Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tor1aip1 | Rat | autosomal recessive limb-girdle muscular dystrophy type 2Y | | ISO | TOR1AIP1 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tor1aip1 | Rat | autosomal recessive limb-girdle muscular dystrophy type 2Y | | ISO | TOR1AIP1 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | cDNA cloning and characterization of lamina-associated polypeptide 1C (LAP1C), an integral protein of the inner nuclear membrane. | Martin L, etal., J Biol Chem 1995 Apr 14;270(15):8822-8. |
3. | Evolution of Na,K-ATPase beta m-subunit into a coregulator of transcription in placental mammals. | Pestov NB, etal., Proc Natl Acad Sci U S A. 2007 Jul 3;104(27):11215-20. Epub 2007 Jun 25. |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate. | Santos M, etal., PLoS One. 2013 Oct 7;8(10):e76788. doi: 10.1371/journal.pone.0076788. eCollection 2013. |
PMID:12477932 | PMID:15489334 | PMID:15767459 | PMID:16128803 | PMID:16361107 | PMID:20457914 | PMID:23569223 | PMID:24275647 |
Tor1aip1 (Rattus norvegicus - Norway rat) |
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TOR1AIP1 (Homo sapiens - human) |
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Tor1aip1 (Mus musculus - house mouse) |
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Tor1aip1 (Chinchilla lanigera - long-tailed chinchilla) |
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TOR1AIP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TOR1AIP1 (Canis lupus familiaris - dog) |
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Tor1aip1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TOR1AIP1 (Sus scrofa - pig) |
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TOR1AIP1 (Chlorocebus sabaeus - green monkey) |
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Tor1aip1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Tor1aip1
237 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH129301 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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nervous system
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renal system
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reproductive system
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respiratory system
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9 | 11 | 49 | 113 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
RefSeq Transcripts | NM_145092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006250027 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006250028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039090334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC086987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ234456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U19614 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U20286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000005280 ⟹ ENSRNOP00000005280 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000005296 ⟹ ENSRNOP00000005296 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000098741 ⟹ ENSRNOP00000085745 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000107683 ⟹ ENSRNOP00000087328 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_145092 ⟹ NP_659560 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006250027 ⟹ XP_006250089 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006250028 ⟹ XP_006250090 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039090334 ⟹ XP_038946262 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Protein RefSeqs | NP_659560 | (Get FASTA) | NCBI Sequence Viewer |
XP_006250089 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006250090 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038946262 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA69914 | (Get FASTA) | NCBI Sequence Viewer |
AAA69915 | (Get FASTA) | NCBI Sequence Viewer | |
AAH86987 | (Get FASTA) | NCBI Sequence Viewer | |
EDM09497 | (Get FASTA) | NCBI Sequence Viewer | |
EDM09498 | (Get FASTA) | NCBI Sequence Viewer | |
EDM09499 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000005280.4 | ||
ENSRNOP00000005296.5 | |||
ENSRNOP00000085745.1 | |||
ENSRNOP00000087328.1 | |||
GenBank Protein | Q5PQX1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_659560 ⟸ NM_145092 |
- UniProtKB: | Q62741 (UniProtKB/Swiss-Prot), Q62754 (UniProtKB/Swiss-Prot), Q5PQX1 (UniProtKB/Swiss-Prot), A6ICZ9 (UniProtKB/TrEMBL), A0A8I6AGC6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006250090 ⟸ XM_006250028 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_006250089 ⟸ XM_006250027 |
- Peptide Label: | isoform X2 |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000005296 ⟸ ENSRNOT00000005296 |
Ensembl Acc Id: | ENSRNOP00000005280 ⟸ ENSRNOT00000005280 |
RefSeq Acc Id: | XP_038946262 ⟸ XM_039090334 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I6A2B4 (UniProtKB/TrEMBL), A0A8I6AGC6 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSRNOP00000087328 ⟸ ENSRNOT00000107683 |
Ensembl Acc Id: | ENSRNOP00000085745 ⟸ ENSRNOT00000098741 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5PQX1-F1-model_v2 | AlphaFold | Q5PQX1 | 1-583 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13698912 | ||||||||
Promoter ID: | EPDNEW_R9437 | ||||||||
Type: | initiation region | ||||||||
Name: | Tor1aip1_1 | ||||||||
Description: | torsin 1A interacting protein 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:628851 | AgrOrtholog |
BioCyc Gene | G2FUF-17826 | BioCyc |
Ensembl Genes | ENSRNOG00000003946 | Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000005280.7 | UniProtKB/Swiss-Prot |
ENSRNOT00000005296.5 | UniProtKB/TrEMBL | |
ENSRNOT00000098741.1 | UniProtKB/TrEMBL | |
ENSRNOT00000107683.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.12190 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IMAGE_CLONE | IMAGE:7129718 | IMAGE-MGC_LOAD |
InterPro | Lamina-ass_polypeptide_CLAP1C | UniProtKB/Swiss-Prot |
LAP1C-like_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TOIP1/2 | UniProtKB/TrEMBL | |
TOIP1/2_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TOIP1/2_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:246314 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGC_CLONE | MGC:93149 | IMAGE-MGC_LOAD |
NCBI Gene | 246314 | ENTREZGENE |
PANTHER | PTHR18843 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TORSIN-1A-INTERACTING PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | LAP1_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
LAP1C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Tor1aip1 | PhenoGen |
RatGTEx | ENSRNOG00000003946 | RatGTEx |
UniProt | A0A8I6A2B4 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I6AGC6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8L2Q1H0_RAT | UniProtKB/TrEMBL | |
A6ICZ8_RAT | UniProtKB/TrEMBL | |
A6ICZ9 | ENTREZGENE, UniProtKB/TrEMBL | |
A6ID00_RAT | UniProtKB/TrEMBL | |
Q5PQX1 | ENTREZGENE | |
Q62741 | ENTREZGENE | |
Q62754 | ENTREZGENE | |
TOIP1_RAT | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q62741 | UniProtKB/Swiss-Prot |
Q62754 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-03 | Tor1aip1 | torsin 1A interacting protein 1 | Tor1aip1 | torsin A interacting protein 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-30 | Tor1aip1 | torsin A interacting protein 1 | Lap1b | lamina-associated polypeptide 1B | Symbol and Name updated | 1299863 | APPROVED |
2005-01-20 | Lap1b | lamina-associated polypeptide 1B | Lap1c | lamina-associated polypeptide 1C | Symbol and Name updated | 1299863 | APPROVED |
2003-02-27 | Lap1c | lamina-associated polypeptide 1C | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_cellular_localization | localized to the inner nuclear membrane | 633106 |
gene_protein | 506-amino acid protein | 633106 |