Aliases for RASGEF1A Gene

Aliases for RASGEF1A Gene

  • RasGEF Domain Family Member 1A 2 3 5
  • Ras-GEF Domain-Containing Family Member 1A 3 4
  • CG4853 2 3
  • CG4853 Gene Product 3
  • RASGEF1A 5
  • FLJ37817 2

External Ids for RASGEF1A Gene

Previous GeneCards Identifiers for RASGEF1A Gene

  • GC10M042973
  • GC10M043009
  • GC10M043689
  • GC10M040217

Summaries for RASGEF1A Gene

GeneCards Summary for RASGEF1A Gene

RASGEF1A (RasGEF Domain Family Member 1A) is a Protein Coding gene. Diseases associated with RASGEF1A include Intrahepatic Cholangiocarcinoma and Cholangiocarcinoma. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and Ras guanyl-nucleotide exchange factor activity. An important paralog of this gene is RASGEF1B.

UniProtKB/Swiss-Prot Summary for RASGEF1A Gene

  • Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration.

Additional gene information for RASGEF1A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RASGEF1A Gene

Genomics for RASGEF1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RASGEF1A 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
GH10J043392 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 604.7 -134.6 -134565 18.5 RNF2 CEBPG SP1 HNRNPL CREB1 GATAD2A ATF7 TEAD4 PRDM10 ZNF629 HNRNPF RASGEF1A BMS1 EIF3LP2 ZNF32-AS2 ZNF37BP HNRNPA3P1 ZNF33B ZNF32-AS1 ZNF32
GH10J043266 Promoter 1.1 EPDnew Ensembl 600.7 +0.2 165 1 PRDM10 ZIC2 PATZ1 CTCF EZH2 ZNF600 ZNF341 ZBTB20 ZBTB26 ZBTB17 RASGEF1A lnc-CSGALNACT2-4 CSGALNACT2
GH10J043265 Enhancer 0.9 FANTOM5 ENCODE 610.8 +1.1 1077 0.3 HNRNPL CTCF PRDM10 FOXA1 ZIC2 PATZ1 EZH2 ZNF600 ZNF341 ZBTB20 RASGEF1A CSGALNACT2 lnc-CSGALNACT2-4
GH10J043136 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +127.6 127564 5.8 CREB1 GATAD2A HNRNPL PRDM10 ZNF629 TFE3 ZNF692 POLR2A BACH1 LARP7 CSGALNACT2 ENSG00000273008 HNRNPF RASGEF1A piR-44858-002
GH10J043286 Enhancer 1.2 FANTOM5 Ensembl ENCODE 13 -20.9 -20935 4.8 CREB1 LEF1 ZNF692 JUND FOXA1 ZNF24 DPF2 HDAC1 GABPA ETV6 lnc-FXYD4-5 CSGALNACT2 RASGEF1A RNU6ATAC11P piR-31433-003 FXYD4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASGEF1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RASGEF1A

Top Transcription factor binding sites by QIAGEN in the RASGEF1A gene promoter:
  • GATA-3
  • HNF-1
  • HNF-1A
  • HNF-4alpha2
  • LCR-F1
  • Nkx2-5
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT5B

Genomic Locations for RASGEF1A Gene

Genomic Locations for RASGEF1A Gene
chr10:43,194,533-43,267,065
(GRCh38/hg38)
Size:
72,533 bases
Orientation:
Minus strand
chr10:43,689,983-43,762,367
(GRCh37/hg19)
Size:
72,385 bases
Orientation:
Minus strand

Genomic View for RASGEF1A Gene

Genes around RASGEF1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASGEF1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASGEF1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASGEF1A Gene

Proteins for RASGEF1A Gene

  • Protein details for RASGEF1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9B8-RGF1A_HUMAN
    Recommended name:
    Ras-GEF domain-containing family member 1A
    Protein Accession:
    Q8N9B8
    Secondary Accessions:
    • Q8TBF1

    Protein attributes for RASGEF1A Gene

    Size:
    481 amino acids
    Molecular mass:
    54556 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RASGEF1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASGEF1A Gene

Post-translational modifications for RASGEF1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RASGEF1A Gene

No data available for DME Specific Peptides for RASGEF1A Gene

Domains & Families for RASGEF1A Gene

Gene Families for RASGEF1A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RASGEF1A Gene

InterPro:
Blocks:
  • Guanine-nucleotide dissociation stimulator CDC25
ProtoNet:

Suggested Antigen Peptide Sequences for RASGEF1A Gene

GenScript: Design optimal peptide antigens:
  • Ras-GEF domain-containing family member 1A (RGF1A_HUMAN)
genes like me logo Genes that share domains with RASGEF1A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RASGEF1A Gene

Function for RASGEF1A Gene

Molecular function for RASGEF1A Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration.

Phenotypes From GWAS Catalog for RASGEF1A Gene

Gene Ontology (GO) - Molecular Function for RASGEF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity IDA 17121879
genes like me logo Genes that share ontologies with RASGEF1A: view
genes like me logo Genes that share phenotypes with RASGEF1A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASGEF1A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RASGEF1A Gene

Localization for RASGEF1A 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 RASGEF1A gene
Compartment Confidence
cytosol 4
extracellular 2
golgi apparatus 2
cytoskeleton 1
nucleus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RASGEF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RASGEF1A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RASGEF1A Gene

Pathways & Interactions for RASGEF1A Gene

PathCards logo

SuperPathways for RASGEF1A Gene

SuperPathway Contained pathways
1 RET signaling
2 Developmental Biology
3 Cytokine Signaling in Immune system
4 Innate Immune System
5 Signaling by GPCR
genes like me logo Genes that share pathways with RASGEF1A: view

Pathways by source for RASGEF1A Gene

Interacting Proteins for RASGEF1A Gene

SIGNOR curated interactions for RASGEF1A Gene

Activates:

Gene Ontology (GO) - Biological Process for RASGEF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0016477 cell migration IDA 17121879
GO:0046579 positive regulation of Ras protein signal transduction IDA 17121879
genes like me logo Genes that share ontologies with RASGEF1A: view

Drugs & Compounds for RASGEF1A Gene

(3) Drugs for RASGEF1A 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 RASGEF1A: view

Transcripts for RASGEF1A Gene

mRNA/cDNA for RASGEF1A Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASGEF1A

Alternative Splicing Database (ASD) splice patterns (SP) for RASGEF1A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: - - -
SP2: - -
SP3: -
SP4: - - - -
SP5:

Relevant External Links for RASGEF1A Gene

GeneLoc Exon Structure for
RASGEF1A

Expression for RASGEF1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RASGEF1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RASGEF1A Gene

This gene is overexpressed in Brain - Cortex (x4.6) and Brain - Nucleus accumbens (basal ganglia) (x4.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RASGEF1A

SOURCE GeneReport for Unigene cluster for RASGEF1A Gene:

Hs.125293

mRNA Expression by UniProt/SwissProt for RASGEF1A Gene:

Q8N9B8-RGF1A_HUMAN
Tissue specificity: Detected in brain and spinal cord. Highly expressed in a number of intrahepatic cholangiocarcinoma tissue biopsies.

Evidence on tissue expression from TISSUES for RASGEF1A Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with RASGEF1A: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RASGEF1A Gene

Orthologs for RASGEF1A Gene

This gene was present in the common ancestor of animals.

Orthologs for RASGEF1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RASGEF1A 30 31
  • 99.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RASGEF1A 30 31
  • 91.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RASGEF1A 30 31
  • 90.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rasgef1a 30 17 31
  • 89.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rasgef1a 30
  • 88.82 (n)
Oppossum
(Monodelphis domestica)
Mammalia RASGEF1A 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RASGEF1A 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RASGEF1A 30 31
  • 80.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RASGEF1A 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rasgef1a 30
  • 74.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24425 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7369 31
  • 29 (a)
ManyToMany
CG4853 31
  • 24 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea R05G6.10 31
  • 34 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 20 (a)
OneToMany
Species where no ortholog for RASGEF1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for RASGEF1A Gene

ENSEMBL:
Gene Tree for RASGEF1A (if available)
TreeFam:
Gene Tree for RASGEF1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RASGEF1A: view image

Paralogs for RASGEF1A Gene

(2) SIMAP similar genes for RASGEF1A Gene using alignment to 2 proteins:

  • RGF1A_HUMAN
  • H7BYA3_HUMAN
genes like me logo Genes that share paralogs with RASGEF1A: view

Variants for RASGEF1A Gene

Additional dbSNP identifiers (rs#s) for RASGEF1A Gene

Structural Variations from Database of Genomic Variants (DGV) for RASGEF1A Gene

Variant ID Type Subtype PubMed ID
dgv434n106 CNV deletion 24896259
dgv728n100 CNV gain 25217958
esv2656730 CNV deletion 23128226
esv2669702 CNV deletion 23128226
esv3546222 CNV deletion 23714750
esv3623039 CNV loss 21293372
nsv1068302 CNV deletion 25765185
nsv1068303 CNV deletion 25765185
nsv1068689 CNV deletion 25765185
nsv1119806 CNV deletion 24896259
nsv466881 CNV loss 19166990
nsv550696 CNV loss 21841781
nsv550697 CNV gain 21841781
nsv825351 CNV gain 20364138
nsv825352 CNV gain 20364138
nsv951566 CNV deletion 24416366

Variation tolerance for RASGEF1A Gene

Residual Variation Intolerance Score: 35.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RASGEF1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASGEF1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RASGEF1A Gene

Disorders for RASGEF1A Gene

MalaCards: The human disease database

(3) MalaCards diseases for RASGEF1A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
intrahepatic cholangiocarcinoma
  • cholangiocarcinoma
cholangiocarcinoma
  • cca
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RASGEF1A

genes like me logo Genes that share disorders with RASGEF1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RASGEF1A Gene

Publications for RASGEF1A Gene

  1. RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-specific nucleotide exchange. (PMID: 19645719) Yaman E … Tazebay UH (The FEBS journal 2009) 2 3 4
  2. Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. (PMID: 19196962) Garcia-Barcelo MM … Tam PK (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 41
  3. Enhanced RASGEF1A expression is involved in the growth and migration of intrahepatic cholangiocarcinoma. (PMID: 17121879) Ura K … Furukawa Y (Clinical cancer research : an official journal of the American Association for Cancer Research 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease. (PMID: 25310821) Kim JH … Shin HD (PloS one 2014) 3

Products for RASGEF1A Gene

  • Signalway Proteins for RASGEF1A

Sources for RASGEF1A Gene