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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. Diseases associated with DENND1A include Polycystic Ovary Syndrome. 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

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

Genomics for DENND1A Gene

Regulatory Elements for DENND1A Gene

Enhancers for DENND1A 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around DENND1A on UCSC Golden Path with GeneCards custom track

Promoters for DENND1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for DENND1A Gene

Chromosome:
9
Start:
123,379,654 bp from pter
End:
123,930,152 bp from pter
Size:
550,499 bases
Orientation:
Minus strand

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DENND1A Gene

No data available for DME Specific Peptides for DENND1A Gene

Domains & Families for DENND1A Gene

Gene Families for DENND1A Gene

Protein Domains for DENND1A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DENND1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TEH3

UniProtKB/Swiss-Prot:

DEN1A_HUMAN :
  • Contains 1 dDENN domain.
Domain:
  • Contains 1 dDENN domain.
  • Contains 1 DENN domain.
  • Contains 1 uDENN domain.
genes like me logo Genes that share domains with DENND1A: view

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).

Gene Ontology (GO) - Molecular Function for DENND1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
GO:0017124 SH3 domain binding IEA --
GO:0017137 Rab GTPase binding IEA --
GO:0032266 phosphatidylinositol-3-phosphate binding ISS --
GO:1901981 phosphatidylinositol 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

Flow Cytometry 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
Jensen Localization Image for DENND1A Gene COMPARTMENTS Subcellular localization image for DENND1A gene
Compartment Confidence
cytosol 3
nucleus 3
plasma membrane 3
endosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DENND1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0030054 cell junction IEA --
GO:0030136 clathrin-coated vesicle IDA 20937701
GO:0030425 dendrite IEA --
GO:0030665 clathrin-coated vesicle membrane ISS --
genes like me logo Genes that share ontologies with DENND1A: view

Pathways & Interactions for DENND1A Gene

SuperPathways for DENND1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for DENND1A Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with DENND1A: view

No data available for Pathways by source and SIGNOR curated interactions for DENND1A Gene

Drugs & Compounds for DENND1A Gene

No Compound Related Data Available

Transcripts for DENND1A Gene

Unigene Clusters for DENND1A Gene

DENN/MADD domain containing 1A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with DENND1A: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia DENND1A 34
  • 89.39 (n)
  • 90.62 (a)
DENND1A 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DENND1A 34
  • 89 (n)
  • 90.3 (a)
DENND1A 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dennd1a 34
  • 86.49 (n)
  • 89.2 (a)
Dennd1a 16
Dennd1a 35
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DENND1A 34
  • 99.5 (n)
  • 99.41 (a)
DENND1A 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dennd1a 34
  • 85.62 (n)
  • 87.55 (a)
oppossum
(Monodelphis domestica)
Mammalia DENND1A 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves DENND1A 34
  • 70.01 (n)
  • 72.01 (a)
DENND1A 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DENND1A 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd1a 34
  • 63.74 (n)
  • 66.12 (a)
zebrafish
(Danio rerio)
Actinopterygii dennd1a 34
  • 61.52 (n)
  • 62.49 (a)
dennd1a 35
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18659 35
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rme-4 35
  • 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 Sequence Context AA Info Type
rs1508 -- 123,870,820(-) CTTAT(A/G)TTTGA intron-variant
rs7852243 -- 123,655,061(+) TTACT(C/T)CTGCT intron-variant
rs7852296 -- 123,589,939(+) AACTG(A/G)CTTGA intron-variant
rs7852921 -- 123,584,423(+) CTCAC(A/G)TGCCT intron-variant
rs7853004 -- 123,607,490(+) AGAGA(C/G)ACACA intron-variant

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

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

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)

Relevant External Links 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

MalaCards: The human disease database

(1) MalaCards diseases for DENND1A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
polycystic ovary syndrome
  • multicystic ovaries
- elite association - COSMIC cancer census association via MalaCards

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}.

Relevant External Links for DENND1A

Genetic Association Database (GAD)
DENND1A
Human Genome Epidemiology (HuGE) Navigator
DENND1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DENND1A
genes like me logo Genes that share disorders with DENND1A: view

No data available for Genatlas for DENND1A Gene

Publications for DENND1A Gene

  1. DENND1A gene variants in Bahraini Arab women with polycystic ovary syndrome. (PMID: 25626177) Gammoh E. … Almawi W.Y. (Gene 2015) 3 4 65
  2. Phosphorylation-dependent Regulation of Connecdenn/DENND1 Guanine Nucleotide Exchange Factors. (PMID: 26055712) Kulasekaran G. … McPherson P.S. (J. Biol. Chem. 2015) 3 4 65
  3. Genotype-phenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women. (PMID: 23208300) Cui L. … Chen Z.J. (Hum. Reprod. 2013) 3 4 65
  4. Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS). (PMID: 24086769) Eriksen M.B. … Gaster M. (PLoS ONE 2013) 3 4 65
  5. Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts. (PMID: 22180642) Goodarzi M.O. … Urbanek M. (J. Med. Genet. 2012) 3 4 65

Products for DENND1A Gene

Sources for DENND1A Gene

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