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Q9H497

- TOR3A_HUMAN

UniProt

Q9H497 - TOR3A_HUMAN

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Protein
Torsin-3A
Gene
TOR3A, ADIR
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi167 – 1748ATP Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. ATPase activity Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: UniProtKB
  2. chaperone mediated protein folding requiring cofactor Source: InterPro
Complete GO annotation...

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Torsin-3A
Alternative name(s):
ATP-dependent interferon-responsive protein
Torsin family 3 member A
Gene namesi
Name:TOR3A
Synonyms:ADIR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:11997. TOR3A.

Subcellular locationi

Cytoplasm. Endoplasmic reticulum lumen 2 Publications

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProt
  2. endoplasmic reticulum lumen Source: UniProt
  3. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi236 – 2361E → Q: No effect on subcellular location. 1 Publication

Organism-specific databases

PharmGKBiPA36678.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525 Reviewed prediction
Add
BLAST
Chaini26 – 397372Torsin-3A
PRO_0000228147Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi122 – 1221N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9H497.
PaxDbiQ9H497.
PRIDEiQ9H497.

PTM databases

PhosphoSiteiQ9H497.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ9H497.
BgeeiQ9H497.
CleanExiHS_TOR3A.
GenevestigatoriQ9H497.

Organism-specific databases

HPAiHPA028766.

Interactioni

Subunit structurei

May not form homohexamers.1 Publication

Protein-protein interaction databases

BioGridi122112. 2 interactions.
DIPiDIP-59333N.
STRINGi9606.ENSP00000356599.

Structurei

3D structure databases

ProteinModelPortaliQ9H497.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG294957.
HOVERGENiHBG054188.
InParanoidiQ9H497.
OMAiVDLYKEQ.
OrthoDBiEOG7TF791.
PhylomeDBiQ9H497.
TreeFamiTF314941.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR010448. Torsin.
[Graphical view]
PANTHERiPTHR10760. PTHR10760. 1 hit.
PfamiPF06309. Torsin. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9H497-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MLRGPWRQLW LFFLLLLPGA PEPRGASRPW EGTDEPGSAW AWPGFQRLQE    50
QLRAAGALSK RYWTLFSCQV WPDDCDEDEE AATGPLGWRL PLLGQRYLDL 100
LTTWYCSFKD CCPRGDCRIS NNFTGLEWDL NVRLHGQHLV QQLVLRTVRG 150
YLETPQPEKA LALSFHGWSG TGKNFVARML VENLYRDGLM SDCVRMFIAT 200
FHFPHPKYVD LYKEQLMSQI RETQQLCHQT LFIFDEAEKL HPGLLEVLGP 250
HLERRAPEGH RAESPWTIFL FLSNLRGDII NEVVLKLLKA GWSREEITME 300
HLEPHLQAEI VETIDNGFGH SRLVKENLID YFIPFLPLEY RHVRLCARDA 350
FLSQELLYKE ETLDEIAQMM VYVPKEEQLF SSQGCKSISQ RINYFLS 397
Length:397
Mass (Da):46,199
Last modified:March 1, 2001 - v1
Checksum:i459CD18EA22709FE
GO
Isoform 2 (identifier: Q9H497-2) [UniParc]FASTAAdd to Basket

Also known as: ADIR2

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

Show »
Length:336
Mass (Da):38,807
Checksum:i0053B78AF4FE967C
GO
Isoform 3 (identifier: Q9H497-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:181
Mass (Da):21,180
Checksum:i7AEBCC4558ABFF73
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131F → L.3 Publications
Corresponds to variant rs2296377 [ dbSNP | Ensembl ].
VAR_025697

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 216216Missing in isoform 3.
VSP_017665Add
BLAST
Alternative sequencei315 – 33622DNGFG…FIPFL → GFSFLTTRWPHLDLPTSSVA PT in isoform 2.
VSP_017666Add
BLAST
Alternative sequencei337 – 39761Missing in isoform 2.
VSP_017667Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti272 – 2721L → P in AAH18292. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1329.1. [Q9H497-1]
RefSeqiNP_071766.2. NM_022371.3. [Q9H497-1]
XP_006711548.1. XM_006711485.1. [Q9H497-3]
UniGeneiHs.584957.

Genome annotation databases

EnsembliENST00000352445; ENSP00000335351; ENSG00000186283. [Q9H497-2]
ENST00000367627; ENSP00000356599; ENSG00000186283. [Q9H497-1]
GeneIDi64222.
KEGGihsa:64222.
UCSCiuc001gmd.3. human. [Q9H497-1]
uc010pnd.2. human. [Q9H497-3]

Polymorphism databases

DMDMi74752636.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS1329.1. [Q9H497-1 ]
RefSeqi NP_071766.2. NM_022371.3. [Q9H497-1 ]
XP_006711548.1. XM_006711485.1. [Q9H497-3 ]
UniGenei Hs.584957.

3D structure databases

ProteinModelPortali Q9H497.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122112. 2 interactions.
DIPi DIP-59333N.
STRINGi 9606.ENSP00000356599.

PTM databases

PhosphoSitei Q9H497.

Polymorphism databases

DMDMi 74752636.

Proteomic databases

MaxQBi Q9H497.
PaxDbi Q9H497.
PRIDEi Q9H497.

Protocols and materials databases

DNASUi 64222.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000352445 ; ENSP00000335351 ; ENSG00000186283 . [Q9H497-2 ]
ENST00000367627 ; ENSP00000356599 ; ENSG00000186283 . [Q9H497-1 ]
GeneIDi 64222.
KEGGi hsa:64222.
UCSCi uc001gmd.3. human. [Q9H497-1 ]
uc010pnd.2. human. [Q9H497-3 ]

Organism-specific databases

CTDi 64222.
GeneCardsi GC01P179050.
H-InvDB HIX0001373.
HGNCi HGNC:11997. TOR3A.
HPAi HPA028766.
MIMi 607555. gene.
neXtProti NX_Q9H497.
PharmGKBi PA36678.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG294957.
HOVERGENi HBG054188.
InParanoidi Q9H497.
OMAi VDLYKEQ.
OrthoDBi EOG7TF791.
PhylomeDBi Q9H497.
TreeFami TF314941.

Miscellaneous databases

ChiTaRSi TOR3A. human.
GenomeRNAii 64222.
NextBioi 66151.
PROi Q9H497.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H497.
Bgeei Q9H497.
CleanExi HS_TOR3A.
Genevestigatori Q9H497.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR027417. P-loop_NTPase.
IPR010448. Torsin.
[Graphical view ]
PANTHERi PTHR10760. PTHR10760. 1 hit.
Pfami PF06309. Torsin. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. "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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiTOR3A_HUMAN
AccessioniPrimary (citable) accession number: Q9H497
Secondary accession number(s): B4DSY0
, B7ZB65, Q5M7Y7, Q8WVA7, Q8WWM2, Q9H495, Q9H6E7
Entry historyi
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 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 1
    Human chromosome 1: 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

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