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 mac... See more...

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
  • FLJ22757 2
  • DENND1C 5

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. Diseases associated with DENND1C include Psoriasis 7. 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 Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DENND1C Gene

Genomics for DENND1C Gene

GeneHancer (GH) Regulatory Elements Pubs

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 1.5 EPDnew Ensembl ENCODE 250.7 +0.7 676 2.2 MYC POLR2A ZIC2 CTCF REST SIN3A TRIM22 THAP11 SMAD4 SAP130 DENND1C HSALNG0123554 SLC25A23 SLC25A41 MLLT1
GH19J005902 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 15.4 +578.2 578156 4.4 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 ZNF580 ATF2 KLF9 POLR2A VMAC ENSG00000267314 ENSG00000267740 HSALNG0123507 HSALNG0123508 NDUFA11 lnc-NDUFA11-3 KHSRP SAFB DUS3L
GH19J006674 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15 -192.6 -192550 1.1 BCLAF1 SP1 ZNF207 ZNF600 NCOR1 SSRP1 ZNF592 NFIC BCL11A REST piR-57460-335 TNFSF14 DENND1C C3 GPR108 TRIP10 XAB2 ZNF557 DUS3L KHSRP
GH19J006587 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 18.1 -105.2 -105212 1.5 BCLAF1 SP1 ZNF207 IKZF1 POLR2A BCL11A TARDBP TRIM22 BHLHE40 MNT DUS3L ZNF557 VMAC DENND1C SAFB TRIP10 GPR108 CD70 TNFSF9 RPL7P50
GH19J007177 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.4 -698.5 -698518 7.1 BCLAF1 ZNF654 ZNF207 ZNF600 CEBPA ZIC2 BCL11A TRIM22 FEZF1 ZNF610 ELAVL1 KHSRP XAB2 ZNF557 GTF2F1 MAP2K7 DENND1C ARHGEF18 GPR108 EVI5L
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DENND1C

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

Latest Assembly
chr19:6,467,204-6,482,557
(GRCh38/hg38)
Size:
15,354 bases
Orientation:
Minus strand

Previous Assembly
chr19:6,467,218-6,481,798
(GRCh37/hg19 by Entrez Gene)
Size:
14,581 bases
Orientation:
Minus strand

chr19:6,467,218-6,482,568
(GRCh37/hg19 by Ensembl)
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; 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 Lys385, Lys460, and Lys469
  • 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)
genes like me logo Genes that share domains with DENND1C: view

No data available for Graphical View of Domain Structure and 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:0005085 guanyl-nucleotide exchange factor activity IBA,IDA 20937701
GO:0005515 protein binding IPI 32296183
GO:0017112 Rab guanyl-nucleotide exchange factor activity IEA --
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DENND1C

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
cytoskeleton 4
nucleus 4
cytosol 4
plasma membrane 2
extracellular 1
endosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for DENND1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
GO:0005829 cytosol TAS --
GO:0030136 clathrin-coated vesicle IEA --
genes like me logo Genes that share ontologies with DENND1C: view

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
GO:0050790 regulation of catalytic activity IEA --
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

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DENND1C

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

No ASD Table

Relevant External Links for DENND1C Gene

GeneLoc Exon Structure for
DENND1C

Expression for DENND1C Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Spleen (Hematopoietic System)
  • Thymus (Hematopoietic System)

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Blood(2.5)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with DENND1C: view

Primer products for research

No data available for 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 29 30
  • 95.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DENND1C 29 30
  • 84.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DENND1C 29 30
  • 82.47 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dennd1c 29 16 30
  • 75.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dennd1c 29
  • 73.11 (n)
Oppossum
(Monodelphis domestica)
Mammalia DENND1C 30
  • 63 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 10 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia DENND1C 30
  • 41 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dennd1c 29
  • 59.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-76b14.2 29
  • 55.9 (n)
DENND1C 30
  • 36 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG18659 30
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rme-4 30
  • 27 (a)
OneToMany
Species where no ortholog for DENND1C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for DENND1C

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DENND1C Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs751257354 Uncertain Significance: not specified 6,477,249(-) A/G
NM_024898.4(DENND1C):c.482T>C (p.Ile161Thr)
MISSENSE
rs10416003 -- p.Ala23Thr
rs35001260 -- p.Arg489Cys
rs35810378 -- p.Ala542Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DENND1C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
DENND1C

SNP Genotyping and Copy Number Assays for research

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

Disorders for DENND1C Gene

MalaCards: The human disease database

(1) MalaCards diseases for DENND1C Gene - From: COP

Disorder Aliases PubMed IDs
psoriasis 7
  • psoriasis 7, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DENND1C

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

No data available for 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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

Products for DENND1C Gene

Sources for DENND1C Gene