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Aliases for DENND1B Gene

Aliases for DENND1B Gene

  • DENN/MADD Domain Containing 1B 2 3
  • Connecdenn 2 2 3 4
  • FAM31B 3 4 6
  • Family With Sequence Similarity 31, Member B 2 3
  • C1orf218 3 4
  • C1ORF18 3 6
  • Chromosome 1 Open Reading Frame 218 2
  • DENN Domain-Containing Protein 1B 3
  • Protein FAM31B 4

External Ids for DENND1B Gene

Previous HGNC Symbols for DENND1B Gene

  • FAM31B
  • C1orf218

Previous GeneCards Identifiers for DENND1B Gene

  • GC01M194253
  • GC01M195746
  • GC01M195788
  • GC01M168677

Summaries for DENND1B Gene

Entrez Gene Summary for DENND1B Gene

  • Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, 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 DENND1B Gene

DENND1B (DENN/MADD Domain Containing 1B) is a Protein Coding gene. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND2C.

UniProtKB/Swiss-Prot for DENND1B Gene

  • Guanine nucleotide exchange factor (GEF) for RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. May play a role in clathrin-mediated endocytosis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DENND1B Gene

Genomics for DENND1B Gene

Regulatory Elements for DENND1B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DENND1B Gene

Start:
197,504,748 bp from pter
End:
197,775,696 bp from pter
Size:
270,949 bases
Orientation:
Minus strand

Genomic View for DENND1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DENND1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND1B Gene

Proteins for DENND1B Gene

  • Protein details for DENND1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P3S1-DEN1B_HUMAN
    Recommended name:
    DENN domain-containing protein 1B
    Protein Accession:
    Q6P3S1
    Secondary Accessions:
    • B5MD89
    • D3PFD5
    • Q5T3B8
    • Q5T3B9
    • Q5T3C1
    • Q5TAI8
    • Q6B0I8
    • Q8NDT1
    • Q8TBE6
    • Q9H774
    • Q9NXU2

    Protein attributes for DENND1B Gene

    Size:
    426 amino acids
    Molecular mass:
    48260 Da
    Quaternary structure:
    • Interacts with RAB35. Interacts with clathrin heavy chain/CLTC and with AP2A2. Isoform 5 interacts with AP2B1.
    SequenceCaution:
    • Sequence=AAH74735.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA90918.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15024.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW91280.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DENND1B Gene

    Alternative splice isoforms for DENND1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DENND1B Gene

Proteomics data for DENND1B Gene at MOPED

Post-translational modifications for DENND1B Gene

No data available for DME Specific Peptides for DENND1B Gene

Domains for DENND1B Gene

Gene Families for DENND1B Gene

HGNC:
  • DENND :DENN/MADD domain containing

Protein Domains for DENND1B Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6P3S1

UniProtKB/Swiss-Prot:

DEN1B_HUMAN :
  • Q6P3S1
Domain:
  • Contains 1 dDENN domain.
  • Contains 1 DENN domain.
  • Contains 1 uDENN domain.
genes like me logo Genes that share domains with DENND1B: view

Function for DENND1B Gene

Molecular function for DENND1B Gene

UniProtKB/Swiss-Prot Function: Guanine nucleotide exchange factor (GEF) for RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. May play a role in clathrin-mediated endocytosis.

Gene Ontology (GO) - Molecular Function for DENND1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
genes like me logo Genes that share ontologies with DENND1B: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DENND1B

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DENND1B Gene

Localization for DENND1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DENND1B Gene

Cytoplasm, cytosol. Cytoplasmic vesicle, clathrin-coated vesicle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DENND1B Gene COMPARTMENTS Subcellular localization image for DENND1B gene
Compartment Confidence
cytosol 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DENND1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0030136 clathrin-coated vesicle IEA --
GO:0031410 cytoplasmic vesicle --
genes like me logo Genes that share ontologies with DENND1B: view

Pathways for DENND1B Gene

SuperPathways for DENND1B Gene

No Data Available

Interacting Proteins for DENND1B Gene

Gene Ontology (GO) - Biological Process for DENND1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with DENND1B: view

No data available for Pathways by source for DENND1B Gene

Transcripts for DENND1B Gene

Unigene Clusters for DENND1B Gene

DENN/MADD domain containing 1B:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DENND1B

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DENND1B

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DENND1B Gene

No ASD Table

Relevant External Links for DENND1B Gene

GeneLoc Exon Structure for
DENND1B
ECgene alternative splicing isoforms for
DENND1B

Expression for DENND1B Gene

mRNA expression in normal human tissues for DENND1B Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DENND1B Gene

SOURCE GeneReport for Unigene cluster for DENND1B Gene Hs.125056

mRNA Expression by UniProt/SwissProt for DENND1B Gene

Q6P3S1-DEN1B_HUMAN
Tissue specificity: Highly expressed in dendritic and natural killer cells and at lower levels in other myeloid lineage cells and in pituitary. Significantly up-regulated in effector memory T-cells as compared with naive T-cells.
genes like me logo Genes that share expressions with DENND1B: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DENND1B Gene

Orthologs for DENND1B Gene

This gene was present in the common ancestor of animals.

Orthologs for DENND1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DENND1B 35
  • 99.78 (n)
  • 99.61 (a)
DENND1B 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DENND1B 35
  • 80.8 (n)
  • 82.04 (a)
DENND1B 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DENND1B 35
  • 91.17 (n)
  • 92.3 (a)
DENND1B 36
  • 36 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dennd1b 35
  • 85.72 (n)
  • 86.21 (a)
Dennd1b 16
Dennd1b 36
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DENND1B 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DENND1B 36
  • 39 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dennd1b 35
  • 85.02 (n)
  • 86.01 (a)
chicken
(Gallus gallus)
Aves DENND1B 35
  • 75.66 (n)
  • 76.66 (a)
DENND1B 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DENND1B 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd1b 35
  • 70.27 (n)
  • 71.45 (a)
zebrafish
(Danio rerio)
Actinopterygii dennd1b 35
  • 61.01 (n)
  • 59.35 (a)
dennd1b 36
  • 36 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18659 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rme-4 36
  • 21 (a)
OneToMany
Species with no ortholog for DENND1B:
  • 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 DENND1B Gene

ENSEMBL:
Gene Tree for DENND1B (if available)
TreeFam:
Gene Tree for DENND1B (if available)

Paralogs for DENND1B Gene

Selected SIMAP similar genes for DENND1B Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with DENND1B: view

Variants for DENND1B Gene

Sequence variations from dbSNP and Humsavar for DENND1B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1969 -- 197,614,151(+) TGTTA(A/G)GCTGA intron-variant
rs169970 -- 197,532,153(-) agata(C/T)catct intron-variant
rs301493 -- 197,531,905(-) cacac(A/G)tatgt intron-variant
rs301494 -- 197,531,793(-) tacta(C/T)gcagc intron-variant
rs301495 -- 197,531,785(-) agcca(G/T)aaaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DENND1B Gene

Variant ID Type Subtype PubMed ID
nsv521647 CNV Gain 19592680
nsv873074 CNV Loss 21882294
nsv873075 CNV Gain 21882294
nsv4010 CNV Loss 18451855
esv992847 CNV Deletion 20482838
esv2558030 CNV Deletion 19546169
esv2053199 CNV Deletion 18987734
nsv511726 CNV Loss 21212237
esv4662 CNV Deletion 18987735
nsv498702 CNV Loss 21111241
esv987539 CNV Deletion 20482838
esv2721073 CNV Deletion 23290073
esv1218085 CNV Deletion 17803354
esv7266 CNV Loss 19470904
esv1029151 CNV Insertion 17803354
nsv873076 CNV Loss 21882294
nsv437263 CNV Loss 16327808
nsv873077 CNV Loss 21882294
esv1439856 CNV Insertion 17803354
esv2721084 CNV Deletion 23290073
esv2657002 CNV Deletion 23128226
nsv522400 CNV Loss 19592680

Relevant External Links for DENND1B Gene

HapMap Linkage Disequilibrium report
DENND1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND1B Gene

Disorders for DENND1B Gene

Relevant External Links for DENND1B

Genetic Association Database (GAD)
DENND1B
Human Genome Epidemiology (HuGE) Navigator
DENND1B
genes like me logo Genes that share disorders with DENND1B: view

No data available for UniProtKB/Swiss-Prot for DENND1B Gene

Publications for DENND1B Gene

  1. Variants of DENND1B associated with asthma in children. (PMID: 20032318) Sleiman P.M. … Hakonarson H. (N. Engl. J. Med. 2010) 3 4 48
  2. 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
  3. Analyses of shared genetic factors between asthma and obesity in children. (PMID: 20816195) MelAcn E. … Lasky-Su J. (J. Allergy Clin. Immunol. 2010) 3 48
  4. 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
  5. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PMID: 21102463) Franke A. … Parkes M. (Nat. Genet. 2010) 3 48

Products for DENND1B Gene

Sources for DENND1B Gene

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