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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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