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    Dennd5a DENN domain containing 5A [ Mus musculus (house mouse) ]

    Gene ID: 19347, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Dennd5aprovided by MGI
    Official Full Name
    DENN domain containing 5Aprovided by MGI
    Primary source
    MGI:MGI:1201681
    See related
    Ensembl:ENSMUSG00000035901 AllianceGenome:MGI:1201681
    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
    ORF37; Rab6ip1; mKIAA1091; 1500012B19Rik
    Summary
    Enables small GTPase binding activity. Predicted to be involved in negative regulation of neuron projection development and retrograde transport, endosome to Golgi. Located in Golgi apparatus. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 49. Orthologous to human DENND5A (DENN domain containing 5A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 51.7), frontal lobe adult (RPKM 39.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dennd5a in Genome Data Viewer
    Location:
    7 E3; 7 57.62 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (109492987..109559677, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (109893780..109960470, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene nuclear receptor interacting protein 3 Neighboring gene predicted gene, 22822 Neighboring gene signal peptide, CUB domain, EGF-like 2 Neighboring gene STARR-seq mESC enhancer starr_19808 Neighboring gene STARR-seq mESC enhancer starr_19809 Neighboring gene STARR-seq mESC enhancer starr_19810 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:117129931-117130114 Neighboring gene transmembrane protein 41B Neighboring gene RIKEN cDNA 1600010M07 gene Neighboring gene STARR-seq mESC enhancer starr_19812 Neighboring gene predicted gene, 23100

    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. Inhibition of telomerase activity by reduction of poly(ADP-ribosyl)ation of TERT and TEP1/TP1 expression in HeLa cells with knocked down poly(ADP-ribose) polymerase-1 (PARP-1) gene. Ghosh U, et al. Mutat Res, 2007 Feb 3. PMID 17141279
    2. Crystallization of an engineered RUN domain of Rab6-interacting protein 1/DENND5. Fernandes H, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2011 May 1. PMID 21543860, Free PMC Article
    3. Rab6-interacting protein 1 links Rab6 and Rab11 function. Miserey-Lenkei S, et al. Traffic, 2007 Oct. PMID 17725553
    4. Common sequence and structural features in the heat-shock factor and Ets families of DNA-binding domains. Landsman D, et al. Trends Biochem Sci, 1995 Jun. PMID 7631419
    5. Structural basis for recruitment of Rab6-interacting protein 1 to Golgi via a RUN domain. Recacha R, et al. Structure, 2009 Jan 14. PMID 19141279

    See all (23) 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)
    • Targeted (1) 

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of retromer complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DENN domain-containing protein 5A
    Names
    DENN/MADD domain containing 5A
    Rab6 interacting protein 1
    rab6-interacting protein 1

    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_001311139.1 → NP_001298068.1  DENN domain-containing protein 5A isoform 2

      See identical proteins and their annotated locations for NP_001298068.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AC140235, BC060230
      Consensus CDS
      CCDS80781.1
      UniProtKB/TrEMBL
      A0A0R4J1B6
      Related
      ENSMUSP00000102333.2, ENSMUST00000106722.2
      Conserved Domains (6) summary
      smart00801
      Location:489 → 564
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00593
      Location:860 → 923
      RUN; domain involved in Ras-like GTPase signaling
      smart00800
      Location:12 → 114
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01757
      Location:930 → 1038
      PLAT_RAB6IP1; PLAT/LH2 domain present in RAB6 interacting protein 1 (Rab6IP1)_like family. PLAT/LH2 domains consists of an eight stranded beta-barrel. In RabIP1 this domain may participate in lipid-mediated modulation of Rab6IP1's function via it's generally proposed ...
      pfam02141
      Location:178 → 366
      DENN; DENN (AEX-3) domain
      cl02689
      Location:1119 → 1257
      RUN; RUN domain

    2. NM_021494.1 → NP_067469.1  DENN domain-containing protein 5A isoform 1

      See identical proteins and their annotated locations for NP_067469.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC060230
      Consensus CDS
      CCDS21741.1
      UniProtKB/Swiss-Prot
      Q62146, Q6PAL8, Q8C829, Q8VDF6, Q9QYZ2
      Related
      ENSMUSP00000079295.7, ENSMUST00000080437.13
      Conserved Domains (6) summary
      smart00801
      Location:513 → 588
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00593
      Location:884 → 947
      RUN; domain involved in Ras-like GTPase signaling
      smart00800
      Location:12 → 138
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01757
      Location:954 → 1062
      PLAT_RAB6IP1; PLAT/LH2 domain present in RAB6 interacting protein 1 (Rab6IP1)_like family. PLAT/LH2 domains consists of an eight stranded beta-barrel. In RabIP1 this domain may participate in lipid-mediated modulation of Rab6IP1's function via it's generally proposed ...
      pfam02141
      Location:202 → 390
      DENN; DENN (AEX-3) domain
      cl02689
      Location:1143 → 1281
      RUN; RUN 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_000073.7 Reference GRCm39 C57BL/6J

      Range
      109492987..109559677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PAL8.1 GenPept UniProtKB/Swiss-Prot:Q6PAL8

    Gene LinkOut

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

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