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Aliases for RASGEF1C Gene

Aliases for RASGEF1C Gene

  • RasGEF Domain Family Member 1C 2 3 5
  • Ras-GEF Domain-Containing Family Member 1C 3

External Ids for RASGEF1C Gene

Previous GeneCards Identifiers for RASGEF1C Gene

  • GC05M179637
  • GC05M179460
  • GC05M174252
  • GC05M179527

Summaries for RASGEF1C Gene

GeneCards Summary for RASGEF1C Gene

RASGEF1C (RasGEF Domain Family Member 1C) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is RASGEF1B.

UniProtKB/Swiss-Prot for RASGEF1C Gene

  • Guanine nucleotide exchange factor (GEF).

Additional gene information for RASGEF1C Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASGEF1C Gene

Genomics for RASGEF1C Gene

GeneHancer (GH) Regulatory Elements for RASGEF1C Gene

Promoters and enhancers for RASGEF1C 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
GH05J180208 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 0.0 -48 0.8 RB1 KLF17 RAD21 ZNF766 GLIS2 ZNF143 RCOR1 SMARCA5 GATAD2B ZEB2 RASGEF1C TRIM7 RPS8P7
GH05J180209 Enhancer 0.4 FANTOM5 661.4 +1.0 1024 0.1 EGR1 ZNF701 ZKSCAN1 RASGEF1C HNRNPH1 MAML1 RUFY1 MAPK9 PRDX2P3 ENSG00000248367 MGAT1 MRNIP LOC646058
GH05J181202 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.3 -996.6 -996557 5.6 CLOCK ZFP64 IRF4 YY1 ZNF213 E2F8 SP3 NFYC ZNF610 GLIS1 TRIM7 ENSG00000248514 PIR42038 TRA-TGC3-1 GC05P181253 ENSG00000233937 TRIM52 CNOT6 ZFP62 RACK1
GH05J181187 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -981.1 -981077 6.5 MLX FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 SSRP1 GLIS1 RCOR2 TRP-TGG3-1 PIR54518 LINC01962 LOC105377769 GC05M181245 GC05M181242 TRV-AAC2-1 TRT-TGT6-1 ENSG00000233937 TRIM52
GH05J181172 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.3 -964.6 -964551 1.8 PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF213 E2F8 ZNF207 FOS KLF13 PIR55575 TRL-AAG1-3 TRV-CAC1-4 TRIM52 ZFP62 ENSG00000233937 CNOT6 ENSG00000248514 OR2V2 ENSG00000250765
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASGEF1C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RASGEF1C gene promoter:
  • JunD
  • JunB
  • Fra-1
  • FosB
  • c-Jun
  • c-Fos
  • AP-1
  • Ik-3
  • Max1
  • Bach1

Genomic Locations for RASGEF1C Gene

Genomic Locations for RASGEF1C Gene
chr5:180,100,791-180,209,153
(GRCh38/hg38)
Size:
108,363 bases
Orientation:
Minus strand
chr5:179,527,795-179,636,153
(GRCh37/hg19)
Size:
108,359 bases
Orientation:
Minus strand

Genomic View for RASGEF1C Gene

Genes around RASGEF1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASGEF1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASGEF1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASGEF1C Gene

Proteins for RASGEF1C Gene

  • Protein details for RASGEF1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N431-RGF1C_HUMAN
    Recommended name:
    Ras-GEF domain-containing family member 1C
    Protein Accession:
    Q8N431
    Secondary Accessions:
    • D3DWQ7
    • Q7Z4T0
    • Q8NA49

    Protein attributes for RASGEF1C Gene

    Size:
    466 amino acids
    Molecular mass:
    52870 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH36802.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RASGEF1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASGEF1C Gene

Post-translational modifications for RASGEF1C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RASGEF1C Gene

No data available for DME Specific Peptides for RASGEF1C Gene

Domains & Families for RASGEF1C Gene

Gene Families for RASGEF1C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RASGEF1C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RASGEF1C: view

No data available for UniProtKB/Swiss-Prot for RASGEF1C Gene

Function for RASGEF1C Gene

Molecular function for RASGEF1C Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF).

Phenotypes From GWAS Catalog for RASGEF1C Gene

Gene Ontology (GO) - Molecular Function for RASGEF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with RASGEF1C: view
genes like me logo Genes that share phenotypes with RASGEF1C: view

Animal Model Products

miRNA for RASGEF1C Gene

miRTarBase miRNAs that target RASGEF1C

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RASGEF1C Gene

Localization for RASGEF1C Gene

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 RASGEF1C gene
Compartment Confidence
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RASGEF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with RASGEF1C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RASGEF1C Gene

Pathways & Interactions for RASGEF1C Gene

SuperPathways for RASGEF1C Gene

No Data Available

Interacting Proteins for RASGEF1C Gene

SIGNOR curated interactions for RASGEF1C Gene

Activates:

Gene Ontology (GO) - Biological Process for RASGEF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with RASGEF1C: view

No data available for Pathways by source for RASGEF1C Gene

Drugs & Compounds for RASGEF1C Gene

(3) Drugs for RASGEF1C Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RASGEF1C: view

Transcripts for RASGEF1C Gene

mRNA/cDNA for RASGEF1C Gene

Unigene Clusters for RASGEF1C Gene

RasGEF domain family, member 1C:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RASGEF1C Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - - -
SP2: - - -
SP3:
SP4: -

Relevant External Links for RASGEF1C Gene

GeneLoc Exon Structure for
RASGEF1C
ECgene alternative splicing isoforms for
RASGEF1C

Expression for RASGEF1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RASGEF1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RASGEF1C Gene

This gene is overexpressed in Brain - Cerebellum (x9.8) and Brain - Cerebellar Hemisphere (x9.3).

Protein differential expression in normal tissues from HIPED for RASGEF1C Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RASGEF1C Gene



Protein tissue co-expression partners for RASGEF1C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RASGEF1C Gene:

RASGEF1C

SOURCE GeneReport for Unigene cluster for RASGEF1C Gene:

Hs.190559

Evidence on tissue expression from TISSUES for RASGEF1C Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with RASGEF1C: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RASGEF1C Gene

Orthologs for RASGEF1C Gene

This gene was present in the common ancestor of animals.

Orthologs for RASGEF1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RASGEF1C 34 33
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RASGEF1C 34 33
  • 91.2 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rasgef1c 33
  • 88.2 (n)
mouse
(Mus musculus)
Mammalia Rasgef1c 16 34 33
  • 88.05 (n)
cow
(Bos Taurus)
Mammalia RASGEF1C 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RASGEF1C 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASGEF1C 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASGEF1C 34 33
  • 75.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASGEF1C 34
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7369 34
  • 32 (a)
ManyToMany
CG4853 34
  • 25 (a)
ManyToMany
CG34393 34
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea R05G6.10 34
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
OneToMany
Species where no ortholog for RASGEF1C 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for RASGEF1C Gene

ENSEMBL:
Gene Tree for RASGEF1C (if available)
TreeFam:
Gene Tree for RASGEF1C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RASGEF1C: view image

Paralogs for RASGEF1C Gene

(2) SIMAP similar genes for RASGEF1C Gene using alignment to 2 proteins:

  • RGF1C_HUMAN
  • I6L9E5_HUMAN
genes like me logo Genes that share paralogs with RASGEF1C: view

Variants for RASGEF1C Gene

Sequence variations from dbSNP and Humsavar for RASGEF1C Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000115785 -- 180,173,639(-) G/A intron_variant
rs1000133140 -- 180,133,026(-) C/T intron_variant
rs1000137194 -- 180,198,219(-) A/G intron_variant
rs1000157561 -- 180,153,823(-) A/C intron_variant
rs1000178296 -- 180,114,349(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RASGEF1C Gene

Variant ID Type Subtype PubMed ID
esv1357659 CNV deletion 17803354
esv1492604 CNV deletion 17803354
esv2084548 CNV deletion 18987734
esv2591777 CNV insertion 19546169
esv2670240 CNV deletion 23128226
esv2731316 CNV deletion 23290073
esv2731318 CNV deletion 23290073
esv2731319 CNV deletion 23290073
esv2731320 CNV deletion 23290073
esv2731321 CNV deletion 23290073
esv2731322 CNV deletion 23290073
esv2759398 CNV gain 17122850
esv2763868 CNV loss 21179565
esv3392751 CNV duplication 20981092
esv3567111 CNV deletion 23714750
esv3570600 CNV loss 25503493
esv3570601 CNV loss 25503493
esv3607765 CNV gain 21293372
esv3607766 CNV loss 21293372
esv3890774 CNV loss 25118596
nsv1020038 CNV gain 25217958
nsv1021754 CNV loss 25217958
nsv1030036 CNV gain 25217958
nsv1033460 CNV loss 25217958
nsv1033706 CNV gain 25217958
nsv1073524 CNV deletion 25765185
nsv1122122 CNV deletion 24896259
nsv472058 CNV novel sequence insertion 20440878
nsv512864 CNV insertion 21212237
nsv525160 CNV loss 19592680
nsv528625 CNV loss 19592680
nsv830561 CNV loss 17160897
nsv830562 CNV loss 17160897

Variation tolerance for RASGEF1C Gene

Residual Variation Intolerance Score: 12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.16; 69.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RASGEF1C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASGEF1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASGEF1C Gene

Disorders for RASGEF1C Gene

Additional Disease Information for RASGEF1C

No disorders were found for RASGEF1C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RASGEF1C Gene

Publications for RASGEF1C Gene

  1. Rap1 and Rap2 antagonistically control endothelial barrier resistance. (PMID: 23469100) Pannekoek WJ … Rehmann H (PloS one 2013) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  5. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. (PMID: 20811636) Giannone RJ … Liu Y (PloS one 2010) 3 58

Products for RASGEF1C Gene

Sources for RASGEF1C Gene

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