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    Dennd3 DENN domain containing 3 [ Mus musculus (house mouse) ]

    Gene ID: 105841, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Dennd3provided by MGI
    Official Full Name
    DENN domain containing 3provided by MGI
    Primary source
    MGI:MGI:2146009
    See related
    Ensembl:ENSMUSG00000036661 AllianceGenome:MGI:2146009
    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
    E030003N15Rik
    Summary
    Enables guanyl-nucleotide exchange factor activity. Involved in cellular protein catabolic process and endosome to lysosome transport. Predicted to be located in cytoplasm. Predicted to be active in cytoplasmic vesicle. Orthologous to human DENND3 (DENN domain containing 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lung adult (RPKM 25.2), spleen adult (RPKM 16.5) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    15 D3; 15 34.01 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (73384333..73444091)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (73512560..73572242)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_38960 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene STARR-seq mESC enhancer starr_38961 Neighboring gene STARR-positive B cell enhancer ABC_E7381 Neighboring gene STARR-positive B cell enhancer mm9_chr15:73342795-73343096 Neighboring gene cytochrome b-c1 complex subunit 6, mitochondrial pseudogene Neighboring gene STARR-seq mESC enhancer starr_38965 Neighboring gene solute carrier family 45, member 4 Neighboring gene STARR-positive B cell enhancer mm9_chr15:73476060-73476361 Neighboring gene STARR-seq mESC enhancer starr_38967 Neighboring gene STARR-seq mESC enhancer starr_38972 Neighboring gene G protein-coupled receptor 20

    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. DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway. Li Y, et al. Hepatol Int, 2023 Jun. PMID 36729283
    2. Dennd3 functions as a guanine nucleotide exchange factor for small GTPase Rab12 in mouse embryonic fibroblasts. Matsui T, et al. J Biol Chem, 2014 May 16. PMID 24719330, Free PMC Article
    3. Small GTPase Rab12 regulates constitutive degradation of transferrin receptor. Matsui T, et al. Traffic, 2011 Oct. PMID 21718402
    4. Methyltransferase-like 21e inhibits 26S proteasome activity to facilitate hypertrophy of type IIb myofibers. Wang C, et al. FASEB J, 2019 Aug. PMID 31162944, Free PMC Article
    5. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.
      Title: DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.
    2. Dennd3 not only functions as a Rab12-GEF but also modulates Akt signaling in mouse embryonic fibroblast cells
      Title: Dennd3 functions as a guanine nucleotide exchange factor for small GTPase Rab12 in mouse embryonic fibroblasts.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in endosome to lysosome transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Rab protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DENN domain-containing protein 3
    Names
    DENN/MADD domain containing 3

    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_001081066.2 → NP_001074535.1  DENN domain-containing protein 3

      See identical proteins and their annotated locations for NP_001074535.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein coding transcript.
      Source sequence(s)
      AC119914, AC132863
      Consensus CDS
      CCDS37100.1
      UniProtKB/Swiss-Prot
      A2RT67, B2RQ75, Q69ZX2, Q8C6V5
      UniProtKB/TrEMBL
      G3UYA1
      Related
      ENSMUSP00000046774.6, ENSMUST00000043414.12
      Conserved Domains (6) summary
      smart00801
      Location:437 → 499
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      COG2319
      Location:999 → 1274
      WD40; WD40 repeat [General function prediction only]
      pfam02141
      Location:187 → 373
      DENN; DENN (AEX-3) domain
      pfam14351
      Location:615 → 645
      DUF4401; Domain of unknown function (DUF4401)
      sd00039
      Location:1030 → 1065
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:1021 → 1274
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. NR_152151.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC119914, AC132863
      Related
      ENSMUST00000173292.8

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      73384333..73444091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520252.1 → XP_006520315.1  DENN domain-containing protein 3 isoform X1

      Conserved Domains (5) summary
      smart00801
      Location:187 → 249
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      COG2319
      Location:749 → 1024
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:780 → 815
      7WD40; WD40 repeat [structural motif]
      pfam02141
      Location:7 → 123
      DENN; DENN (AEX-3) domain
      pfam14351
      Location:365 → 395
      DUF4401; Domain of unknown function (DUF4401)

    RNA

    1. XR_004938782.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2RT67.2 GenPept UniProtKB/Swiss-Prot:A2RT67

    Gene LinkOut

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

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