Gene Gene information from NCBI Gene database.
Entrez ID 26092
Gene name Torsin 1A interacting protein 1
Gene symbol TOR1AIP1
Synonyms (NCBI Gene)
LAP1LAP1BLAP1CLGMD2Y
Chromosome 1
Chromosome location 1q25.2
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 d
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs11581962 C>A,T Likely-pathogenic Synonymous variant, stop gained, coding sequence variant
rs201518227 C>T Likely-pathogenic Missense variant, coding sequence variant
rs750028739 GTAAGAATAG>- Likely-pathogenic Coding sequence variant, splice donor variant, intron variant
rs778326858 G>T Pathogenic Coding sequence variant, stop gained
rs879255612 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
537
miRTarBase ID miRNA Experiments Reference
MIRT024930 hsa-miR-215-5p Microarray 19074876
MIRT026145 hsa-miR-192-5p Microarray 19074876
MIRT027250 hsa-miR-101-3p Sequencing 20371350
MIRT698108 hsa-miR-224-3p HITS-CLIP 23313552
MIRT698107 hsa-miR-522-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0001671 Function ATPase activator activity IDA 23569223
GO:0001671 Function ATPase activator activity IEA
GO:0005515 Function Protein binding IPI 21044950, 22321011, 23569223, 24116158, 32814053
GO:0005521 Function Lamin binding IEA
GO:0005634 Component Nucleus IDA 24275647, 25461922
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614512 29456 ENSG00000143337
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JTV8
Protein name Torsin-1A-interacting protein 1 (Lamin-associated protein 1B) (LAP1B)
Protein function 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.
PDB 4TVS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05609 LAP1C 149 583 Lamina-associated polypeptide 1C (LAP1C) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in muscle, liver and kidney. {ECO:0000269|PubMed:24856141}.; TISSUE SPECIFICITY: [Isoform 1]: Major isoform present in liver, brain and heart (at protein level). Expressed at lower levels than isoform 4 in lung, kidney and sp
Sequence
Sequence length 583
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
416
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive limb-girdle muscular dystrophy type 2Y Pathogenic; Likely pathogenic rs2148468818, rs374232191, rs2148468809, rs2148468861, rs1193188647, rs900977276, rs771280075, rs112561258, rs907592735, rs201518227, rs778326858, rs1180978840, rs1571735403, rs11581962, rs1648544786
View all (4 more)
RCV001881617
RCV001939436
RCV001877950
RCV002000140
RCV001870185
RCV001963866
RCV003002775
RCV003832288
RCV003882670
RCV000626055
RCV000817819
RCV000798451
RCV000797796
RCV000991359
RCV001069849
RCV001045706
RCV001222816
RCV001224043
RCV001232336
Centronuclear myopathy Pathogenic rs2526558374 RCV004587610
TOR1AIP1-related disorder Likely pathogenic rs1318942147 RCV003420871
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign; Likely benign rs2274955 RCV005897225
Cervical cancer Likely benign; Benign rs41267618, rs2274955 RCV005919199
RCV005897226
Cholangiocarcinoma Benign; Likely benign rs2274955 RCV005897234
Clear cell carcinoma of kidney Benign; Likely benign rs2274955 RCV005897228
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 25425325
Cardiomyopathy Dilated Associate 25425325
Cataract Associate 30723199, 32055997
Cataract Nuclear Progressive Associate 30723199
Cerebellar Diseases Associate 25425325, 30723199
Congenital Abnormalities Associate 32055997
Contracture Associate 32055997
COVID 19 Associate 35995775
Developmental Disabilities Associate 32055997
Dystonia Associate 25425325, 30723199