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Aliases for RASGEF1A Gene

Aliases for RASGEF1A Gene

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

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 Hirschsprung Disease 1. Among its related pathways are RET signaling and Innate Immune System. 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 for RASGEF1A Gene

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

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASGEF1A Gene

Genomics for RASGEF1A Gene

Regulatory Elements for RASGEF1A Gene

Enhancers for RASGEF1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G043136 1.7 FANTOM5 ENCODE dbSUPER 9.7 +127.8 127849 4.3 FOXA2 ARNT CREB3L1 ARID4B SIN3A ZNF2 ZNF766 FOS ZNF263 SP5 CSGALNACT2 HNRNPF ENSG00000273008 RASGEF1A GC10P043154
GH10G043377 1.1 ENCODE dbSUPER 11.2 -110.6 -110606 1.0 DRAP1 CTCF PKNOX1 SAP130 TEAD4 ARID4B DMAP1 RAD21 ZIC2 TEAD3 RASGEF1A LOC105378272 FXYD4 PIR56810
GH10G043293 1 Ensembl ENCODE 12.3 -27.3 -27330 2.1 ELF3 CTCF MAX ZIC2 RAD21 SMC3 RCOR1 ZNF600 DEK ZNF654 RNU6ATAC11P RASGEF1A LOC105378271
GH10G043385 1 ENCODE dbSUPER 11.2 -117.8 -117819 0.1 HNRNPUL1 AGO1 DDX20 ZIC2 ZNF48 POLR2A EGR1 EGR2 PAF1 SCRT1 RASGEF1A PIR56810 FXYD4
GH10G043265 1 FANTOM5 ENCODE 10.9 +0.9 932 0.3 CTCF FOXA2 SUZ12 KLF17 ZIC2 RAD21 ZFHX2 GLIS2 PATZ1 SMC3 CSGALNACT2 RASGEF1A GC10P043152 GC10P043153
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RASGEF1A on UCSC Golden Path with GeneCards custom track

Genomic Location for RASGEF1A Gene

Chromosome:
10
Start:
43,194,533 bp from pter
End:
43,266,919 bp from pter
Size:
72,387 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

Suggested Antigen Peptide Sequences for RASGEF1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families 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.

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 TAS --
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

Clone Products

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 5
extracellular 2
golgi apparatus 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RASGEF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
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

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:0043547 positive regulation of GTPase activity IEA --
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

Unigene Clusters for RASGEF1A Gene

RasGEF domain family, member 1A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
RASGEF1A

Expression for RASGEF1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of RASGEF1A Gene:

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(4.3)
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 34 35
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia RASGEF1A 34 35
  • 91.46 (n)
dog
(Canis familiaris)
Mammalia RASGEF1A 34 35
  • 90.92 (n)
mouse
(Mus musculus)
Mammalia Rasgef1a 34 16 35
  • 89.16 (n)
rat
(Rattus norvegicus)
Mammalia Rasgef1a 34
  • 88.82 (n)
oppossum
(Monodelphis domestica)
Mammalia RASGEF1A 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASGEF1A 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASGEF1A 34 35
  • 80.67 (n)
lizard
(Anolis carolinensis)
Reptilia RASGEF1A 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasgef1a 34
  • 74.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24425 34
fruit fly
(Drosophila melanogaster)
Insecta CG7369 35
  • 29 (a)
ManyToMany
CG4853 35
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea R05G6.10 35
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
OneToMany
Species where no ortholog for RASGEF1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for RASGEF1A Gene

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

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

Variants for RASGEF1A Gene

Sequence variations from dbSNP and Humsavar for RASGEF1A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000073761 -- 43,217,929(+) TCCCA(C/T)CTGCT intron-variant
rs1000076983 -- 43,220,546(+) TGGGA(A/G)GCCAA intron-variant
rs1000088491 -- 43,255,016(+) CATTC(C/T)CAGGC intron-variant
rs1000170018 -- 43,212,247(+) CTCTC(C/T)ACTCG intron-variant
rs1000172676 -- 43,259,734(+) ACGTT(C/T)AGGGG intron-variant

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)

Relevant External Links for RASGEF1A Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASGEF1A Gene

Disorders for RASGEF1A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
intrahepatic cholangiocarcinoma
  • intrahepatic bile duct carcinoma
hirschsprung disease 1
  • hirschsprung's disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RASGEF1A

Genetic Association Database (GAD)
RASGEF1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 U.H. (FEBS J. 2009) 2 3 4 64
  2. Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. (PMID: 19196962) Garcia-Barcelo M.M. … Tam P.K. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 46 64
  3. Enhanced RASGEF1A expression is involved in the growth and migration of intrahepatic cholangiocarcinoma. (PMID: 17121879) Ura K. … Furukawa Y. (Clin. Cancer Res. 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease. (PMID: 25310821) Kim J.H. … Shin H.D. (PLoS ONE 2014) 3 64

Products for RASGEF1A Gene

Sources for RASGEF1A Gene

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