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Protein

Torsin-2A

Gene

TOR2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi93 – 100ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Torsin-2A
Alternative name(s):
Torsin family 2 member A
Torsin-related protein 1
Gene namesi
Name:TOR2A
Synonyms:TORP1
ORF Names:UNQ6408/PRO21181
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000160404.17
HGNCiHGNC:11996 TOR2A
MIMi608052 gene
neXtProtiNX_Q5JU69

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

DisGeNETi27433
OpenTargetsiENSG00000160404
PharmGKBiPA36677

Polymorphism and mutation databases

BioMutaiTTC16
DMDMi74742272

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000022882927 – 321Torsin-2AAdd BLAST295

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi149N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ5JU69
PaxDbiQ5JU69
PeptideAtlasiQ5JU69
PRIDEiQ5JU69
ProteomicsDBi63257
63258 [Q5JU69-2]
63259 [Q5JU69-5]

PTM databases

GlyConnecti1825
iPTMnetiQ5JU69
PhosphoSitePlusiQ5JU69

Expressioni

Tissue specificityi

Isoform 1 is expressed ubiquitously, except in cardiac and endothelial tissues.1 Publication

Gene expression databases

BgeeiENSG00000160404 Expressed in 117 organ(s), highest expression level in oocyte
CleanExiHS_TOR2A
ExpressionAtlasiQ5JU69 baseline and differential
GenevisibleiQ5JU69 HS

Organism-specific databases

HPAiHPA071229

Interactioni

Subunit structurei

Homohexamer. Interacts with TOR1AIP1 (By similarity).By similarity

Protein-protein interaction databases

BioGridi118167, 4 interactors
DIPiDIP-59332N
IntActiQ5JU69, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliQ5JU69
SMRiQ5JU69
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
InParanoidiQ5JU69
OMAiNLTACSR
OrthoDBiEOG091G0B5F
PhylomeDBiQ5JU69
TreeFamiTF314941

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR001270 ClpA/B
IPR027417 P-loop_NTPase
IPR010448 Torsin
IPR017378 Torsin_1/2
PANTHERiPTHR10760 PTHR10760, 1 hit
PfamiView protein in Pfam
PF06309 Torsin, 1 hit
PIRSFiPIRSF038079 Torsin_2A, 1 hit
PRINTSiPR00300 CLPPROTEASEA
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit

Sequences (4)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q5JU69-1) [UniParc]FASTAAdd to basket

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
MAAATRGCRP WGSLLGLLGL VSAAAAAWDL ASLRCTLGAF CECDFRPDLP
60 70 80 90 100
GLECDLAQHL AGQHLAKALV VKALKAFVRD PAPTKPLVLS LHGWTGTGKS
110 120 130 140 150
YVSSLLAHYL FQGGLRSPRV HHFSPVLHFP HPSHIERYKK DLKSWVQGNL
160 170 180 190 200
TACGRSLFLF DEMDKMPPGL MEVLRPFLGS SWVVYGTNYR KAIFIFISNT
210 220 230 240 250
GGKQINQVAL EAWRSRRDRE EILLQELEPV ISRAVLDNPH HGFSNSGIME
260 270 280 290 300
ERLLDAVVPF LPLQRHHVRH CVLNELAQLG LEPRDEVVQA VLDSTTFFPE
310 320
DEQLFSSNGC KTVASRIAFF L
Length:321
Mass (Da):35,714
Last modified:February 15, 2005 - v1
Checksum:i93F4DACF3CA0EA02
GO
Isoform 2 (identifier: Q5JU69-2) [UniParc]FASTAAdd to basket

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.Curated
Show »
Length:253
Mass (Da):27,867
Checksum:i331B866D2E06D1C5
GO
Isoform 3 (identifier: Q5JU69-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     51-72: GLECDLAQHLAGQHLAKALVVK → EGSEELGPREPHCLWPLPLPLR
     73-321: Missing.

Note: No experimental confirmation available.
Show »
Length:72
Mass (Da):7,704
Checksum:iF0712C4F9A299FAA
GO
Isoform 4 (identifier: Q8N2E6-1) [UniParc]FASTAAdd to basket
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.
Length:242
Mass (Da):26,262
GO

Sequence cautioni

The sequence AAH80527 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated
The sequence AAI00908 differs from that shown. Probable cloning artifact.Curated
The sequence AAI00909 differs from that shown. Probable cloning artifact.Curated
The sequence AAI00910 differs from that shown. Probable cloning artifact.Curated
The sequence AAI00911 differs from that shown. Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q5JU69-2)
Sequence conflicti208W → C in BAB55288 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055661203K → E1 PublicationCorresponds to variant dbSNP:rs538066Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03563151 – 72GLECD…ALVVK → EGSEELGPREPHCLWPLPLP LR in isoform 3. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_03563273 – 321Missing in isoform 3. 1 PublicationAdd BLAST249
Alternative sequenceiVSP_017703198 – 253SNTGG…MEERL → RWGPALQWAQWGGHFSEVQL YSLSLCSQQNPVPHGLSWAF PVPSATLRDDIVIPPG in isoform 2. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_017704254 – 321Missing in isoform 2. 1 PublicationAdd BLAST68

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358180 mRNA Translation: AAQ88547.1
AK027677 mRNA Translation: BAB55288.1
AL162426 Genomic DNA No translation available.
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.
CCDSiCCDS43879.1 [Q5JU69-1]
CCDS48025.1 [Q5JU69-5]
CCDS6876.1 [Q5JU69-2]
RefSeqiNP_001078816.1, NM_001085347.2
NP_001127902.1, NM_001134430.2
NP_001127903.1, NM_001134431.2 [Q5JU69-5]
NP_001238947.1, NM_001252018.1
NP_001238950.1, NM_001252021.1
NP_001238952.1, NM_001252023.1
NP_569726.2, NM_130459.3 [Q5JU69-2]
UniGeneiHs.444106

Genome annotation databases

EnsembliENST00000373281; ENSP00000362378; ENSG00000160404 [Q5JU69-2]
ENST00000373284; ENSP00000362381; ENSG00000160404 [Q5JU69-1]
ENST00000463256; ENSP00000485648; ENSG00000160404 [Q5JU69-5]
ENST00000463577; ENSP00000485268; ENSG00000160404 [Q5JU69-5]
ENST00000493439; ENSP00000485360; ENSG00000160404 [Q5JU69-5]
ENST00000496460; ENSP00000485544; ENSG00000160404 [Q5JU69-5]
GeneIDi27433
KEGGihsa:27433
UCSCiuc004brs.5 human [Q5JU69-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358180 mRNA Translation: AAQ88547.1
AK027677 mRNA Translation: BAB55288.1
AL162426 Genomic DNA No translation available.
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.
CCDSiCCDS43879.1 [Q5JU69-1]
CCDS48025.1 [Q5JU69-5]
CCDS6876.1 [Q5JU69-2]
RefSeqiNP_001078816.1, NM_001085347.2
NP_001127902.1, NM_001134430.2
NP_001127903.1, NM_001134431.2 [Q5JU69-5]
NP_001238947.1, NM_001252018.1
NP_001238950.1, NM_001252021.1
NP_001238952.1, NM_001252023.1
NP_569726.2, NM_130459.3 [Q5JU69-2]
UniGeneiHs.444106

3D structure databases

ProteinModelPortaliQ5JU69
SMRiQ5JU69
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118167, 4 interactors
DIPiDIP-59332N
IntActiQ5JU69, 1 interactor

PTM databases

GlyConnecti1825
iPTMnetiQ5JU69
PhosphoSitePlusiQ5JU69

Polymorphism and mutation databases

BioMutaiTTC16
DMDMi74742272

Proteomic databases

EPDiQ5JU69
PaxDbiQ5JU69
PeptideAtlasiQ5JU69
PRIDEiQ5JU69
ProteomicsDBi63257
63258 [Q5JU69-2]
63259 [Q5JU69-5]

Protocols and materials databases

DNASUi27433
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373281; ENSP00000362378; ENSG00000160404 [Q5JU69-2]
ENST00000373284; ENSP00000362381; ENSG00000160404 [Q5JU69-1]
ENST00000463256; ENSP00000485648; ENSG00000160404 [Q5JU69-5]
ENST00000463577; ENSP00000485268; ENSG00000160404 [Q5JU69-5]
ENST00000493439; ENSP00000485360; ENSG00000160404 [Q5JU69-5]
ENST00000496460; ENSP00000485544; ENSG00000160404 [Q5JU69-5]
GeneIDi27433
KEGGihsa:27433
UCSCiuc004brs.5 human [Q5JU69-1]

Organism-specific databases

CTDi27433
DisGeNETi27433
EuPathDBiHostDB:ENSG00000160404.17
GeneCardsiTOR2A
HGNCiHGNC:11996 TOR2A
HPAiHPA071229
MIMi608052 gene
neXtProtiNX_Q5JU69
OpenTargetsiENSG00000160404
PharmGKBiPA36677
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2170 Eukaryota
ENOG410XR06 LUCA
GeneTreeiENSGT00390000001920
HOVERGENiHBG054188
InParanoidiQ5JU69
OMAiNLTACSR
OrthoDBiEOG091G0B5F
PhylomeDBiQ5JU69
TreeFamiTF314941

Miscellaneous databases

GeneWikiiTOR2A
GenomeRNAii27433
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160404 Expressed in 117 organ(s), highest expression level in oocyte
CleanExiHS_TOR2A
ExpressionAtlasiQ5JU69 baseline and differential
GenevisibleiQ5JU69 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR001270 ClpA/B
IPR027417 P-loop_NTPase
IPR010448 Torsin
IPR017378 Torsin_1/2
PANTHERiPTHR10760 PTHR10760, 1 hit
PfamiView protein in Pfam
PF06309 Torsin, 1 hit
PIRSFiPIRSF038079 Torsin_2A, 1 hit
PRINTSiPR00300 CLPPROTEASEA
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTOR2A_HUMAN
AccessioniPrimary (citable) accession number: Q5JU69
Secondary accession number(s): A4FU12
, A4FU13, Q3ZCN9, Q3ZCP0, Q5JU68, Q66K87, Q6UXW6, Q8NAN5, Q96SL7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: February 15, 2005
Last modified: November 7, 2018
This is version 126 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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