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

Gene ID: 23092, updated on 11-Sep-2019

Summary

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
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]
Expression
Ubiquitous expression in brain (RPKM 7.0), gall bladder (RPKM 4.5) and 24 other tissues See more
Orthologs

Genomic context

See ARHGAP26 in Genome Data Viewer
Location:
5q31.3
Exon count:
36
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (142770370..143229011)
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 FGF1 promoter B 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 Sharpr-MPRA regulatory region 10277

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?

Phenotypes

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

Pathways from BioSystems

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42530, KIAA0621

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity NAS
Non-traceable Author Statement
more info
PubMed 
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
 

General protein information

Preferred Names
rho GTPase-activating protein 26
Names
GTPase regulator associated with focal adhesion kinase pp125(FAK)
oligophrenin-1-like protein

NCBI Reference Sequences (RefSeq)

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
    5008..463642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1127

mRNA and Protein(s)

  1. NM_001135608.3NP_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
    ENSP00000495131.1, ENST00000645722.2
    Conserved Domains (4) 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
  2. NM_001349547.2NP_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
    Consensus CDS
    CCDS87332.1
    Related
    ENSP00000495827.1, ENST00000642734.1
    Conserved Domains (4) summary
    cd12064
    Location:631686
    SH3_GRAF; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase
    cd04374
    Location:328527
    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 cytoskeletal ...
    cd01249
    Location:231335
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    cl12013
    Location:15189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. NM_015071.6NP_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
    ENSP00000274498.4, ENST00000274498.9
    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_146198.2 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 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    142770370..143229011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268402.4XP_005268459.1  rho GTPase-activating protein 26 isoform X7

    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_017009247.2XP_016864736.2  rho GTPase-activating protein 26 isoform X1

    Conserved Domains (3) summary
    cd04374
    Location:328527
    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 cytoskeletal ...
    cd01249
    Location:231335
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    cl12013
    Location:15189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_017009249.2XP_016864738.2  rho GTPase-activating protein 26 isoform X4

    Conserved Domains (3) summary
    cd04374
    Location:328527
    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 cytoskeletal ...
    cd01249
    Location:231335
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    cl12013
    Location:15189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. XM_005268398.5XP_005268455.2  rho GTPase-activating protein 26 isoform X2

    Conserved Domains (4) summary
    cd12064
    Location:723778
    SH3_GRAF; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase
    cd04374
    Location:328527
    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 cytoskeletal ...
    cd01249
    Location:231335
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    cl12013
    Location:15189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  5. XM_017009248.2XP_016864737.2  rho GTPase-activating protein 26 isoform X3

    Conserved Domains (4) summary
    cd12064
    Location:678733
    SH3_GRAF; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase
    cd04374
    Location:328527
    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 cytoskeletal ...
    cd01249
    Location:231335
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    cl12013
    Location:15189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  6. XM_005268399.5XP_005268456.2  rho GTPase-activating protein 26 isoform X5

    Conserved Domains (4) summary
    cd12064
    Location:668723
    SH3_GRAF; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase
    cd04374
    Location:328527
    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 cytoskeletal ...
    cd01249
    Location:231335
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    cl12013
    Location:15189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  7. XM_017009250.2XP_016864739.2  rho GTPase-activating protein 26 isoform X6

    Conserved Domains (3) summary
    cd04374
    Location:328527
    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 cytoskeletal ...
    cd01249
    Location:231335
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    cl12013
    Location:15189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  8. XM_011537611.3XP_011535913.2  rho GTPase-activating protein 26 isoform X10

    Conserved Domains (3) summary
    cd01249
    Location:231335
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    cl02570
    Location:328484
    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 bound to ...
    cl12013
    Location:15189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  9. XM_006714774.4XP_006714837.2  rho GTPase-activating protein 26 isoform X8

    Conserved Domains (3) summary
    cd01249
    Location:231335
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    cl02570
    Location:328479
    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 bound to ...
    cl12013
    Location:15189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  10. XM_011537610.3XP_011535912.2  rho GTPase-activating protein 26 isoform X9

    Conserved Domains (3) summary
    cd01249
    Location:231335
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    cl02570
    Location:328479
    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 bound to ...
    cl12013
    Location:15189
    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_001742047.2 RNA Sequence

  3. XR_944311.3 RNA Sequence

  4. XR_944315.3 RNA Sequence

  5. XR_944314.3 RNA Sequence

  6. XR_944320.3 RNA Sequence

  7. XR_001742048.2 RNA Sequence

  8. XR_001742044.2 RNA Sequence

  9. XR_001742045.2 RNA Sequence

  10. XR_944313.3 RNA Sequence

  11. XR_001742046.2 RNA Sequence

  12. XR_944317.3 RNA Sequence

  13. XR_944321.3 RNA Sequence

  14. XR_944319.3 RNA Sequence

  15. XR_944323.1 RNA Sequence

  16. XR_002956154.1 RNA Sequence

  17. XR_002956155.1 RNA Sequence

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