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Q9H497

- TOR3A_HUMAN

UniProt

Q9H497 - TOR3A_HUMAN

Protein

Torsin-3A

Gene

TOR3A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi167 – 1748ATPSequence Analysis

    GO - Molecular functioni

    1. ATPase activity Source: UniProtKB
    2. ATP binding Source: UniProtKB-KW

    GO - Biological processi

    1. ATP catabolic process Source: UniProtKB
    2. chaperone mediated protein folding requiring cofactor Source: InterPro

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Torsin-3A
    Alternative name(s):
    ATP-dependent interferon-responsive protein
    Torsin family 3 member A
    Gene namesi
    Name:TOR3A
    Synonyms:ADIR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:11997. TOR3A.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProt
    2. endoplasmic reticulum lumen Source: UniProt
    3. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm, Endoplasmic reticulum

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi236 – 2361E → Q: No effect on subcellular location. 1 Publication

    Organism-specific databases

    PharmGKBiPA36678.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 397372Torsin-3APRO_0000228147Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi122 – 1221N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9H497.
    PaxDbiQ9H497.
    PRIDEiQ9H497.

    PTM databases

    PhosphoSiteiQ9H497.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed. Highest expression in stomach, salivary glands and lymph nodes. Isoform 2 is expressed in placenta.1 Publication

    Gene expression databases

    ArrayExpressiQ9H497.
    BgeeiQ9H497.
    CleanExiHS_TOR3A.
    GenevestigatoriQ9H497.

    Organism-specific databases

    HPAiHPA028766.

    Interactioni

    Subunit structurei

    May not form homohexamers.1 Publication

    Protein-protein interaction databases

    BioGridi122112. 2 interactions.
    DIPiDIP-59333N.
    STRINGi9606.ENSP00000356599.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H497.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG294957.
    HOVERGENiHBG054188.
    InParanoidiQ9H497.
    OMAiVDLYKEQ.
    OrthoDBiEOG7TF791.
    PhylomeDBiQ9H497.
    TreeFamiTF314941.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR027417. P-loop_NTPase.
    IPR010448. Torsin.
    [Graphical view]
    PANTHERiPTHR10760. PTHR10760. 1 hit.
    PfamiPF06309. Torsin. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H497-1) [UniParc]FASTAAdd to Basket

    Also known as: ADIR1

    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

    MLRGPWRQLW LFFLLLLPGA PEPRGASRPW EGTDEPGSAW AWPGFQRLQE    50
    QLRAAGALSK RYWTLFSCQV WPDDCDEDEE AATGPLGWRL PLLGQRYLDL 100
    LTTWYCSFKD CCPRGDCRIS NNFTGLEWDL NVRLHGQHLV QQLVLRTVRG 150
    YLETPQPEKA LALSFHGWSG TGKNFVARML VENLYRDGLM SDCVRMFIAT 200
    FHFPHPKYVD LYKEQLMSQI RETQQLCHQT LFIFDEAEKL HPGLLEVLGP 250
    HLERRAPEGH RAESPWTIFL FLSNLRGDII NEVVLKLLKA GWSREEITME 300
    HLEPHLQAEI VETIDNGFGH SRLVKENLID YFIPFLPLEY RHVRLCARDA 350
    FLSQELLYKE ETLDEIAQMM VYVPKEEQLF SSQGCKSISQ RINYFLS 397
    Length:397
    Mass (Da):46,199
    Last modified:March 1, 2001 - v1
    Checksum:i459CD18EA22709FE
    GO
    Isoform 2 (identifier: Q9H497-2) [UniParc]FASTAAdd to Basket

    Also known as: ADIR2

    The sequence of this isoform differs from the canonical sequence as follows:
         315-336: DNGFGHSRLVKENLIDYFIPFL → GFSFLTTRWPHLDLPTSSVAPT
         337-397: Missing.

    Show »
    Length:336
    Mass (Da):38,807
    Checksum:i0053B78AF4FE967C
    GO
    Isoform 3 (identifier: Q9H497-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-216: Missing.

    Show »
    Length:181
    Mass (Da):21,180
    Checksum:i7AEBCC4558ABFF73
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti272 – 2721L → P in AAH18292. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131F → L.3 Publications
    Corresponds to variant rs2296377 [ dbSNP | Ensembl ].
    VAR_025697

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 216216Missing in isoform 3. 2 PublicationsVSP_017665Add
    BLAST
    Alternative sequencei315 – 33622DNGFG…FIPFL → GFSFLTTRWPHLDLPTSSVA PT in isoform 2. 1 PublicationVSP_017666Add
    BLAST
    Alternative sequencei337 – 39761Missing in isoform 2. 1 PublicationVSP_017667Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ299403 mRNA. Translation: CAC13973.1.
    AJ299441 mRNA. Translation: CAC14461.1.
    AJ318044
    , AJ318045, AJ318046, AJ318047, AJ318048, AJ318049 Genomic DNA. Translation: CAC88129.1.
    AJ318044
    , AJ318045, AJ318046, AJ318047, AJ318048, AJ318050 Genomic DNA. Translation: CAC88130.1.
    AK025998 mRNA. Translation: BAB15312.1.
    CR457354 mRNA. Translation: CAG33635.1.
    AK299966 mRNA. Translation: BAG61792.1.
    AK316530 mRNA. Translation: BAH14901.1.
    AL139132 Genomic DNA. Translation: CAH70928.1.
    AL139132 Genomic DNA. Translation: CAH70929.1.
    BC001085 mRNA. Translation: AAH01085.1.
    BC007571 mRNA. Translation: AAH07571.1.
    BC011746 mRNA. Translation: AAH11746.1.
    BC018292 mRNA. Translation: AAH18292.1.
    BC088368 mRNA. Translation: AAH88368.1.
    CCDSiCCDS1329.1. [Q9H497-1]
    RefSeqiNP_071766.2. NM_022371.3. [Q9H497-1]
    XP_006711548.1. XM_006711485.1. [Q9H497-3]
    UniGeneiHs.584957.

    Genome annotation databases

    EnsembliENST00000352445; ENSP00000335351; ENSG00000186283. [Q9H497-2]
    ENST00000367627; ENSP00000356599; ENSG00000186283. [Q9H497-1]
    GeneIDi64222.
    KEGGihsa:64222.
    UCSCiuc001gmd.3. human. [Q9H497-1]
    uc010pnd.2. human. [Q9H497-3]

    Polymorphism databases

    DMDMi74752636.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ299403 mRNA. Translation: CAC13973.1 .
    AJ299441 mRNA. Translation: CAC14461.1 .
    AJ318044
    , AJ318045 , AJ318046 , AJ318047 , AJ318048 , AJ318049 Genomic DNA. Translation: CAC88129.1 .
    AJ318044
    , AJ318045 , AJ318046 , AJ318047 , AJ318048 , AJ318050 Genomic DNA. Translation: CAC88130.1 .
    AK025998 mRNA. Translation: BAB15312.1 .
    CR457354 mRNA. Translation: CAG33635.1 .
    AK299966 mRNA. Translation: BAG61792.1 .
    AK316530 mRNA. Translation: BAH14901.1 .
    AL139132 Genomic DNA. Translation: CAH70928.1 .
    AL139132 Genomic DNA. Translation: CAH70929.1 .
    BC001085 mRNA. Translation: AAH01085.1 .
    BC007571 mRNA. Translation: AAH07571.1 .
    BC011746 mRNA. Translation: AAH11746.1 .
    BC018292 mRNA. Translation: AAH18292.1 .
    BC088368 mRNA. Translation: AAH88368.1 .
    CCDSi CCDS1329.1. [Q9H497-1 ]
    RefSeqi NP_071766.2. NM_022371.3. [Q9H497-1 ]
    XP_006711548.1. XM_006711485.1. [Q9H497-3 ]
    UniGenei Hs.584957.

    3D structure databases

    ProteinModelPortali Q9H497.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122112. 2 interactions.
    DIPi DIP-59333N.
    STRINGi 9606.ENSP00000356599.

    PTM databases

    PhosphoSitei Q9H497.

    Polymorphism databases

    DMDMi 74752636.

    Proteomic databases

    MaxQBi Q9H497.
    PaxDbi Q9H497.
    PRIDEi Q9H497.

    Protocols and materials databases

    DNASUi 64222.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000352445 ; ENSP00000335351 ; ENSG00000186283 . [Q9H497-2 ]
    ENST00000367627 ; ENSP00000356599 ; ENSG00000186283 . [Q9H497-1 ]
    GeneIDi 64222.
    KEGGi hsa:64222.
    UCSCi uc001gmd.3. human. [Q9H497-1 ]
    uc010pnd.2. human. [Q9H497-3 ]

    Organism-specific databases

    CTDi 64222.
    GeneCardsi GC01P179050.
    H-InvDB HIX0001373.
    HGNCi HGNC:11997. TOR3A.
    HPAi HPA028766.
    MIMi 607555. gene.
    neXtProti NX_Q9H497.
    PharmGKBi PA36678.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG294957.
    HOVERGENi HBG054188.
    InParanoidi Q9H497.
    OMAi VDLYKEQ.
    OrthoDBi EOG7TF791.
    PhylomeDBi Q9H497.
    TreeFami TF314941.

    Miscellaneous databases

    ChiTaRSi TOR3A. human.
    GenomeRNAii 64222.
    NextBioi 66151.
    PROi Q9H497.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H497.
    Bgeei Q9H497.
    CleanExi HS_TOR3A.
    Genevestigatori Q9H497.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR027417. P-loop_NTPase.
    IPR010448. Torsin.
    [Graphical view ]
    PANTHERi PTHR10760. PTHR10760. 1 hit.
    Pfami PF06309. Torsin. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins."
      Dron M., Meritet J.F., Dandoy-Dron F., Meyniel J.P., Maury C., Tovey M.G.
      Genomics 79:315-325(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
      Tissue: Lymphoma.
    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 3), VARIANT LEU-13.
      Tissue: Kidney epithelium, Pancreas and Stomach.
    3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-13.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      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 3), VARIANT LEU-13.
      Tissue: Cervix, Eye and Muscle.
    6. "Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA."
      Jungwirth M., Dear M.L., Brown P., Holbrook K., Goodchild R.
      Hum. Mol. Genet. 19:888-900(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, SUBUNIT, MUTAGENESIS OF GLU-236.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiTOR3A_HUMAN
    AccessioniPrimary (citable) accession number: Q9H497
    Secondary accession number(s): B4DSY0
    , B7ZB65, Q5M7Y7, Q8WVA7, Q8WWM2, Q9H495, Q9H6E7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 21, 2006
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 95 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 1
      Human chromosome 1: 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