Q5JU69 (TOR2A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	321 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
Ligand	ATP-binding Nucleotide-binding
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	chaperone mediated protein folding requiring cofactor Inferred from electronic annotation. Source: InterPro protein homooligomerization Inferred from direct assay PubMed 20015956. Source: MGI
Cellular_component	endoplasmic reticulum lumen Inferred from direct assay PubMed 20015956. Source: MGI extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW nucleoside-triphosphatase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 26	26	Potential
	Chain	27 – 321	295	Torsin-2A		PRO_0000228829
Regions
	Nucleotide binding	93 – 100	8	ATP Potential
Amino acid modifications
	Glycosylation	149	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	51 – 72	22	GLECD…ALVVK → EGSEELGPREPHCLWPLPLP LR in isoform 3.		VSP_035631
	Alternative sequence	73 – 321	249	Missing in isoform 3.		VSP_035632
	Alternative sequence	198 – 253	56	SNTGG…MEERL → RWGPALQWAQWGGHFSEVQL YSLSLCSQQNPVPHGLSWAF PVPSATLRDDIVIPPG in isoform 2.		VSP_017703
	Alternative sequence	254 – 321	68	Missing in isoform 2.		VSP_017704
	Natural variant	203	1	K → E. Ref.1 Corresponds to variant rs538066 [ dbSNP | Ensembl ].		VAR_055661
Experimental info
Isoform 2:
	Sequence conflict	208	1	W → C in BAB55288. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 15, 2005. Version 1. Checksum: 93F4DACF3CA0EA02	FASTA	321	35,714
	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
	Isoform 2 [UniParc]. Checksum: 331B866D2E06D1C5	FASTA	253	27,867
	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 KAIFIFIRWG PALQWAQWGG HFSEVQLYSL SLCSQQNPVP HGLSWAFPVP 250 SATLRDDIVI PPG
	Isoform 3 [UniParc]. Checksum: F0712C4F9A299FAA	FASTA	72	7,704
	10 20 30 40 50 60 MAAATRGCRP WGSLLGLLGL VSAAAAAWDL ASLRCTLGAF CECDFRPDLP EGSEELGPRE 70 PHCLWPLPLP LR
	Isoform 4 [UniParc]. See Q8N2E6.		–	–

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
+	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.
IPI	IPI00045800. IPI00432753. IPI00909811.
RefSeq	NP_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.
UniGene	Hs.444106.
3D structure databases
ProteinModelPortal	Q5JU69.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-59332N.
PTM databases
PhosphoSite	Q5JU69.
Polymorphism databases
DMDM	74742272.
Proteomic databases
PaxDb	Q5JU69.
PRIDE	Q5JU69.
Protocols and materials databases
DNASU	27433.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373281; ENSP00000362378; ENSG00000160404. ENST00000373284; ENSP00000362381; ENSG00000160404. ENST00000458505; ENSP00000413032; ENSG00000160404.
GeneID	27433.
KEGG	hsa:27433.
UCSC	uc004brs.4. human. uc004brw.4. human. uc011maj.2. human.
Organism-specific databases
CTD	27433.
GeneCards	GC09M130493.
HGNC	HGNC:11996. TOR2A.
MIM	608052. gene.
neXtProt	NX_Q5JU69.
PharmGKB	PA36677.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG283963.
HOVERGEN	HBG054188.
InParanoid	Q5JU69.
OMA	SGIMEER.
Gene expression databases
ArrayExpress	Q5JU69.
Bgee	Q5JU69.
CleanEx	HS_TOR2A.
Genevestigator	Q5JU69.
GermOnline	ENSG00000160404. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR001270. Chaprnin_ClpA/B. IPR010448. Torsin. IPR017378. Torsin_subgr. [Graphical view]
PANTHER	PTHR10760. PTHR10760. 1 hit.
Pfam	PF06309. Torsin. 1 hit. [Graphical view]
PIRSF	PIRSF038079. Torsin_2A. 1 hit.
PRINTS	PR00300. CLPPROTEASEA.
SMART	SM00382. AAA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	27433.
NextBio	50475.
SOURCE	Search...

Entry information

Entry name

TOR2A_HUMAN

Accession

Primary (citable) accession number: Q5JU69
Secondary accession number(s): A4FU12 , 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:	May 1, 2013
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.