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Q5JU69

- TOR2A_HUMAN

UniProt

Q5JU69 - TOR2A_HUMAN

Protein

Torsin-2A

Gene

TOR2A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (15 Feb 2005)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi93 – 1008ATPSequence 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
    2. protein homooligomerization Source: MGI

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Torsin-2A
    Alternative name(s):
    Torsin family 2 member A
    Torsin-related protein 1
    Gene namesi
    Name:TOR2A
    Synonyms:TORP1
    ORF Names:UNQ6408/PRO21181
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:11996. TOR2A.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum lumen Source: MGI

    Keywords - Cellular componenti

    Endoplasmic reticulum

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA36677.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2626Sequence AnalysisAdd
    BLAST
    Chaini27 – 321295Torsin-2APRO_0000228829Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi149 – 1491N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ5JU69.
    PRIDEiQ5JU69.

    PTM databases

    PhosphoSiteiQ5JU69.

    Expressioni

    Tissue specificityi

    Isoform 1 is expressed ubiquitously, except in cardiac and endothelial tissues.1 Publication

    Gene expression databases

    ArrayExpressiQ5JU69.
    BgeeiQ5JU69.
    CleanExiHS_TOR2A.
    GenevestigatoriQ5JU69.

    Interactioni

    Subunit structurei

    Homohexamer. Interacts with TOR1AIP1 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi118167. 1 interaction.
    DIPiDIP-59332N.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5JU69.
    SMRiQ5JU69. Positions 85-112.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG283963.
    HOVERGENiHBG054188.
    InParanoidiQ5JU69.
    OMAiAWDLTSL.
    PhylomeDBiQ5JU69.
    TreeFamiTF314941.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR001270. ClpA/B.
    IPR027417. P-loop_NTPase.
    IPR010448. Torsin.
    IPR017378. Torsin_subgr.
    [Graphical view]
    PANTHERiPTHR10760. PTHR10760. 1 hit.
    PfamiPF06309. Torsin. 1 hit.
    [Graphical view]
    PIRSFiPIRSF038079. Torsin_2A. 1 hit.
    PRINTSiPR00300. CLPPROTEASEA.
    SMARTiSM00382. AAA. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5JU69-1) [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

    MAAATRGCRP WGSLLGLLGL VSAAAAAWDL ASLRCTLGAF CECDFRPDLP    50
    GLECDLAQHL AGQHLAKALV VKALKAFVRD PAPTKPLVLS LHGWTGTGKS 100
    YVSSLLAHYL FQGGLRSPRV HHFSPVLHFP HPSHIERYKK DLKSWVQGNL 150
    TACGRSLFLF DEMDKMPPGL MEVLRPFLGS SWVVYGTNYR KAIFIFISNT 200
    GGKQINQVAL EAWRSRRDRE EILLQELEPV ISRAVLDNPH HGFSNSGIME 250
    ERLLDAVVPF LPLQRHHVRH CVLNELAQLG LEPRDEVVQA VLDSTTFFPE 300
    DEQLFSSNGC KTVASRIAFF L 321
    Length:321
    Mass (Da):35,714
    Last modified:February 15, 2005 - v1
    Checksum:i93F4DACF3CA0EA02
    GO
    Isoform 2 (identifier: Q5JU69-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         198-253: SNTGGKQINQ...SNSGIMEERL → RWGPALQWAQ...LRDDIVIPPG
         254-321: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:253
    Mass (Da):27,867
    Checksum:i331B866D2E06D1C5
    GO
    Isoform 3 (identifier: Q5JU69-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         51-72: GLECDLAQHLAGQHLAKALVVK → EGSEELGPREPHCLWPLPLPLR
         73-321: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:72
    Mass (Da):7,704
    Checksum:iF0712C4F9A299FAA
    GO
    Isoform 4 (identifier: Q8N2E6-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform can be found in the external entry Q8N2E6.
    Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.

    Note: Salusins -alpha and -beta peptides are derived from isoform 4.

    Length:242
    Mass (Da):26,262
    GO

    Sequence cautioni

    The sequence AAI00908.2 differs from that shown. Reason: Probable cloning artifact.
    The sequence AAI00909.2 differs from that shown. Reason: Probable cloning artifact.
    The sequence AAI00910.2 differs from that shown. Reason: Probable cloning artifact.
    The sequence AAI00911.2 differs from that shown. Reason: Probable cloning artifact.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Isoform 2 (identifier: Q5JU69-2)
    Sequence conflicti208 – 2081W → C in BAB55288. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti203 – 2031K → E.1 Publication
    Corresponds to variant rs538066 [ dbSNP | Ensembl ].
    VAR_055661

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei51 – 7222GLECD…ALVVK → EGSEELGPREPHCLWPLPLP LR in isoform 3. 1 PublicationVSP_035631Add
    BLAST
    Alternative sequencei73 – 321249Missing in isoform 3. 1 PublicationVSP_035632Add
    BLAST
    Alternative sequencei198 – 25356SNTGG…MEERL → RWGPALQWAQWGGHFSEVQL YSLSLCSQQNPVPHGLSWAF PVPSATLRDDIVIPPG in isoform 2. 1 PublicationVSP_017703Add
    BLAST
    Alternative sequencei254 – 32168Missing in isoform 2. 1 PublicationVSP_017704Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358180 mRNA. Translation: AAQ88547.1.
    AK027677 mRNA. Translation: BAB55288.1.
    AL162426 Genomic DNA. Translation: CAI41186.1.
    AL162426 Genomic DNA. Translation: CAI41187.1.
    BC100907 mRNA. Translation: AAI00908.2. Sequence problems.
    BC100908 mRNA. Translation: AAI00909.2. Sequence problems.
    BC100909 mRNA. Translation: AAI00910.2. Sequence problems.
    BC100910 mRNA. Translation: AAI00911.2. Sequence problems.
    BC080527 mRNA. Translation: AAH80527.2. Sequence problems.
    CCDSiCCDS43879.1. [Q5JU69-1]
    CCDS48025.1. [Q5JU69-5]
    CCDS6876.1. [Q5JU69-2]
    RefSeqiNP_001078816.1. NM_001085347.2.
    NP_001127902.1. NM_001134430.2.
    NP_001127903.1. NM_001134431.2. [Q5JU69-5]
    NP_001238947.1. NM_001252018.1.
    NP_001238950.1. NM_001252021.1.
    NP_001238952.1. NM_001252023.1.
    NP_569726.2. NM_130459.3. [Q5JU69-2]
    UniGeneiHs.444106.

    Genome annotation databases

    EnsembliENST00000373281; ENSP00000362378; ENSG00000160404. [Q5JU69-2]
    ENST00000373284; ENSP00000362381; ENSG00000160404. [Q5JU69-1]
    GeneIDi27433.
    KEGGihsa:27433.
    UCSCiuc004brs.4. human. [Q5JU69-1]
    uc004brw.4. human. [Q5JU69-2]
    uc011maj.2. human. [Q5JU69-5]

    Polymorphism databases

    DMDMi74742272.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358180 mRNA. Translation: AAQ88547.1 .
    AK027677 mRNA. Translation: BAB55288.1 .
    AL162426 Genomic DNA. Translation: CAI41186.1 .
    AL162426 Genomic DNA. Translation: CAI41187.1 .
    BC100907 mRNA. Translation: AAI00908.2 . Sequence problems.
    BC100908 mRNA. Translation: AAI00909.2 . Sequence problems.
    BC100909 mRNA. Translation: AAI00910.2 . Sequence problems.
    BC100910 mRNA. Translation: AAI00911.2 . Sequence problems.
    BC080527 mRNA. Translation: AAH80527.2 . Sequence problems.
    CCDSi CCDS43879.1. [Q5JU69-1 ]
    CCDS48025.1. [Q5JU69-5 ]
    CCDS6876.1. [Q5JU69-2 ]
    RefSeqi NP_001078816.1. NM_001085347.2.
    NP_001127902.1. NM_001134430.2.
    NP_001127903.1. NM_001134431.2. [Q5JU69-5 ]
    NP_001238947.1. NM_001252018.1.
    NP_001238950.1. NM_001252021.1.
    NP_001238952.1. NM_001252023.1.
    NP_569726.2. NM_130459.3. [Q5JU69-2 ]
    UniGenei Hs.444106.

    3D structure databases

    ProteinModelPortali Q5JU69.
    SMRi Q5JU69. Positions 85-112.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118167. 1 interaction.
    DIPi DIP-59332N.

    PTM databases

    PhosphoSitei Q5JU69.

    Polymorphism databases

    DMDMi 74742272.

    Proteomic databases

    PaxDbi Q5JU69.
    PRIDEi Q5JU69.

    Protocols and materials databases

    DNASUi 27433.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373281 ; ENSP00000362378 ; ENSG00000160404 . [Q5JU69-2 ]
    ENST00000373284 ; ENSP00000362381 ; ENSG00000160404 . [Q5JU69-1 ]
    GeneIDi 27433.
    KEGGi hsa:27433.
    UCSCi uc004brs.4. human. [Q5JU69-1 ]
    uc004brw.4. human. [Q5JU69-2 ]
    uc011maj.2. human. [Q5JU69-5 ]

    Organism-specific databases

    CTDi 27433.
    GeneCardsi GC09M130493.
    HGNCi HGNC:11996. TOR2A.
    MIMi 608052. gene.
    neXtProti NX_Q5JU69.
    PharmGKBi PA36677.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG283963.
    HOVERGENi HBG054188.
    InParanoidi Q5JU69.
    OMAi AWDLTSL.
    PhylomeDBi Q5JU69.
    TreeFami TF314941.

    Miscellaneous databases

    GeneWikii TOR2A.
    GenomeRNAii 27433.
    NextBioi 50475.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5JU69.
    Bgeei Q5JU69.
    CleanExi HS_TOR2A.
    Genevestigatori Q5JU69.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR001270. ClpA/B.
    IPR027417. P-loop_NTPase.
    IPR010448. Torsin.
    IPR017378. Torsin_subgr.
    [Graphical view ]
    PANTHERi PTHR10760. PTHR10760. 1 hit.
    Pfami PF06309. Torsin. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF038079. Torsin_2A. 1 hit.
    PRINTSi PR00300. CLPPROTEASEA.
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-203.
    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 2).
      Tissue: Peripheral blood monocyte and Placenta.
    3. "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].
    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] (ISOFORM 3).
      Tissue: B-cell.
    5. "Salusins: newly identified bioactive peptides with hemodynamic and mitogenic activities."
      Shichiri M., Ishimaru S., Ota T., Nishikawa T., Isogai T., Hirata Y.
      Nat. Med. 9:1166-1172(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiTOR2A_HUMAN
    AccessioniPrimary (citable) accession number: Q5JU69
    Secondary accession number(s): A4FU12
    , A4FU13, Q3ZCN9, Q3ZCP0, Q5JU68, Q66K87, Q6UXW6, Q8NAN5, Q96SL7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 21, 2006
    Last sequence update: February 15, 2005
    Last modified: October 1, 2014
    This is version 94 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 9
      Human chromosome 9: 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