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

Gene ID: 105841, updated on 27-Nov-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 endosome to lysosome transport and protein catabolic process. 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, Nov 2024]
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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See Dennd3 in Genome Data Viewer
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 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
  2. 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
  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)
  • Endonuclease-mediated (2) 
  • Targeted (1) 

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

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