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Aliases for DENND5A Gene

Aliases for DENND5A Gene

  • DENN Domain Containing 5A 2 3 5
  • DENN/MADD Domain Containing 5A 2 3
  • RAB6 Interacting Protein 1 2 3
  • Rab6-Interacting Protein 1 3 4
  • RAB6IP1 3 4
  • DENN Domain-Containing Protein 5A 3
  • KIAA1091 4
  • EIEE49 3

External Ids for DENND5A Gene

Previous HGNC Symbols for DENND5A Gene

  • RAB6IP1

Previous GeneCards Identifiers for DENND5A Gene

  • GC11M009117
  • GC11M008832

Summaries for DENND5A Gene

Entrez Gene Summary for DENND5A Gene

  • This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]

GeneCards Summary for DENND5A Gene

DENND5A (DENN Domain Containing 5A) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include Rab GTPase binding and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND5B.

UniProtKB/Swiss-Prot for DENND5A Gene

  • Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DENND5A Gene

Genomics for DENND5A Gene

Regulatory Elements for DENND5A Gene

Enhancers for DENND5A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G009361 1.9 FANTOM5 Ensembl ENCODE 31.5 -98.1 -98126 4.9 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC SSRP1 DENND5A NRIP3 SNORA3B ZNF143 RPL21P97 RPL27A IPO7 TMEM41B TMEM9B SWAP70
GH11G009273 1.3 FANTOM5 Ensembl ENCODE 36 -8.5 -8511 1.4 PKNOX1 CEBPG ZNF366 ATF3 SCRT2 ZNF512 PBX2 PRDM1 DENND5A NRIP3 TMEM41B SCUBE2 ZNF143 IPO7 TMEM9B TRL-CAA5-1
GH11G009158 1.3 FANTOM5 Ensembl ENCODE 32.3 +105.4 105357 2.2 BCOR SMARCA5 JUN ZMYM3 CEBPB NFXL1 CEBPG FOSL1 JUND ATF3 DENND5A NRIP3 SCUBE2 TMEM41B ZNF143 IPO7 TMEM9B RPL27A GC11M009222
GH11G009208 1.4 Ensembl ENCODE dbSUPER 18.1 +55.1 55140 4.2 HDGF PKNOX1 TBL1XR1 BMI1 YY1 GTF3C2 ZNF121 RELB ETV6 IKZF2 DENND5A SCUBE2 SNORA3B IPO7 TMEM41B RPL27A GC11M009222
GH11G009230 1.2 Ensembl ENCODE dbSUPER 18.4 +33.7 33698 1.8 ZNF140 ZNF384 CHD7 ZBTB40 ZNF7 YY1 PBX2 ZNF512 POU5F1 ZNF600 DENND5A SCUBE2 GC11M009224 ENSG00000255097
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DENND5A on UCSC Golden Path with GeneCards custom track

Promoters for DENND5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000036575 690 2601 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 FOS KLF13

Genomic Location for DENND5A Gene

Chromosome:
11
Start:
9,138,825 bp from pter
End:
9,265,390 bp from pter
Size:
126,566 bases
Orientation:
Minus strand

Genomic View for DENND5A Gene

Genes around DENND5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DENND5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DENND5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND5A Gene

Proteins for DENND5A Gene

  • Protein details for DENND5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IQ26-DEN5A_HUMAN
    Recommended name:
    DENN domain-containing protein 5A
    Protein Accession:
    Q6IQ26
    Secondary Accessions:
    • B4DJ15
    • E9PS91
    • Q96GN3
    • Q9H6U7
    • Q9UFV0
    • Q9UPR1

    Protein attributes for DENND5A Gene

    Size:
    1287 amino acids
    Molecular mass:
    147096 Da
    Quaternary structure:
    • Probably interacts with RAB6A bound to GTP.
    SequenceCaution:
    • Sequence=BAA83043.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15155.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DENND5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DENND5A Gene

Post-translational modifications for DENND5A Gene

  • Glycosylation at isoforms=2479
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DENND5A Gene

Domains & Families for DENND5A Gene

Gene Families for DENND5A Gene

Protein Domains for DENND5A Gene

Graphical View of Domain Structure for InterPro Entry

Q6IQ26

UniProtKB/Swiss-Prot:

DEN5A_HUMAN :
  • Belongs to the RAB6IP1 family.
Family:
  • Belongs to the RAB6IP1 family.
genes like me logo Genes that share domains with DENND5A: view

Function for DENND5A Gene

Molecular function for DENND5A Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

Gene Ontology (GO) - Molecular Function for DENND5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IBA --
GO:0017112 Rab guanyl-nucleotide exchange factor activity TAS --
GO:0017137 Rab GTPase binding IEA --
genes like me logo Genes that share ontologies with DENND5A: view
genes like me logo Genes that share phenotypes with DENND5A: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DENND5A

CRISPR Products

miRNA for DENND5A Gene

miRTarBase miRNAs that target DENND5A

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DENND5A Gene

Localization for DENND5A Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DENND5A gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for DENND5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 19619496
GO:0005829 cytosol TAS --
GO:0030904 colocalizes_with retromer complex IDA 19619496
genes like me logo Genes that share ontologies with DENND5A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DENND5A Gene

Pathways & Interactions for DENND5A Gene

genes like me logo Genes that share pathways with DENND5A: view

Pathways by source for DENND5A Gene

Gene Ontology (GO) - Biological Process for DENND5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010977 negative regulation of neuron projection development ISS --
GO:0042147 retrograde transport, endosome to Golgi IMP 19619496
GO:0043547 positive regulation of GTPase activity IEA --
GO:0050982 detection of mechanical stimulus IBA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with DENND5A: view

No data available for SIGNOR curated interactions for DENND5A Gene

Drugs & Compounds for DENND5A Gene

(1) Drugs for DENND5A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DENND5A: view

Transcripts for DENND5A Gene

Unigene Clusters for DENND5A Gene

DENN/MADD domain containing 5A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DENND5A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ^
SP1: - - -
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: - - - - - -
SP10: -

ExUns: 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c · 27d · 27e
SP1: - -
SP2: - - - - - - -
SP3: - -
SP4: - - - - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for DENND5A Gene

GeneLoc Exon Structure for
DENND5A
ECgene alternative splicing isoforms for
DENND5A

Expression for DENND5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DENND5A Gene

Protein differential expression in normal tissues from HIPED for DENND5A Gene

This gene is overexpressed in Islet of Langerhans (18.9), Ovary (17.1), Platelet (13.2), and Adrenal (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DENND5A Gene



NURSA nuclear receptor signaling pathways regulating expression of DENND5A Gene:

DENND5A

SOURCE GeneReport for Unigene cluster for DENND5A Gene:

Hs.501857

Evidence on tissue expression from TISSUES for DENND5A Gene

  • Nervous system(4.9)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with DENND5A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DENND5A Gene

Orthologs for DENND5A Gene

This gene was present in the common ancestor of animals.

Orthologs for DENND5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DENND5A 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia DENND5A 34 35
  • 94.25 (n)
oppossum
(Monodelphis domestica)
Mammalia DENND5A 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DENND5A 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DENND5A 34 35
  • 92.96 (n)
mouse
(Mus musculus)
Mammalia Dennd5a 34 16 35
  • 90.99 (n)
rat
(Rattus norvegicus)
Mammalia Dennd5a 34
  • 90.7 (n)
chicken
(Gallus gallus)
Aves DENND5A 34 35
  • 80.55 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 91 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd5a 34
  • 77.02 (n)
zebrafish
(Danio rerio)
Actinopterygii dennd5a 34 35
  • 75.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7852 35
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C52E12.4 34
  • 48.05 (n)
lst-6 35
  • 33 (a)
OneToMany
Species where no ortholog for DENND5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DENND5A Gene

ENSEMBL:
Gene Tree for DENND5A (if available)
TreeFam:
Gene Tree for DENND5A (if available)

Paralogs for DENND5A Gene

genes like me logo Genes that share paralogs with DENND5A: view

Variants for DENND5A Gene

Sequence variations from dbSNP and Humsavar for DENND5A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1057519307 Pathogenic 9,204,091(-) ACAGA(-/GA)CCAGA nc-transcript-variant, reference, frameshift-variant
rs1057519308 Pathogenic 9,150,739(-) CGTAG(-/G)AAGTC nc-transcript-variant, reference, frameshift-variant
rs1057519309 Pathogenic 9,178,907(-) CCAGG(A/G)TAAGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1057519310 Pathogenic 9,139,724(-) CATTG(-/C)AGGAG nc-transcript-variant, reference, utr-variant-3-prime, frameshift-variant
rs1057519563 Likely pathogenic 9,160,835(-) TGGGC(C/T)GAGAA nc-transcript-variant, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for DENND5A Gene

Variant ID Type Subtype PubMed ID
esv33264 CNV loss 17666407
esv3625327 CNV loss 21293372
nsv1055078 CNV gain 25217958
nsv1144533 CNV deletion 24896259
nsv499766 OTHER inversion 21111241
nsv515891 CNV gain 19592680
nsv526778 CNV loss 19592680
nsv7215 OTHER inversion 18451855

Variation tolerance for DENND5A Gene

Residual Variation Intolerance Score: 1.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.28; 90.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DENND5A Gene

Human Gene Mutation Database (HGMD)
DENND5A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND5A Gene

Disorders for DENND5A Gene

Relevant External Links for DENND5A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DENND5A

No disorders were found for DENND5A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DENND5A Gene

Publications for DENND5A Gene

  1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 2 3 4 64
  2. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S. … Barr F.A. (J. Cell Biol. 2010) 3 4 64
  3. The retromer coat complex coordinates endosomal sorting and dynein-mediated transport, with carrier recognition by the trans-Golgi network. (PMID: 19619496) Wassmer T. … Cullen P.J. (Dev. Cell 2009) 3 22 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for DENND5A Gene

Sources for DENND5A Gene

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