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Q9NXH8

- TOR4A_HUMAN

UniProt

Q9NXH8 - TOR4A_HUMAN

Protein

Torsin-4A

Gene

TOR4A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (15 May 2007)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi194 – 2018ATPSequence Analysis

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. nucleoside-triphosphatase activity Source: InterPro

    GO - Biological processi

    1. chaperone mediated protein folding requiring cofactor Source: InterPro

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Torsin-4A
    Alternative name(s):
    Torsin family 4 member A
    Gene namesi
    Name:TOR4A
    Synonyms:C9orf167
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:25981. TOR4A.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162380839.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 423423Torsin-4APRO_0000287489Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei81 – 811Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9NXH8.
    PaxDbiQ9NXH8.
    PRIDEiQ9NXH8.

    PTM databases

    PhosphoSiteiQ9NXH8.

    Expressioni

    Gene expression databases

    BgeeiQ9NXH8.
    CleanExiHS_C9orf167.
    GenevestigatoriQ9NXH8.

    Organism-specific databases

    HPAiHPA044913.

    Interactioni

    Protein-protein interaction databases

    BioGridi120213. 5 interactions.
    STRINGi9606.ENSP00000350102.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NXH8.
    SMRiQ9NXH8. Positions 157-213.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei122 – 13817HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ClpA/ClpB family. Torsin subfamily.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG264969.
    HOGENOMiHOG000043098.
    HOVERGENiHBG054429.
    InParanoidiQ9NXH8.
    OMAiRAQRCLL.
    OrthoDBiEOG715Q4K.
    PhylomeDBiQ9NXH8.
    TreeFamiTF314941.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR027417. P-loop_NTPase.
    IPR010448. Torsin.
    [Graphical view]
    PANTHERiPTHR10760. PTHR10760. 1 hit.
    PfamiPF06309. Torsin. 1 hit.
    [Graphical view]
    SMARTiSM00382. AAA. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9NXH8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDRGQPSLEP AAAAPRASGR CVIAPVRAVL RLRRRVCVLR KRRLLQPGGG    50
    PDVGTGAPRP GCSPRAPRAD LDQPKFFTFD SPAELPSRTP RKKRRRSRLV 100
    LYPETSRKYR PRVEHRSRAQ RCLLLLVAIV GFQVLNAIEN LDDNAQRYDL 150
    DGLEKALQRA VFGQPAAVSR IVALMRDYLA THVHSRPLLL ALHGPSGVGK 200
    SHVGRLLARH FRSVLEDSAL VLQYHARHHC PEARAAQDCR EELARRVADV 250
    VARAEAEEKT PLLVLDDVEL MPRPLLDELH GFLQPQRSHH FHNAIYVLLS 300
    GAGGAEVTRF VLQNASRALP LRPDGFRSAE AAAAQAEEDL RASLLAVLSR 350
    EHPLWQAAAI VPFLLLDKRD VVSCFRDEMA GEGFFPDQAR AENLAAQLSF 400
    YRVAGREFAV TGCKQVVATV NLL 423
    Length:423
    Mass (Da):46,914
    Last modified:May 15, 2007 - v2
    Checksum:i5CF52BC28A1AD7CC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti356 – 3561Q → R in BAA91032. (PubMed:14702039)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000252 mRNA. Translation: BAA91032.1.
    BX255925 Genomic DNA. Translation: CAM24150.1.
    CCDSiCCDS7041.1.
    RefSeqiNP_060193.2. NM_017723.2.
    UniGeneiHs.495541.

    Genome annotation databases

    EnsembliENST00000357503; ENSP00000350102; ENSG00000198113.
    GeneIDi54863.
    KEGGihsa:54863.
    UCSCiuc004cmn.3. human.

    Polymorphism databases

    DMDMi147638588.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000252 mRNA. Translation: BAA91032.1 .
    BX255925 Genomic DNA. Translation: CAM24150.1 .
    CCDSi CCDS7041.1.
    RefSeqi NP_060193.2. NM_017723.2.
    UniGenei Hs.495541.

    3D structure databases

    ProteinModelPortali Q9NXH8.
    SMRi Q9NXH8. Positions 157-213.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120213. 5 interactions.
    STRINGi 9606.ENSP00000350102.

    PTM databases

    PhosphoSitei Q9NXH8.

    Polymorphism databases

    DMDMi 147638588.

    Proteomic databases

    MaxQBi Q9NXH8.
    PaxDbi Q9NXH8.
    PRIDEi Q9NXH8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000357503 ; ENSP00000350102 ; ENSG00000198113 .
    GeneIDi 54863.
    KEGGi hsa:54863.
    UCSCi uc004cmn.3. human.

    Organism-specific databases

    CTDi 54863.
    GeneCardsi GC09P140173.
    H-InvDB HIX0020701.
    HGNCi HGNC:25981. TOR4A.
    HPAi HPA044913.
    neXtProti NX_Q9NXH8.
    PharmGKBi PA162380839.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG264969.
    HOGENOMi HOG000043098.
    HOVERGENi HBG054429.
    InParanoidi Q9NXH8.
    OMAi RAQRCLL.
    OrthoDBi EOG715Q4K.
    PhylomeDBi Q9NXH8.
    TreeFami TF314941.

    Miscellaneous databases

    GenomeRNAii 54863.
    NextBioi 57754.
    PROi Q9NXH8.

    Gene expression databases

    Bgeei Q9NXH8.
    CleanExi HS_C9orf167.
    Genevestigatori Q9NXH8.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR027417. P-loop_NTPase.
    IPR010448. Torsin.
    [Graphical view ]
    PANTHERi PTHR10760. PTHR10760. 1 hit.
    Pfami PF06309. Torsin. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    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].
      Tissue: Colon mucosa.
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-81, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiTOR4A_HUMAN
    AccessioniPrimary (citable) accession number: Q9NXH8
    Secondary accession number(s): A2BFA4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: May 15, 2007
    Last modified: October 1, 2014
    This is version 99 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 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3