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Q15052

- ARHG6_HUMAN

UniProt

Q15052 - ARHG6_HUMAN

Protein

Rho guanine nucleotide exchange factor 6

Gene

ARHGEF6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 162 (01 Oct 2014)
      Sequence version 2 (26 Sep 2001)
      Previous versions | rss
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    Functioni

    Acts as a RAC1 guanine nucleotide exchange factor (GEF).

    GO - Molecular functioni

    1. GTPase activator activity Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. Rho guanyl-nucleotide exchange factor activity Source: UniProtKB

    GO - Biological processi

    1. apoptotic process Source: UniProtKB
    2. apoptotic signaling pathway Source: Reactome
    3. cell junction assembly Source: Reactome
    4. JNK cascade Source: UniProtKB
    5. lamellipodium assembly Source: UniProtKB
    6. neurotrophin TRK receptor signaling pathway Source: Reactome
    7. positive regulation of apoptotic process Source: Reactome
    8. positive regulation of GTPase activity Source: GOC
    9. positive regulation of Rho GTPase activity Source: GOC
    10. regulation of small GTPase mediated signal transduction Source: Reactome
    11. small GTPase mediated signal transduction Source: Reactome

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Enzyme and pathway databases

    ReactomeiREACT_11051. Rho GTPase cycle.
    REACT_13638. NRAGE signals death through JNK.
    REACT_18407. G alpha (12/13) signalling events.
    REACT_20580. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Rho guanine nucleotide exchange factor 6
    Alternative name(s):
    Alpha-Pix
    COOL-2
    PAK-interacting exchange factor alpha
    Rac/Cdc42 guanine nucleotide exchange factor 6
    Gene namesi
    Name:ARHGEF6
    Synonyms:COOL2, KIAA0006, PIXA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:685. ARHGEF6.

    Subcellular locationi

    Cell projectionlamellipodium By similarity

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. intracellular Source: UniProtKB
    3. lamellipodium Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, X-linked 46 (MRX46) [MIM:300436]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Mental retardation

    Organism-specific databases

    MIMi300436. phenotype.
    Orphaneti777. X-linked non-syndromic intellectual disability.
    PharmGKBiPA24976.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 776776Rho guanine nucleotide exchange factor 6PRO_0000080917Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei126 – 1261Phosphoserine1 Publication
    Modified residuei144 – 1441Phosphoserine1 Publication
    Modified residuei150 – 1501Phosphoserine2 Publications
    Modified residuei488 – 4881PhosphoserineBy similarity
    Modified residuei640 – 6401Phosphoserine1 Publication
    Modified residuei684 – 6841Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ15052.
    PaxDbiQ15052.
    PRIDEiQ15052.

    PTM databases

    PhosphoSiteiQ15052.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiQ15052.
    BgeeiQ15052.
    CleanExiHS_ARHGEF6.
    GenevestigatoriQ15052.

    Organism-specific databases

    HPAiHPA003578.

    Interactioni

    Subunit structurei

    Interacts with PAK kinases through the SH3 domain. Interacts with GIT1. Component of cytoplasmic complexes, which also contain PXN, GIT1 and PAK1 By similarity. Interacts with PARVB. Interacts with BIN2. Identified in a complex with BIN2 and GIT2.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NAA10P412273EBI-1642523,EBI-747693
    PAK2Q131772EBI-1642523,EBI-1045887
    SH2D1AO608802EBI-1642523,EBI-6983382

    Protein-protein interaction databases

    BioGridi114847. 18 interactions.
    IntActiQ15052. 16 interactions.
    MINTiMINT-2791937.
    STRINGi9606.ENSP00000250617.

    Structurei

    Secondary structure

    1
    776
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi4 – 1411
    Helixi27 – 3711
    Helixi39 – 4810
    Helixi63 – 8018
    Helixi87 – 915
    Helixi96 – 11015
    Beta strandi163 – 1664
    Beta strandi187 – 1915
    Beta strandi194 – 1963
    Beta strandi198 – 2025
    Beta strandi205 – 2095
    Turni211 – 2133
    Beta strandi214 – 2163
    Helixi219 – 2224

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1UJYNMR-A160-222[»]
    1WYRNMR-A4-111[»]
    ProteinModelPortaliQ15052.
    SMRiQ15052. Positions 4-111, 154-552, 711-762.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ15052.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 110110CHPROSITE-ProRule annotationAdd
    BLAST
    Domaini160 – 21960SH3PROSITE-ProRule annotationAdd
    BLAST
    Domaini241 – 421181DHPROSITE-ProRule annotationAdd
    BLAST
    Domaini443 – 548106PHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 CH (calponin-homology) domain.PROSITE-ProRule annotation
    Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
    Contains 1 PH domain.PROSITE-ProRule annotation
    Contains 1 SH3 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    SH3 domain

    Phylogenomic databases

    eggNOGiNOG314429.
    HOGENOMiHOG000231381.
    HOVERGENiHBG050569.
    InParanoidiQ15052.
    KOiK05729.
    OMAiNKATEDQ.
    OrthoDBiEOG708W04.
    PhylomeDBiQ15052.
    TreeFamiTF316105.

    Family and domain databases

    Gene3Di1.10.418.10. 1 hit.
    1.20.900.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProiIPR001715. CH-domain.
    IPR000219. DH-domain.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR001452. SH3_domain.
    IPR003096. SM22_calponin.
    [Graphical view]
    PfamiPF00307. CH. 1 hit.
    PF00169. PH. 1 hit.
    PF00621. RhoGEF. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view]
    PRINTSiPR00452. SH3DOMAIN.
    PR00888. SM22CALPONIN.
    SMARTiSM00033. CH. 1 hit.
    SM00233. PH. 1 hit.
    SM00325. RhoGEF. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view]
    SUPFAMiSSF47576. SSF47576. 1 hit.
    SSF48065. SSF48065. 1 hit.
    SSF50044. SSF50044. 1 hit.
    PROSITEiPS50021. CH. 1 hit.
    PS50010. DH_2. 1 hit.
    PS50003. PH_DOMAIN. 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: Q15052-1) [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

    MNPEEQIVTW LISLGVLESP KKTICDPEEF LKSSLKNGVV LCKLINRLMP    50
    GSVEKFCLDP QTEADCINNI NDFLKGCATL QVEIFDPDDL YSGVNFSKVL 100
    STLLAVNKAT EDQLSERPCG RSSSLSAANT SQTNPQGAVS STVSGLQRQS 150
    KTVEMTENGS HQLIVKARFN FKQTNEDELS VCKGDIIYVT RVEEGGWWEG 200
    TLNGRTGWFP SNYVREIKSS ERPLSPKAVK GFETAPLTKN YYTVVLQNIL 250
    DTEKEYAKEL QSLLVTYLRP LQSNNNLSTV EVTSLLGNFE EVCTFQQTLC 300
    QALEECSKFP ENQHKVGGCL LSLMPHFKSM YLAYCANHPS AVNVLTQHSD 350
    ELEQFMENQG ASSPGILILT TNLSKPFMRL EKYVTLLQEL ERHMEDTHPD 400
    HQDILKAIVA FKTLMGQCQD LRKRKQLELQ ILSEPIQAWE GEDIKNLGNV 450
    IFMSQVMVQY GACEEKEERY LMLFSNVLIM LSASPRMSGF IYQGKIPIAG 500
    TVVTRLDEIE GNDCTFEITG NTVERIVVHC NNNQDFQEWL EQLNRLIRGP 550
    ASCSSLSKTS SSSCSAHSSF SSTGQPRGPL EPPQIIKPWS LSCLRPAPPL 600
    RPSAALGYKE RMSYILKESS KSPKTMKKFL HKRKTERKPS EEEYVIRKST 650
    AALEEDAQIL KVIEAYCTSA NFQQGHGSST RKDSIPQVLL PEEEKLIIEE 700
    TRSNGQTIME EKSLVDTVYA LKDEVRELKQ ENKRMKQCLE EELKSRRDLE 750
    KLVRRLLKQT DECIRGESSS KTSILP 776
    Length:776
    Mass (Da):87,499
    Last modified:September 26, 2001 - v2
    Checksum:i5D2622314E46341B
    GO
    Isoform 2 (identifier: Q15052-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-154: Missing.

    Show »
    Length:622
    Mass (Da):70,791
    Checksum:iB336793DC9A235ED
    GO

    Sequence cautioni

    The sequence BAA02796.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti199 – 1991E → G in CAD97632. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti297 – 2971Q → H.
    Corresponds to variant rs5974620 [ dbSNP | Ensembl ].
    VAR_051981

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 154154Missing in isoform 2. 2 PublicationsVSP_015782Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK291742 mRNA. Translation: BAF84431.1.
    AK294929 mRNA. Translation: BAH11929.1.
    BX537390 mRNA. Translation: CAD97632.1.
    AL683813, AL135783 Genomic DNA. Translation: CAI39443.1.
    AL135783, AL683813 Genomic DNA. Translation: CAI42899.1.
    AL135783 Genomic DNA. Translation: CAI42903.1.
    CH471150 Genomic DNA. Translation: EAW88460.1.
    CH471150 Genomic DNA. Translation: EAW88461.1.
    BC039856 mRNA. Translation: AAH39856.1.
    BC043505 mRNA. Translation: AAH43505.1. Different termination.
    AF207831 mRNA. Translation: AAG27169.1.
    D13631 mRNA. Translation: BAA02796.1. Different initiation.
    D25304 mRNA. Translation: BAA04985.1.
    CCDSiCCDS14660.1. [Q15052-1]
    RefSeqiNP_004831.1. NM_004840.2. [Q15052-1]
    XP_005262558.1. XM_005262501.1. [Q15052-2]
    UniGeneiHs.522795.

    Genome annotation databases

    EnsembliENST00000250617; ENSP00000250617; ENSG00000129675. [Q15052-1]
    ENST00000370620; ENSP00000359654; ENSG00000129675. [Q15052-2]
    ENST00000370622; ENSP00000359656; ENSG00000129675. [Q15052-2]
    GeneIDi9459.
    KEGGihsa:9459.
    UCSCiuc004fab.3. human. [Q15052-1]

    Polymorphism databases

    DMDMi17371603.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK291742 mRNA. Translation: BAF84431.1 .
    AK294929 mRNA. Translation: BAH11929.1 .
    BX537390 mRNA. Translation: CAD97632.1 .
    AL683813 , AL135783 Genomic DNA. Translation: CAI39443.1 .
    AL135783 , AL683813 Genomic DNA. Translation: CAI42899.1 .
    AL135783 Genomic DNA. Translation: CAI42903.1 .
    CH471150 Genomic DNA. Translation: EAW88460.1 .
    CH471150 Genomic DNA. Translation: EAW88461.1 .
    BC039856 mRNA. Translation: AAH39856.1 .
    BC043505 mRNA. Translation: AAH43505.1 . Different termination.
    AF207831 mRNA. Translation: AAG27169.1 .
    D13631 mRNA. Translation: BAA02796.1 . Different initiation.
    D25304 mRNA. Translation: BAA04985.1 .
    CCDSi CCDS14660.1. [Q15052-1 ]
    RefSeqi NP_004831.1. NM_004840.2. [Q15052-1 ]
    XP_005262558.1. XM_005262501.1. [Q15052-2 ]
    UniGenei Hs.522795.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1UJY NMR - A 160-222 [» ]
    1WYR NMR - A 4-111 [» ]
    ProteinModelPortali Q15052.
    SMRi Q15052. Positions 4-111, 154-552, 711-762.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114847. 18 interactions.
    IntActi Q15052. 16 interactions.
    MINTi MINT-2791937.
    STRINGi 9606.ENSP00000250617.

    PTM databases

    PhosphoSitei Q15052.

    Polymorphism databases

    DMDMi 17371603.

    Proteomic databases

    MaxQBi Q15052.
    PaxDbi Q15052.
    PRIDEi Q15052.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000250617 ; ENSP00000250617 ; ENSG00000129675 . [Q15052-1 ]
    ENST00000370620 ; ENSP00000359654 ; ENSG00000129675 . [Q15052-2 ]
    ENST00000370622 ; ENSP00000359656 ; ENSG00000129675 . [Q15052-2 ]
    GeneIDi 9459.
    KEGGi hsa:9459.
    UCSCi uc004fab.3. human. [Q15052-1 ]

    Organism-specific databases

    CTDi 9459.
    GeneCardsi GC0XM135747.
    HGNCi HGNC:685. ARHGEF6.
    HPAi HPA003578.
    MIMi 300267. gene.
    300436. phenotype.
    neXtProti NX_Q15052.
    Orphaneti 777. X-linked non-syndromic intellectual disability.
    PharmGKBi PA24976.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG314429.
    HOGENOMi HOG000231381.
    HOVERGENi HBG050569.
    InParanoidi Q15052.
    KOi K05729.
    OMAi NKATEDQ.
    OrthoDBi EOG708W04.
    PhylomeDBi Q15052.
    TreeFami TF316105.

    Enzyme and pathway databases

    Reactomei REACT_11051. Rho GTPase cycle.
    REACT_13638. NRAGE signals death through JNK.
    REACT_18407. G alpha (12/13) signalling events.
    REACT_20580. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components.

    Miscellaneous databases

    ChiTaRSi ARHGEF6. human.
    EvolutionaryTracei Q15052.
    GeneWikii ARHGEF6.
    GenomeRNAii 9459.
    NextBioi 35442.
    PROi Q15052.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15052.
    Bgeei Q15052.
    CleanExi HS_ARHGEF6.
    Genevestigatori Q15052.

    Family and domain databases

    Gene3Di 1.10.418.10. 1 hit.
    1.20.900.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProi IPR001715. CH-domain.
    IPR000219. DH-domain.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR001452. SH3_domain.
    IPR003096. SM22_calponin.
    [Graphical view ]
    Pfami PF00307. CH. 1 hit.
    PF00169. PH. 1 hit.
    PF00621. RhoGEF. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view ]
    PRINTSi PR00452. SH3DOMAIN.
    PR00888. SM22CALPONIN.
    SMARTi SM00033. CH. 1 hit.
    SM00233. PH. 1 hit.
    SM00325. RhoGEF. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47576. SSF47576. 1 hit.
    SSF48065. SSF48065. 1 hit.
    SSF50044. SSF50044. 1 hit.
    PROSITEi PS50021. CH. 1 hit.
    PS50010. DH_2. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain and Placenta.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Adipose tissue.
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORMS 1 AND 2).
      Tissue: Testis.
    6. "Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation."
      Kutsche K., Yntema H., Brandt A., Jantke I., Nothwang H.G., Orth U., Boavida M.G., David D., Chelly J., Fryns J.-P., Moraine C., Ropers H.-H., Hamel B.C.J., van Bokhoven H., Gal A.
      Nat. Genet. 26:247-250(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-3 (ISOFORM 1), DISEASE.
    7. "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1."
      Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S.
      DNA Res. 1:27-35(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-776 (ISOFORM 1).
      Tissue: Bone marrow.
    8. "Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27."
      Lower K.M., Gecz J.
      Am. J. Med. Genet. 100:43-48(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
    9. "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry."
      Brill L.M., Salomon A.R., Ficarro S.B., Mukherji M., Stettler-Gill M., Peters E.C.
      Anal. Chem. 76:2763-2772(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-150, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    10. "The first CH domain of affixin activates Cdc42 and Rac1 through alphaPIX, a Cdc42/Rac1-specific guanine nucleotide exchanging factor."
      Mishima W., Suzuki A., Yamaji S., Yoshimi R., Ueda A., Kaneko T., Tanaka J., Miwa Y., Ohno S., Ishigatsubo Y.
      Genes Cells 9:193-204(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PARVB.
    11. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-126; SER-144; SER-150; SER-640 AND SER-684, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    12. "Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis."
      Sanchez-Barrena M.J., Vallis Y., Clatworthy M.R., Doherty G.J., Veprintsev D.B., Evans P.R., McMahon H.T.
      PLoS ONE 7:E52401-E52401(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BIN2, IDENTIFICATION IN A COMPLEX WITH BIN2 AND GIT2.
    13. "Solution structure of the CH domain and the SH3 domain in RAC/CDC42 guanine nucleotide exchange factor (GEF) 6."
      RIKEN structural genomics initiative (RSGI)
      Submitted (FEB-2004) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 4-222.

    Entry informationi

    Entry nameiARHG6_HUMAN
    AccessioniPrimary (citable) accession number: Q15052
    Secondary accession number(s): A6NMW9
    , A8K6S7, B1AL37, Q15396, Q5JQ66, Q7Z3W1, Q86XH0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: September 26, 2001
    Last modified: October 1, 2014
    This is version 162 of the entry and version 2 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 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3