TOR1AIP1 Gene
protein-coding GIFtS: 48
GCID: GC01P179851
|
|
torsin A interacting protein 1
| |
Aliases
for TOR1AIP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Torsin A Interacting Protein 11 2 | | LAP12 | | LAP1B1 2 3 | | Lamina Associated Polypeptide 1B2 | | Lamin-Associated Protein 1B2 3 | | Lamina-Associated Polypeptide 1B2 | | FLJ131421 | | Torsin-1A-Interacting Protein 12 |
Export aliases for TOR1AIP1 gene to outside databasesPrevious GC identifers: GC01P176583 GC01P178118 GC01P151084 |
Summaries
for TOR1AIP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TOR1AIP1:
This gene encodes a type 2 integral membrane protein that binds A- and B-type laminins. The encoded protein localizesto the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclearlamina during cell division. Alternate splicing results in multiple transcript variants. (provided by RefSeq, Jun2012)
UniProtKB/Swiss-Prot: TOIP1_HUMAN, Q5JTV8Function: Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina (Bysimilarity)
Gene Wiki entry for TOR1AIP1
|
Genomic Views
for TOR1AIP1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004487.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TOR1AIP1 gene promoter:
RFX1 MAZR Pax-5 ATF-2 RORalpha2 GATA-2 ARP-1 FOXO1a Pax-4a FOXO1
Other transcription factors
Search SABiosciences Chromatin IP Primers for TOR1AIP1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOR1AIP1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q24.2 Ensembl cytogenetic band: 1q25.2 HGNC cytogenetic band: 1q24.2TOR1AIP1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P179851: view genomic region
(about GC identifiers)
Start:
|
179,851,177 bp from pter |
End:
|
179,889,211 bp from pter |
Size:
|
38,035 bases |
Orientation:
|
plus strand |
|
Proteins
for TOR1AIP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TOIP1_HUMAN, Q5JTV8 (See
protein sequence)Recommended Name: Torsin-1A-interacting protein 1 Size: 583 amino acids; 66248 Da
Subunit: Interacts with ATP1B4 (By similarity). Interacts with TOR1A
Subcellular location: Nucleus inner membrane; Single-pass membrane protein (By similarity)
Sequence caution: Sequence=AAH23247.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAB13855.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14461.1;Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAF84184.1; Type=Erroneous initiation;Note=Translation N-terminally extended;
Secondary accessions: A8K630 B0QZ57 Q5JTV6 Q8IZ65 Q9H8Y6 Q9HAJ1 Q9NV52 Q9Y3X5Alternative splicing: 2 isoforms: Q5JTV8-1 Q5JTV8-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for TOR1AIP1: NX_Q5JTV8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q5JTV8
TOR1AIP1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001254507.1 NP_056417.2
ENSEMBL proteins: ENSP00000435365 ENSP00000271583 ENSP00000393292 ENSP00000434316 ENSP00000432717 ENSP00000433759 ENSP00000393613
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
TOR1AIP1 for ontologies About GeneDecksing
TOR1AIP1 Antibody Products:
Assay Products for TOR1AIP1: |
Protein
Domains /
Families
for TOR1AIP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TOR1AIP1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q5JTV8ProtoNet protein and cluster: Q5JTV8 UniProtKB/Swiss-Prot: TOIP1_HUMAN, Q5JTV8Similarity: Belongs to the TOR1AIP family |
Function
for TOR1AIP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TOIP1_HUMAN, Q5JTV8Function: Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina (Bysimilarity)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1AIP1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
TOR1AIP1 for ontologies About GeneDecksing
Animal Models:
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Tor1aip1):
TOR1AIP1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for TOR1AIP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TOR1AIP1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 11)
5/11 Interacting proteins for TOR1AIP1 (Q5JTV83 ENSP000002715834) via UniProtKB, MINT, STRING, and/or I2D (see all 11)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0034504 | protein localization to nucleus |
IEA | -- | | GO:0071763 | nuclear membrane organization |
IEA | -- |
TOR1AIP1 for ontologies About GeneDecksing
|
Drugs & Compounds
for TOR1AIP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for TOR1AIP1
Search CenterWatch for drugs/clinical trials and news about TOR1AIP1 / TOIP1
|
Transcripts
for TOR1AIP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TOR1AIP1 gene (3 alternative transcripts): NM_001267578.1 NM_015602.3 NM_032678.1 Unigene Cluster for TOR1AIP1: Torsin A interacting protein 1 Hs.496459 [show with all ESTs]Unigene Representative Sequence: NM_00126757811 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000528443(uc001gnp.1) ENST00000271583(uc001gnq.3) ENST00000435319
ENST00000531630 ENST00000527391 ENST00000529091 ENST00000527867 ENST00000474875
ENST00000531726 ENST00000524653 ENST00000447964
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1AIP1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1AIP1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: TOR1AIP1 (NM_015602) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TOR1AIP1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1AIP1 |
Additional cDNA sequence: AK001780.1 AK021613.1 AK023204.1 AK291495.1 AK310012.1 AL050126.1 BC023247.1 BC069736.1 19 DOTS entries: DT.414835 DT.102828647 DT.206217 DT.100823642 DT.91791112 DT.121385514 DT.100747219 DT.121385532 DT.91753968 DT.91753972 DT.92039054 DT.95089861 DT.100807005 DT.121385500 DT.95089862 DT.95089865 DT.97787950 DT.100801939 DT.91924106 24/153 AceView cDNA sequences (see all 153): NM_015602 AL597468 CR595831 AL548450 AA885049 BX472406 BF901875 BM852229 BM852209 BQ188330 BQ435161 AU279959 BP873596 AL050126 BM848939 AL697726 AL597483 BQ720485 AA620740 CR591258 BX369105 BM849599 BM851429 BX474778
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for TOR1AIP1 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
|---|
|
| SP1: | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | |
ECgene alternative splicing isoforms for TOR1AIP1
|
Expression
for TOR1AIP1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TOR1AIP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTATTGCCC
About this image
See TOR1AIP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TOR1AIP1
SOURCE GeneReport for Unigene cluster: Hs.496459
SABiosciences Custom PCR Arrays for TOR1AIP1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOR1AIP1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP1 |
Orthologs
for TOR1AIP1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for TOR1AIP1 gene from 4/13 species (see all 13) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Tor1aip15 |
torsin A interacting protein 1 |
-- |
|
1 (67.69 cM) 156006234 |
chicken
(Gallus gallus) |
Aves |
TOR1AIP16 |
Uncharacterized protein |
66(a) |
1 ↔ 1 |
8(6369586-6370125) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.2402 |
Transcribed sequence with weak similarity to protein more |
72.65(n) |
|
BX720486.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
si:dkeyp-82a1.66zgc:1129626 |
zgc:112962 |
23(a)18(a) |
many ↔ manymany ↔ many |
8(21584836-21590389) 8(21590491-21609772) |
ENSEMBL Gene Tree for TOR1AIP1 (if available)
TreeFam Gene Tree for TOR1AIP1 (if available) |
Paralogs
for TOR1AIP1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TOR1AIP1 gene
- TOR1AIP22
1 SIMAP similar gene for TOR1AIP1 using alignment to 7 protein entries: TOIP1_HUMAN (see all proteins):TOR1AIP2
TOR1AIP1 for paralogs About GeneDecksing
|
Genomic Variants
for TOR1AIP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TOR1AIP1 (179851177 - 179889211 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TOR1AIP1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TOR1AIP1 |
|
Disorders
/ Diseases
for TOR1AIP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
 TOR1AIP1 for disorders About MalaCards
TOR1AIP1 for disorders About GeneDecksing
OMIM gene information: 614512
OMIM disorders: --
Human Genome Epidemiology (HuGE) Navigator: TOR1AIP1 (1 document)
Export disorders for TOR1AIP1 gene to outside databases
|
Publications
for TOR1AIP1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TOR1AIP1 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with TOR1AIP1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. (PubMed id 15767459)1, 2, 3 Goodchild R.E. and Dauer W.T. (2005)
- Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants. (PubMed id 12061773)1, 2, 3 Kondo Y....Yoneda Y. (2002)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Effect of (211)At alpha-particle irradiation on expression of selected radiation responsive genes in human lymphocytes. (PubMed id 19382019)1, 9 Turtoi A. and Schneeweiss F.H. (2009)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Protein phosphatase 1a interacting proteins in the hum an brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (2012)
- Interactions between the ROP18 kinase and host cell pr oteins that aid in the parasitism of Toxoplasma gondii. (PubMed id 22365922)1 Cheng L....Du J. (2012)
|
External Searches for TOR1AIP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TOR1AIP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TOR1AIP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TOR1AIP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TOR1AIP1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TOR1AIP1 gene:
Search GeneIP for patents involving TOR1AIP1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TOR1AIP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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 | | | TOR1AIP1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP1 |
|  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1AIP1 |
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