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ARHGEF1 Rho guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

Gene ID: 9138, updated on 12-Aug-2022

Summary

Official Symbol
ARHGEF1provided by HGNC
Official Full Name
Rho guanine nucleotide exchange factor 1provided by HGNC
Primary source
HGNC:HGNC:681
See related
Ensembl:ENSG00000076928 MIM:601855; AllianceGenome:HGNC:681
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LSC; GEF1; IMD62; LBCL2; SUB1.5; P115-RHOGEF
Summary
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in spleen (RPKM 68.4), lymph node (RPKM 64.2) and 24 other tissues See more
Orthologs
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Genomic context

See ARHGEF1 in Genome Data Viewer
Location:
19q13.2
Exon count:
36
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41883184..41930141)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44702671..44749424)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42387251..42434293)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S19 Neighboring gene microRNA 6797 Neighboring gene CD79a molecule Neighboring gene ETS repressor factor like Neighboring gene Rab acceptor 1 Neighboring gene ATPase Na+/K+ transporting subunit alpha 3

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
enables RNA binding HDA PubMed 
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
rho guanine nucleotide exchange factor 1
Names
115 kDa guanine nucleotide exchange factor
115-kD protein
Lsc homolog
Rho guanine nucleotide exchange factor (GEF) 1
p115RhoGEF

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_001396000.1NP_001382929.1  rho guanine nucleotide exchange factor 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC243967
    UniProtKB/TrEMBL
    M0QZR4
    Related
    ENSP00000470715.1, ENST00000599846.5
    Conserved Domains (4) summary
    PHA03381
    Location:289431
    PHA03381; tegument protein VP22; Provisional
    cd08755
    Location:52244
    RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
    smart00325
    Location:476660
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd14679
    Location:694818
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
  2. NM_001396002.1NP_001382931.1  rho guanine nucleotide exchange factor 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC010616, AC243967
    Conserved Domains (4) summary
    smart00325
    Location:387571
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    PHA03169
    Location:218382
    PHA03169; hypothetical protein; Provisional
    cd14679
    Location:605729
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    cl02565
    Location:52211
    RGS; Regulator of G protein signaling (RGS) domain superfamily
  3. NM_001396003.1NP_001382932.1  rho guanine nucleotide exchange factor 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC010616, AC243967
    Related
    ENSP00000514042.1, ENST00000698932.1
    Conserved Domains (4) summary
    cd08755
    Location:52244
    RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
    smart00325
    Location:420604
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    PHA03169
    Location:251415
    PHA03169; hypothetical protein; Provisional
    cd14679
    Location:638762
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
  4. NM_001396004.1NP_001382933.1  rho guanine nucleotide exchange factor 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC243967
    Related
    ENSP00000367394.3, ENST00000378152.8
    Conserved Domains (4) summary
    smart00325
    Location:387571
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    PHA03169
    Location:218382
    PHA03169; hypothetical protein; Provisional
    cd14679
    Location:605729
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    cl02565
    Location:52211
    RGS; Regulator of G protein signaling (RGS) domain superfamily
  5. NM_001396006.1NP_001382935.1  rho guanine nucleotide exchange factor 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC243967
    Conserved Domains (4) summary
    cd08755
    Location:52244
    RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
    smart00325
    Location:420604
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    PHA03169
    Location:251415
    PHA03169; hypothetical protein; Provisional
    cd14679
    Location:638762
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
  6. NM_004706.4NP_004697.2  rho guanine nucleotide exchange factor 1 isoform 2

    See identical proteins and their annotated locations for NP_004697.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream start codon, as compared to variant 1. The encoded isoform 2 thus has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC243967, BC005155, BC011726, BM147791
    Consensus CDS
    CCDS12591.1
    UniProtKB/Swiss-Prot
    Q92888, Q9BSB1
    UniProtKB/TrEMBL
    A0A024R0R1
    Related
    ENSP00000346532.3, ENST00000354532.8
    Conserved Domains (4) summary
    pfam05887
    Location:315410
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    cd08755
    Location:52244
    RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
    smart00325
    Location:420604
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd14679
    Location:638762
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
  7. NM_198977.2NP_945328.1  rho guanine nucleotide exchange factor 1 isoform 3

    See identical proteins and their annotated locations for NP_945328.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon and lacks an in-frame internal exon, as compared to variant 1. The encoded isoform 3 thus has a shorter N-terminus and lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC243967, BC011726, BM147791
    Consensus CDS
    CCDS12592.1
    UniProtKB/Swiss-Prot
    Q92888
    Related
    ENSP00000344429.3, ENST00000347545.8
    Conserved Domains (4) summary
    pfam05887
    Location:282377
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    smart00325
    Location:387571
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd14679
    Location:605729
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    cl02565
    Location:52211
    RGS; Regulator of G protein signaling (RGS) domain superfamily
  8. NM_199002.2NP_945353.1  rho guanine nucleotide exchange factor 1 isoform 1

    See identical proteins and their annotated locations for NP_945353.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC011726, BC034013, BQ944132
    Consensus CDS
    CCDS12590.1
    UniProtKB/Swiss-Prot
    Q92888
    Related
    ENSP00000337261.3, ENST00000337665.8
    Conserved Domains (4) summary
    pfam05887
    Location:330425
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    cd08755
    Location:67259
    RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
    smart00325
    Location:435619
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd14679
    Location:653777
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

RNA

  1. NR_135626.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010616
  2. NR_173092.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010616, AC243967
  3. NR_173093.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC243967
    Related
    ENST00000698933.1
  4. NR_173095.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010616
  5. NR_173096.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010616

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    41883184..41930141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439662.1XP_047295618.1  rho guanine nucleotide exchange factor 1 isoform X1

  2. XM_047439664.1XP_047295620.1  rho guanine nucleotide exchange factor 1 isoform X3

  3. XM_047439665.1XP_047295621.1  rho guanine nucleotide exchange factor 1 isoform X4

  4. XM_047439663.1XP_047295619.1  rho guanine nucleotide exchange factor 1 isoform X2

  5. XM_047439666.1XP_047295622.1  rho guanine nucleotide exchange factor 1 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    44702671..44749424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)