Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DENND1A Gene

Aliases for DENND1A Gene

  • DENN Domain Containing 1A 2 3 5
  • Connecdenn 1 2 3 4
  • KIAA1608 2 3 4
  • DENN/MADD Domain Containing 1A 2 3
  • FAM31A 3 4
  • DENN Domain-Containing Protein 1A 3
  • Protein FAM31A 4
  • Connecdenn 4

External Ids for DENND1A Gene

Previous HGNC Symbols for DENND1A Gene

  • KIAA1608

Previous GeneCards Identifiers for DENND1A Gene

  • GC09M123222
  • GC09M125181
  • GC09M126141
  • GC09M095756

Summaries for DENND1A Gene

Entrez Gene Summary for DENND1A Gene

  • Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

GeneCards Summary for DENND1A Gene

DENND1A (DENN Domain Containing 1A) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND1B.

UniProtKB/Swiss-Prot for DENND1A Gene

  • Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes (PubMed:20154091, PubMed:20937701). Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity).

Gene Wiki entry for DENND1A Gene

Additional gene information for DENND1A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DENND1A Gene

Genomics for DENND1A Gene

GeneHancer (GH) Regulatory Elements for DENND1A Gene

Promoters and enhancers for DENND1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I123924 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 557.7 +2.3 2264 6.5 HDGF PKNOX1 CLOCK SIN3A DMAP1 IRF4 YY1 SLC30A9 ZNF766 ZNF143 DENND1A GC09P123844
GH09I123931 Enhancer 0.7 ENCODE 556.3 -1.6 -1625 0.2 HDGF KLF1 ZSCAN18 MAZ ZSCAN4 ZNF266 ZNF398 ZNF843 RFX5 ZFHX2 DENND1A LOC105376267
GH09I123355 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 12.1 +571.6 571632 6.2 HDGF ATF1 FOXA2 MLX ZFP64 ARID4B SIN3A ZNF48 TCF12 GLIS2 CRB2 STRBP MIR601 DENND1A MIR600HG MIR600 GC09P123401
GH09I123364 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 12.1 +565.6 565613 0.7 TFAP4 MAZ BHLHE40 DACH1 ZNF398 HIC1 ZFHX2 ZNF157 FOS EGR2 MIR601 DENND1A MIR600 MIR600HG STRBP CRB2 GC09P123401
GH09I123375 Enhancer 1 ENCODE dbSUPER 12.4 +554.0 554040 1.3 KLF1 ZBTB6 SAP130 KLF17 MZF1 FEZF1 ZIC2 ZNF335 PATZ1 VEZF1 CRB2 MIR601 DENND1A STRBP GC09P123401
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DENND1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DENND1A gene promoter:

Genomic Locations for DENND1A Gene

Genomic Locations for DENND1A Gene
chr9:123,379,654-123,930,152
(GRCh38/hg38)
Size:
550,499 bases
Orientation:
Minus strand
chr9:126,141,933-126,692,431
(GRCh37/hg19)

Genomic View for DENND1A Gene

Genes around DENND1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DENND1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DENND1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND1A Gene

Proteins for DENND1A Gene

  • Protein details for DENND1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TEH3-DEN1A_HUMAN
    Recommended name:
    DENN domain-containing protein 1A
    Protein Accession:
    Q8TEH3
    Secondary Accessions:
    • A8MZA3
    • B1AM80
    • B7Z3C8
    • B7Z669
    • D3PFD3
    • Q05C88
    • Q5VWF0
    • Q6PJZ5
    • Q8IVD6
    • Q9H796

    Protein attributes for DENND1A Gene

    Size:
    1009 amino acids
    Molecular mass:
    110577 Da
    Quaternary structure:
    • Interacts with RAB35 (PubMed:20154091). Interacts with clathrin and with the adapter protein complex 2, AP-2 (PubMed:20154091, PubMed:20937701). Interacts with ITSN1 AND SH3GL2 (By similarity). Interacts (when phosphorylated) with YWHAE (PubMed:26055712).
    SequenceCaution:
    • Sequence=AAH09616.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH28061.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAH13155.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DENND1A Gene

neXtProt entry for DENND1A Gene

Post-translational modifications for DENND1A Gene

  • Phosphorylated on serine and/or threonine in an Akt-dependent manner. Phosphorylation probably regulates the guanine nucleotide exchange factor (GEF) activity, possibly by disrupting an intramolecular interaction between the DENN domain and the C-terminus of the protein, thereby relieving the autoinhibition.

No data available for DME Specific Peptides for DENND1A Gene

Domains & Families for DENND1A Gene

Gene Families for DENND1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DENND1A Gene

Suggested Antigen Peptide Sequences for DENND1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DENND1A: view

No data available for UniProtKB/Swiss-Prot for DENND1A Gene

Function for DENND1A Gene

Molecular function for DENND1A Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
The guanine nucleotide exchange factor (GEF) activity is autoinhibited. Autoinhibition may be the result of intramolecular interaction between the DENN domain and the C-terminus, which is disrupted upon phosphorylation. Activation is regulated by Akt activation.
UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes (PubMed:20154091, PubMed:20937701). Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity).

Phenotypes From GWAS Catalog for DENND1A Gene

Gene Ontology (GO) - Molecular Function for DENND1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
GO:0017112 Rab guanyl-nucleotide exchange factor activity TAS --
GO:0017124 SH3 domain binding IEA --
GO:0017137 Rab GTPase binding IEA --
GO:0032266 phosphatidylinositol-3-phosphate binding ISS --
genes like me logo Genes that share ontologies with DENND1A: view

Phenotypes for DENND1A Gene

GenomeRNAi human phenotypes for DENND1A:
genes like me logo Genes that share phenotypes with DENND1A: view

Animal Model Products

CRISPR Products

miRNA for DENND1A Gene

miRTarBase miRNAs that target DENND1A

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DENND1A Gene

Localization for DENND1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DENND1A Gene

Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein. Cell junction, synapse, presynaptic cell membrane. Note=Associates to membranes via lipid-binding activity. {ECO:0000250 UniProtKB:Q8K382}.

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 DENND1A gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
endosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DENND1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS,IDA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with DENND1A: view

Pathways & Interactions for DENND1A Gene

genes like me logo Genes that share pathways with DENND1A: view

Pathways by source for DENND1A Gene

Gene Ontology (GO) - Biological Process for DENND1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006897 endocytosis IMP 20937701
GO:0015031 protein transport IEA --
GO:0032456 endocytic recycling ISS --
GO:0032483 regulation of Rab protein signal transduction IDA 20937701
genes like me logo Genes that share ontologies with DENND1A: view

No data available for SIGNOR curated interactions for DENND1A Gene

Drugs & Compounds for DENND1A Gene

No Compound Related Data Available

Transcripts for DENND1A Gene

mRNA/cDNA for DENND1A Gene

(23) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DENND1A Gene

DENN/MADD domain containing 1A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DENND1A Gene

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

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

Relevant External Links for DENND1A Gene

GeneLoc Exon Structure for
DENND1A
ECgene alternative splicing isoforms for
DENND1A

Expression for DENND1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DENND1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DENND1A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.1) and Plasma (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DENND1A Gene



Protein tissue co-expression partners for DENND1A Gene

NURSA nuclear receptor signaling pathways regulating expression of DENND1A Gene:

DENND1A

SOURCE GeneReport for Unigene cluster for DENND1A Gene:

Hs.744995

Evidence on tissue expression from TISSUES for DENND1A Gene

  • Nervous system(4.4)
  • Liver(4.2)
  • Muscle(4.2)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with DENND1A: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DENND1A Gene

Orthologs for DENND1A Gene

This gene was present in the common ancestor of animals.

Orthologs for DENND1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DENND1A 33 34
  • 99.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia DENND1A 33 34
  • 89.39 (n)
dog
(Canis familiaris)
Mammalia DENND1A 33 34
  • 89 (n)
mouse
(Mus musculus)
Mammalia Dennd1a 33 16 34
  • 86.49 (n)
rat
(Rattus norvegicus)
Mammalia Dennd1a 33
  • 85.62 (n)
oppossum
(Monodelphis domestica)
Mammalia DENND1A 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves DENND1A 33 34
  • 70.01 (n)
lizard
(Anolis carolinensis)
Reptilia DENND1A 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd1a 33
  • 63.74 (n)
zebrafish
(Danio rerio)
Actinopterygii dennd1a 33 34
  • 61.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG18659 34
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rme-4 34
  • 29 (a)
OneToMany
Species where no ortholog for DENND1A 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 DENND1A Gene

ENSEMBL:
Gene Tree for DENND1A (if available)
TreeFam:
Gene Tree for DENND1A (if available)

Paralogs for DENND1A Gene

(3) SIMAP similar genes for DENND1A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DENND1A: view

Variants for DENND1A Gene

Sequence variations from dbSNP and Humsavar for DENND1A Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000010232 -- 123,389,346(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000023983 -- 123,812,764(-) A/ intron_variant
rs1000026697 -- 123,722,334(-) T/C intron_variant
rs1000035749 -- 123,675,495(-) G/A intron_variant
rs1000040471 -- 123,402,956(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DENND1A Gene

Variant ID Type Subtype PubMed ID
esv2678742 CNV deletion 23128226
esv2672516 CNV deletion 23128226
esv2670403 CNV deletion 23128226
esv2668211 CNV deletion 23128226
esv2659343 CNV deletion 23128226
esv2657034 CNV deletion 23128226
esv2592095 CNV deletion 19546169
esv24500 CNV loss 19812545
esv23766 CNV loss 19812545
esv23680 CNV loss 19812545
esv2007710 CNV deletion 18987734
esv1395376 CNV insertion 17803354
esv1000891 CNV deletion 20482838
dgv1264e201 CNV deletion 23290073
nsv831718 CNV loss 17160897
nsv6708 CNV insertion 18451855
nsv615285 CNV loss 21841781
nsv521578 CNV loss 19592680
nsv518647 CNV loss 19592680
nsv512116 CNV loss 21212237
nsv474257 CNV novel sequence insertion 20440878
nsv1152727 CNV duplication 26484159
nsv1137503 CNV deletion 24896259
nsv1126920 CNV deletion 24896259
nsv1119317 CNV duplication 24896259
esv989009 CNV loss 20482838
esv3621704 CNV loss 21293372
esv3621703 CNV gain 21293372
esv3621702 CNV loss 21293372
esv3621701 CNV loss 21293372
esv3621700 CNV loss 21293372
esv3621699 CNV loss 21293372
esv3621698 CNV loss 21293372
esv3621697 CNV loss 21293372
esv3621695 CNV loss 21293372
esv3621694 CNV gain 21293372
esv3621693 CNV loss 21293372
esv3621692 CNV loss 21293372
esv3573381 CNV loss 25503493
esv3573380 CNV loss 25503493
esv3545436 CNV deletion 23714750
esv3545431 CNV deletion 23714750
esv3393341 CNV insertion 20981092
esv3378568 CNV insertion 20981092
esv3376472 CNV insertion 20981092
esv3366001 CNV insertion 20981092
esv3310439 CNV novel sequence insertion 20981092
esv2739032 CNV deletion 23290073
esv2739031 CNV deletion 23290073
esv2739030 CNV deletion 23290073
esv2739027 CNV deletion 23290073
esv2739026 CNV deletion 23290073
esv2739025 CNV deletion 23290073
esv2739024 CNV deletion 23290073
esv2739022 CNV deletion 23290073
esv2739020 CNV deletion 23290073
esv2739019 CNV deletion 23290073

Variation tolerance for DENND1A Gene

Residual Variation Intolerance Score: 4.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.23; 52.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DENND1A Gene

Human Gene Mutation Database (HGMD)
DENND1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND1A Gene

Disorders for DENND1A Gene

UniProtKB/Swiss-Prot

DEN1A_HUMAN
  • Note=Genetic variants in DENND1A may play a role in susceptibility to polycystic ovary syndrome (PCOS), the most common endocrine disease among premenopausal women. PCOS is a complex disorder characterized by infertility, hirsutism, obesity, various menstrual disturbances, and enlarged ovaries studded with atretic follicles. {ECO:0000269 PubMed:22180642, ECO:0000269 PubMed:23208300, ECO:0000269 PubMed:24086769, ECO:0000269 PubMed:25626177}.

Additional Disease Information for DENND1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DENND1A Gene.

No data available for MalaCards and Genatlas for DENND1A Gene

Publications for DENND1A Gene

  1. Phosphorylation-dependent Regulation of Connecdenn/DENND1 Guanine Nucleotide Exchange Factors. (PMID: 26055712) Kulasekaran G … McPherson PS (The Journal of biological chemistry 2015) 3 4 58
  2. DENND1A gene variants in Bahraini Arab women with polycystic ovary syndrome. (PMID: 25626177) Gammoh E … Almawi WY (Gene 2015) 3 4 58
  3. Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS). (PMID: 24086769) Eriksen MB … Gaster M (PloS one 2013) 3 4 58
  4. Genotype-phenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women. (PMID: 23208300) Cui L … Chen ZJ (Human reproduction (Oxford, England) 2013) 3 4 58
  5. Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts. (PMID: 22180642) Goodarzi MO … Urbanek M (Journal of medical genetics 2012) 3 4 58

Products for DENND1A Gene

Sources for DENND1A Gene

Content
Loading form....