TOR1AIP1 - torsin 1A interacting protein 1 Gene

Also Known as LAP1; LAP1B; LAP1C; LGMD2Y

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26092

About TOR1AIP1

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:179,882,285-179,920,076 (from NCBI)

This gene has 12 transcripts (splice variants), 262 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 27.1), ovary (RPKM 27.0) and 25 other tissues.

Summary

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]

TOR1AIP1 Products (2)

mRNA Protein Name
NM_001267578.2 NP_001254507.1 torsin-1A-interacting protein 1 isoform 1
NM_015602.4 NP_056417.2 torsin-1A-interacting protein 1 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ATPase activator activity IDA
IDA: Inferred from direct assay
23569223 GOA
enables ATPase binding IPI
IPI: Inferred from physical interaction
23569223 GOA
enables cytoskeletal protein binding IPI
IPI: Inferred from physical interaction
16361107 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21044950 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of ATP-dependent activity IDA
IDA: Inferred from direct assay
23569223 GOA
Cellular Component GO Annotation Evidence References Source
located in nuclear envelope IDA
IDA: Inferred from direct assay
25461922 GOA
located in nucleus IDA
IDA: Inferred from direct assay
24275647 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TOR1AIP1 Protein Structure

LAP1C

LAP1C: Lamina-associated polypeptide 1C (LAP1C) (122 - 583)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 583 a.a.
Protein Preferred Names Protein Names

torsin-1A-interacting protein 1

  • lamin-associated protein 1B

TOR1AIP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TOR1AIP1 Q5JTV8 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
Intra
TOR1AIP1 Q5JTV8 TERF2IP Homo sapiens Q9NYB0
BiFC
21044950
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures

  • Muscular Dystrophy, Limb-Girdle, Type 2y

  • Lgmd2y

  • MRRSDC

  • Muscular Dystrophy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures

  • Tor1aip1-Related Limb-Girdle Muscular Dystrophy

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

  • Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

  • Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

  • Lgmd Type 2y

  • Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

  • Tor1aip1-Related Lgmd

  • Limb-Girdle Muscular Dystrophy 2y
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

  • Lgmd2b

  • Muscular Dystrophy, Limb-Girdle, Type 2b

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

  • Beta-Sarcoglycanopathy

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

  • Muscular Dystrophy, Limb-Girdle, Type 3

  • Lgmd3

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

  • LGMDR2

  • Muscular Dystrophy, Limb-Girdle, Type 2s

  • Limb-Girdle Muscular Dystrophy Type 2b

  • Lgmd2e

  • Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2e

  • Lgmd2s

  • Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

  • Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

  • Lgmd2y

  • Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

  • Muscular Dystrophy, Limb-Girdle, Type 2y

  • Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

  • Dysferlin-Related Lgmd R2

  • Lgmd Due To Dysferlin Deficiency

  • Lgmd Type 2b

  • Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

  • Limb-Girdle Muscular Dystrophy 2b

  • Limb-Girdle Muscular Dystrophy, Type 2b

  • Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

  • Dystrophy, Muscular, Limb-Girdle, Type 2b

  • Limb-Girdle Muscular Dystrophy, Type 2e
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w

  • Lgmd2w

  • Muscular Dystrophy, Limb-Girdle, Type 2w
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

  • Lgmd2x

  • Muscular Dystrophy, Limb-Girdle, Type 2x
Dystonia

  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia
Myopathy, Myofibrillar, 7

  • Myofibrillar Myopathy 7

  • MFM7

  • Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome

  • Myopathy, Myofibrillar, Type 7
Emery-Dreifuss Muscular Dystrophy

  • Edmd

  • Emery-Dreifuss Syndrome

  • Muscular Dystrophy, Emery-Dreifuss

  • Humeroperoneal Neuromuscular Disease

  • Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

  • Scapuloperoneal Syndrome, X-Linked

  • Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

  • Muscular Dystrophy, Emery-Dreifuss Type

  • Muscular Dystrophy Emery-Dreifuss

  • Dystrophy, Muscular, Emery-Dreifuss

  • Emd - [Emery-Dreifuss Muscular Dystrophy]
Myopathy

  • Muscular Diseases

  • Myopathies
Autosomal Recessive Limb-Girdle Muscular Dystrophy

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Congenital Myasthenic Syndrome

  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14904 TOR1AIP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus TOR1AIP1 VGNC VGNC:66455
Rattus norvegicus TOR1AIP1 RGD RGD:628851
Macaca mulatta TOR1AIP1 VGNC VGNC:79810
Canis familiaris TOR1AIP1 VGNC VGNC:58338
Mus musculus TOR1AIP1 MGD MGI:3582693
Bos taurus TOR1AIP1 VGNC VGNC:36224
Others TOR1AIP1 NCBI