Aliases for TOR1AIP1 Gene
Aliases for TOR1AIP1 Gene
External Ids for TOR1AIP1 Gene
- HGNC: 29456
- Entrez Gene: 26092
- Ensembl: ENSG00000143337
- OMIM: 614512
- UniProtKB: Q5JTV8
Previous GeneCards Identifiers for TOR1AIP1 Gene
- GC01P176583
- GC01P178118
- GC01P151084
Summaries for TOR1AIP1 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 division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
GeneCards Summary for TOR1AIP1 Gene
TOR1AIP1 (Torsin 1A Interacting Protein 1) is a Protein Coding gene. Diseases associated with TOR1AIP1 include Muscular Dystrophy, Limb-Girdle, Type 2E. GO annotations related to this gene include cytoskeletal protein binding and ATPase activator activity. An important paralog of this gene is TOR1AIP2.
UniProtKB/Swiss-Prot for TOR1AIP1 Gene
-
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.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOR1AIP1 Gene
Genomics for TOR1AIP1 Gene
Regulatory Elements for TOR1AIP1 Gene
Enhancers for TOR1AIP1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH01F180116 | 1.3 | Ensembl ENCODE | 10 | +235.5 | 235538 | 2.1 | ATF1 CREB3L1 MLX ARID4B ZNF48 GATA2 FOS SP5 MXD4 MIER2 | QSOX1 TOR1AIP1 TOR1AIP2 ENSG00000261831 ENSG00000261817 RPS24P5 |
| GH01F180026 | 1 | FANTOM5 ENCODE | 12.5 | +145.5 | 145456 | 2.5 | SCRT1 JUN CEBPB MAFG JUNB EP300 JUND MAFF ZNF316 MAFK | TOR1AIP1 TOR1AIP2 ENSG00000261831 CEP350 RPS24P5 ENSG00000261817 |
| GH01F179926 | 1 | Ensembl ENCODE | 10.4 | +44.7 | 44657 | 0.8 | JUN INSM2 FEZF1 RFX5 HIC1 ZNF366 POLR3A SCRT2 ZNF26 FOSL2 | TOR1AIP1 TOR1AIP2 ENSG00000261831 GC01P179922 |
| GH01F179930 | 0.9 | ENCODE | 10.7 | +49.0 | 49039 | 0.2 | TBP INSM2 FEZF1 BRCA1 RFX5 ZNF366 SCRT2 RCOR1 ZNF391 FOS | TOR1AIP1 TOR1AIP2 GC01P179922 ENSG00000261831 |
| GH01F179929 | 0.7 | ENCODE | 11.4 | +48.1 | 48081 | 1.1 | SCRT1 STAT1 RNF2 NR2F1 MAFF SCRT2 HMBOX1 NR2F6 WT1 TRIM28 | TOR1AIP1 TOR1AIP2 GC01P179922 ENSG00000261831 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around TOR1AIP1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for TOR1AIP1 Gene
- Chromosome:
- 1
- Start:
- 179,882,042 bp from pter
- End:
- 179,925,000 bp from pter
- Size:
- 42,959 bases
- Orientation:
- Plus strand
Genomic View for TOR1AIP1 Gene
Genes around TOR1AIP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q25.2 by Ensembl
- 1q25.2 by Entrez Gene
- 1q25.2 by HGNC
TOR1AIP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TOR1AIP1 Gene
Proteins for TOR1AIP1 Gene
-
Protein details for TOR1AIP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5JTV8-TOIP1_HUMAN
- Recommended name:
- Torsin-1A-interacting protein 1
- Protein Accession:
- Q5JTV8
- A8K630
- B0QZ57
- Q5JTV6
- Q8IZ65
- Q9H8Y6
- Q9HAJ1
- Q9NV52
- Q9Y3X5
Protein attributes for TOR1AIP1 Gene
- Size:
- 583 amino acids
- Molecular mass:
- 66248 Da
- Quaternary structure:
-
- Interacts with ATP1B4. Interacts with TOR1A (ATP-bound). Interacts with TOR1B, TOR2A and TOR3A. Interacts with VIM.
- SequenceCaution:
-
- Sequence=AAH23247.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13855.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14461.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF84184.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for TOR1AIP1 Gene
Post-translational modifications for TOR1AIP1 Gene
Other Protein References for TOR1AIP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for TOR1AIP1
-
Custom Antibody ServicesOriGene Antibodies for TOR1AIP1
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Abcam antibodies for TOR1AIP1
- Invitrogen Antibodies for TOR1AIP1
- antibodies-online Antibodies for TOR1AIP1: See all 17
- GeneTex Map1b antibody for TOR1AIP1
-
St John's Laboratory Antibodies for TOR1AIP1
Protein Products
-
OriGene Purified Proteins for TOR1AIP1
- Search Origene for MassSpec and Protein Over-expression Lysates for TOR1AIP1
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- Search GeneTex for Proteins for TOR1AIP1
-
Abcam proteins for TOR1AIP1
Assay Products
No data available for DME Specific Peptides for TOR1AIP1 Gene
Domains & Families for TOR1AIP1 Gene
Protein Domains for TOR1AIP1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TOR1AIP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q5JTV8- Family:
-
- Belongs to the TOR1AIP family.
No data available for Gene Families for TOR1AIP1 Gene
Function for TOR1AIP1 Gene
Molecular function for TOR1AIP1 Gene
- UniProtKB/Swiss-Prot 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001671 | ATPase activator activity | IDA | 23569223 |
| GO:0005515 | protein binding | IPI | 21044950 |
| GO:0005521 | lamin binding | IEA | -- |
| GO:0008092 | cytoskeletal protein binding | IPI | 16361107 |
| GO:0051117 | ATPase binding | IPI | 23569223 |
Phenotypes for TOR1AIP1 Gene
- MGI mutant phenotypes for TOR1AIP1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TOR1AIP1:
Animal Model Products
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Taconic Biosciences Mouse Models for TOR1AIP1
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ViGene Biosciences lentiviral particle packaged cDNA for TOR1AIP1 gene
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- Search ViGene Biosciences for TOR1AIP1
CRISPR Products
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miRNA for TOR1AIP1 Gene
- miRTarBase miRNAs that target TOR1AIP1
-
- hsa-mir-215-5p (MIRT024930)
- hsa-mir-192-5p (MIRT026145)
- hsa-mir-101-3p (MIRT027250)
- hsa-mir-3674 (MIRT533563)
- hsa-mir-23c (MIRT533564)
- hsa-mir-23b-3p (MIRT533565)
- hsa-mir-23a-3p (MIRT533566)
- hsa-mir-130a-5p (MIRT533567)
- hsa-mir-5196-5p (MIRT533568)
- hsa-mir-4747-5p (MIRT533569)
- hsa-mir-3908 (MIRT533570)
- hsa-mir-6818-3p (MIRT541501)
- hsa-mir-6720-5p (MIRT541502)
- hsa-mir-6512-3p (MIRT541503)
- hsa-mir-31-5p (MIRT541504)
- hsa-mir-661 (MIRT541505)
- hsa-mir-6766-3p (MIRT541506)
- hsa-mir-4782-3p (MIRT541507)
- hsa-mir-219a-5p (MIRT541508)
- hsa-mir-5186 (MIRT541509)
- hsa-mir-6860 (MIRT541510)
- hsa-mir-612 (MIRT541511)
- hsa-mir-3187-5p (MIRT541512)
- hsa-mir-5189-5p (MIRT541513)
- hsa-mir-1285-3p (MIRT541514)
- hsa-mir-766-3p (MIRT541515)
- hsa-mir-6849-3p (MIRT541516)
- hsa-mir-939-3p (MIRT541517)
- hsa-mir-5586-3p (MIRT541518)
- hsa-mir-508-5p (MIRT541519)
- hsa-mir-4446-5p (MIRT642180)
- hsa-mir-5006-3p (MIRT642181)
- hsa-mir-4755-5p (MIRT642182)
- hsa-mir-211-5p (MIRT642183)
- hsa-mir-204-5p (MIRT642184)
- hsa-mir-623 (MIRT642185)
- hsa-mir-7977 (MIRT642186)
- hsa-mir-3145-3p (MIRT642187)
- hsa-mir-627-3p (MIRT642188)
- hsa-mir-6780b-3p (MIRT642189)
- hsa-mir-4780 (MIRT642190)
- hsa-mir-6840-3p (MIRT698097)
- hsa-mir-5000-3p (MIRT698098)
- hsa-mir-4436a (MIRT698099)
- hsa-mir-1207-3p (MIRT698100)
- hsa-mir-6826-5p (MIRT698101)
- hsa-mir-3651 (MIRT698102)
- hsa-mir-7-2-3p (MIRT698103)
- hsa-mir-7-1-3p (MIRT698104)
- hsa-mir-5688 (MIRT698105)
- hsa-mir-495-3p (MIRT698106)
- hsa-mir-522-3p (MIRT698107)
- hsa-mir-224-3p (MIRT698108)
miRNA Products
- Search ViGene Biosciences for TOR1AIP1
Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
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Horizon Cell Lines for TOR1AIP1
-
ViGene Biosciences adenoviral particle packaged cDNA for TOR1AIP1 gene
-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOR1AIP1 Gene
Localization for TOR1AIP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TOR1AIP1 Gene
- Nucleus inner membrane; Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 2 |
| cytosol | 2 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 24275647 |
| GO:0005635 | nuclear envelope | IEA | -- |
| GO:0005637 | nuclear inner membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for TOR1AIP1 Gene
No Data Available
Interacting Proteins for TOR1AIP1 Gene
Selected Interacting proteins:
ENSP00000393292
Q5JTV8-TOIP1_HUMAN
for TOR1AIP1 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0032781 | positive regulation of ATPase activity | IDA | 23569223 |
| GO:0034504 | protein localization to nucleus | ISS | -- |
| GO:0071763 | nuclear membrane organization | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for TOR1AIP1 Gene
Transcripts for TOR1AIP1 Gene
mRNA/cDNA for TOR1AIP1 Gene
- (5) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (153) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TOR1AIP1 Gene
- Torsin A interacting protein 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TOR1AIP1
- GenScript: Design CRISPR guide RNA sequences for TOR1AIP1
miRNA Products
- Search ViGene Biosciences for TOR1AIP1
Clone Products
- Sino Biological Human cDNA Clone for TOR1AIP1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TOR1AIP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TOR1AIP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||
| SP4: | - |
Expression for TOR1AIP1 Gene
This gene is overexpressed in Lavage (14.2), Peripheral blood mononuclear cells (9.3), and Tlymphocyte (7.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TOR1AIP1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TOR1AIP1 Gene:
TOR1AIP1SOURCE GeneReport for Unigene cluster for TOR1AIP1 Gene:
Hs.496459Primer Products
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OriGene qPCR primer pairs for TOR1AIP1
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OriGene qPCR primer pairs and template standards for TOR1AIP1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TOR1AIP1 Gene
Orthologs for TOR1AIP1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TOR1AIP1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | TOR1AIP1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tor1aip1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Tor1aip1 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | TOR1AIP1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TOR1AIP1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TOR1AIP1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TOR1AIP1 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TOR1AIP1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.240 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:dkeyp-82a1.6 35 |
|
ManyToMany | |
| zgc:112962 35 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6390 35 |
|
OneToMany |
- Species where no ortholog for TOR1AIP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for TOR1AIP1 Gene
(1) SIMAP similar genes for TOR1AIP1 Gene using alignment to 6 proteins:
Variants for TOR1AIP1 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs775134055 | A breast cancer sample | 179,889,327(+) | ATCTT(A/G)TAATC | reference, missense | |
| rs879255612 | Pathogenic | 179,882,688(+) | GACGA(-/G)CCGCC | reference, frameshift-variant | |
| rs146164995 | Likely benign | 179,889,335(+) | ATCAG(A/G)TTACG | reference, synonymous-codon | |
| rs1281378 | Benign | 179,882,939(+) | TGTTA(C/T)GACCA | reference, missense | |
| rs17279712 | Benign | 179,908,645(+) | CCACA(A/C)ACTGC | reference, missense |
Residual Variation Intolerance Score:
23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.80;
47.49% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for TOR1AIP1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR1AIP1 Gene
Disorders for TOR1AIP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy, limb-girdle, type 2e |
|
|
Search TOR1AIP1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for TOR1AIP1
No data available for UniProtKB/Swiss-Prot and Genatlas for TOR1AIP1 Gene
Publications for TOR1AIP1 Gene
- The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. (PMID: 15767459) Goodchild R.E. … Dauer W.T. (J. Cell Biol. 2005) 2 3 4 64
- Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants. (PMID: 12061773) Kondo Y. … Yoneda Y. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 64
- Arresting a Torsin ATPase reshapes the endoplasmic reticulum. (PMID: 24275647) Rose A.E. … Schlieker C. (J. Biol. Chem. 2014) 3 4 64
- Regulation of Torsin ATPases by LAP1 and LULL1. (PMID: 23569223) Zhao C. … Schlieker C. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64
- Effect of (211)At alpha-particle irradiation on expression of selected radiation responsive genes in human lymphocytes. (PMID: 19382019) Turtoi A. … Schneeweiss F.H. (Int. J. Radiat. Biol. 2009) 3 22 64
Products for TOR1AIP1 Gene
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- VectorBuilder custom plasmid, inducible vectors for TOR1AIP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TOR1AIP1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for TOR1AIP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
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