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Q9UNA1

- RHG26_HUMAN

UniProt

Q9UNA1 - RHG26_HUMAN

Protein

Rho GTPase-activating protein 26

Gene

ARHGAP26

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    GTPase-activating protein for RHOA and CDC42.

    GO - Molecular functioni

    1. phospholipid binding Source: FlyBase
    2. protein binding Source: IntAct
    3. Rho GTPase activator activity Source: UniProtKB

    GO - Biological processi

    1. actin cytoskeleton organization Source: UniProtKB
    2. filopodium assembly Source: InterPro
    3. nervous system development Source: UniProtKB
    4. positive regulation of Rho GTPase activity Source: GOC
    5. regulation of small GTPase mediated signal transduction Source: Reactome
    6. small GTPase mediated signal transduction Source: Reactome

    Keywords - Molecular functioni

    GTPase activation

    Enzyme and pathway databases

    ReactomeiREACT_11051. Rho GTPase cycle.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Rho GTPase-activating protein 26
    Alternative name(s):
    GTPase regulator associated with focal adhesion kinase
    Oligophrenin-1-like protein
    Rho-type GTPase-activating protein 26
    Gene namesi
    Name:ARHGAP26
    Synonyms:GRAF, KIAA0621, OPHN1L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:17073. ARHGAP26.

    Subcellular locationi

    Cell junctionfocal adhesion By similarity. Cytoplasmcytoskeleton By similarity
    Note: Colocalizes with actin stress fibers and cortical actin structures.By similarity

    GO - Cellular componenti

    1. cytoskeleton Source: UniProtKB-SubCell
    2. cytosol Source: Reactome
    3. focal adhesion Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
    Note: The gene represented in this entry is involved in disease pathogenesis. A chromosomal translocation t(5;11)(q31;q23) with KMT2A/MLL1 has been found in leukemic cells from JMML patients, also carrying inactivating mutations on the second allele (PubMed:10908648).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti417 – 4171N → S in JMML; somatic mutation. 1 Publication
    VAR_013623

    Keywords - Diseasei

    Disease mutation, Proto-oncogene

    Organism-specific databases

    MIMi607785. phenotype.
    PharmGKBiPA134946198.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 814814Rho GTPase-activating protein 26PRO_0000056718Add
    BLAST

    Proteomic databases

    MaxQBiQ9UNA1.
    PaxDbiQ9UNA1.
    PRIDEiQ9UNA1.

    PTM databases

    PhosphoSiteiQ9UNA1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UNA1.
    BgeeiQ9UNA1.
    CleanExiHS_ARHGAP26.
    GenevestigatoriQ9UNA1.

    Organism-specific databases

    HPAiHPA035106.
    HPA035107.

    Interactioni

    Subunit structurei

    Interacts with NYAP1, NYAP2 and MYO16 By similarity. Binds to the C-terminus of PTK2/FAK1.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PKN3Q6P5Z24EBI-1390913,EBI-1384335

    Protein-protein interaction databases

    BioGridi116720. 7 interactions.
    IntActiQ9UNA1. 6 interactions.
    MINTiMINT-203139.
    STRINGi9606.ENSP00000274498.

    Structurei

    Secondary structure

    1
    814
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi761 – 7655
    Beta strandi771 – 7744
    Beta strandi782 – 7854
    Beta strandi794 – 8018
    Beta strandi803 – 8075
    Helixi808 – 8103
    Beta strandi811 – 8133

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1UGVNMR-A756-814[»]
    ProteinModelPortaliQ9UNA1.
    SMRiQ9UNA1. Positions 383-573, 754-814.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9UNA1.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini265 – 369105PHPROSITE-ProRule annotationAdd
    BLAST
    Domaini383 – 568186Rho-GAPPROSITE-ProRule annotationAdd
    BLAST
    Domaini756 – 81459SH3PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi584 – 701118Ser-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 PH domain.PROSITE-ProRule annotation
    Contains 1 Rho-GAP domain.PROSITE-ProRule annotation
    Contains 1 SH3 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    SH3 domain

    Phylogenomic databases

    eggNOGiNOG311191.
    HOGENOMiHOG000018767.
    HOVERGENiHBG067993.
    InParanoidiQ9UNA1.
    OMAiKDFGDFK.
    OrthoDBiEOG71VSS5.
    PhylomeDBiQ9UNA1.
    TreeFamiTF316851.

    Family and domain databases

    Gene3Di1.10.555.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProiIPR013606. IRSp53/MIM_homology_IMD.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR008936. Rho_GTPase_activation_prot.
    IPR000198. RhoGAP_dom.
    IPR001452. SH3_domain.
    [Graphical view]
    PfamiPF08397. IMD. 1 hit.
    PF00620. RhoGAP. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view]
    SMARTiSM00233. PH. 1 hit.
    SM00324. RhoGAP. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view]
    SUPFAMiSSF48350. SSF48350. 1 hit.
    SSF50044. SSF50044. 2 hits.
    PROSITEiPS50003. PH_DOMAIN. 1 hit.
    PS50238. RHOGAP. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UNA1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGLPALEFSD CCLDSPHFRE TLKSHEAELD KTNKFIKELI KDGKSLISAL    50
    KNLSSAKRKF ADSLNEFKFQ CIGDAETDDE MCIARSLQEF ATVLRNLEDE 100
    RIRMIENASE VLITPLEKFR KEQIGAAKEA KKKYDKETEK YCGILEKHLN 150
    LSSKKKESQL QEADSQVDLV RQHFYEVSLE YVFKVQEVQE RKMFEFVEPL 200
    LAFLQGLFTF YHHGYELAKD FGDFKTQLTI SIQNTRNRFE GTRSEVESLM 250
    KKMKENPLEH KTISPYTMEG YLYVQEKRHF GTSWVKHYCT YQRDSKQITM 300
    VPFDQKSGGK GGEDESVILK SCTRRKTDSI EKRFCFDVEA VDRPGVITMQ 350
    ALSEEDRRLW MEAMDGREPV YNSNKDSQSE GTAQLDSIGF SIIRKCIHAV 400
    ETRGINEQGL YRIVGVNSRV QKLLSVLMDP KTASETETDI CAEWEIKTIT 450
    SALKTYLRML PGPLMMYQFQ RSFIKAAKLE NQESRVSEIH SLVHRLPEKN 500
    RQMLQLLMNH LANVANNHKQ NLMTVANLGV VFGPTLLRPQ EETVAAIMDI 550
    KFQNIVIEIL IENHEKIFNT VPDMPLTNAQ LHLSRKKSSD SKPPSCSERP 600
    LTLFHTVQST EKQEQRNSII NSSLESVSSN PNSILNSSSS LQPNMNSSDP 650
    DLAVVKPTRP NSLPPNPSPT SPLSPSWPMF SAPSSPMPTS STSSDSSPVR 700
    SVAGFVWFSV AAVVLSLARS SLHAVFSLLV NFVPCHPNLH LLFDRPEEAV 750
    HEDSSTPFRK AKALYACKAE HDSELSFTAG TVFDNVHPSQ EPGWLEGTLN 800
    GKTGLIPENY VEFL 814
    Length:814
    Mass (Da):92,235
    Last modified:May 1, 2000 - v1
    Checksum:i5C81DBDECB32B18A
    GO
    Isoform 2 (identifier: Q9UNA1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         700-754: Missing.

    Show »
    Length:759
    Mass (Da):86,165
    Checksum:i8FA48FDF1DCAFB7F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti355 – 3551E → G in CAA71414. (PubMed:10908648)Curated
    Sequence conflicti355 – 3551E → G in CAC29145. 1 PublicationCurated
    Sequence conflicti355 – 3551E → G in CAC29146. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti417 – 4171N → S in JMML; somatic mutation. 1 Publication
    VAR_013623

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei700 – 75455Missing in isoform 2. 1 PublicationVSP_001659Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF141884 mRNA. Translation: AAD39482.1.
    Y10388 Genomic DNA. Translation: CAA71414.2.
    CH471062 Genomic DNA. Translation: EAW61876.1.
    BC068555 mRNA. Translation: AAH68555.1.
    AJ309466
    , AJ309467, AJ309468, AJ309469, AJ309470, AJ309471, AJ309472, AJ309473, AJ309474, AJ309475, AJ309476, AJ309477, AJ309478, AJ309479, AJ309480, AJ309481, AJ309482, AJ309483, AJ309484, AJ309485, AJ309486, AJ309487 Genomic DNA. Translation: CAC29145.2.
    AJ309466
    , AJ309467, AJ309468, AJ309469, AJ309470, AJ309471, AJ309472, AJ309473, AJ309474, AJ309475, AJ309476, AJ309477, AJ309478, AJ309479, AJ309480, AJ309481, AJ309482, AJ309483, AJ309484, AJ309485, AJ309487 Genomic DNA. Translation: CAC29146.2.
    AB014521 mRNA. Translation: BAA31596.1.
    CCDSiCCDS4277.1. [Q9UNA1-1]
    CCDS47297.1. [Q9UNA1-2]
    PIRiF59430.
    RefSeqiNP_001129080.1. NM_001135608.1. [Q9UNA1-2]
    NP_055886.1. NM_015071.4. [Q9UNA1-1]
    UniGeneiHs.654668.

    Genome annotation databases

    EnsembliENST00000274498; ENSP00000274498; ENSG00000145819. [Q9UNA1-1]
    ENST00000378004; ENSP00000367243; ENSG00000145819. [Q9UNA1-2]
    GeneIDi23092.
    KEGGihsa:23092.
    UCSCiuc003lmt.3. human. [Q9UNA1-2]
    uc011dbj.2. human. [Q9UNA1-1]

    Polymorphism databases

    DMDMi21759332.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia

    Graf1 entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF141884 mRNA. Translation: AAD39482.1 .
    Y10388 Genomic DNA. Translation: CAA71414.2 .
    CH471062 Genomic DNA. Translation: EAW61876.1 .
    BC068555 mRNA. Translation: AAH68555.1 .
    AJ309466
    , AJ309467 , AJ309468 , AJ309469 , AJ309470 , AJ309471 , AJ309472 , AJ309473 , AJ309474 , AJ309475 , AJ309476 , AJ309477 , AJ309478 , AJ309479 , AJ309480 , AJ309481 , AJ309482 , AJ309483 , AJ309484 , AJ309485 , AJ309486 , AJ309487 Genomic DNA. Translation: CAC29145.2 .
    AJ309466
    , AJ309467 , AJ309468 , AJ309469 , AJ309470 , AJ309471 , AJ309472 , AJ309473 , AJ309474 , AJ309475 , AJ309476 , AJ309477 , AJ309478 , AJ309479 , AJ309480 , AJ309481 , AJ309482 , AJ309483 , AJ309484 , AJ309485 , AJ309487 Genomic DNA. Translation: CAC29146.2 .
    AB014521 mRNA. Translation: BAA31596.1 .
    CCDSi CCDS4277.1. [Q9UNA1-1 ]
    CCDS47297.1. [Q9UNA1-2 ]
    PIRi F59430.
    RefSeqi NP_001129080.1. NM_001135608.1. [Q9UNA1-2 ]
    NP_055886.1. NM_015071.4. [Q9UNA1-1 ]
    UniGenei Hs.654668.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1UGV NMR - A 756-814 [» ]
    ProteinModelPortali Q9UNA1.
    SMRi Q9UNA1. Positions 383-573, 754-814.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116720. 7 interactions.
    IntActi Q9UNA1. 6 interactions.
    MINTi MINT-203139.
    STRINGi 9606.ENSP00000274498.

    PTM databases

    PhosphoSitei Q9UNA1.

    Polymorphism databases

    DMDMi 21759332.

    Proteomic databases

    MaxQBi Q9UNA1.
    PaxDbi Q9UNA1.
    PRIDEi Q9UNA1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000274498 ; ENSP00000274498 ; ENSG00000145819 . [Q9UNA1-1 ]
    ENST00000378004 ; ENSP00000367243 ; ENSG00000145819 . [Q9UNA1-2 ]
    GeneIDi 23092.
    KEGGi hsa:23092.
    UCSCi uc003lmt.3. human. [Q9UNA1-2 ]
    uc011dbj.2. human. [Q9UNA1-1 ]

    Organism-specific databases

    CTDi 23092.
    GeneCardsi GC05P142130.
    H-InvDB HIX0005269.
    HGNCi HGNC:17073. ARHGAP26.
    HPAi HPA035106.
    HPA035107.
    MIMi 605370. gene.
    607785. phenotype.
    neXtProti NX_Q9UNA1.
    PharmGKBi PA134946198.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG311191.
    HOGENOMi HOG000018767.
    HOVERGENi HBG067993.
    InParanoidi Q9UNA1.
    OMAi KDFGDFK.
    OrthoDBi EOG71VSS5.
    PhylomeDBi Q9UNA1.
    TreeFami TF316851.

    Enzyme and pathway databases

    Reactomei REACT_11051. Rho GTPase cycle.

    Miscellaneous databases

    ChiTaRSi ARHGAP26. human.
    EvolutionaryTracei Q9UNA1.
    GeneWikii ARHGAP26.
    GenomeRNAii 23092.
    NextBioi 44247.
    PROi Q9UNA1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UNA1.
    Bgeei Q9UNA1.
    CleanExi HS_ARHGAP26.
    Genevestigatori Q9UNA1.

    Family and domain databases

    Gene3Di 1.10.555.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProi IPR013606. IRSp53/MIM_homology_IMD.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR008936. Rho_GTPase_activation_prot.
    IPR000198. RhoGAP_dom.
    IPR001452. SH3_domain.
    [Graphical view ]
    Pfami PF08397. IMD. 1 hit.
    PF00620. RhoGAP. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view ]
    SMARTi SM00233. PH. 1 hit.
    SM00324. RhoGAP. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48350. SSF48350. 1 hit.
    SSF50044. SSF50044. 2 hits.
    PROSITEi PS50003. PH_DOMAIN. 1 hit.
    PS50238. RHOGAP. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of human oligophrenin-1 like (OPHN1L) gene, complete CDS."
      Xia J.H., Tang X.X., Yu K.P., Pan Q., Dai H.P.
      Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Heart, Liver and Placenta.
    2. "The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q."
      Borkhardt A., Bojesen S., Haas O.A., Fuchs U., Bartelheimer D., Loncarevic I.F., Bohle R.M., Harbott J., Repp R., Jaeger U., Viehmann S., Henn T., Korth P., Scharr D., Lampert F.
      Proc. Natl. Acad. Sci. U.S.A. 97:9168-9173(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), DISEASE, VARIANT LEUKEMIA SER-417.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Placenta.
    5. "Genomic structure of the human GRAF gene."
      Bojesen S.E., Link C., Borkhardt A.
      Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 53-785.
    6. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 62-814 (ISOFORM 1).
      Tissue: Brain.
    7. "Solution structure of the SH3 domain of human oligophrenin-1-like protein (KIAA0621)."
      RIKEN structural genomics initiative (RSGI)
      Submitted (DEC-2003) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 754-814.

    Entry informationi

    Entry nameiRHG26_HUMAN
    AccessioniPrimary (citable) accession number: Q9UNA1
    Secondary accession number(s): O75117
    , Q5D035, Q9BYS6, Q9BYS7, Q9UJ00
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2002
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 142 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3