TOR1AIP1 Gene

Name	torsin A interacting protein 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTOR1AIP1 encodes lamina‐associated polypeptide 1 (LAP1), an integral protein of the inner nuclear membrane that plays a pivotal role in nuclear envelope organization. Structural studies have revealed that LAP1 contains an atypical AAA+ fold, and its conserved arginine residue acts analogously to the arginine finger found in canonical AAA+ ATPases, thereby activating the ER‐resident enzyme TorsinA. These findings indicate LAP1’s essential role in recruiting and stimulating TorsinA ATPase activity at the nuclear envelope."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n \nTOR1AIP1 mutations have been implicated in a range of neuromuscular disorders. In affected individuals, loss of LAP1B (and in some cases LAP1C) leads to severe muscular dystrophy, cardiomyopathy, and even early lethality, which are accompanied by nuclear envelope abnormalities such as nuclear fragmentation, chromatin blebbing, and disorganized nuclear morphology. These observations underscore LAP1’s fundamental role in maintaining nuclear envelope integrity and striated muscle function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n \nBeyond its structural functions, LAP1 interacts with several key regulatory proteins. Its nucleoplasmic domain binds to A- and B-type lamins, ensuring proper nuclear retention; it also directly interacts with protein phosphatase 1 (PP1), which dephosphorylates LAP1 and may influence cellular signaling pathways relevant to disorders such as DYT1 dystonia. Furthermore, LAP1 contributes to cell cycle progression by regulating centrosome positioning, mitotic spindle assembly, and nuclear envelope reassembly during mitosis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": "\n \nAdditional insights suggest that LAP1 may also be involved in protein degradation processes, possibly through transcriptional regulation mechanisms in muscle tissues. Recent studies have expanded the clinical spectrum associated with TOR1AIP1 mutations, linking them not only to muscle and neurodegenerative conditions but also to multisystem developmental anomalies and progeroid-like phenotypes. These findings collectively highlight the critical, multifaceted functions of TOR1AIP1 in organogenesis, cellular homeostasis, and maintenance of nuclear integrity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Brian A Sosa, F Esra Demircioglu, James Z Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "How lamina-associated polypeptide 1 (LAP1) activates Torsin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.03239"}], "href": "https://doi.org/10.7554/eLife.03239"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25149450"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25149450"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Gulsum Kayman-Kurekci, Beril Talim, Petek Korkusuz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromuscul Disord (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nmd.2014.04.007"}], "href": "https://doi.org/10.1016/j.nmd.2014.04.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24856141"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24856141"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Boris Fichtman, Fadia Zagairy, Nitzan Biran, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-019-08493-7"}], "href": "https://doi.org/10.1038/s41467-019-08493-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30723199"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30723199"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yukihiro Kondo, Junpei Kondoh, Daisuke Hayashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0006-291X(02)00563-6"}], "href": "https://doi.org/10.1016/S0006-291X(02"}, {"type": "t", "text": "00563-6) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12061773"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12061773"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Mariana Santos, Sandra Rebelo, Paula J M Van Kleeff, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0076788"}], "href": "https://doi.org/10.1371/journal.pone.0076788"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24116158"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24116158"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mariana Santos, Patrícia Costa, Filipa Martins, et al. "}, {"type": "b", "children": [{"type": "t", "text": "LAP1 is a crucial protein for the maintenance of the nuclear envelope structure and cell cycle progression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biochem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11010-014-2241-x"}], "href": "https://doi.org/10.1007/s11010-014-2241-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25323962"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25323962"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ivana Lessel, Mei-Jan Chen, Sabine Lüttgen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-019-02105-6"}], "href": "https://doi.org/10.1007/s00439-019-02105-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32055997"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32055997"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Ayse Ece Cali-Daylan, Pervin Dincer "}, {"type": "b", "children": [{"type": "t", "text": "Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromuscul Disord (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nmd.2016.10.011"}], "href": "https://doi.org/10.1016/j.nmd.2016.10.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28110863"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28110863"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Laurane Mackels, Xincheng Liu, Gisèle Bonne, et al. "}, {"type": "b", "children": [{"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "TOR1AIP1"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": "-Associated Nuclear Envelopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms24086911"}], "href": "https://doi.org/10.3390/ijms24086911"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37108075"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37108075"}]}]}]}
Synonyms	LGMD2Y, LAP1B
Proteins	TOIP1_HUMAN
NCBI Gene ID	26092
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

TOR1AIP1 has 6,720 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 125 datasets.

Click the + buttons to view associations for TOR1AIP1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

TOR1AIP1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of TOR1AIP1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of TOR1AIP1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of TOR1AIP1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of TOR1AIP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of TOR1AIP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of TOR1AIP1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of TOR1AIP1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of TOR1AIP1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of TOR1AIP1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of TOR1AIP1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of TOR1AIP1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with TOR1AIP1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with TOR1AIP1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of TOR1AIP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of TOR1AIP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of TOR1AIP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with TOR1AIP1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing TOR1AIP1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of TOR1AIP1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing TOR1AIP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing TOR1AIP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing TOR1AIP1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing TOR1AIP1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with TOR1AIP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with TOR1AIP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of TOR1AIP1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with TOR1AIP1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with TOR1AIP1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with TOR1AIP1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by TOR1AIP1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving TOR1AIP1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with TOR1AIP1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with TOR1AIP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with TOR1AIP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with TOR1AIP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with TOR1AIP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at TOR1AIP1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of TOR1AIP1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of TOR1AIP1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing TOR1AIP1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.