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    RASGEF1C RasGEF domain family member 1C [ Homo sapiens (human) ]

    Gene ID: 255426, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RASGEF1Cprovided by HGNC
    Official Full Name
    RasGEF domain family member 1Cprovided by HGNC
    Primary source
    HGNC:HGNC:27400
    See related
    Ensembl:ENSG00000146090 AllianceGenome:HGNC:27400
    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
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 6.2), testis (RPKM 3.8) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RASGEF1C in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (180100795..180209211, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (180655720..180764663, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (179527795..179636211, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ring finger protein 130 Neighboring gene Sharpr-MPRA regulatory region 9602 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:179461041-179462240 Neighboring gene microRNA 340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179488124-179488890 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:179498433-179499140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16758 Neighboring gene GATA motif-containing MPRA enhancer 81 Neighboring gene histone PARylation factor 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179543501-179544266 Neighboring gene Sharpr-MPRA regulatory region 5800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179564049-179564548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179634210-179635002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16761 Neighboring gene uncharacterized LOC124901218 Neighboring gene ribosomal protein S8 pseudogene 7

    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. Natural selection at the RASGEF1C (GGC) repeat in human and divergent genotypes in late-onset neurocognitive disorder. Jafarian Z, et al. Sci Rep, 2021 Sep 28. PMID 34584172, Free PMC Article
    2. Rap1 and Rap2 antagonistically control endothelial barrier resistance. Pannekoek WJ, et al. PLoS One, 2013. PMID 23469100, Free PMC Article
    3. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. Giannone RJ, et al. PLoS One, 2010 Aug 25. PMID 20811636, Free PMC Article
    4. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, Free PMC Article
    5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Natural selection at the RASGEF1C (GGC) repeat in human and divergent genotypes in late-onset neurocognitive disorder.
      Title: Natural selection at the RASGEF1C (GGC) repeat in human and divergent genotypes in late-onset neurocognitive disorder.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35841

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    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 1C

    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_175062.4 → NP_778232.2  ras-GEF domain-containing family member 1C

      See identical proteins and their annotated locations for NP_778232.2

      Status: VALIDATED

      Source sequence(s)
      AC104115, AC122713, BC036802, BF967301, BM729117
      Consensus CDS
      CCDS4452.1
      UniProtKB/Swiss-Prot
      D3DWQ7, Q7Z4T0, Q8N431, Q8NA49
      Related
      ENSP00000354963.4, ENST00000361132.9
      Conserved Domains (2) summary
      cd06224
      Location:42 → 160
      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:200 → 447
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      180100795..180209211 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      180655720..180764663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001031799.1: Suppressed sequence

      Description
      NM_001031799.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N431.2 GenPept UniProtKB/Swiss-Prot:Q8N431

    Gene LinkOut

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

    Chemical Information
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