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Q9H497 (TOR3A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 94. 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-3A
Alternative name(s):
ATP-dependent interferon-responsive protein
Torsin family 3 member A
Gene names
Name:TOR3A
Synonyms:ADIR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length397 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

May not form homohexamers. Ref.6

Subcellular location

Cytoplasm. Endoplasmic reticulum lumen Ref.1 Ref.6.

Tissue specificity

Ubiquitously expressed. Highest expression in stomach, salivary glands and lymph nodes. Isoform 2 is expressed in placenta. Ref.1

Post-translational modification

N-glycosylated. Ref.6

Sequence similarities

Belongs to the ClpA/ClpB family. Torsin subfamily.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Chain26 – 397372Torsin-3A
PRO_0000228147

Regions

Nucleotide binding167 – 1748ATP Potential

Amino acid modifications

Glycosylation1221N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 216216Missing in isoform 3.
VSP_017665
Alternative sequence315 – 33622DNGFG…FIPFL → GFSFLTTRWPHLDLPTSSVA PT in isoform 2.
VSP_017666
Alternative sequence337 – 39761Missing in isoform 2.
VSP_017667
Natural variant131F → L. Ref.2 Ref.3 Ref.5
Corresponds to variant rs2296377 [ dbSNP | Ensembl ].
VAR_025697

Experimental info

Mutagenesis2361E → Q: No effect on subcellular location. Ref.6
Sequence conflict2721L → P in AAH18292. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (ADIR1) [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 459CD18EA22709FE

FASTA39746,199
        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 

« Hide

Isoform 2 (ADIR2) [UniParc].

Checksum: 0053B78AF4FE967C
Show »

FASTA33638,807
Isoform 3 [UniParc].

Checksum: 7AEBCC4558ABFF73
Show »

FASTA18121,180

References

« Hide '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. 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] (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. expand/collapse author list , 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]"Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA."
Jungwirth M., Dear M.L., Brown P., Holbrook K., Goodchild R.
Hum. Mol. Genet. 19:888-900(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, SUBUNIT, MUTAGENESIS OF GLU-236.
[7]"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 expand/collapse EMBL AC list , AJ318045, AJ318046, AJ318047, AJ318048, AJ318049 Genomic DNA. Translation: CAC88129.1.
AJ318044 expand/collapse EMBL AC list , 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.
CCDSCCDS1329.1. [Q9H497-1]
RefSeqNP_071766.2. NM_022371.3. [Q9H497-1]
XP_006711548.1. XM_006711485.1. [Q9H497-3]
UniGeneHs.584957.

3D structure databases

ProteinModelPortalQ9H497.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122112. 2 interactions.
DIPDIP-59333N.
STRING9606.ENSP00000356599.

PTM databases

PhosphoSiteQ9H497.

Polymorphism databases

DMDM74752636.

Proteomic databases

MaxQBQ9H497.
PaxDbQ9H497.
PRIDEQ9H497.

Protocols and materials databases

DNASU64222.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000352445; ENSP00000335351; ENSG00000186283. [Q9H497-2]
ENST00000367627; ENSP00000356599; ENSG00000186283. [Q9H497-1]
GeneID64222.
KEGGhsa:64222.
UCSCuc001gmd.3. human. [Q9H497-1]
uc010pnd.2. human. [Q9H497-3]

Organism-specific databases

CTD64222.
GeneCardsGC01P179050.
H-InvDBHIX0001373.
HGNCHGNC:11997. TOR3A.
HPAHPA028766.
MIM607555. gene.
neXtProtNX_Q9H497.
PharmGKBPA36678.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG294957.
HOVERGENHBG054188.
InParanoidQ9H497.
OMAVDLYKEQ.
OrthoDBEOG7TF791.
PhylomeDBQ9H497.
TreeFamTF314941.

Gene expression databases

ArrayExpressQ9H497.
BgeeQ9H497.
CleanExHS_TOR3A.
GenevestigatorQ9H497.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR027417. P-loop_NTPase.
IPR010448. Torsin.
[Graphical view]
PANTHERPTHR10760. PTHR10760. 1 hit.
PfamPF06309. Torsin. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
ProtoNetSearch...

Other

ChiTaRSTOR3A. human.
GenomeRNAi64222.
NextBio66151.
PROQ9H497.
SOURCESearch...

Entry information

Entry nameTOR3A_HUMAN
AccessionPrimary (citable) accession number: Q9H497
Secondary accession number(s): B4DSY0 expand/collapse secondary AC list , B7ZB65, Q5M7Y7, Q8WVA7, Q8WWM2, Q9H495, Q9H6E7
Entry history
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 94 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 1

Human chromosome 1: entries, gene names and cross-references to MIM