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

Gene ID: 221002, updated on 8-Jul-2021

Summary

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
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
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

See RASGEF1A in Genome Data Viewer
Location:
10q11.21
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (43194535..43267065, complement)
105.20201022 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 VISTA enhancer hs2326 Neighboring gene RET intron 1 enhancer Neighboring gene ret proto-oncogene Neighboring gene chondroitin sulfate N-acetylgalactosaminyltransferase 2 Neighboring gene uncharacterized LOC107984225 Neighboring gene uncharacterized LOC105378271 Neighboring gene long intergenic non-protein coding RNA 2633 Neighboring gene RNA, U6atac small nuclear 11, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
GeneReviews: Not available
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.
GeneReviews: Not available
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37817

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
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 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

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_001282862.2NP_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/Swiss-Prot
    Q8N9B8
    Related
    ENSP00000363583.1, ENST00000374459.5
    Conserved Domains (2) summary
    cd06224
    Location:57184
    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:222470
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  2. NM_145313.4NP_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
    Related
    ENSP00000379155.1, ENST00000395810.6
    Conserved Domains (2) summary
    cd06224
    Location:49176
    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:214462
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005271809.3XP_005271866.1  ras-GEF domain-containing family member 1A isoform X1

    See identical proteins and their annotated locations for XP_005271866.1

    Conserved Domains (2) summary
    pfam00617
    Location:138331
    RasGEF; RasGEF domain
    cl02520
    Location:196
    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_011539500.2XP_011537802.1  ras-GEF domain-containing family member 1A isoform X1

    See identical proteins and their annotated locations for XP_011537802.1

    Conserved Domains (2) summary
    pfam00617
    Location:138331
    RasGEF; RasGEF domain
    cl02520
    Location:196
    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 ...
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