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Aliases for DENND1C Gene

Aliases for DENND1C Gene

  • DENN Domain Containing 1C 2 3 5
  • Connecdenn 3 2 3 4
  • Family With Sequence Similarity 31, Member C 2 3
  • DENN Domain-Containing Protein 1C 3 4
  • DENN/MADD Domain Containing 1C 2 3
  • FAM31C 3 4
  • Protein FAM31C 4

External Ids for DENND1C Gene

Previous HGNC Symbols for DENND1C Gene

  • FAM31C

Previous GeneCards Identifiers for DENND1C Gene

  • GC19M006419
  • GC19M006230

Summaries for DENND1C Gene

Entrez Gene Summary for DENND1C Gene

  • The protein encoded by this gene functions as a guanine nucleotide exchange factor for the early endosomal small GTPase RAB35, which regulates endosomal membrane trafficking and is involved in actin polymerization. The encoded protein activates RAB35 by promoting the exchange of RAB35-bound GDP for GTP. This gene may play a role in linking RAB35 activation with the clathrin machinery. [provided by RefSeq, May 2017]

GeneCards Summary for DENND1C Gene

DENND1C (DENN Domain Containing 1C) 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 Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND1A.

UniProtKB/Swiss-Prot for DENND1C Gene

  • Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

Additional gene information for DENND1C Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DENND1C Gene

Genomics for DENND1C Gene

GeneHancer (GH) Regulatory Elements for DENND1C Gene

Promoters and enhancers for DENND1C 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
GH19J006480 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 600.7 +0.8 762 2.4 CTCF ZNF148 ZNF687 CREM MLLT1 POLR2A IKZF2 ZIC2 GATAD2A ATF1 DENND1C SLC25A23 SLC25A41 MLLT1 ENSG00000275234
GH19J006484 Enhancer 0.4 Ensembl 600.7 -1.8 -1844 0.4 CEBPB MAX ZNF18 DENND1C ENSG00000268191 ENSG00000268203
GH19J006587 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.1 -106.9 -106850 4.8 SP1 CBFA2T2 NKRF MLLT1 POLR2A GTF2F1 ZNF384 ZNF687 MCM2 RELA CD70 DUS3L DENND1C ZNF557 ARHGEF18 SAFB VMAC TRIP10 TNFSF9 PSPN
GH19J005902 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.4 +578.4 578356 4 SP1 ZFX ELF3 MNT NKRF POLR2A ZNF121 ZNF687 ZSCAN21 FOS VMAC ENSG00000267314 ENSG00000267740 NDUFA11 KHSRP CAPS SAFB DUS3L SNRPEP4 ENSG00000267571
GH19J006674 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 15 -192.6 -192550 1.1 SP1 NKRF MLLT1 GTF2F1 BACH1 MAFK RELA ZNF548 CREM EGR1 TNFSF14 XAB2 ZNF557 KHSRP DUS3L DENND1C C3 GPR108 TRIP10 RANBP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DENND1C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DENND1C gene promoter:
  • AP-4
  • E47
  • NF-E2
  • NF-E2 p45
  • Pax-6
  • Sp1
  • Tal-1beta
  • YY1
  • Zic1

Genomic Locations for DENND1C Gene

Genomic Locations for DENND1C Gene
chr19:6,467,204-6,482,557
(GRCh38/hg38)
Size:
15,354 bases
Orientation:
Minus strand
chr19:6,467,218-6,482,568
(GRCh37/hg19)
Size:
15,351 bases
Orientation:
Minus strand

Genomic View for DENND1C Gene

Genes around DENND1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DENND1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DENND1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND1C Gene

Proteins for DENND1C Gene

  • Protein details for DENND1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IV53-DEN1C_HUMAN
    Recommended name:
    DENN domain-containing protein 1C
    Protein Accession:
    Q8IV53
    Secondary Accessions:
    • B4E051
    • D3PFD4
    • Q8NDB1
    • Q9H5Z2

    Protein attributes for DENND1C Gene

    Size:
    801 amino acids
    Molecular mass:
    87065 Da
    Quaternary structure:
    • Exhibits low nucleotide-independent RAB35-binding activity. Interacts with clathrin heavy chain/CLTC and with AP2A2, but not with AP2B1.
    SequenceCaution:
    • Sequence=BAB15475.1; Type=Frameshift; Positions=788; Evidence={ECO:0000305};

    Alternative splice isoforms for DENND1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DENND1C Gene

Post-translational modifications for DENND1C Gene

  • Ubiquitination at posLast=469469, isoforms=2460, and isoforms=2385
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DENND1C Gene

Domains & Families for DENND1C Gene

Gene Families for DENND1C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DENND1C Gene

Suggested Antigen Peptide Sequences for DENND1C Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ31258 fis, clone KIDNE2005781, weakly similar to CELL SURFACE GLYCOPROTEIN 1 (B3KP66_HUMAN)
  • Protein FAM31C (DEN1C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DENND1C: view

No data available for UniProtKB/Swiss-Prot for DENND1C Gene

Function for DENND1C Gene

Molecular function for DENND1C Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

Phenotypes From GWAS Catalog for DENND1C Gene

Gene Ontology (GO) - Molecular Function for DENND1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA,IEA 20937701
GO:0017137 Rab GTPase binding IBA 21873635
GO:1901981 phosphatidylinositol phosphate binding IBA 21873635
genes like me logo Genes that share ontologies with DENND1C: view
genes like me logo Genes that share phenotypes with DENND1C: view

Animal Models for DENND1C Gene

MGI Knock Outs for DENND1C:

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for DENND1C - Now 50% OFF >
  • * DENND1C as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * DENND1C tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DENND1C Gene

Localization for DENND1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for DENND1C Gene

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

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 DENND1C gene
Compartment Confidence
cytosol 3
plasma membrane 2
nucleus 2
cytoskeleton 1
endosome 1

Gene Ontology (GO) - Cellular Components for DENND1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0030136 clathrin-coated vesicle IEA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with DENND1C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DENND1C Gene

Pathways & Interactions for DENND1C Gene

genes like me logo Genes that share pathways with DENND1C: view

Pathways by source for DENND1C Gene

Interacting Proteins for DENND1C Gene

Gene Ontology (GO) - Biological Process for DENND1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IBA 21873635
GO:0032456 endocytic recycling IBA 21873635
genes like me logo Genes that share ontologies with DENND1C: view

No data available for SIGNOR curated interactions for DENND1C Gene

Drugs & Compounds for DENND1C Gene

No Compound Related Data Available

Transcripts for DENND1C Gene

mRNA/cDNA for DENND1C Gene

Unigene Clusters for DENND1C Gene

DENN/MADD domain containing 1C:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for DENND1C - Now 50% OFF >
  • * DENND1C as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * DENND1C tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for DENND1C Gene

No ASD Table

Relevant External Links for DENND1C Gene

GeneLoc Exon Structure for
DENND1C
ECgene alternative splicing isoforms for
DENND1C

Expression for DENND1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DENND1C Gene

mRNA differential expression in normal tissues according to GTEx for DENND1C Gene

This gene is overexpressed in Whole Blood (x19.3) and Spleen (x7.1).

Protein differential expression in normal tissues from HIPED for DENND1C Gene

This gene is overexpressed in Lymph node (16.0), NK cells (13.8), CD8 Tcells (10.7), Blymphocyte (10.2), and Peripheral blood mononuclear cells (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DENND1C Gene



Protein tissue co-expression partners for DENND1C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DENND1C Gene:

DENND1C

SOURCE GeneReport for Unigene cluster for DENND1C Gene:

Hs.236449

Evidence on tissue expression from TISSUES for DENND1C Gene

  • Lymph node(4.4)
  • Intestine(4.3)
  • Liver(4.2)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with DENND1C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DENND1C Gene

Orthologs for DENND1C Gene

This gene was present in the common ancestor of animals.

Orthologs for DENND1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DENND1C 35 34
  • 95.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DENND1C 35 34
  • 84.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DENND1C 35 34
  • 82.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dennd1c 17 35 34
  • 75.69 (n)
rat
(Rattus norvegicus)
Mammalia Dennd1c 34
  • 73.11 (n)
oppossum
(Monodelphis domestica)
Mammalia DENND1C 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 10 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia DENND1C 35
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd1c 34
  • 59.38 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-76b14.2 34
  • 55.9 (n)
DENND1C 35
  • 36 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18659 35
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rme-4 35
  • 27 (a)
OneToMany
Species where no ortholog for DENND1C 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)
  • chicken (Gallus gallus)
  • 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 DENND1C Gene

ENSEMBL:
Gene Tree for DENND1C (if available)
TreeFam:
Gene Tree for DENND1C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DENND1C: view image

Paralogs for DENND1C Gene

Paralogs for DENND1C Gene

(2) SIMAP similar genes for DENND1C Gene using alignment to 7 proteins:

  • DEN1C_HUMAN
  • B3KP66_HUMAN
  • K7EKL5_HUMAN
  • K7EM30_HUMAN
  • K7EM80_HUMAN
  • K7EMN9_HUMAN
  • K7ENM0_HUMAN

Pseudogenes.org Pseudogenes for DENND1C Gene

genes like me logo Genes that share paralogs with DENND1C: view

Variants for DENND1C Gene

Sequence variations from dbSNP and Humsavar for DENND1C Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs751257354 uncertain-significance, not specified 6,477,249(-) A/G coding_sequence_variant, missense_variant
rs1000017818 -- 6,470,674(-) T/C intron_variant
rs1000244407 -- 6,473,064(-) T/C intron_variant
rs1000418310 -- 6,468,643(-) G/A coding_sequence_variant, synonymous_variant
rs1000468877 -- 6,478,460(-) C/G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DENND1C Gene

Variant ID Type Subtype PubMed ID
esv2161777 CNV deletion 18987734
nsv1149440 CNV deletion 26484159
nsv833727 CNV loss 17160897

Variation tolerance for DENND1C Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.69; 78.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DENND1C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND1C Gene

Disorders for DENND1C Gene

Additional Disease Information for DENND1C

No disorders were found for DENND1C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DENND1C Gene

Publications for DENND1C Gene

  1. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S … Barr FA (The Journal of cell biology 2010) 2 3 4 58
  2. The connecdenn family, Rab35 guanine nucleotide exchange factors interfacing with the clathrin machinery. (PMID: 20154091) Marat AL … McPherson PS (The Journal of biological chemistry 2010) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3 58
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58

Products for DENND1C Gene

Sources for DENND1C Gene

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