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Q5JU69

- TOR2A_HUMAN

UniProt

Q5JU69 - TOR2A_HUMAN

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Protein

Torsin-2A

Gene

TOR2A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi93 – 1008ATPSequence Analysis

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW

GO - Biological processi

  1. chaperone mediated protein folding requiring cofactor Source: InterPro
  2. protein homooligomerization Source: MGI
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ5JU69.
CleanExiHS_TOR2A.
ExpressionAtlasiQ5JU69. baseline and differential.
GenevestigatoriQ5JU69.

Interactioni

Subunit structurei

Homohexamer. Interacts with TOR1AIP1 (By similarity).By similarity

Protein-protein interaction databases

BioGridi118167. 4 interactions.
DIPiDIP-59332N.

Structurei

3D structure databases

ProteinModelPortaliQ5JU69.
SMRiQ5JU69. Positions 83-114.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG283963.
GeneTreeiENSGT00390000001920.
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

        10         20         30         40         50
MAAATRGCRP WGSLLGLLGL VSAAAAAWDL ASLRCTLGAF CECDFRPDLP
60 70 80 90 100
GLECDLAQHL AGQHLAKALV VKALKAFVRD PAPTKPLVLS LHGWTGTGKS
110 120 130 140 150
YVSSLLAHYL FQGGLRSPRV HHFSPVLHFP HPSHIERYKK DLKSWVQGNL
160 170 180 190 200
TACGRSLFLF DEMDKMPPGL MEVLRPFLGS SWVVYGTNYR KAIFIFISNT
210 220 230 240 250
GGKQINQVAL EAWRSRRDRE EILLQELEPV ISRAVLDNPH HGFSNSGIME
260 270 280 290 300
ERLLDAVVPF LPLQRHHVRH CVLNELAQLG LEPRDEVVQA VLDSTTFFPE
310 320
DEQLFSSNGC KTVASRIAFF L
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.Curated
The sequence AAI00909.2 differs from that shown. Reason: Probable cloning artifact.Curated
The sequence AAI00910.2 differs from that shown. Reason: Probable cloning artifact.Curated
The sequence AAI00911.2 differs from that shown. Reason: Probable cloning artifact.Curated

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:
EMBLi
GenBanki
DDBJi
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]
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]
ENST00000463256; ENSP00000485648; ENSG00000160404. [Q5JU69-5]
ENST00000463577; ENSP00000485268; ENSG00000160404. [Q5JU69-5]
ENST00000493439; ENSP00000485360; ENSG00000160404. [Q5JU69-5]
ENST00000496460; ENSP00000485544; ENSG00000160404. [Q5JU69-5]
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:
EMBLi
GenBanki
DDBJi
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 ]
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 83-114.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118167. 4 interactions.
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 ]
ENST00000463256 ; ENSP00000485648 ; ENSG00000160404 . [Q5JU69-5 ]
ENST00000463577 ; ENSP00000485268 ; ENSG00000160404 . [Q5JU69-5 ]
ENST00000493439 ; ENSP00000485360 ; ENSG00000160404 . [Q5JU69-5 ]
ENST00000496460 ; ENSP00000485544 ; ENSG00000160404 . [Q5JU69-5 ]
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.
GeneTreei ENSGT00390000001920.
HOVERGENi HBG054188.
InParanoidi Q5JU69.
OMAi AWDLTSL.
PhylomeDBi Q5JU69.
TreeFami TF314941.

Miscellaneous databases

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

Gene expression databases

Bgeei Q5JU69.
CleanExi HS_TOR2A.
ExpressionAtlasi Q5JU69. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 96 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