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Q5JU69 (TOR2A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Torsin-2A
Alternative name(s):
Torsin family 2 member A
Torsin-related protein 1
Gene names
Name:TOR2A
Synonyms:TORP1
ORF Names:UNQ6408/PRO21181
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length321 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Secreted Probable.

Tissue specificity

Isoform 1 is expressed ubiquitously, except in cardiac and endothelial tissues. Ref.5

Sequence similarities

Belongs to the ClpA/ClpB family. Torsin subfamily.

Sequence caution

The sequence AAH80527.2 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.

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.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5JU69-1)

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.
Isoform 2 (identifier: Q5JU69-2)

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.
Isoform 3 (identifier: Q5JU69-5)

The sequence of this isoform differs from the canonical sequence as follows:
     51-72: GLECDLAQHLAGQHLAKALVVK → EGSEELGPREPHCLWPLPLPLR
     73-321: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8N2E6-1)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Chain27 – 321295Torsin-2A
PRO_0000228829

Regions

Nucleotide binding93 – 1008ATP Potential

Amino acid modifications

Glycosylation1491N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence51 – 7222GLECD…ALVVK → EGSEELGPREPHCLWPLPLP LR in isoform 3.
VSP_035631
Alternative sequence73 – 321249Missing in isoform 3.
VSP_035632
Alternative sequence198 – 25356SNTGG…MEERL → RWGPALQWAQWGGHFSEVQL YSLSLCSQQNPVPHGLSWAF PVPSATLRDDIVIPPG in isoform 2.
VSP_017703
Alternative sequence254 – 32168Missing in isoform 2.
VSP_017704
Natural variant2031K → E. Ref.1
Corresponds to variant rs538066 [ dbSNP | Ensembl ].
VAR_055661

Experimental info

Isoform 2:
Sequence conflict2081W → C in BAB55288. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 15, 2005. Version 1.
Checksum: 93F4DACF3CA0EA02

FASTA32135,714
        10         20         30         40         50         60 
MAAATRGCRP WGSLLGLLGL VSAAAAAWDL ASLRCTLGAF CECDFRPDLP GLECDLAQHL 

        70         80         90        100        110        120 
AGQHLAKALV VKALKAFVRD PAPTKPLVLS LHGWTGTGKS YVSSLLAHYL FQGGLRSPRV 

       130        140        150        160        170        180 
HHFSPVLHFP HPSHIERYKK DLKSWVQGNL TACGRSLFLF DEMDKMPPGL MEVLRPFLGS 

       190        200        210        220        230        240 
SWVVYGTNYR KAIFIFISNT GGKQINQVAL EAWRSRRDRE EILLQELEPV ISRAVLDNPH 

       250        260        270        280        290        300 
HGFSNSGIME ERLLDAVVPF LPLQRHHVRH CVLNELAQLG LEPRDEVVQA VLDSTTFFPE 

       310        320 
DEQLFSSNGC KTVASRIAFF L 

« Hide

Isoform 2 [UniParc].

Checksum: 331B866D2E06D1C5
Show »

FASTA25327,867
Isoform 3 [UniParc].

Checksum: F0712C4F9A299FAA
Show »

FASTA727,704
Isoform 4 [UniParc].

See Q8N2E6.

References

« Hide 'large scale' references
[1]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001078816.1. NM_001085347.2.
NP_001127902.1. NM_001134430.2.
NP_001127903.1. NM_001134431.2.
NP_001238947.1. NM_001252018.1.
NP_001238950.1. NM_001252021.1.
NP_001238952.1. NM_001252023.1.
NP_569726.2. NM_130459.3.
UniGeneHs.444106.

3D structure databases

ProteinModelPortalQ5JU69.
SMRQ5JU69. Positions 82-114, 154-181.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

DIPDIP-59332N.

PTM databases

PhosphoSiteQ5JU69.

Polymorphism databases

DMDM74742272.

Proteomic databases

PaxDbQ5JU69.
PRIDEQ5JU69.

Protocols and materials databases

DNASU27433.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000373281; ENSP00000362378; ENSG00000160404. [Q5JU69-2]
ENST00000373284; ENSP00000362381; ENSG00000160404. [Q5JU69-1]
ENST00000458505; ENSP00000413032; ENSG00000160404. [Q5JU69-5]
GeneID27433.
KEGGhsa:27433.
UCSCuc004brs.4. human. [Q5JU69-1]
uc004brw.4. human. [Q5JU69-2]
uc011maj.2. human. [Q5JU69-5]

Organism-specific databases

CTD27433.
GeneCardsGC09M130493.
HGNCHGNC:11996. TOR2A.
MIM608052. gene.
neXtProtNX_Q5JU69.
PharmGKBPA36677.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG283963.
HOVERGENHBG054188.
InParanoidQ5JU69.
OMAAWDLTSL.
PhylomeDBQ5JU69.
TreeFamTF314941.

Gene expression databases

ArrayExpressQ5JU69.
BgeeQ5JU69.
CleanExHS_TOR2A.
GenevestigatorQ5JU69.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR003593. AAA+_ATPase.
IPR001270. ClpA/B.
IPR027417. P-loop_NTPase.
IPR010448. Torsin.
IPR017378. Torsin_subgr.
[Graphical view]
PANTHERPTHR10760. PTHR10760. 1 hit.
PfamPF06309. Torsin. 1 hit.
[Graphical view]
PIRSFPIRSF038079. Torsin_2A. 1 hit.
PRINTSPR00300. CLPPROTEASEA.
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
ProtoNetSearch...

Other

GeneWikiTOR2A.
GenomeRNAi27433.
NextBio50475.
SOURCESearch...

Entry information

Entry nameTOR2A_HUMAN
AccessionPrimary (citable) accession number: Q5JU69
Secondary accession number(s): A4FU12 expand/collapse secondary AC list , A4FU13, Q3ZCN9, Q3ZCP0, Q5JU68, Q66K87, Q6UXW6, Q8NAN5, Q96SL7
Entry history
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: February 15, 2005
Last modified: April 16, 2014
This is version 89 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM