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

Gene ID: 255426, updated on 11-Apr-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 regulation of catalytic activity and small GTPase mediated signal transduction. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 6.2), testis (RPKM 3.8) and 2 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (180100795..180209211, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (180655720..180764663, complement)
105.20220307 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)

Genotypes

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_2023_10

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.

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