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Q8N3Z3

- GTPB8_HUMAN

UniProt

Q8N3Z3 - GTPB8_HUMAN

Protein

GTP-binding protein 8

Gene

GTPBP8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Cofactori

    Magnesium.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi124 – 1241MagnesiumBy similarity
    Metal bindingi148 – 1481MagnesiumBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi117 – 1248GTPBy similarity
    Nucleotide bindingi146 – 1505GTPBy similarity
    Nucleotide bindingi164 – 1674GTPBy similarity
    Nucleotide bindingi226 – 2294GTPBy similarity
    Nucleotide bindingi261 – 2633GTPBy similarity

    GO - Molecular functioni

    1. GTP binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. barrier septum assembly Source: InterPro

    Keywords - Ligandi

    GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    GTP-binding protein 8
    Gene namesi
    Name:GTPBP8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:25007. GTPBP8.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrion Source: Ensembl

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671705.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 284284GTP-binding protein 8PRO_0000338612Add
    BLAST

    Proteomic databases

    MaxQBiQ8N3Z3.
    PaxDbiQ8N3Z3.
    PRIDEiQ8N3Z3.

    PTM databases

    PhosphoSiteiQ8N3Z3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N3Z3.
    BgeeiQ8N3Z3.
    CleanExiHS_GTPBP8.
    GenevestigatoriQ8N3Z3.

    Organism-specific databases

    HPAiHPA034831.

    Interactioni

    Protein-protein interaction databases

    BioGridi118853. 2 interactions.
    IntActiQ8N3Z3. 1 interaction.
    STRINGi9606.ENSP00000373176.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N3Z3.
    SMRiQ8N3Z3. Positions 100-279.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini109 – 282174EngB-type GAdd
    BLAST

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0218.
    HOGENOMiHOG000009834.
    HOVERGENiHBG055007.
    OMAiVSKKPGH.
    OrthoDBiEOG7QVM4B.
    PhylomeDBiQ8N3Z3.
    TreeFamiTF331089.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    HAMAPiMF_00321. GTPase_EngB.
    InterProiIPR019987. GTP-bd_ribosome_bio_YsxC.
    IPR006073. GTP_binding_domain.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF01926. MMR_HSR1. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    TIGRFAMsiTIGR03598. GTPase_YsxC. 1 hit.
    PROSITEiPS51706. G_ENGB. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N3Z3-1) [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

    MAAPGLRLGA GRLFEMPAVL ERLSRYNSTS QAFAEVLRLP KQQLRKLLYP    50
    LQEVERFLAP YGRQDLHLRI FDPSPEDIAR ADNIFTATER NRIDYVSSAV 100
    RIDHAPDLPR PEVCFIGRSN VGKSSLIKAL FSLAPEVEVR VSKKPGHTKK 150
    MNFFKVGKHF TVVDMPGYGF RAPEDFVDMV ETYLKERRNL KRTFLLVDSV 200
    VGIQKTDNIA IEMCEEFALP YVIVLTKIDK SSKGHLLKQV LQIQKFVNMK 250
    TQGCFPQLFP VSAVTFSGIH LLRCFIASVT GSLD 284
    Length:284
    Mass (Da):32,147
    Last modified:October 1, 2002 - v1
    Checksum:i446AF4FFBC1E6E65
    GO
    Isoform 2 (identifier: Q8N3Z3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         113-145: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:251
    Mass (Da):28,604
    Checksum:iD1031C4F4EF93895
    GO
    Isoform 3 (identifier: Q8N3Z3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         113-121: VCFIGRSNV → LEENIFISG
         122-284: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.

    Show »
    Length:121
    Mass (Da):13,848
    Checksum:i6705362389ED1379
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti101 – 1011R → C in BAF82300. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti242 – 2421Q → H.
    Corresponds to variant rs1054263 [ dbSNP | Ensembl ].
    VAR_048934

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei113 – 14533Missing in isoform 2. 1 PublicationVSP_034055Add
    BLAST
    Alternative sequencei113 – 1219VCFIGRSNV → LEENIFISG in isoform 3. 1 PublicationVSP_034056
    Alternative sequencei122 – 284163Missing in isoform 3. 1 PublicationVSP_034057Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK289611 mRNA. Translation: BAF82300.1.
    AK292651 mRNA. Translation: BAF85340.1.
    AC074044 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW79655.1.
    BC010137 mRNA. No translation available.
    BC037163 mRNA. Translation: AAH37163.1.
    CCDSiCCDS33820.1. [Q8N3Z3-1]
    CCDS33821.1. [Q8N3Z3-2]
    RefSeqiNP_054889.2. NM_014170.2. [Q8N3Z3-1]
    NP_612494.1. NM_138485.1. [Q8N3Z3-2]
    UniGeneiHs.127496.

    Genome annotation databases

    EnsembliENST00000295864; ENSP00000295864; ENSG00000163607. [Q8N3Z3-3]
    ENST00000383677; ENSP00000373175; ENSG00000163607. [Q8N3Z3-2]
    ENST00000383678; ENSP00000373176; ENSG00000163607. [Q8N3Z3-1]
    ENST00000485330; ENSP00000418877; ENSG00000163607. [Q8N3Z3-2]
    GeneIDi29083.
    KEGGihsa:29083.
    UCSCiuc003dzn.3. human. [Q8N3Z3-1]
    uc003dzo.3. human. [Q8N3Z3-2]

    Polymorphism databases

    DMDMi74728797.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK289611 mRNA. Translation: BAF82300.1 .
    AK292651 mRNA. Translation: BAF85340.1 .
    AC074044 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW79655.1 .
    BC010137 mRNA. No translation available.
    BC037163 mRNA. Translation: AAH37163.1 .
    CCDSi CCDS33820.1. [Q8N3Z3-1 ]
    CCDS33821.1. [Q8N3Z3-2 ]
    RefSeqi NP_054889.2. NM_014170.2. [Q8N3Z3-1 ]
    NP_612494.1. NM_138485.1. [Q8N3Z3-2 ]
    UniGenei Hs.127496.

    3D structure databases

    ProteinModelPortali Q8N3Z3.
    SMRi Q8N3Z3. Positions 100-279.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118853. 2 interactions.
    IntActi Q8N3Z3. 1 interaction.
    STRINGi 9606.ENSP00000373176.

    PTM databases

    PhosphoSitei Q8N3Z3.

    Polymorphism databases

    DMDMi 74728797.

    Proteomic databases

    MaxQBi Q8N3Z3.
    PaxDbi Q8N3Z3.
    PRIDEi Q8N3Z3.

    Protocols and materials databases

    DNASUi 29083.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295864 ; ENSP00000295864 ; ENSG00000163607 . [Q8N3Z3-3 ]
    ENST00000383677 ; ENSP00000373175 ; ENSG00000163607 . [Q8N3Z3-2 ]
    ENST00000383678 ; ENSP00000373176 ; ENSG00000163607 . [Q8N3Z3-1 ]
    ENST00000485330 ; ENSP00000418877 ; ENSG00000163607 . [Q8N3Z3-2 ]
    GeneIDi 29083.
    KEGGi hsa:29083.
    UCSCi uc003dzn.3. human. [Q8N3Z3-1 ]
    uc003dzo.3. human. [Q8N3Z3-2 ]

    Organism-specific databases

    CTDi 29083.
    GeneCardsi GC03P112709.
    HGNCi HGNC:25007. GTPBP8.
    HPAi HPA034831.
    neXtProti NX_Q8N3Z3.
    PharmGKBi PA142671705.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0218.
    HOGENOMi HOG000009834.
    HOVERGENi HBG055007.
    OMAi VSKKPGH.
    OrthoDBi EOG7QVM4B.
    PhylomeDBi Q8N3Z3.
    TreeFami TF331089.

    Miscellaneous databases

    GenomeRNAii 29083.
    NextBioi 52062.
    PROi Q8N3Z3.

    Gene expression databases

    ArrayExpressi Q8N3Z3.
    Bgeei Q8N3Z3.
    CleanExi HS_GTPBP8.
    Genevestigatori Q8N3Z3.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    HAMAPi MF_00321. GTPase_EngB.
    InterProi IPR019987. GTP-bd_ribosome_bio_YsxC.
    IPR006073. GTP_binding_domain.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF01926. MMR_HSR1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    TIGRFAMsi TIGR03598. GTPase_YsxC. 1 hit.
    PROSITEi PS51706. G_ENGB. 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 cortex and Thymus.
    2. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., 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., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORMS 1 AND 3).
      Tissue: Muscle and Skin.

    Entry informationi

    Entry nameiGTPB8_HUMAN
    AccessioniPrimary (citable) accession number: Q8N3Z3
    Secondary accession number(s): A6NE99
    , A6NN11, A8K0P6, Q5I0Y4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 10, 2008
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 89 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3