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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] See more...
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
- GC01P179851
- 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 Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures and Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2W. Gene Ontology (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 Summary 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.
Additional gene information for TOR1AIP1 Gene
- HGNC(29456)
- Entrez Gene(26092)
- Ensembl(ENSG00000143337)
- OMIM(614512)
- UniProtKB(Q5JTV8)
- Open Targets Platform(ENSG00000143337)
- Monarch Initiative
- Search for TOR1AIP1 at DataMed
- Search for TOR1AIP1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOR1AIP1 Gene
Genomics for TOR1AIP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TOR1AIP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TOR1AIP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOR1AIP1
- Top Transcription factor binding sites by QIAGEN in the TOR1AIP1 gene promoter:
-
- ARP-1
- ATF-2
- FOXO1
- FOXO1a
- GATA-2
- MAZR
- Pax-4a
- Pax-5
- RFX1
- RORalpha2
Genomic Locations for TOR1AIP1 Gene
Genomic Locations for TOR1AIP1 Gene
- chr1:179,882,042-179,925,000
- (GRCh38/hg38)
- Size:
- 42,959 bases
- Orientation:
- Plus strand
- chr1:179,851,177-179,894,135
- (GRCh37/hg19)
- 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 HGNC
- 1q25.2 by Entrez Gene
- 1q25.2 by Ensembl
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB13855.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14461.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAF84184.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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
- LifeSpan BioSciences TOR1AIP1 / LAP1 Antibody
- G Biosciences Immunotag™ TOR1AIP1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for TOR1AIP1
- Novus Biologicals Antibodies for TOR1AIP1
-
Abcam antibodies for TOR1AIP1
- Invitrogen Antibodies for TOR1AIP1 (AFLGC-TOR1AIP1)
-
Boster Bio Antibodies for TOR1AIP1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for TOR1AIP1
- Origene Custom Protein Services for TOR1AIP1
- antibodies-online: Show 8 available TOR1AIP1 Proteins ranked by validation data
- Compare Top TOR1AIP1 Proteins
-
Quality Products:
-
Signalway Proteins for TOR1AIP1
-
Abcam proteins for TOR1AIP1
No data available for DME Specific Peptides for TOR1AIP1 Gene
Domains & Families for TOR1AIP1 Gene
Gene Families for TOR1AIP1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for TOR1AIP1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TOR1AIP1 Gene
- GenScript: Design optimal peptide antigens:
-
- Torsin A interacting protein 1 (B1AMI8_HUMAN)
- Torsin-1A-interacting protein 1 (TOIP1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q5JTV8- Family:
-
- Belongs to the TOR1AIP family.
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.
Phenotypes From GWAS Catalog for TOR1AIP1 Gene
| 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 2 alleles
- GenomeRNAi human phenotypes for TOR1AIP1:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability
- Moderately decreased NFAT1-GFP nuclear translocation
- Decreased vesicular stomatitis virus (VSV) infection
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP), many micronuclei (grape), decreased viability (cell death)
Animal Models for TOR1AIP1 Gene
- MGI Knock Outs for TOR1AIP1:
-
- Tor1aip1 Tor1aip1<tm1b(EUCOMM)Hmgu>
Animal Model Products
-
Taconic Biosciences Mouse Models for TOR1AIP1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TOR1AIP1 - Select products 50% OFF >
- * TOR1AIP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TOR1AIP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOR1AIP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOR1AIP1
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)
- hsa-miR-1247-3p (MIRT761580)
- hsa-miR-1281 (MIRT762156)
- hsa-miR-150-5p (MIRT762877)
- hsa-miR-1976 (MIRT763606)
- hsa-miR-3653-5p (MIRT766400)
- hsa-miR-4279 (MIRT768354)
- hsa-miR-4532 (MIRT770092)
- hsa-miR-4722-3p (MIRT771519)
- hsa-miR-498 (MIRT772869)
- hsa-miR-5571-5p (MIRT774681)
- hsa-miR-562 (MIRT774909)
- hsa-miR-5697 (MIRT775129)
- hsa-miR-6727-3p (MIRT777921)
- hsa-miR-6747-3p (MIRT778308)
- hsa-miR-6778-3p (MIRT778837)
- hsa-miR-6814-5p (MIRT779808)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOR1AIP1
- Browse OriGene Inhibitory RNA Products For TOR1AIP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR1AIP1
Clone Products
- Applied Biological Materials (abm): Clones for TOR1AIP1 - Select products 50% OFF >
- * TOR1AIP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208336
- MG222177
- MG222178
- MR208336
- MR208336L3
- MR208336L4
- MR222177
- MR222177L3
- MR222177L4
- MR222178
- MR222178L3
- MR222178L4
- RC221686
- RC221686L3
- RC221686L4
- RC234496
- RG221686
- RG234496
- RR201031
- RR201031L3
- RR201031L4
- MR208336L3V
- MR208336L4V
- MR222177L3V
- MR222177L4V
- MR222178L3V
- MR222178L4V
- RC221686L3V
- RC221686L4V
- RR201031L3V
- RR201031L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TOR1AIP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOR1AIP1
Cell Line Products
-
Horizon Cell Lines for TOR1AIP1
No data available for Enzyme Numbers (IUBMB) , 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 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Nuclear membrane (4)
| 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
Interacting Proteins for TOR1AIP1 Gene
Selected Interacting proteins:
Q5JTV8-TOIP1_HUMAN
ENSP00000435365
for TOR1AIP1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TOR1AIP1
| 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 | -- |
| GO:0090435 | protein localization to nuclear envelope | IEA | -- |
No data available for Pathways by source for TOR1AIP1 Gene
Transcripts for TOR1AIP1 Gene
mRNA/cDNA for TOR1AIP1 Gene
- 3 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000271583 3044 nts (view in UCSC)
- ENST00000435319 3397 nts (view in UCSC)
- ENST00000447964 888 nts (view in UCSC)
- ENST00000474875 830 nts (view in UCSC)
- ENST00000524653 544 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TOR1AIP1 - Select products 50% OFF >
- * TOR1AIP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TOR1AIP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOR1AIP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOR1AIP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOR1AIP1
- Browse OriGene Inhibitory RNA Products For TOR1AIP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR1AIP1
Clone Products
- Applied Biological Materials (abm): Clones for TOR1AIP1 - Select products 50% OFF >
- * TOR1AIP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208336
- MG222177
- MG222178
- MR208336
- MR208336L3
- MR208336L4
- MR222177
- MR222177L3
- MR222177L4
- MR222178
- MR222178L3
- MR222178L4
- RC221686
- RC221686L3
- RC221686L4
- RC234496
- RG221686
- RG234496
- RR201031
- RR201031L3
- RR201031L4
- MR208336L3V
- MR208336L4V
- MR222177L3V
- MR222177L4V
- MR222178L3V
- MR222178L4V
- RC221686L3V
- RC221686L4V
- RR201031L3V
- RR201031L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TOR1AIP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOR1AIP1
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||
| SP4: | - |
Relevant External Links for TOR1AIP1 Gene
- GeneLoc Exon Structure for
- TOR1AIP1
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, MaxQB, and MOPED for TOR1AIP1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOR1AIP1
SOURCE GeneReport for Unigene cluster for TOR1AIP1 Gene:
Hs.496459mRNA Expression by UniProt/SwissProt for TOR1AIP1 Gene:
Q5JTV8-TOIP1_HUMAN
Tissue specificity:
Expressed in muscle, liver and kidney.
Evidence on tissue expression from TISSUES for TOR1AIP1 Gene
- Liver(4.5)
- Nervous system(4.4)
- Blood(4.3)
- Muscle(2.6)
- Skin(2.3)
- Heart(2.1)
Primer Products
-
OriGene qPCR primer pairs for TOR1AIP1
-
OriGene qPCR primer pairs and template standards for TOR1AIP1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TOR1AIP1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tor1aip1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Tor1aip1 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TOR1AIP1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TOR1AIP1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TOR1AIP1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TOR1AIP1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TOR1AIP1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.240 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | si:dkeyp-82a1.6 31 |
|
ManyToMany | |
| zgc:112962 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6390 31 |
|
OneToMany |
- Species where no ortholog for TOR1AIP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
Evolution for TOR1AIP1 Gene
- ENSEMBL:
- Gene Tree for TOR1AIP1 (if available)
- TreeFam:
- Gene Tree for TOR1AIP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TOR1AIP1: view image
Paralogs for TOR1AIP1 Gene
Variants for TOR1AIP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOR1AIP1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641540 | Uncertain Significance: Muscular dystrophy, limb-girdle, type 2y | 179,917,965(+) | A/G | MISSENSE_VARIANT | |
| 642712 | Uncertain Significance: Muscular dystrophy, limb-girdle, type 2y | 179,917,806(+) | G/A | MISSENSE_VARIANT | |
| 643510 | Uncertain Significance: Muscular dystrophy, limb-girdle, type 2y | 179,918,055(+) | T/A | MISSENSE_VARIANT | |
| 643973 | Likely Pathogenic: Muscular dystrophy, limb-girdle, type 2y | 179,908,671(+) | AAAGTAAG/A | SPLICE_DONOR_VARIANT | |
| 644094 | Uncertain Significance: Muscular dystrophy, limb-girdle, type 2y | 179,882,969(+) | C/T | MISSENSE_VARIANT |
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)
Additional Variant Information for TOR1AIP1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR1AIP1 Gene
Disorders for TOR1AIP1 Gene
(10) MalaCards diseases for TOR1AIP1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, autosomal recessive, with rigid spine and distal joint contractures |
|
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| autosomal recessive limb-girdle muscular dystrophy type 2w |
|
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| muscular dystrophy |
|
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| autosomal recessive limb-girdle muscular dystrophy type 2x |
|
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| dysferlinopathy |
|
|
Search TOR1AIP1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TOIP1_HUMAN- Myopathy, autosomal recessive, with rigid spine and distal joint contractures (MRRSDC) [MIM:617072]: An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life. {ECO:0000269 PubMed:24856141}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TOR1AIP1
- Human Genome Epidemiology Navigator
- (HuGE)
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No data available for 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 RE … Dauer WT (The Journal of cell biology 2005) 2 3 4
- 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 (Biochemical and biophysical research communications 2002) 2 3 4
- Arresting a Torsin ATPase reshapes the endoplasmic reticulum. (PMID: 24275647) Rose AE … Schlieker C (The Journal of biological chemistry 2014) 3 4
- Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. (PMID: 24856141) Kayman-Kurekci G … Dincer P (Neuromuscular disorders : NMD 2014) 3 4
- Regulation of Torsin ATPases by LAP1 and LULL1. (PMID: 23569223) Zhao C … Schlieker C (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4
ExternalLinks
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