Seroatlas · Human Serome Atlas

TOR1AIP1

Torsin-1A-interacting protein 1

Also known as: FLJ13142, LAP1, LAP1B, LAP1C, TOIP1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5JTV8
Gene: TOR1AIP1
Ensembl: ENSG00000143337
Chromosome: 1
Canonical length: 583 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nuclear membrane

OverviewNCBI Gene

This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]

Canonical amino-acid sequenceUniProt

583 residues, UniProt reviewed canonical sequence.

>Q5JTV8|TOR1AIP1
     1  MAGDGRRAEA VREGWGVYVT PRAPIREGRG RLAPQNGGSS DAPAYRTPPS RQGRREVRFS
    61  DEPPEVYGDF EPLVAKERSP VGKRTRLEEF RSDSAKEEVR ESAYYLRSRQ RRQPRPQETE
   121  EMKTRRTTRL QQQHSEQPPL QPSPVMTRRG LRDSHSSEED EASSQTDLSQ TISKKTVRSI
   181  QEAPVSEDLV IRLRRPPLRY PRYEATSVQQ KVNFSEEGET EEDDQDSSHS SVTTVKARSR
   241  DSDESGDKTT RSSSQYIESF WQSSQSQNFT AHDKQPSVLS SGYQKTPQEW APQTARIRTR
   301  MQNDSILKSE LGNQSPSTSS RQVTGQPQNA SFVKRNRWWL LPLIAALASG SFWFFSTPEV
   361  ETTAVQEFQN QMNQLKNKYQ GQDEKLWKRS QTFLEKHLNS SHPRSQPAIL LLTAARDAEE
   421  ALRCLSEQIA DAYSSFRSVR AIRIDGTDKA TQDSDTVKLE VDQELSNGFK NGQNAAVVHR
   481  FESFPAGSTL IFYKYCDHEN AAFKDVALVL TVLLEEETLG TSLGLKEVEE KVRDFLKVKF
   541  TNSNTPNSYN HMDPDKLNGL WSRISHLVLP VQPENALKRG ICL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TOR1AIP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.54
Highest tissue expression: 80 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 80 nTPM
tongue: 70 nTPM
skeletal muscle: 51 nTPM
ovary: 48 nTPM
blood vessel: 46 nTPM
thyroid gland: 44 nTPM

Single-cell type

early spermatids: 387 nCPM
neutrophil progenitors: 289 nCPM
late spermatids: 289 nCPM
neutrophils: 262 nCPM
ocular epithelial cells: 110 nCPM
monocyte progenitors: 104 nCPM

Immune cell

eosinophil: 206 nTPM
basophil: 179 nTPM
neutrophil: 134 nTPM
non-classical monocyte: 129 nTPM
total PBMC: 116 nTPM
intermediate monocyte: 95 nTPM

Brain region

choroid plexus: 54 nTPM
medulla oblongata: 43 nTPM
white matter: 42 nTPM
midbrain: 42 nTPM
basal ganglia: 41 nTPM
cerebellum: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TOR1AIP1.

Disease | AllUniProt

Conditions TOR1AIP1 is implicated in, by any mechanism.

Myopathy, autosomal recessive, with rigid spine and distal joint contractures (MRRSDC) MIM:617072

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 545 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive limb-girdle muscular dystrophy type 2Y
TOR1AIP1-related disorder
Centronuclear myopathy
Autosomal recessive TOR1AIP1-related disorders

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.91
gnomAD pLI: 0
gnomAD missense Z: -0.88
DepMap mean gene effect: -0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TOR1AIP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TOR1AIP1 as an antibody target. Whether an autoantibody or antibody against TOR1AIP1 could matter depends on whether native TOR1AIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TOR1AIP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TOR1AIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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