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RASGEF1A RasGEF domain family member 1A [ Homo sapiens (human) ]

Gene ID: 221002, updated on 11-Apr-2024

Summary

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Official Symbol
RASGEF1Aprovided by HGNC
Official Full Name
RasGEF domain family member 1Aprovided by HGNC
Primary source
HGNC:HGNC:24246
See related
Ensembl:ENSG00000198915 MIM:614531; AllianceGenome:HGNC:24246
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CG4853
Summary
Enables guanyl-nucleotide exchange factor activity. Involved in cell migration and positive regulation of Ras protein signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 7.0), bone marrow (RPKM 2.1) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
10q11.21
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (43194535..43267065, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (44073458..44145984, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (43689983..43762513, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CSGALNACT2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2318 Neighboring gene chondroitin sulfate N-acetylgalactosaminyltransferase 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:43655229-43656428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_12290 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:43686663-43686892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43696895-43697396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43700051-43700884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43707013-43707615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43711759-43712514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43712515-43713270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43723488-43724298 Neighboring gene uncharacterized LOC107984225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43726130-43726684 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_12309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43744792-43745584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43745585-43746376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43754815-43755598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43761143-43762018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43778224-43778748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43781282-43781790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43789145-43789646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43789647-43790146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43812626-43813176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43813177-43813727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:43813728-43814277 Neighboring gene uncharacterized LOC105378271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:43815195-43816027 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:43825470-43826141 Neighboring gene long intergenic non-protein coding RNA 2633 Neighboring gene uncharacterized LOC124902414

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The prognostic value of RASGEF1A RNA expression and DNA methylation in cytogenetically normal acute myeloid leukemia. He X, et al. Cancer Biomark, 2023. PMID 36404533
  2. Enhanced RASGEF1A expression is involved in the growth and migration of intrahepatic cholangiocarcinoma. Ura K, et al. Clin Cancer Res, 2006 Nov 15. PMID 17121879
  3. Identifying candidate Hirschsprung disease-associated RET variants. Burzynski GM, et al. Am J Hum Genet, 2005 May. PMID 15759212, Free PMC Article
  4. Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Garcia-Barcelo MM, et al. Proc Natl Acad Sci U S A, 2009 Feb 24. PMID 19196962, Free PMC Article
  5. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Emison ES, et al. Nature, 2005 Apr 14. PMID 15829955

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The prognostic value of RASGEF1A RNA expression and DNA methylation in cytogenetically normal acute myeloid leukemia.
    Title: The prognostic value of RASGEF1A RNA expression and DNA methylation in cytogenetically normal acute myeloid leukemia.
  2. analyzed residues that allow RasGEF1 proteins to discriminate between Rap1 and Rap2, and identified Phe39 in the switch I region of Rap2 as a specificity residue.
    Title: RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-specific nucleotide exchange.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
EBI GWAS Catalog
Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.
EBI GWAS Catalog
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37817

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of Ras protein signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ras-GEF domain-containing family member 1A
Names
CG4853 gene product

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282862.2 → NP_001269791.1  ras-GEF domain-containing family member 1A isoform 1

    See identical proteins and their annotated locations for NP_001269791.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC068707
    Consensus CDS
    CCDS60517.1
    UniProtKB/TrEMBL
    B3KXJ1
    Related
    ENSP00000363583.1, ENST00000374459.5
    Conserved Domains (2) summary
    cd06224
    Location:57 → 184
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00147
    Location:222 → 470
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

  2. NM_145313.4 → NP_660356.2  ras-GEF domain-containing family member 1A isoform 2

    See identical proteins and their annotated locations for NP_660356.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' terminal exon and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC068707
    Consensus CDS
    CCDS7202.2
    UniProtKB/Swiss-Prot
    Q8N9B8, Q8TBF1
    UniProtKB/TrEMBL
    B3KXJ1
    Related
    ENSP00000379155.1, ENST00000395810.6
    Conserved Domains (2) summary
    cd06224
    Location:49 → 176
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00147
    Location:214 → 462
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    43194535..43267065 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271809.4 → XP_005271866.1  ras-GEF domain-containing family member 1A isoform X1

    See identical proteins and their annotated locations for XP_005271866.1

    UniProtKB/TrEMBL
    B3KXJ1
    Conserved Domains (2) summary
    pfam00617
    Location:138 → 331
    RasGEF; RasGEF domain
    cl02520
    Location:1 → 96
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...

  2. XM_011539500.3 → XP_011537802.1  ras-GEF domain-containing family member 1A isoform X1

    See identical proteins and their annotated locations for XP_011537802.1

    UniProtKB/TrEMBL
    B3KXJ1
    Conserved Domains (2) summary
    pfam00617
    Location:138 → 331
    RasGEF; RasGEF domain
    cl02520
    Location:1 → 96
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    44073458..44145984 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365101.1 → XP_054221076.1  ras-GEF domain-containing family member 1A isoform X1

  2. XM_054365102.1 → XP_054221077.1  ras-GEF domain-containing family member 1A isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N9B8.2 GenPept UniProtKB/Swiss-Prot:Q8N9B8

Gene LinkOut

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