Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26092
Gene name Gene Name - the full gene name approved by the HGNC.
Torsin 1A interacting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TOR1AIP1
Synonyms (NCBI Gene) Gene synonyms aliases
LAP1, LAP1B, LAP1C, LGMD2Y
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.2
Summary Summary of gene provided in NCBI Entrez 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 d
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001671 Function ATPase activator activity IDA 23569223
GO:0005515 Function Protein binding IPI 21044950, 22321011, 23569223, 24116158, 32814053
GO:0005634 Component Nucleus IDA 24275647
GO:0005637 Component Nuclear inner membrane IEA
GO:0008092 Function Cytoskeletal protein binding IPI 16361107
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614512 29456 ENSG00000143337
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Glaucoma Glaucoma, Open-Angle rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
22428042
Limb-girdle muscular dystrophy TOR1AIP1-related limb-girdle muscular dystrophy rs2137534216, rs104894422, rs762777463, rs104894423, rs137854524, rs137854521, rs137854523, rs137854529, rs398123555, rs119463996, rs587777814, rs119463992, rs267606971, rs267606967, rs28941782
View all (762 more)
Muscular dystrophy Muscular Dystrophy rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913
View all (15 more)
Unknown
Disease term Disease name Evidence References Source
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
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