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O43182

- RHG06_HUMAN

UniProt

O43182 - RHG06_HUMAN

Protein

Rho GTPase-activating protein 6

Gene

ARHGAP6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 3 (03 Oct 2006)
      Previous versions | rss
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    Functioni

    GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell morphology.1 Publication

    GO - Molecular functioni

    1. phospholipase activator activity Source: BHF-UCL
    2. phospholipase binding Source: BHF-UCL
    3. Rho GTPase activator activity Source: BHF-UCL
    4. SH3/SH2 adaptor activity Source: ProtInc

    GO - Biological processi

    1. actin filament polymerization Source: UniProtKB
    2. activation of phospholipase C activity Source: BHF-UCL
    3. focal adhesion assembly Source: Ensembl
    4. negative regulation of focal adhesion assembly Source: BHF-UCL
    5. negative regulation of stress fiber assembly Source: BHF-UCL
    6. positive regulation of phospholipase activity Source: BHF-UCL
    7. positive regulation of signal transduction Source: GOC
    8. regulation of GTPase activity Source: BHF-UCL
    9. regulation of small GTPase mediated signal transduction Source: Reactome
    10. Rho protein signal transduction Source: UniProtKB
    11. 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 6
    Alternative name(s):
    Rho-type GTPase-activating protein 6
    Rho-type GTPase-activating protein RhoGAPX-1
    Gene namesi
    Name:ARHGAP6
    Synonyms:RHOGAP6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:676. ARHGAP6.

    Subcellular locationi

    Cytoplasm 1 Publication

    GO - Cellular componenti

    1. actin cytoskeleton Source: BHF-UCL
    2. actin filament Source: UniProtKB
    3. cytoplasm Source: BHF-UCL
    4. cytosol Source: Reactome

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24960.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 974974Rho GTPase-activating protein 6PRO_0000056704Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei264 – 2641Phosphoserine1 Publication
    Modified residuei673 – 6731Phosphoserine1 Publication
    Modified residuei777 – 7771Phosphoserine1 Publication
    Modified residuei939 – 9391Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO43182.
    PaxDbiO43182.
    PRIDEiO43182.

    PTM databases

    PhosphoSiteiO43182.

    Expressioni

    Tissue specificityi

    Highly expressed in kidney, heart and skeletal muscle followed by retina, lymphoblast, placenta, lung, brain, pancreas and liver.

    Gene expression databases

    ArrayExpressiO43182.
    BgeeiO43182.
    CleanExiHS_ARHGAP6.
    GenevestigatoriO43182.

    Organism-specific databases

    HPAiHPA036779.

    Interactioni

    Protein-protein interaction databases

    BioGridi106888. 1 interaction.
    STRINGi9606.ENSP00000338967.

    Structurei

    3D structure databases

    ProteinModelPortaliO43182.
    SMRiO43182. Positions 404-605.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini401 – 602202Rho-GAPPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi342 – 35211SH3-bindingAdd
    BLAST

    Sequence similaritiesi

    Contains 1 Rho-GAP domain.PROSITE-ProRule annotation

    Keywords - Domaini

    SH3-binding

    Phylogenomic databases

    eggNOGiNOG276736.
    HOGENOMiHOG000231644.
    HOVERGENiHBG067762.
    InParanoidiO43182.
    OMAiLRLFKQC.
    OrthoDBiEOG7FJH1S.
    PhylomeDBiO43182.
    TreeFamiTF316710.

    Family and domain databases

    Gene3Di1.10.555.10. 2 hits.
    InterProiIPR008936. Rho_GTPase_activation_prot.
    IPR000198. RhoGAP_dom.
    [Graphical view]
    PfamiPF00620. RhoGAP. 1 hit.
    [Graphical view]
    SMARTiSM00324. RhoGAP. 1 hit.
    [Graphical view]
    SUPFAMiSSF48350. SSF48350. 1 hit.
    PROSITEiPS50238. RHOGAP. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 3 (identifier: O43182-1) [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

    MSAQSLLHSV FSCSSPASSS AASAKGFSKR KLRQTRSLDP ALIGGCGSDE    50
    AGAEGSARGA TAGRLYSPSL PAESLGPRLA SSSRGPPPRA TRLPPPGPLC 100
    SSFSTPSTPQ EKSPSGSFHF DYEVPLGRGG LKKSMAWDLP SVLAGPASSR 150
    SASSILCSSG GGPNGIFASP RRWLQQRKFQ SPPDSRGHPY VVWKSEGDFT 200
    WNSMSGRSVR LRSVPIQSLS ELERARLQEV AFYQLQQDCD LSCQITIPKD 250
    GQKRKKSLRK KLDSLGKEKN KDKEFIPQAF GMPLSQVIAN DRAYKLKQDL 300
    QRDEQKDASD FVASLLPFGN KRQNKELSSS NSSLSSTSET PNESTSPNTP 350
    EPAPRARRRG AMSVDSITDL DDNQSRLLEA LQLSLPAEAQ SKKEKARDKK 400
    LSLNPIYRQV PRLVDSCCQH LEKHGLQTVG IFRVGSSKKR VRQLREEFDR 450
    GIDVSLEEEH SVHDVAALLK EFLRDMPDPL LTRELYTAFI NTLLLEPEEQ 500
    LGTLQLLIYL LPPCNCDTLH RLLQFLSIVA RHADDNISKD GQEVTGNKMT 550
    SLNLATIFGP NLLHKQKSSD KEFSVQSSAR AEESTAIIAV VQKMIENYEA 600
    LFMVPPDLQN EVLISLLETD PDVVDYLLRR KASQSSSPDM LQSEVSFSVG 650
    GRHSSTDSNK ASSGDISPYD NNSPVLSERS LLAMQEDAAP GGSEKLYRVP 700
    GQFMLVGHLS SSKSRESSPG PRLGKDLSEE PFDIWGTWHS TLKSGSKDPG 750
    MTGSSGDIFE SSSLRAGPCS LSQGNLSPNW PRWQGSPAEL DSDTQGARRT 800
    QAAAPATEGR AHPAVSRACS TPHVQVAGKA ERPTARSEQY LTLSGAHDLS 850
    ESELDVAGLQ SRATPQCQRP HGSGRDDKRP PPPYPGPGKP AAAAAWIQGP 900
    PEGVETPTDQ GGQAAEREQQ VTQKKLSSAN SLPAGEQDSP RLGDAGWLDW 950
    QRERWQIWEL LSTDNPDALP ETLV 974
    Length:974
    Mass (Da):105,947
    Last modified:October 3, 2006 - v3
    Checksum:iBEE22EB54F019E30
    GO
    Isoform 1 (identifier: O43182-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         726-765: DLSEEPFDIW...GDIFESSSLR → GNWSLASRRW...SSSLPYLMFL
         766-974: Missing.

    Show »
    Length:765
    Mass (Da):83,926
    Checksum:i992B50A957E7019E
    GO
    Isoform 2 (identifier: O43182-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         196-196: E → ELELYDLQILGTKPPMNSDTHRNFDPTATLRNQ
         637-658: SPDMLQSEVSFSVGGRHSSTDS → TSSVLPAAVQACPQYPASMFTP
         659-974: Missing.

    Show »
    Length:690
    Mass (Da):75,918
    Checksum:iEE1801C208E48DB9
    GO
    Isoform 4 (identifier: O43182-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-203: Missing.

    Show »
    Length:771
    Mass (Da):84,844
    Checksum:iA7CAEADB29590AAF
    GO
    Isoform 5 (identifier: O43182-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-203: Missing.
         726-765: DLSEEPFDIW...GDIFESSSLR → GNWSLASRRW...SSSLPYLMFL
         766-974: Missing.

    Show »
    Length:562
    Mass (Da):62,822
    Checksum:i96707FB1D7CBFC62
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti231 – 2311A → P in AAF43261. (PubMed:10699171)Curated
    Sequence conflicti231 – 2311A → P in AAD55087. (PubMed:10699171)Curated
    Sequence conflicti231 – 2311A → P in AAC98539. (PubMed:9417914)Curated
    Sequence conflicti231 – 2311A → P in AAC98540. (PubMed:9417914)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti791 – 7911D → E.1 Publication
    Corresponds to variant rs1009758 [ dbSNP | Ensembl ].
    VAR_024453

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 203203Missing in isoform 4 and isoform 5. 1 PublicationVSP_001637Add
    BLAST
    Alternative sequencei196 – 1961E → ELELYDLQILGTKPPMNSDT HRNFDPTATLRNQ in isoform 2. 1 PublicationVSP_001638
    Alternative sequencei637 – 65822SPDML…SSTDS → TSSVLPAAVQACPQYPASMF TP in isoform 2. 1 PublicationVSP_001639Add
    BLAST
    Alternative sequencei659 – 974316Missing in isoform 2. 1 PublicationVSP_001640Add
    BLAST
    Alternative sequencei726 – 76540DLSEE…SSSLR → GNWSLASRRWPKQATLLLLH VAWCGALRTFSSSLPYLMFL in isoform 1 and isoform 5. 2 PublicationsVSP_001641Add
    BLAST
    Alternative sequencei766 – 974209Missing in isoform 1 and isoform 5. 2 PublicationsVSP_001642Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF117067 mRNA. Translation: AAF43261.1.
    AF177663 mRNA. Translation: AAD53166.1.
    AF177665 mRNA. Translation: AAD55087.1.
    AF012272 mRNA. Translation: AAC98539.2.
    AF022212 mRNA. Translation: AAC98540.2.
    BC150635 mRNA. Translation: AAI50636.1.
    CCDSiCCDS14140.1. [O43182-1]
    CCDS14141.1. [O43182-4]
    CCDS14142.1. [O43182-2]
    PIRiE59434.
    RefSeqiNP_001274171.1. NM_001287242.1.
    NP_006116.2. NM_006125.2. [O43182-2]
    NP_038267.1. NM_013423.2. [O43182-4]
    NP_038286.2. NM_013427.2. [O43182-1]
    UniGeneiHs.435291.

    Genome annotation databases

    EnsembliENST00000303025; ENSP00000302312; ENSG00000047648. [O43182-4]
    ENST00000337414; ENSP00000338967; ENSG00000047648. [O43182-1]
    ENST00000380718; ENSP00000370094; ENSG00000047648. [O43182-2]
    ENST00000380736; ENSP00000370112; ENSG00000047648. [O43182-4]
    ENST00000495242; ENSP00000435767; ENSG00000047648. [O43182-3]
    GeneIDi395.
    KEGGihsa:395.
    UCSCiuc004cum.1. human. [O43182-1]
    uc004cur.1. human. [O43182-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF117067 mRNA. Translation: AAF43261.1 .
    AF177663 mRNA. Translation: AAD53166.1 .
    AF177665 mRNA. Translation: AAD55087.1 .
    AF012272 mRNA. Translation: AAC98539.2 .
    AF022212 mRNA. Translation: AAC98540.2 .
    BC150635 mRNA. Translation: AAI50636.1 .
    CCDSi CCDS14140.1. [O43182-1 ]
    CCDS14141.1. [O43182-4 ]
    CCDS14142.1. [O43182-2 ]
    PIRi E59434.
    RefSeqi NP_001274171.1. NM_001287242.1.
    NP_006116.2. NM_006125.2. [O43182-2 ]
    NP_038267.1. NM_013423.2. [O43182-4 ]
    NP_038286.2. NM_013427.2. [O43182-1 ]
    UniGenei Hs.435291.

    3D structure databases

    ProteinModelPortali O43182.
    SMRi O43182. Positions 404-605.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106888. 1 interaction.
    STRINGi 9606.ENSP00000338967.

    PTM databases

    PhosphoSitei O43182.

    Proteomic databases

    MaxQBi O43182.
    PaxDbi O43182.
    PRIDEi O43182.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303025 ; ENSP00000302312 ; ENSG00000047648 . [O43182-4 ]
    ENST00000337414 ; ENSP00000338967 ; ENSG00000047648 . [O43182-1 ]
    ENST00000380718 ; ENSP00000370094 ; ENSG00000047648 . [O43182-2 ]
    ENST00000380736 ; ENSP00000370112 ; ENSG00000047648 . [O43182-4 ]
    ENST00000495242 ; ENSP00000435767 ; ENSG00000047648 . [O43182-3 ]
    GeneIDi 395.
    KEGGi hsa:395.
    UCSCi uc004cum.1. human. [O43182-1 ]
    uc004cur.1. human. [O43182-2 ]

    Organism-specific databases

    CTDi 395.
    GeneCardsi GC0XM011155.
    HGNCi HGNC:676. ARHGAP6.
    HPAi HPA036779.
    MIMi 300118. gene.
    neXtProti NX_O43182.
    PharmGKBi PA24960.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG276736.
    HOGENOMi HOG000231644.
    HOVERGENi HBG067762.
    InParanoidi O43182.
    OMAi LRLFKQC.
    OrthoDBi EOG7FJH1S.
    PhylomeDBi O43182.
    TreeFami TF316710.

    Enzyme and pathway databases

    Reactomei REACT_11051. Rho GTPase cycle.

    Miscellaneous databases

    GenomeRNAii 395.
    NextBioi 1649.
    PROi O43182.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43182.
    Bgeei O43182.
    CleanExi HS_ARHGAP6.
    Genevestigatori O43182.

    Family and domain databases

    Gene3Di 1.10.555.10. 2 hits.
    InterProi IPR008936. Rho_GTPase_activation_prot.
    IPR000198. RhoGAP_dom.
    [Graphical view ]
    Pfami PF00620. RhoGAP. 1 hit.
    [Graphical view ]
    SMARTi SM00324. RhoGAP. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48350. SSF48350. 1 hit.
    PROSITEi PS50238. RHOGAP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA."
      Prakash S.K., Paylor R., Jenna S., Lamarche-Vane N., Armstrong D.L., Xu B., Mancini M.A., Zoghbi H.Y.
      Hum. Mol. Genet. 9:477-488(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3; 4 AND 5), SEQUENCE REVISION, FUNCTION, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING.
      Tissue: Fetal kidney.
    2. "Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects."
      Schaefer L., Prakash S.K., Zoghbi H.Y.
      Genomics 46:268-277(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    3. "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 3), VARIANT GLU-791.
    4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-264; SER-673; SER-777 AND SER-939, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiRHG06_HUMAN
    AccessioniPrimary (citable) accession number: O43182
    Secondary accession number(s): B2RWQ0
    , O43437, Q9P1B3, Q9UK81, Q9UK82
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: October 3, 2006
    Last modified: October 1, 2014
    This is version 137 of the entry and version 3 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

    Miscellaneous

    ARHGAP6 gene undergoes X inactivation.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3