TOR1AIP1 - torsin 1A interacting protein 1 Gene

Homo sapiens

Also known as LAP1; LAP1B; LAP1C; LGMD2Y

Gene ID: 26092 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in positive regulation of ATP-dependent activity	IDA IDA: Inferred from direct assay	23569223	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14904	TOR1AIP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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