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Protein

Torsin-2A

Gene

TOR2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Regions

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

ATP-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

HGNCiHGNC:11996. TOR2A.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum lumen Source: MGI
Complete GO annotation...

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...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ5JU69.
PaxDbiQ5JU69.
PeptideAtlasiQ5JU69.
PRIDEiQ5JU69.

PTM databases

iPTMnetiQ5JU69.
PhosphoSitePlusiQ5JU69.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000160404.
CleanExiHS_TOR2A.
ExpressionAtlasiQ5JU69. baseline and differential.
GenevisibleiQ5JU69. HS.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi118167. 3 interactors.
DIPiDIP-59332N.
STRINGi9606.ENSP00000362381.

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.
OMAiAWDLTSL.
OrthoDBiEOG091G0B5F.
PhylomeDBiQ5JU69.
TreeFamiTF314941.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR001270. ClpA/B.
IPR027417. P-loop_NTPase.
IPR010448. Torsin.
IPR017378. Torsin_1/2.
[Graphical view]
PANTHERiPTHR10760. PTHR10760. 1 hit.
PfamiPF06309. Torsin. 1 hit.
[Graphical view]
PIRSFiPIRSF038079. Torsin_2A. 1 hit.
PRINTSiPR00300. CLPPROTEASEA.
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
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 → E.1 PublicationCorresponds to variant rs538066dbSNPEnsembl.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. Translation: CAI41186.1.
AL162426 Genomic DNA. Translation: CAI41187.1.
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

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. Translation: CAI41186.1.
AL162426 Genomic DNA. Translation: CAI41187.1.
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. 3 interactors.
DIPiDIP-59332N.
STRINGi9606.ENSP00000362381.

PTM databases

iPTMnetiQ5JU69.
PhosphoSitePlusiQ5JU69.

Polymorphism and mutation databases

BioMutaiTTC16.
DMDMi74742272.

Proteomic databases

EPDiQ5JU69.
PaxDbiQ5JU69.
PeptideAtlasiQ5JU69.
PRIDEiQ5JU69.

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.
GeneCardsiTOR2A.
HGNCiHGNC:11996. TOR2A.
MIMi608052. gene.
neXtProtiNX_Q5JU69.
OpenTargetsiENSG00000160404.
PharmGKBiPA36677.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2170. Eukaryota.
ENOG410XR06. LUCA.
GeneTreeiENSGT00390000001920.
HOVERGENiHBG054188.
InParanoidiQ5JU69.
OMAiAWDLTSL.
OrthoDBiEOG091G0B5F.
PhylomeDBiQ5JU69.
TreeFamiTF314941.

Miscellaneous databases

GeneWikiiTOR2A.
GenomeRNAii27433.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160404.
CleanExiHS_TOR2A.
ExpressionAtlasiQ5JU69. baseline and differential.
GenevisibleiQ5JU69. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR001270. ClpA/B.
IPR027417. P-loop_NTPase.
IPR010448. Torsin.
IPR017378. Torsin_1/2.
[Graphical view]
PANTHERiPTHR10760. PTHR10760. 1 hit.
PfamiPF06309. Torsin. 1 hit.
[Graphical view]
PIRSFiPIRSF038079. Torsin_2A. 1 hit.
PRINTSiPR00300. CLPPROTEASEA.
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: February 15, 2005
Last modified: November 30, 2016
This is version 111 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 9
    Human chromosome 9: 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.