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    Dennd6a DENN domain containing 6A [ Mus musculus (house mouse) ]

    Gene ID: 211922, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Dennd6aprovided by MGI
    Official Full Name
    DENN domain containing 6Aprovided by MGI
    Primary source
    MGI:MGI:2442980
    See related
    Ensembl:ENSMUSG00000040818 AllianceGenome:MGI:2442980
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fam116a
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in positive regulation of cell-cell adhesion mediated by cadherin. Predicted to be located in cytoplasm and intracellular membrane-bounded organelle. Predicted to be active in recycling endosome. Orthologous to human DENND6A (DENN domain containing 6A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta adult (RPKM 4.7), bladder adult (RPKM 4.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    14 A3; 14 16.09 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (26295013..26355477)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (26573858..26634322)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene Kruppel-like factor 17 pseudogene Neighboring gene ribosomal protein S8 pseudogene Neighboring gene STARR-seq mESC enhancer starr_36241 Neighboring gene ADP-ribosylation factor 4 Neighboring gene phosphodiesterase 12 Neighboring gene microRNA 7672

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Prediction of the coding sequences of mouse homologues of FLJ genes: the complete nucleotide sequences of 110 mouse FLJ-homologous cDnas identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Apr 30. PMID 15449545
    2. Global discovery of erythroid long noncoding RNAs reveals novel regulators of red cell maturation. Alvarez-Dominguez JR, et al. Blood, 2014 Jan 23. PMID 24200680, Free PMC Article
    3. New roles for the de-ubiquitylating enzyme OTUD4 in an RNA-protein network and RNA granules. Das R, et al. J Cell Sci, 2019 Jun 17. PMID 31138677, Free PMC Article
    4. Widespread and dynamic translational control of red blood cell development. Alvarez-Dominguez JR, et al. Blood, 2017 Feb 2. PMID 27899360, Free PMC Article
    5. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC38041, mFLJ00229, A630054L15Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of cell-cell adhesion mediated by cadherin ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    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_001134465.2 → NP_001127937.1  protein DENND6A isoform a

      See identical proteins and their annotated locations for NP_001127937.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC121919, AK054295, AK131163
      Consensus CDS
      CCDS49430.1
      UniProtKB/Swiss-Prot
      Q3UX21, Q6KAP4, Q8BH65, Q8BSG0, Q8C4Z7, Q8K2E8, Q8R136
      Related
      ENSMUSP00000039361.8, ENSMUST00000037585.9
      Conserved Domains (2) summary
      pfam08616
      Location:267 → 370
      SPA; Stabilization of polarity axis
      cl11519
      Location:168 → 356
      DENN; DENN (AEX-3) domain

    2. NM_001285466.1 → NP_001272395.1  protein DENND6A isoform c

      See identical proteins and their annotated locations for NP_001272395.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons, uses an alternate 5'-terminal exon, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Both variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AC121919, AK033036, AK131163
      Consensus CDS
      CCDS88601.1
      UniProtKB/Swiss-Prot
      Q8BH65
      Related
      ENSMUSP00000152966.2, ENSMUST00000224248.2
      Conserved Domains (1) summary
      cl40631
      Location:43 → 146
      SPA; Stabilization of polarity axis

    3. NM_001285467.1 → NP_001272396.1  protein DENND6A isoform c

      See identical proteins and their annotated locations for NP_001272396.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5'-terminal exon, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Both variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AC121919, AK131163, AK135953, AK163396
      Consensus CDS
      CCDS88601.1
      UniProtKB/Swiss-Prot
      Q8BH65
      Related
      ENSMUSP00000153187.2, ENSMUST00000224111.2
      Conserved Domains (1) summary
      cl40631
      Location:43 → 146
      SPA; Stabilization of polarity axis

    4. NM_145969.4 → NP_666081.1  protein DENND6A isoform b

      See identical proteins and their annotated locations for NP_666081.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC132111, AK054295, AK131163, AK161908
      Consensus CDS
      CCDS84101.1
      UniProtKB/Swiss-Prot
      Q8BH65
      Related
      ENSMUSP00000144906.2, ENSMUST00000203874.3
      Conserved Domains (2) summary
      pfam08616
      Location:267 → 370
      SPA; Stabilization of polarity axis
      cl11519
      Location:168 → 356
      DENN; DENN (AEX-3) domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      26295013..26355477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158533.1 → XP_036014426.1  protein DENND6A isoform X1

      Conserved Domains (1) summary
      cl40631
      Location:43 → 146
      SPA; Stabilization of polarity axis

    2. XM_006518778.1 → XP_006518841.1  protein DENND6A isoform X1

      See identical proteins and their annotated locations for XP_006518841.1

      UniProtKB/Swiss-Prot
      Q8BH65
      Conserved Domains (1) summary
      cl40631
      Location:43 → 146
      SPA; Stabilization of polarity axis
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BH65.1 GenPept UniProtKB/Swiss-Prot:Q8BH65

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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