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Protein

Torsin-3A

Gene

TOR3A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi167 – 174ATPSequence analysis8

GO - Molecular functioni

  • ATPase activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
Complete GO annotation...

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:G66-32274-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:11997. TOR3A.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum lumen Source: UniProtKB
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi236E → Q: No effect on subcellular location. 1 Publication1

Organism-specific databases

DisGeNETi64222.
OpenTargetsiENSG00000186283.
PharmGKBiPA36678.

Polymorphism and mutation databases

BioMutaiTOR3A.
DMDMi74752636.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000022814726 – 397Torsin-3AAdd BLAST372

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi122N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9H497.
MaxQBiQ9H497.
PaxDbiQ9H497.
PeptideAtlasiQ9H497.
PRIDEiQ9H497.

PTM databases

iPTMnetiQ9H497.
PhosphoSitePlusiQ9H497.

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

BgeeiENSG00000186283.
CleanExiHS_TOR3A.
ExpressionAtlasiQ9H497. baseline and differential.
GenevisibleiQ9H497. HS.

Organism-specific databases

HPAiHPA028766.

Interactioni

Subunit structurei

May not form homohexamers.1 Publication

Protein-protein interaction databases

BioGridi122112. 26 interactors.
DIPiDIP-59333N.
IntActiQ9H497. 1 interactor.
STRINGi9606.ENSP00000356599.

Structurei

3D structure databases

ProteinModelPortaliQ9H497.
SMRiQ9H497.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ClpA/ClpB family. Torsin subfamily.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2170. Eukaryota.
ENOG410XR06. LUCA.
GeneTreeiENSGT00390000001920.
HOVERGENiHBG054188.
InParanoidiQ9H497.
OMAiMFIATFH.
OrthoDBiEOG091G0B5F.
PhylomeDBiQ9H497.
TreeFamiTF314941.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR010448. Torsin.
IPR030552. Torsin-3A.
[Graphical view]
PANTHERiPTHR10760. PTHR10760. 1 hit.
PTHR10760:SF3. PTHR10760:SF3. 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. AlignAdd to basket

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

        10         20         30         40         50
MLRGPWRQLW LFFLLLLPGA PEPRGASRPW EGTDEPGSAW AWPGFQRLQE
60 70 80 90 100
QLRAAGALSK RYWTLFSCQV WPDDCDEDEE AATGPLGWRL PLLGQRYLDL
110 120 130 140 150
LTTWYCSFKD CCPRGDCRIS NNFTGLEWDL NVRLHGQHLV QQLVLRTVRG
160 170 180 190 200
YLETPQPEKA LALSFHGWSG TGKNFVARML VENLYRDGLM SDCVRMFIAT
210 220 230 240 250
FHFPHPKYVD LYKEQLMSQI RETQQLCHQT LFIFDEAEKL HPGLLEVLGP
260 270 280 290 300
HLERRAPEGH RAESPWTIFL FLSNLRGDII NEVVLKLLKA GWSREEITME
310 320 330 340 350
HLEPHLQAEI VETIDNGFGH SRLVKENLID YFIPFLPLEY RHVRLCARDA
360 370 380 390
FLSQELLYKE ETLDEIAQMM VYVPKEEQLF SSQGCKSISQ RINYFLS
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti272L → P in AAH18292 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02569713F → L.3 PublicationsCorresponds to variant rs2296377dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0176651 – 216Missing in isoform 3. 2 PublicationsAdd BLAST216
Alternative sequenceiVSP_017666315 – 336DNGFG…FIPFL → GFSFLTTRWPHLDLPTSSVA PT in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_017667337 – 397Missing in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
UniGeneiHs.584957.

Genome annotation databases

EnsembliENST00000352445; ENSP00000335351; ENSG00000186283. [Q9H497-2]
ENST00000367627; ENSP00000356599; ENSG00000186283. [Q9H497-1]
GeneIDi64222.
KEGGihsa:64222.
UCSCiuc001gmd.4. human. [Q9H497-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
UniGeneiHs.584957.

3D structure databases

ProteinModelPortaliQ9H497.
SMRiQ9H497.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122112. 26 interactors.
DIPiDIP-59333N.
IntActiQ9H497. 1 interactor.
STRINGi9606.ENSP00000356599.

PTM databases

iPTMnetiQ9H497.
PhosphoSitePlusiQ9H497.

Polymorphism and mutation databases

BioMutaiTOR3A.
DMDMi74752636.

Proteomic databases

EPDiQ9H497.
MaxQBiQ9H497.
PaxDbiQ9H497.
PeptideAtlasiQ9H497.
PRIDEiQ9H497.

Protocols and materials databases

DNASUi64222.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000352445; ENSP00000335351; ENSG00000186283. [Q9H497-2]
ENST00000367627; ENSP00000356599; ENSG00000186283. [Q9H497-1]
GeneIDi64222.
KEGGihsa:64222.
UCSCiuc001gmd.4. human. [Q9H497-1]

Organism-specific databases

CTDi64222.
DisGeNETi64222.
GeneCardsiTOR3A.
H-InvDBHIX0001373.
HGNCiHGNC:11997. TOR3A.
HPAiHPA028766.
MIMi607555. gene.
neXtProtiNX_Q9H497.
OpenTargetsiENSG00000186283.
PharmGKBiPA36678.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2170. Eukaryota.
ENOG410XR06. LUCA.
GeneTreeiENSGT00390000001920.
HOVERGENiHBG054188.
InParanoidiQ9H497.
OMAiMFIATFH.
OrthoDBiEOG091G0B5F.
PhylomeDBiQ9H497.
TreeFamiTF314941.

Enzyme and pathway databases

BioCyciZFISH:G66-32274-MONOMER.

Miscellaneous databases

ChiTaRSiTOR3A. human.
GenomeRNAii64222.
PROiQ9H497.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186283.
CleanExiHS_TOR3A.
ExpressionAtlasiQ9H497. baseline and differential.
GenevisibleiQ9H497. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR010448. Torsin.
IPR030552. Torsin-3A.
[Graphical view]
PANTHERiPTHR10760. PTHR10760. 1 hit.
PTHR10760:SF3. PTHR10760:SF3. 1 hit.
PfamiPF06309. Torsin. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
ProtoNetiSearch...

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: November 30, 2016
This is version 114 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.