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    ARHGAP26 Rho GTPase activating protein 26 [ Homo sapiens (human) ]

    Gene ID: 23092, updated on 22-Mar-2017
    Official Symbol
    ARHGAP26provided by HGNC
    Official Full Name
    Rho GTPase activating protein 26provided by HGNC
    Primary source
    HGNC:HGNC:17073
    See related
    Ensembl:ENSG00000145819 MIM:605370; Vega:OTTHUMG00000059705
    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
    GRAF; GRAF1; OPHN1L; OPHN1L1
    Summary
    Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
    Orthologs
    Location:
    5q31.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (142770370..143229007)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (142149881..142608572)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene fibroblast growth factor 1 Neighboring gene long intergenic non-protein coding RNA 1844 Neighboring gene ARHGAP26 antisense RNA 1 Neighboring gene uncharacterized LOC107986457 Neighboring gene ARHGAP26 intronic transcript 1 Neighboring gene nuclear receptor subfamily 3 group C member 1 Neighboring gene ribosomal protein L7 pseudogene 21 Neighboring gene uncharacterized LOC105378208 Neighboring gene RNA, U7 small nuclear 156 pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Juvenile myelomonocytic leukemia
    MedGen: C0349639 OMIM: 607785 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.
    NHGRI GWA Catalog
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by focal adhesion kinase, organism-specific biosystem
      Signaling events mediated by focal adhesion kinase
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ42530, KIAA0621

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nervous system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    rho GTPase-activating protein 26
    Names
    GTPase regulator associated with focal adhesion kinase pp125(FAK)
    oligophrenin-1-like protein

    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.

    Genomic

    1. NG_016711.2 RefSeqGene

      Range
      5015..463642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135608.2NP_001129080.1  rho GTPase-activating protein 26 isoform b

      See identical proteins and their annotated locations for NP_001129080.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC004782, AC008533, AC012630, AI888512, BC068555, BX342449
      Consensus CDS
      CCDS47297.1
      UniProtKB/Swiss-Prot
      Q9UNA1
      UniProtKB/TrEMBL
      A0A0S2Z536
      Related
      ENSP00000367243, OTTHUMP00000070148, ENST00000378004, OTTHUMT00000143807
      Conserved Domains (5) summary
      cd07636
      Location:19225
      BAR_GRAF; The Bin/Amphiphysin/Rvs (BAR) domain of GTPase Regulator Associated with Focal adhesion kinase
      cd12064
      Location:704759
      SH3_GRAF; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase
      cd04374
      Location:364563
      RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
      cd01249
      Location:267371
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:267364
      PH; PH domain
    2. NM_001349547.1NP_001336476.1  rho GTPase-activating protein 26 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AC004782, AC005348, AC008533, AC012630
    3. NM_015071.5NP_055886.1  rho GTPase-activating protein 26 isoform a

      See identical proteins and their annotated locations for NP_055886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC004782, AC008533, AC012630, AF141884, AI888512, BC068555, BX342449
      Consensus CDS
      CCDS4277.1
      UniProtKB/Swiss-Prot
      Q9UNA1
      Related
      ENSP00000274498, OTTHUMP00000066032, ENST00000274498, OTTHUMT00000132744
      Conserved Domains (5) summary
      cd07636
      Location:19225
      BAR_GRAF; The Bin/Amphiphysin/Rvs (BAR) domain of GTPase Regulator Associated with Focal adhesion kinase
      cd12064
      Location:759814
      SH3_GRAF; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase
      cd04374
      Location:364563
      RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
      cd01249
      Location:267371
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:267364
      PH; PH domain

    RNA

    1. NR_146198.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC004782, AC005348, AC008533, AC012630

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      142770370..143229007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268402.4XP_005268459.1  rho GTPase-activating protein 26 isoform X8

      See identical proteins and their annotated locations for XP_005268459.1

      Conserved Domains (5) summary
      cd07636
      Location:19225
      BAR_GRAF; The Bin/Amphiphysin/Rvs (BAR) domain of GTPase Regulator Associated with Focal adhesion kinase
      cd12064
      Location:667722
      SH3_GRAF; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase
      cd04374
      Location:364563
      RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
      cd01249
      Location:267371
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:267364
      PH; PH domain
    2. XM_011537612.2XP_011535914.1  rho GTPase-activating protein 26 isoform X12

      Conserved Domains (3) summary
      cd01249
      Location:310386
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:310388
      PH; PH domain
      cl12013
      Location:94268
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. XM_006714774.3XP_006714837.1  rho GTPase-activating protein 26 isoform X9

      Conserved Domains (4) summary
      cd01249
      Location:310414
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:310407
      PH; PH domain
      cl02570
      Location:407558
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
      cl12013
      Location:94268
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    4. XM_017009247.1XP_016864736.1  rho GTPase-activating protein 26 isoform X1

    5. XM_011537611.2XP_011535913.1  rho GTPase-activating protein 26 isoform X11

      Conserved Domains (4) summary
      cd01249
      Location:310414
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:310407
      PH; PH domain
      cl02570
      Location:407563
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
      cl12013
      Location:94268
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    6. XM_011537610.2XP_011535912.1  rho GTPase-activating protein 26 isoform X10

      Conserved Domains (4) summary
      cd01249
      Location:310414
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:310407
      PH; PH domain
      cl02570
      Location:407558
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
      cl12013
      Location:94268
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    7. XM_005268398.4XP_005268455.1  rho GTPase-activating protein 26 isoform X2

      Conserved Domains (5) summary
      cd12064
      Location:802857
      SH3_GRAF; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase
      cd04374
      Location:407606
      RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
      cd01249
      Location:310414
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:310407
      PH; PH domain
      cl12013
      Location:94268
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    8. XM_017009249.1XP_016864738.1  rho GTPase-activating protein 26 isoform X4

    9. XM_017009248.1XP_016864737.1  rho GTPase-activating protein 26 isoform X3

    10. XM_017009250.1XP_016864739.1  rho GTPase-activating protein 26 isoform X7

      Conserved Domains (4) summary
      cd04374
      Location:407606
      RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
      cd01249
      Location:310414
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:310407
      PH; PH domain
      cl12013
      Location:94268
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    11. XM_005268400.4XP_005268457.1  rho GTPase-activating protein 26 isoform X6

      Conserved Domains (5) summary
      cd12064
      Location:710765
      SH3_GRAF; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase
      cd04374
      Location:407606
      RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
      cd01249
      Location:310414
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:310407
      PH; PH domain
      cl12013
      Location:94268
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    12. XM_005268399.4XP_005268456.1  rho GTPase-activating protein 26 isoform X5

      Conserved Domains (5) summary
      cd12064
      Location:747802
      SH3_GRAF; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase
      cd04374
      Location:407606
      RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
      cd01249
      Location:310414
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:310407
      PH; PH domain
      cl12013
      Location:94268
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RNA

    1. XR_944312.2 RNA Sequence

    2. XR_944311.2 RNA Sequence

    3. XR_001742045.1 RNA Sequence

    4. XR_001742044.1 RNA Sequence

    5. XR_001742047.1 RNA Sequence

    6. XR_944314.2 RNA Sequence

    7. XR_001742046.1 RNA Sequence

    8. XR_944313.2 RNA Sequence

    9. XR_944315.2 RNA Sequence

    10. XR_944317.2 RNA Sequence

    11. XR_001742048.1 RNA Sequence

    12. XR_944321.2 RNA Sequence

    13. XR_944320.2 RNA Sequence

    14. XR_944319.2 RNA Sequence

    15. XR_944323.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      141583958..142042097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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