      Q7Z5T4, Q8IWF6, Q8N235, Q8TEG8
      Related
      ENSP00000311401.5, ENST00000311128.10
      Conserved Domains (3) summary
      cl11519
      Location:171359
      DENN; DENN (AEX-3) domain
      cl40631
      Location:270373
      SPA; Stabilization of polarity axis
      cl40632
      Location:64201
      Avl9; Transport protein Avl9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      57625454..57693077 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713019.4XP_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_047447670.1XP_047303626.1  protein DENND6A isoform X2

    RNA

    1. XR_007095649.1 RNA Sequence

    2. XR_245100.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      57665829..57733445 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345650.1XP_054201625.1  protein DENND6A isoform X1

    2. XM_054345651.1XP_054201626.1  protein DENND6A isoform X2

    RNA

    1. XR_008486678.1 RNA Sequence

    2. XR_008486677.1 RNA Sequence