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

    Gene ID: 9138, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGEF1 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41883184..41930141)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44702671..44749424)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42387251..42434293)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42373545-42374103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14685 Neighboring gene ribosomal protein S19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10674 Neighboring gene microRNA 6797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10675 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42388310-42388459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14690 Neighboring gene CD79a molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42398525-42399025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42399985-42400527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42402155-42402655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42407915-42408520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42408521-42409125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42409731-42410335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42424596-42425277 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42426221-42426848 Neighboring gene ETS repressor factor like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42432998-42433498 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:42435363-42435894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42439007-42439506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14695 Neighboring gene Rab acceptor 1 Neighboring gene ATPase Na+/K+ transporting subunit alpha 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10681

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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
     
    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)

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS92626.1
      UniProtKB/TrEMBL
      A0A9L9PYI1, M0QZR4
      Related
      ENSP00000470715.1, ENST00000599846.6
      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
      UniProtKB/TrEMBL
      A0A8V8TP90
      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
      UniProtKB/TrEMBL
      A0A8V8TP90
      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
      UniProtKB/TrEMBL
      A0A2X0SFA4
      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
      UniProtKB/TrEMBL
      A0A8V8TP90
      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
      O00513, Q6NX52, Q8N4J4, Q92888, Q96BF4, Q96F17, Q9BSB1
      UniProtKB/TrEMBL
      A0A2X0SFA4
      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/TrEMBL
      A0A2X0SFA4
      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/TrEMBL
      A0A2X0SFA4
      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: 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_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

      UniProtKB/TrEMBL
      A0A8V8TMH9
    2. XM_047439664.1XP_047295620.1  rho guanine nucleotide exchange factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TP90
    3. XM_047439665.1XP_047295621.1  rho guanine nucleotide exchange factor 1 isoform X4

      UniProtKB/TrEMBL
      A0A8V8TP90
    4. XM_047439663.1XP_047295619.1  rho guanine nucleotide exchange factor 1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TMH9
    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)

    mRNA and Protein(s)

    1. XM_054322576.1XP_054178551.1  rho guanine nucleotide exchange factor 1 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TMH9
    2. XM_054322578.1XP_054178553.1  rho guanine nucleotide exchange factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TP90
    3. XM_054322579.1XP_054178554.1  rho guanine nucleotide exchange factor 1 isoform X4

      UniProtKB/TrEMBL
      A0A8V8TP90
    4. XM_054322577.1XP_054178552.1  rho guanine nucleotide exchange factor 1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TMH9
    5. XM_054322580.1XP_054178555.1  rho guanine nucleotide exchange factor 1 isoform X5