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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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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

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