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Protein

Torsin-1A-interacting protein 1

Gene

TOR1AIP1

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

Functioni

Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.1 Publication

GO - Molecular functioni

  • ATPase activator activity Source: UniProtKB
  • ATPase binding Source: UniProtKB
  • cytoskeletal protein binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Torsin-1A-interacting protein 1
Alternative name(s):
Lamin-associated protein 1B
Short name:
LAP1B
Gene namesi
Name:TOR1AIP1
Synonyms:LAP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:29456. TOR1AIP1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 338NuclearSequence analysisAdd BLAST338
Transmembranei339 – 355HelicalSequence analysisAdd BLAST17
Topological domaini356 – 583Perinuclear spaceSequence analysisAdd BLAST228

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • nuclear inner membrane Source: UniProtKB-SubCell
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi26092.
OpenTargetsiENSG00000143337.
PharmGKBiPA142670715.

Polymorphism and mutation databases

BioMutaiTOR1AIP1.
DMDMi90101788.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002288351 – 583Torsin-1A-interacting protein 1Add BLAST583

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei60PhosphoserineBy similarity1
Modified residuei135PhosphoserineCombined sources1
Modified residuei143PhosphoserineCombined sources1
Modified residuei154PhosphoserineCombined sources1
Modified residuei156PhosphoserineCombined sources1
Modified residuei157PhosphoserineCombined sources1
Modified residuei186PhosphoserineCombined sources1
Modified residuei215PhosphoserineCombined sources1
Modified residuei220PhosphothreonineCombined sources1
Modified residuei227PhosphoserineCombined sources1
Modified residuei230PhosphoserineBy similarity1
Modified residuei242PhosphoserineBy similarity1
Modified residuei305PhosphoserineCombined sources1
Modified residuei315PhosphoserineCombined sources1
Glycosylationi399N-linked (GlcNAc...)1 Publication1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ5JTV8.
MaxQBiQ5JTV8.
PaxDbiQ5JTV8.
PeptideAtlasiQ5JTV8.
PRIDEiQ5JTV8.

PTM databases

iPTMnetiQ5JTV8.
PhosphoSitePlusiQ5JTV8.
SwissPalmiQ5JTV8.

Miscellaneous databases

PMAP-CutDBQ5JTV8.

Expressioni

Gene expression databases

BgeeiENSG00000143337.
CleanExiHS_TOR1AIP1.
ExpressionAtlasiQ5JTV8. baseline and differential.
GenevisibleiQ5JTV8. HS.

Organism-specific databases

HPAiHPA047151.
HPA050546.

Interactioni

Subunit structurei

Interacts with ATP1B4. Interacts with TOR1A (ATP-bound). Interacts with TOR1B, TOR2A and TOR3A. Interacts with VIM.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
TERF2IPQ9NYB02EBI-2559665,EBI-750109

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • cytoskeletal protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi117543. 53 interactors.
DIPiDIP-56692N.
IntActiQ5JTV8. 33 interactors.
STRINGi9606.ENSP00000393292.

Structurei

Secondary structure

1583
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi363 – 378Combined sources16
Helixi384 – 398Combined sources15
Beta strandi408 – 414Combined sources7
Helixi416 – 418Combined sources3
Helixi419 – 434Combined sources16
Helixi435 – 437Combined sources3
Beta strandi442 – 445Combined sources4
Helixi446 – 448Combined sources3
Turni449 – 451Combined sources3
Helixi454 – 470Combined sources17
Beta strandi475 – 479Combined sources5
Helixi481 – 483Combined sources3
Helixi486 – 490Combined sources5
Helixi491 – 496Combined sources6
Turni498 – 500Combined sources3
Beta strandi507 – 513Combined sources7
Beta strandi515 – 517Combined sources3
Helixi525 – 542Combined sources18
Beta strandi548 – 550Combined sources3
Helixi554 – 564Combined sources11
Beta strandi566 – 570Combined sources5
Helixi575 – 577Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4TVSX-ray1.60A/B356-583[»]
ProteinModelPortaliQ5JTV8.
SMRiQ5JTV8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni356 – 583Interaction with TOR1AAdd BLAST228

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili359 – 435Sequence analysisAdd BLAST77

Sequence similaritiesi

Belongs to the TOR1AIP family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJUB. Eukaryota.
ENOG4111IZJ. LUCA.
GeneTreeiENSGT00390000012166.
HOVERGENiHBG083152.
InParanoidiQ5JTV8.
PhylomeDBiQ5JTV8.
TreeFamiTF329438.

Family and domain databases

InterProiIPR008662. Lamina-ass_polypeptide_CLAP1C.
[Graphical view]
PfamiPF05609. LAP1C. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5JTV8-1) [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
MAGDGRRAEA VREGWGVYVT PRAPIREGRG RLAPQNGGSS DAPAYRTPPS
60 70 80 90 100
RQGRREVRFS DEPPEVYGDF EPLVAKERSP VGKRTRLEEF RSDSAKEEVR
110 120 130 140 150
ESAYYLRSRQ RRQPRPQETE EMKTRRTTRL QQQHSEQPPL QPSPVMTRRG
160 170 180 190 200
LRDSHSSEED EASSQTDLSQ TISKKTVRSI QEAPVSEDLV IRLRRPPLRY
210 220 230 240 250
PRYEATSVQQ KVNFSEEGET EEDDQDSSHS SVTTVKARSR DSDESGDKTT
260 270 280 290 300
RSSSQYIESF WQSSQSQNFT AHDKQPSVLS SGYQKTPQEW APQTARIRTR
310 320 330 340 350
MQNDSILKSE LGNQSPSTSS RQVTGQPQNA SFVKRNRWWL LPLIAALASG
360 370 380 390 400
SFWFFSTPEV ETTAVQEFQN QMNQLKNKYQ GQDEKLWKRS QTFLEKHLNS
410 420 430 440 450
SHPRSQPAIL LLTAARDAEE ALRCLSEQIA DAYSSFRSVR AIRIDGTDKA
460 470 480 490 500
TQDSDTVKLE VDQELSNGFK NGQNAAVVHR FESFPAGSTL IFYKYCDHEN
510 520 530 540 550
AAFKDVALVL TVLLEEETLG TSLGLKEVEE KVRDFLKVKF TNSNTPNSYN
560 570 580
HMDPDKLNGL WSRISHLVLP VQPENALKRG ICL
Length:583
Mass (Da):66,248
Last modified:March 21, 2006 - v2
Checksum:i3EE90CAAF49054FC
GO
Isoform 2 (identifier: Q5JTV8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     184-184: P → PA
     283-487: Missing.

Note: No experimental confirmation available.
Show »
Length:379
Mass (Da):43,090
Checksum:i2EB6838DDCE5D504
GO
Isoform 3 (identifier: Q5JTV8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     184-184: P → PA

Note: No experimental confirmation available.
Show »
Length:584
Mass (Da):66,319
Checksum:iD5BEACC6B305B89B
GO

Sequence cautioni

The sequence AAH23247 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB13855 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14461 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAF84184 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti160D → V in BAB13855 (PubMed:14702039).Curated1
Sequence conflicti200Y → C in BAB14461 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025717146M → T.Combined sources2 PublicationsCorresponds to variant rs1281378dbSNPEnsembl.1
Natural variantiVAR_035818190V → I in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs775134055dbSNPEnsembl.1
Natural variantiVAR_025718276P → R.2 PublicationsCorresponds to variant rs609521dbSNPEnsembl.1
Natural variantiVAR_034566293Q → H.Corresponds to variant rs17279712dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055704184P → PA in isoform 2 and isoform 3. 1 Publication1
Alternative sequenceiVSP_055705283 – 487Missing in isoform 2. 1 PublicationAdd BLAST205

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001780 mRNA. Translation: BAA91906.1.
AK021613 mRNA. Translation: BAB13855.1. Different initiation.
AK023204 mRNA. Translation: BAB14461.1. Different initiation.
AK291495 mRNA. Translation: BAF84184.1. Different initiation.
AL353708 Genomic DNA. Translation: CAI41051.1.
AL353708 Genomic DNA. Translation: CAQ09353.1.
BC023247 mRNA. Translation: AAH23247.1. Different initiation.
AL050126 mRNA. Translation: CAB43282.1.
CCDSiCCDS1335.1. [Q5JTV8-1]
CCDS65737.1. [Q5JTV8-3]
PIRiT08767.
RefSeqiNP_001254507.1. NM_001267578.1. [Q5JTV8-3]
NP_056417.2. NM_015602.3. [Q5JTV8-1]
UniGeneiHs.496459.

Genome annotation databases

EnsembliENST00000528443; ENSP00000435365; ENSG00000143337. [Q5JTV8-3]
ENST00000606911; ENSP00000476687; ENSG00000143337. [Q5JTV8-1]
GeneIDi26092.
KEGGihsa:26092.
UCSCiuc001gnp.3. human. [Q5JTV8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001780 mRNA. Translation: BAA91906.1.
AK021613 mRNA. Translation: BAB13855.1. Different initiation.
AK023204 mRNA. Translation: BAB14461.1. Different initiation.
AK291495 mRNA. Translation: BAF84184.1. Different initiation.
AL353708 Genomic DNA. Translation: CAI41051.1.
AL353708 Genomic DNA. Translation: CAQ09353.1.
BC023247 mRNA. Translation: AAH23247.1. Different initiation.
AL050126 mRNA. Translation: CAB43282.1.
CCDSiCCDS1335.1. [Q5JTV8-1]
CCDS65737.1. [Q5JTV8-3]
PIRiT08767.
RefSeqiNP_001254507.1. NM_001267578.1. [Q5JTV8-3]
NP_056417.2. NM_015602.3. [Q5JTV8-1]
UniGeneiHs.496459.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4TVSX-ray1.60A/B356-583[»]
ProteinModelPortaliQ5JTV8.
SMRiQ5JTV8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117543. 53 interactors.
DIPiDIP-56692N.
IntActiQ5JTV8. 33 interactors.
STRINGi9606.ENSP00000393292.

PTM databases

iPTMnetiQ5JTV8.
PhosphoSitePlusiQ5JTV8.
SwissPalmiQ5JTV8.

Polymorphism and mutation databases

BioMutaiTOR1AIP1.
DMDMi90101788.

Proteomic databases

EPDiQ5JTV8.
MaxQBiQ5JTV8.
PaxDbiQ5JTV8.
PeptideAtlasiQ5JTV8.
PRIDEiQ5JTV8.

Protocols and materials databases

DNASUi26092.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000528443; ENSP00000435365; ENSG00000143337. [Q5JTV8-3]
ENST00000606911; ENSP00000476687; ENSG00000143337. [Q5JTV8-1]
GeneIDi26092.
KEGGihsa:26092.
UCSCiuc001gnp.3. human. [Q5JTV8-1]

Organism-specific databases

CTDi26092.
DisGeNETi26092.
GeneCardsiTOR1AIP1.
H-InvDBHIX0001382.
HIX0199815.
HGNCiHGNC:29456. TOR1AIP1.
HPAiHPA047151.
HPA050546.
MIMi614512. gene.
neXtProtiNX_Q5JTV8.
OpenTargetsiENSG00000143337.
PharmGKBiPA142670715.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJUB. Eukaryota.
ENOG4111IZJ. LUCA.
GeneTreeiENSGT00390000012166.
HOVERGENiHBG083152.
InParanoidiQ5JTV8.
PhylomeDBiQ5JTV8.
TreeFamiTF329438.

Miscellaneous databases

ChiTaRSiTOR1AIP1. human.
GeneWikiiTOR1AIP1.
GenomeRNAii26092.
PMAP-CutDBQ5JTV8.
PROiQ5JTV8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143337.
CleanExiHS_TOR1AIP1.
ExpressionAtlasiQ5JTV8. baseline and differential.
GenevisibleiQ5JTV8. HS.

Family and domain databases

InterProiIPR008662. Lamina-ass_polypeptide_CLAP1C.
[Graphical view]
PfamiPF05609. LAP1C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTOIP1_HUMAN
AccessioniPrimary (citable) accession number: Q5JTV8
Secondary accession number(s): A8K630
, B0QZ57, Q5JTV6, Q8IZ65, Q9H8Y6, Q9HAJ1, Q9NV52, Q9Y3X5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 21, 2006
Last modified: November 30, 2016
This is version 109 of the entry and version 2 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.