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O43307

- ARHG9_HUMAN

UniProt

O43307 - ARHG9_HUMAN

Protein

Rho guanine nucleotide exchange factor 9

Gene

ARHGEF9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.1 Publication

    GO - Molecular functioni

    1. Rho guanyl-nucleotide exchange factor activity Source: InterPro

    GO - Biological processi

    1. apoptotic signaling pathway Source: Reactome
    2. ion transmembrane transport Source: Reactome
    3. neurotrophin TRK receptor signaling pathway Source: Reactome
    4. positive regulation of apoptotic process Source: Reactome
    5. regulation of small GTPase mediated signal transduction Source: Reactome
    6. small GTPase mediated signal transduction Source: Reactome
    7. synaptic transmission Source: Reactome
    8. transmembrane transport 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_24987. GABA A receptor activation.
    REACT_25387. Ligand-gated ion channel transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Rho guanine nucleotide exchange factor 9
    Alternative name(s):
    Collybistin
    PEM-2 homolog
    Rac/Cdc42 guanine nucleotide exchange factor 9
    Gene namesi
    Name:ARHGEF9
    Synonyms:ARHDH9, KIAA0424
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:14561. ARHGEF9.

    Subcellular locationi

    Cytoplasm 1 Publication

    GO - Cellular componenti

    1. cytosol Source: Reactome

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Epileptic encephalopathy, early infantile, 8 (EIEE8) [MIM:300607]: A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti55 – 551G → A in EIEE8; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses. 1 Publication
    VAR_028752

    Keywords - Diseasei

    Disease mutation, Epilepsy

    Organism-specific databases

    MIMi300607. phenotype.
    Orphaneti163985. Hyperekplexia - epilepsy.
    PharmGKBiPA24978.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 516516Rho guanine nucleotide exchange factor 9PRO_0000253895Add
    BLAST

    Proteomic databases

    PaxDbiO43307.
    PRIDEiO43307.

    PTM databases

    PhosphoSiteiO43307.

    Expressioni

    Tissue specificityi

    Detected in brain. Detected at low levels in heart.1 Publication

    Gene expression databases

    ArrayExpressiO43307.
    BgeeiO43307.
    CleanExiHS_ARHGEF9.
    GenevestigatoriO43307.

    Organism-specific databases

    HPAiHPA035419.

    Interactioni

    Subunit structurei

    Interacts with GPHN.

    Protein-protein interaction databases

    BioGridi116834. 5 interactions.
    IntActiO43307. 1 interaction.
    STRINGi9606.ENSP00000253401.

    Structurei

    Secondary structure

    1
    516
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi11 – 177
    Beta strandi22 – 265
    Beta strandi34 – 396
    Beta strandi42 – 498
    Beta strandi54 – 585
    Helixi59 – 613
    Beta strandi62 – 665

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2YSQNMR-A7-75[»]
    ProteinModelPortaliO43307.
    SMRiO43307. Positions 4-450.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO43307.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini8 – 6760SH3PROSITE-ProRule annotationAdd
    BLAST
    Domaini103 – 287185DHPROSITE-ProRule annotationAdd
    BLAST
    Domaini318 – 425108PHPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni100 – 11011Interaction with GPHNBy similarityAdd
    BLAST

    Sequence similaritiesi

    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

    eggNOGiCOG5422.
    HOGENOMiHOG000237363.
    HOVERGENiHBG050568.
    OMAiKVTKQKG.
    PhylomeDBiO43307.
    TreeFamiTF316832.

    Family and domain databases

    Gene3Di1.20.900.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProiIPR000219. DH-domain.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR001452. SH3_domain.
    [Graphical view]
    PfamiPF00169. PH. 1 hit.
    PF00621. RhoGEF. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view]
    SMARTiSM00233. PH. 1 hit.
    SM00325. RhoGEF. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view]
    SUPFAMiSSF48065. SSF48065. 1 hit.
    SSF50044. SSF50044. 1 hit.
    PROSITEiPS50010. DH_2. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43307-1) [UniParc]FASTAAdd to Basket

    Also known as: CB3(SH3+)

    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

    MTLLITGDSI VSAEAVWDHV TMANRELAFK AGDVIKVLDA SNKDWWWGQI    50
    DDEEGWFPAS FVRLWVNQED EVEEGPSDVQ NGHLDPNSDC LCLGRPLQNR 100
    DQMRANVINE IMSTERHYIK HLKDICEGYL KQCRKRRDMF SDEQLKVIFG 150
    NIEDIYRFQM GFVRDLEKQY NNDDPHLSEI GPCFLEHQDG FWIYSEYCNN 200
    HLDACMELSK LMKDSRYQHF FEACRLLQQM IDIAIDGFLL TPVQKICKYP 250
    LQLAELLKYT AQDHSDYRYV AAALAVMRNV TQQINERKRR LENIDKIAQW 300
    QASVLDWEGE DILDRSSELI YTGEMAWIYQ PYGRNQQRVF FLFDHQMVLC 350
    KKDLIRRDIL YYKGRIDMDK YEVVDIEDGR DDDFNVSMKN AFKLHNKETE 400
    EIHLFFAKKL EEKIRWLRAF REERKMVQED EKIGFEISEN QKRQAAMTVR 450
    KVPKQKGVNS ARSVPPSYPP PQDPLNHGQY LVPDGIAQSQ VFEFTEPKRS 500
    QSPFWQNFSR LTPFKK 516
    Length:516
    Mass (Da):60,982
    Last modified:October 17, 2006 - v3
    Checksum:iAAEE17366B46B707
    GO
    Isoform 2 (identifier: O43307-2) [UniParc]FASTAAdd to Basket

    Also known as: CB3(SH3-)

    The sequence of this isoform differs from the canonical sequence as follows:
         1-10: MTLLITGDSI → MQWIRGGSGM
         11-63: Missing.

    Show »
    Length:463
    Mass (Da):54,965
    Checksum:i046F5EC27274EC71
    GO
    Isoform 3 (identifier: O43307-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-102: Missing.

    Show »
    Length:414
    Mass (Da):49,458
    Checksum:i65A0F069D8E0A009
    GO

    Sequence cautioni

    The sequence BAA24854.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti109 – 1091N → D in BAF82682. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti55 – 551G → A in EIEE8; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses. 1 Publication
    VAR_028752
    Natural varianti401 – 4011E → K Probable disease-associated mutation found in a patient with moderate mental retardation, speech delay and sleep disturbances. 1 Publication
    VAR_069370

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 102102Missing in isoform 3. 1 PublicationVSP_044555Add
    BLAST
    Alternative sequencei1 – 1010MTLLITGDSI → MQWIRGGSGM in isoform 2. 1 PublicationVSP_042920
    Alternative sequencei11 – 6353Missing in isoform 2. 1 PublicationVSP_042921Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB007884 mRNA. Translation: BAA24854.2. Different initiation.
    AK289993 mRNA. Translation: BAF82682.1.
    AK295033 mRNA. Translation: BAG58088.1.
    AL451106, AL355142, AL391277 Genomic DNA. Translation: CAI39550.1.
    AL391277, AL355142, AL451106 Genomic DNA. Translation: CAI40401.1.
    AL355142, AL391277, AL451106 Genomic DNA. Translation: CAI41195.1.
    BC056892 mRNA. No translation available.
    BC117406 mRNA. Translation: AAI17407.1.
    CCDSiCCDS35315.1. [O43307-1]
    CCDS55429.1. [O43307-3]
    CCDS55430.1. [O43307-2]
    RefSeqiNP_001166950.1. NM_001173479.1. [O43307-2]
    NP_001166951.1. NM_001173480.1. [O43307-3]
    NP_056000.1. NM_015185.2. [O43307-1]
    UniGeneiHs.54697.

    Genome annotation databases

    EnsembliENST00000253401; ENSP00000253401; ENSG00000131089. [O43307-1]
    ENST00000374870; ENSP00000364004; ENSG00000131089. [O43307-3]
    ENST00000437457; ENSP00000399994; ENSG00000131089. [O43307-2]
    GeneIDi23229.
    KEGGihsa:23229.
    UCSCiuc004dvj.2. human. [O43307-1]
    uc011mot.2. human. [O43307-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB007884 mRNA. Translation: BAA24854.2 . Different initiation.
    AK289993 mRNA. Translation: BAF82682.1 .
    AK295033 mRNA. Translation: BAG58088.1 .
    AL451106 , AL355142 , AL391277 Genomic DNA. Translation: CAI39550.1 .
    AL391277 , AL355142 , AL451106 Genomic DNA. Translation: CAI40401.1 .
    AL355142 , AL391277 , AL451106 Genomic DNA. Translation: CAI41195.1 .
    BC056892 mRNA. No translation available.
    BC117406 mRNA. Translation: AAI17407.1 .
    CCDSi CCDS35315.1. [O43307-1 ]
    CCDS55429.1. [O43307-3 ]
    CCDS55430.1. [O43307-2 ]
    RefSeqi NP_001166950.1. NM_001173479.1. [O43307-2 ]
    NP_001166951.1. NM_001173480.1. [O43307-3 ]
    NP_056000.1. NM_015185.2. [O43307-1 ]
    UniGenei Hs.54697.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2YSQ NMR - A 7-75 [» ]
    ProteinModelPortali O43307.
    SMRi O43307. Positions 4-450.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116834. 5 interactions.
    IntActi O43307. 1 interaction.
    STRINGi 9606.ENSP00000253401.

    PTM databases

    PhosphoSitei O43307.

    Proteomic databases

    PaxDbi O43307.
    PRIDEi O43307.

    Protocols and materials databases

    DNASUi 23229.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000253401 ; ENSP00000253401 ; ENSG00000131089 . [O43307-1 ]
    ENST00000374870 ; ENSP00000364004 ; ENSG00000131089 . [O43307-3 ]
    ENST00000437457 ; ENSP00000399994 ; ENSG00000131089 . [O43307-2 ]
    GeneIDi 23229.
    KEGGi hsa:23229.
    UCSCi uc004dvj.2. human. [O43307-1 ]
    uc011mot.2. human. [O43307-2 ]

    Organism-specific databases

    CTDi 23229.
    GeneCardsi GC0XM062771.
    GeneReviewsi ARHGEF9.
    HGNCi HGNC:14561. ARHGEF9.
    HPAi HPA035419.
    MIMi 300429. gene.
    300607. phenotype.
    neXtProti NX_O43307.
    Orphaneti 163985. Hyperekplexia - epilepsy.
    PharmGKBi PA24978.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5422.
    HOGENOMi HOG000237363.
    HOVERGENi HBG050568.
    OMAi KVTKQKG.
    PhylomeDBi O43307.
    TreeFami TF316832.

    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_24987. GABA A receptor activation.
    REACT_25387. Ligand-gated ion channel transport.

    Miscellaneous databases

    EvolutionaryTracei O43307.
    GeneWikii ARHGEF9.
    GenomeRNAii 23229.
    NextBioi 44841.
    PROi O43307.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43307.
    Bgeei O43307.
    CleanExi HS_ARHGEF9.
    Genevestigatori O43307.

    Family and domain databases

    Gene3Di 1.20.900.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProi IPR000219. DH-domain.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR001452. SH3_domain.
    [Graphical view ]
    Pfami PF00169. PH. 1 hit.
    PF00621. RhoGEF. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view ]
    SMARTi SM00233. PH. 1 hit.
    SM00325. RhoGEF. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48065. SSF48065. 1 hit.
    SSF50044. SSF50044. 1 hit.
    PROSITEi PS50010. DH_2. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro."
      Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:307-313(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "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 Hippocampus.
    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. "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 3).
      Tissue: Brain and Uterus.
    5. "Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42."
      Reid T., Bathoorn A., Ahmadian M.R., Collard J.G.
      J. Biol. Chem. 274:33587-33593(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    6. "Solution structure of the SH3 domain from Rho guanine nucleotide exchange factor 9."
      RIKEN structural genomics initiative (RSGI)
      Submitted (FEB-2009) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 7-75.
    7. Cited for: VARIANT EIEE8 ALA-55, CHARACTERIZATION OF VARIANT EIEE8 ALA-55, ALTERNATIVE SPLICING.
    8. Cited for: VARIANT LYS-401.

    Entry informationi

    Entry nameiARHG9_HUMAN
    AccessioniPrimary (citable) accession number: O43307
    Secondary accession number(s): A8K1S8
    , B4DHC7, F8W7P8, Q5JSL6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 17, 2006
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 115 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

    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