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Q9Y2I9

- TBC30_HUMAN

UniProt

Q9Y2I9 - TBC30_HUMAN

Protein

TBC1 domain family member 30

Gene

TBC1D30

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 2 (26 Feb 2008)
      Previous versions | rss
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    Functioni

    GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro.

    GO - Molecular functioni

    1. Rab GTPase activator activity Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    TBC1 domain family member 30
    Gene namesi
    Name:TBC1D30
    Synonyms:KIAA0984
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:29164. TBC1D30.

    Subcellular locationi

    Cell membrane 1 Publication; Peripheral membrane protein 1 Publication

    GO - Cellular componenti

    1. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi303 – 3031R → K: Loss of GAP activity. 1 Publication

    Organism-specific databases

    PharmGKBiPA162405327.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 924924TBC1 domain family member 30PRO_0000320652Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y2I9.
    PaxDbiQ9Y2I9.
    PRIDEiQ9Y2I9.

    PTM databases

    PhosphoSiteiQ9Y2I9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y2I9.
    BgeeiQ9Y2I9.
    CleanExiHS_TBC1D30.
    GenevestigatoriQ9Y2I9.

    Organism-specific databases

    HPAiHPA039772.
    HPA040043.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000229088.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y2I9.
    SMRiQ9Y2I9. Positions 190-507.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini249 – 457209Rab-GAP TBCPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5210.
    HOGENOMiHOG000090212.
    HOVERGENiHBG108548.
    InParanoidiQ9Y2I9.
    OMAiEQNEGCK.
    PhylomeDBiQ9Y2I9.
    TreeFamiTF321898.

    Family and domain databases

    InterProiIPR000195. Rab-GTPase-TBC_dom.
    [Graphical view]
    PfamiPF00566. RabGAP-TBC. 1 hit.
    [Graphical view]
    SMARTiSM00164. TBC. 1 hit.
    [Graphical view]
    SUPFAMiSSF47923. SSF47923. 2 hits.
    PROSITEiPS50086. TBC_RABGAP. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y2I9-1) [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

    MDVLPTGGGR PGLRTELEFR GGGGEARLES QEEETIPAAP PAPRLRGAAE    50
    RPRRSRDTWD GDEDTEPGEA CGGRTSRTAS LVSGLLNELY SCTEEEEAAG 100
    GGRGAEGRRR RRDSLDSSTE ASGSDVVLGG RSGAGDSRVL QELQERPSQR 150
    HQMLYLRQKD ANELKTILRE LKYRIGIQSA KLLRHLKQKD RLLHKVQRNC 200
    DIVTACLQAV SQKRRVDTKL KFTLEPSLGQ NGFQQWYDAL KAVARLSTGI 250
    PKEWRRKVWL TLADHYLHSI AIDWDKTMRF TFNERSNPDD DSMGIQIVKD 300
    LHRTGCSSYC GQEAEQDRVV LKRVLLAYAR WNKTVGYCQG FNILAALILE 350
    VMEGNEGDAL KIMIYLIDKV LPESYFVNNL RALSVDMAVF RDLLRMKLPE 400
    LSQHLDTLQR TANKESGGGY EPPLTNVFTM QWFLTLFATC LPNQTVLKIW 450
    DSVFFEGSEI ILRVSLAIWA KLGEQIECCE TADEFYSTMG RLTQEMLEND 500
    LLQSHELMQT VYSMAPFPFP QLAELREKYT YNITPFPATV KPTSVSGRHS 550
    KARDSDEEND PDDEDAVVNA VGCLGPFSGF LAPELQKYQK QIKEPNEEQS 600
    LRSNNIAELS PGAINSCRSE YHAAFNSMMM ERMTTDINAL KRQYSRIKKK 650
    QQQQVHQVYI RADKGPVTSI LPSQVNSSPV INHLLLGKKM KMTNRAAKNA 700
    VIHIPGHTGG KISPVPYEDL KTKLNSPWRT HIRVHKKNMP RTKSHPGCGD 750
    TVGLIDEQNE ASKTNGLGAA EAFPSGCTAT AGREGSSPEG STRRTIEGQS 800
    PEPVFGDADV DVSAVQAKLG ALELNQRDAA AETELRVHPP CQRHCPEPPS 850
    APEENKATSK APQGSNSKTP IFSPFPSVKP LRKSATARNL GLYGPTERTP 900
    TVHFPQMSRS FSKPGGGNSG TKKR 924
    Length:924
    Mass (Da):102,743
    Last modified:February 26, 2008 - v2
    Checksum:i36C626CD533F58A7
    GO
    Isoform 2 (identifier: Q9Y2I9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-215: MDVLPTGGGR...CLQAVSQKRR → MRQDKLTGSL...PRLLCTLEPG

    Show »
    Length:761
    Mass (Da):84,683
    Checksum:i6663AC4CA89BB110
    GO
    Isoform 3 (identifier: Q9Y2I9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-215: MDVLPTGGGR...CLQAVSQKRR → MRQDKLTGSL...PRLLCTLEPG
         792-924: TRRTIEGQSP...GGGNSGTKKR → SSYKSLQMI

    Show »
    Length:637
    Mass (Da):71,466
    Checksum:iFE8ABEF2D3FD36F8
    GO

    Sequence cautioni

    The sequence BAA76828.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti770 – 7701A → S in BAG51513. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti296 – 2961Q → H.
    Corresponds to variant rs11615287 [ dbSNP | Ensembl ].
    VAR_039261
    Natural varianti596 – 5961N → D.
    Corresponds to variant rs2290527 [ dbSNP | Ensembl ].
    VAR_052544
    Natural varianti752 – 7521V → I.1 Publication
    Corresponds to variant rs939875 [ dbSNP | Ensembl ].
    VAR_039262
    Natural varianti759 – 7591N → D.
    Corresponds to variant rs2290527 [ dbSNP | Ensembl ].
    VAR_059857

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 215215MDVLP…SQKRR → MRQDKLTGSLRRGGRCLKRQ GGGVGTILSNVLKKRSCISR TAPRLLCTLEPG in isoform 2 and isoform 3. 2 PublicationsVSP_042427Add
    BLAST
    Alternative sequencei792 – 924133TRRTI…GTKKR → SSYKSLQMI in isoform 3. 1 PublicationVSP_042428Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB449914 mRNA. Translation: BAH16657.1.
    AK055404 mRNA. Translation: BAG51513.1.
    AC025262 Genomic DNA. No translation available.
    AC078815 Genomic DNA. No translation available.
    AB023201 mRNA. Translation: BAA76828.1. Different initiation.
    CCDSiCCDS53813.1. [Q9Y2I9-2]
    RefSeqiNP_056094.1. NM_015279.1. [Q9Y2I9-2]
    XP_006719364.1. XM_006719301.1. [Q9Y2I9-1]
    UniGeneiHs.192492.

    Genome annotation databases

    EnsembliENST00000539867; ENSP00000440207; ENSG00000111490. [Q9Y2I9-2]
    GeneIDi23329.
    KEGGihsa:23329.
    UCSCiuc001ssh.2. human. [Q9Y2I9-1]
    uc001ssi.2. human. [Q9Y2I9-3]
    uc010sst.2. human. [Q9Y2I9-2]

    Polymorphism databases

    DMDMi172046608.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB449914 mRNA. Translation: BAH16657.1 .
    AK055404 mRNA. Translation: BAG51513.1 .
    AC025262 Genomic DNA. No translation available.
    AC078815 Genomic DNA. No translation available.
    AB023201 mRNA. Translation: BAA76828.1 . Different initiation.
    CCDSi CCDS53813.1. [Q9Y2I9-2 ]
    RefSeqi NP_056094.1. NM_015279.1. [Q9Y2I9-2 ]
    XP_006719364.1. XM_006719301.1. [Q9Y2I9-1 ]
    UniGenei Hs.192492.

    3D structure databases

    ProteinModelPortali Q9Y2I9.
    SMRi Q9Y2I9. Positions 190-507.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000229088.

    PTM databases

    PhosphoSitei Q9Y2I9.

    Polymorphism databases

    DMDMi 172046608.

    Proteomic databases

    MaxQBi Q9Y2I9.
    PaxDbi Q9Y2I9.
    PRIDEi Q9Y2I9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000539867 ; ENSP00000440207 ; ENSG00000111490 . [Q9Y2I9-2 ]
    GeneIDi 23329.
    KEGGi hsa:23329.
    UCSCi uc001ssh.2. human. [Q9Y2I9-1 ]
    uc001ssi.2. human. [Q9Y2I9-3 ]
    uc010sst.2. human. [Q9Y2I9-2 ]

    Organism-specific databases

    CTDi 23329.
    GeneCardsi GC12P065174.
    H-InvDB HIX0010786.
    HGNCi HGNC:29164. TBC1D30.
    HPAi HPA039772.
    HPA040043.
    MIMi 615077. gene.
    neXtProti NX_Q9Y2I9.
    PharmGKBi PA162405327.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5210.
    HOGENOMi HOG000090212.
    HOVERGENi HBG108548.
    InParanoidi Q9Y2I9.
    OMAi EQNEGCK.
    PhylomeDBi Q9Y2I9.
    TreeFami TF321898.

    Miscellaneous databases

    GenomeRNAii 23329.
    NextBioi 45248.
    PROi Q9Y2I9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y2I9.
    Bgeei Q9Y2I9.
    CleanExi HS_TBC1D30.
    Genevestigatori Q9Y2I9.

    Family and domain databases

    InterProi IPR000195. Rab-GTPase-TBC_dom.
    [Graphical view ]
    Pfami PF00566. RabGAP-TBC. 1 hit.
    [Graphical view ]
    SMARTi SM00164. TBC. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47923. SSF47923. 2 hits.
    PROSITEi PS50086. TBC_RABGAP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity."
      Ishibashi K., Kanno E., Itoh T., Fukuda M.
      Genes Cells 14:41-52(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT ILE-752, MUTAGENESIS OF ARG-303, SUBCELLULAR LOCATION.
      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] (ISOFORM 3).
      Tissue: Brain.
    3. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 216-924.
      Tissue: Brain.

    Entry informationi

    Entry nameiTBC30_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y2I9
    Secondary accession number(s): B3KP01
    , B9A6M9, E7EMW4, F5GYJ9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 26, 2008
    Last sequence update: February 26, 2008
    Last modified: October 1, 2014
    This is version 89 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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