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Aliases for DENND1A Gene

Aliases for DENND1A Gene

  • DENN/MADD Domain Containing 1A 2 3
  • KIAA1608 2 3 4 6
  • Connecdenn 1 2 3 4
  • 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/MADD Domain Containing 1A) is a Protein Coding gene. GO annotations related to this gene include SH3 domain binding and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND2C.

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.

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

Genomic Location for DENND1A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 ITSN1 AND SH3GL2 (By similarity). Interacts with RAB35. Interacts with clathrin and with the adapter protein complex 2, AP-2.
    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

Proteomics data for DENND1A Gene at MOPED

Post-translational modifications for DENND1A Gene

  • 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 for DENND1A Gene

Gene Families for DENND1A Gene

HGNC:
  • DENND :DENN/MADD domain containing

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 :
  • Q8TEH3
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 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.

Gene Ontology (GO) - Molecular Function for DENND1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with DENND1A: view

miRNA for DENND1A Gene

miRTarBase miRNAs that target DENND1A

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DENND1A Gene COMPARTMENTS Subcellular localization image for DENND1A gene
Compartment Confidence
plasma membrane 3
cytosol 2
endosome 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for DENND1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
GO:0030054 cell junction IEA --
GO:0030136 clathrin-coated vesicle IDA 20937701
GO:0030425 dendrite IEA --
GO:0030665 clathrin-coated vesicle membrane IEA --
genes like me logo Genes that share ontologies with DENND1A: view

Pathways for DENND1A Gene

SuperPathways for DENND1A Gene

No Data Available

Interacting Proteins for DENND1A Gene

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:0032483 regulation of Rab protein signal transduction IDA 20937701
GO:0043547 positive regulation of GTPase activity IEA --
GO:0048488 synaptic vesicle endocytosis IEA --
genes like me logo Genes that share ontologies with DENND1A: view

No data available for Pathways by source for DENND1A Gene

Transcripts for DENND1A Gene

Unigene Clusters for DENND1A Gene

DENN/MADD domain containing 1A:
Representative Sequences:

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DENND1A Gene

SOURCE GeneReport for Unigene cluster for DENND1A Gene Hs.744995

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

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
chimpanzee
(Pan troglodytes)
Mammalia DENND1A 35
  • 99.5 (n)
  • 99.41 (a)
DENND1A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DENND1A 35
  • 89.39 (n)
  • 90.62 (a)
DENND1A 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DENND1A 35
  • 89 (n)
  • 90.3 (a)
DENND1A 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dennd1a 35
  • 86.49 (n)
  • 89.2 (a)
Dennd1a 16
Dennd1a 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DENND1A 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 93 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dennd1a 35
  • 85.62 (n)
  • 87.55 (a)
chicken
(Gallus gallus)
Aves DENND1A 35
  • 70.01 (n)
  • 72.01 (a)
DENND1A 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DENND1A 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd1a 35
  • 63.74 (n)
  • 66.12 (a)
zebrafish
(Danio rerio)
Actinopterygii dennd1a 35
  • 61.52 (n)
  • 62.49 (a)
dennd1a 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18659 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rme-4 36
  • 29 (a)
OneToMany
Species with no ortholog for DENND1A:
  • 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

Selected 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 MAF
rs1508 -- 123,870,820(-) CTTAT(A/G)TTTGA intron-variant
rs471956 -- 123,818,811(+) TCAAA(C/T)TTTTA intron-variant
rs516467 -- 123,828,044(-) TTTCT(A/G)TTGCT intron-variant
rs541160 -- 123,828,408(+) CTAGG(C/T)CTAAC intron-variant
rs543070 -- 123,834,268(+) GAATC(A/G)TAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv518647 CNV Loss 19592680
nsv893827 CNV Gain 21882294
esv2739019 CNV Deletion 23290073
esv2739020 CNV Deletion 23290073
dgv1322e201 CNV Deletion 23290073
esv2739022 CNV Deletion 23290073
nsv512116 CNV Loss 21212237
esv23766 CNV Loss 19812545
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
esv2670403 CNV Deletion 23128226
esv2657034 CNV Deletion 23128226
nsv521578 CNV Loss 19592680
esv271079 CNV Insertion 20981092
esv274634 CNV Insertion 20981092
esv1000891 CNV Deletion 20482838
nsv893828 CNV Loss 21882294
esv23680 CNV Loss 19812545
nsv831718 CNV Loss 17160897
esv1395376 CNV Insertion 17803354
esv2659343 CNV Deletion 23128226
nsv6708 CNV Insertion 18451855
esv2592095 CNV Deletion 19546169
esv2007710 CNV Deletion 18987734
esv2678742 CNV Deletion 23128226
esv24500 CNV Loss 19812545
esv2668211 CNV Deletion 23128226
esv2672516 CNV Deletion 23128226
esv989009 CNV Loss 20482838

Relevant External Links for DENND1A Gene

HapMap Linkage Disequilibrium report
DENND1A
Human Gene Mutation Database (HGMD)
DENND1A

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

Disorders for DENND1A Gene

(1) University of Copenhagen DISEASES for DENND1A Gene

Relevant External Links for DENND1A

Genetic Association Database (GAD)
DENND1A
Human Genome Epidemiology (HuGE) Navigator
DENND1A
genes like me logo Genes that share disorders with DENND1A: view

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

Publications for DENND1A Gene

  1. The connecdenn family, Rab35 guanine nucleotide exchange factors interfacing with the clathrin machinery. (PMID: 20154091) Marat A.L. … McPherson P.S. (J. Biol. Chem. 2010) 3 4
  2. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PMID: 20583170) Letra A. … Vieira A.R. (Am. J. Med. Genet. A 2010) 3 48
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  4. A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality. (PMID: 20691247) Verweij K.J. … Wray N.R. (Biol Psychol 2010) 3 48
  5. 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

Products for DENND1A Gene

Sources for DENND1A Gene

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