Q9H497 (TOR3A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Torsin-3A

Alternative name(s):
ATP-dependent interferon-responsive protein
Torsin family 3 member A

Gene names

Name:	TOR3A
Synonyms:	ADIR

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	397 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Cytoplasm. Endoplasmic reticulum Ref.1.
Tissue specificity	Ubiquitously expressed. Highest expression in stomach, salivary glands and lymph nodes. Isoform 2 is expressed in placenta. Ref.1
Sequence similarities	Belongs to the clpA/clpB family. Torsin subfamily.

Ontologies

Keywords
Cellular component	Cytoplasm Endoplasmic reticulum
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
Cellular_component	endoplasmic reticulum lumen Inferred from direct assay PubMed 20015956. Source: MGI
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H497-1)

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.

Isoform 2 (identifier: Q9H497-2)

Also known as: ADIR2;

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

Isoform 3 (identifier: Q9H497-3)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 25	25	Potential
	Chain	26 – 397	372	Torsin-3A		PRO_0000228147
Regions
	Nucleotide binding	167 – 174	8	ATP Potential
Amino acid modifications
	Glycosylation	122	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 216	216	Missing in isoform 3.		VSP_017665
	Alternative sequence	315 – 336	22	DNGFG…FIPFL → GFSFLTTRWPHLDLPTSSVA PT in isoform 2.		VSP_017666
	Alternative sequence	337 – 397	61	Missing in isoform 2.		VSP_017667
	Natural variant	13	1	F → L. Ref.2 Ref.3 Ref.5 Corresponds to variant rs2296377 [ dbSNP | Ensembl ].		VAR_025697
Experimental info
	Sequence conflict	272	1	L → P in AAH18292. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (ADIR1) [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 459CD18EA22709FE	FASTA	397	46,199
	10 20 30 40 50 60 MLRGPWRQLW LFFLLLLPGA PEPRGASRPW EGTDEPGSAW AWPGFQRLQE QLRAAGALSK 70 80 90 100 110 120 RYWTLFSCQV WPDDCDEDEE AATGPLGWRL PLLGQRYLDL LTTWYCSFKD CCPRGDCRIS 130 140 150 160 170 180 NNFTGLEWDL NVRLHGQHLV QQLVLRTVRG YLETPQPEKA LALSFHGWSG TGKNFVARML 190 200 210 220 230 240 VENLYRDGLM SDCVRMFIAT FHFPHPKYVD LYKEQLMSQI RETQQLCHQT LFIFDEAEKL 250 260 270 280 290 300 HPGLLEVLGP HLERRAPEGH RAESPWTIFL FLSNLRGDII NEVVLKLLKA GWSREEITME 310 320 330 340 350 360 HLEPHLQAEI VETIDNGFGH SRLVKENLID YFIPFLPLEY RHVRLCARDA FLSQELLYKE 370 380 390 ETLDEIAQMM VYVPKEEQLF SSQGCKSISQ RINYFLS
	Isoform 2 (ADIR2) [UniParc]. Checksum: 0053B78AF4FE967C	FASTA	336	38,807
	10 20 30 40 50 60 MLRGPWRQLW LFFLLLLPGA PEPRGASRPW EGTDEPGSAW AWPGFQRLQE QLRAAGALSK 70 80 90 100 110 120 RYWTLFSCQV WPDDCDEDEE AATGPLGWRL PLLGQRYLDL LTTWYCSFKD CCPRGDCRIS 130 140 150 160 170 180 NNFTGLEWDL NVRLHGQHLV QQLVLRTVRG YLETPQPEKA LALSFHGWSG TGKNFVARML 190 200 210 220 230 240 VENLYRDGLM SDCVRMFIAT FHFPHPKYVD LYKEQLMSQI RETQQLCHQT LFIFDEAEKL 250 260 270 280 290 300 HPGLLEVLGP HLERRAPEGH RAESPWTIFL FLSNLRGDII NEVVLKLLKA GWSREEITME 310 320 330 HLEPHLQAEI VETIGFSFLT TRWPHLDLPT SSVAPT
	Isoform 3 [UniParc]. Checksum: 7AEBCC4558ABFF73	FASTA	181	21,180
	10 20 30 40 50 60 MSQIRETQQL CHQTLFIFDE AEKLHPGLLE VLGPHLERRA PEGHRAESPW TIFLFLSNLR 70 80 90 100 110 120 GDIINEVVLK LLKAGWSREE ITMEHLEPHL QAEIVETIDN GFGHSRLVKE NLIDYFIPFL 130 140 150 160 170 180 PLEYRHVRLC ARDAFLSQEL LYKEETLDEI AQMMVYVPKE EQLFSSQGCK SISQRINYFL S

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00301631. IPI00386008. IPI00737378.
RefSeq	NP_071766.2. NM_022371.3.
UniGene	Hs.584957.
3D structure databases
ProteinModelPortal	Q9H497.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-59333N.
STRING	9606.ENSP00000356599.
PTM databases
PhosphoSite	Q9H497.
Polymorphism databases
DMDM	74752636.
Proteomic databases
PaxDb	Q9H497.
PRIDE	Q9H497.
Protocols and materials databases
DNASU	64222.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000352445; ENSP00000335351; ENSG00000186283. ENST00000367627; ENSP00000356599; ENSG00000186283.
GeneID	64222.
KEGG	hsa:64222.
UCSC	uc001gmd.3. human. uc010pnd.2. human.
Organism-specific databases
CTD	64222.
GeneCards	GC01P179050.
H-InvDB	HIX0001373.
HGNC	HGNC:11997. TOR3A.
HPA	HPA028766.
MIM	607555. gene.
neXtProt	NX_Q9H497.
PharmGKB	PA36678.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG294957.
HOVERGEN	HBG054188.
InParanoid	Q9H497.
OMA	VDLYKEQ.
OrthoDB	EOG480HWZ.
PhylomeDB	Q9H497.
Gene expression databases
ArrayExpress	Q9H497.
Bgee	Q9H497.
CleanEx	HS_TOR3A.
Genevestigator	Q9H497.
GermOnline	ENSG00000186283. Homo sapiens.
Family and domain databases
InterPro	IPR010448. Torsin. [Graphical view]
PANTHER	PTHR10760. PTHR10760. 1 hit.
Pfam	PF06309. Torsin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TOR3A. human.
GenomeRNAi	64222.
NextBio	66151.
SOURCE	Search...

Entry information

Entry name

TOR3A_HUMAN

Accession

Primary (citable) accession number: Q9H497
Secondary accession number(s): B4DSY0 , B7ZB65, Q5M7Y7, Q8WVA7, Q8WWM2, Q9H495, Q9H6E7

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 21, 2006
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 83 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.