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TOR1AIP1 (torsin 1A interacting protein 1)

Identity

Alias_namestorsin A interacting protein 1
Alias_symbol (synonym)LAP1B
FLJ13142
Other aliasLAP1
LGMD2Y
HGNC (Hugo) TOR1AIP1
LocusID (NCBI) 26092
Atlas_Id 75061
Location 1q25.2  [Link to chromosome band 1q25]
Location_base_pair Starts at 179882042 and ends at 179920077 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PRUNE2 (9q21.2) / TOR1AIP1 (1q25.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TOR1AIP1   29456
Cards
Entrez_Gene (NCBI)TOR1AIP1  26092  torsin 1A interacting protein 1
AliasesLAP1; LAP1B; LGMD2Y
GeneCards (Weizmann)TOR1AIP1
Ensembl hg19 (Hinxton)ENSG00000143337 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143337 [Gene_View]  chr1:179882042-179920077 [Contig_View]  TOR1AIP1 [Vega]
ICGC DataPortalENSG00000143337
TCGA cBioPortalTOR1AIP1
AceView (NCBI)TOR1AIP1
Genatlas (Paris)TOR1AIP1
WikiGenes26092
SOURCE (Princeton)TOR1AIP1
Genetics Home Reference (NIH)TOR1AIP1
Genomic and cartography
GoldenPath hg38 (UCSC)TOR1AIP1  -     chr1:179882042-179920077 +  1q25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TOR1AIP1  -     1q25.2   [Description]    (hg19-Feb_2009)
EnsemblTOR1AIP1 - 1q25.2 [CytoView hg19]  TOR1AIP1 - 1q25.2 [CytoView hg38]
Mapping of homologs : NCBITOR1AIP1 [Mapview hg19]  TOR1AIP1 [Mapview hg38]
OMIM614512   617072   
Gene and transcription
Genbank (Entrez)AK001780 AK021613 AK023204 AK291495 AK310012
RefSeq transcript (Entrez)NM_001267578 NM_015602 NM_032678
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TOR1AIP1
Cluster EST : UnigeneHs.496459 [ NCBI ]
CGAP (NCI)Hs.496459
Alternative Splicing GalleryENSG00000143337
Gene ExpressionTOR1AIP1 [ NCBI-GEO ]   TOR1AIP1 [ EBI - ARRAY_EXPRESS ]   TOR1AIP1 [ SEEK ]   TOR1AIP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TOR1AIP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26092
GTEX Portal (Tissue expression)TOR1AIP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JTV8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JTV8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JTV8
Splice isoforms : SwissVarQ5JTV8
PhosPhoSitePlusQ5JTV8
Domains : Interpro (EBI)Lamina-ass_polypeptide_CLAP1C   
Domain families : Pfam (Sanger)LAP1C (PF05609)   
Domain families : Pfam (NCBI)pfam05609   
Conserved Domain (NCBI)TOR1AIP1
DMDM Disease mutations26092
Blocks (Seattle)TOR1AIP1
PDB (SRS)4TVS   
PDB (PDBSum)4TVS   
PDB (IMB)4TVS   
PDB (RSDB)4TVS   
Structural Biology KnowledgeBase4TVS   
SCOP (Structural Classification of Proteins)4TVS   
CATH (Classification of proteins structures)4TVS   
SuperfamilyQ5JTV8
Human Protein AtlasENSG00000143337
Peptide AtlasQ5JTV8
HPRD13958
IPIIPI00936738   IPI00012280   IPI00952955   IPI00792065   IPI00644766   IPI00977372   IPI00974532   IPI00979278   IPI00976738   
Protein Interaction databases
DIP (DOE-UCLA)Q5JTV8
IntAct (EBI)Q5JTV8
FunCoupENSG00000143337
BioGRIDTOR1AIP1
STRING (EMBL)TOR1AIP1
ZODIACTOR1AIP1
Ontologies - Pathways
QuickGOQ5JTV8
Ontology : AmiGOATPase activator activity  protein binding  lamin binding  nucleus  nuclear inner membrane  cytoskeletal protein binding  integral component of membrane  nuclear membrane  positive regulation of ATPase activity  protein localization to nucleus  ATPase binding  nuclear membrane organization  
Ontology : EGO-EBIATPase activator activity  protein binding  lamin binding  nucleus  nuclear inner membrane  cytoskeletal protein binding  integral component of membrane  nuclear membrane  positive regulation of ATPase activity  protein localization to nucleus  ATPase binding  nuclear membrane organization  
NDEx NetworkTOR1AIP1
Atlas of Cancer Signalling NetworkTOR1AIP1
Wikipedia pathwaysTOR1AIP1
Orthology - Evolution
OrthoDB26092
GeneTree (enSembl)ENSG00000143337
Phylogenetic Trees/Animal Genes : TreeFamTOR1AIP1
HOVERGENQ5JTV8
HOGENOMQ5JTV8
Homologs : HomoloGeneTOR1AIP1
Homology/Alignments : Family Browser (UCSC)TOR1AIP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOR1AIP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOR1AIP1
dbVarTOR1AIP1
ClinVarTOR1AIP1
1000_GenomesTOR1AIP1 
Exome Variant ServerTOR1AIP1
ExAC (Exome Aggregation Consortium)TOR1AIP1 (select the gene name)
Genetic variants : HAPMAP26092
Genomic Variants (DGV)TOR1AIP1 [DGVbeta]
DECIPHERTOR1AIP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTOR1AIP1 
Mutations
ICGC Data PortalTOR1AIP1 
TCGA Data PortalTOR1AIP1 
Broad Tumor PortalTOR1AIP1
OASIS PortalTOR1AIP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTOR1AIP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTOR1AIP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TOR1AIP1
DgiDB (Drug Gene Interaction Database)TOR1AIP1
DoCM (Curated mutations)TOR1AIP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TOR1AIP1 (select a term)
intoGenTOR1AIP1
Cancer3DTOR1AIP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614512    617072   
Orphanet23198   
MedgenTOR1AIP1
Genetic Testing Registry TOR1AIP1
NextProtQ5JTV8 [Medical]
TSGene26092
GENETestsTOR1AIP1
Huge Navigator TOR1AIP1 [HugePedia]
snp3D : Map Gene to Disease26092
BioCentury BCIQTOR1AIP1
ClinGenTOR1AIP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26092
Chemical/Pharm GKB GenePA142670715
Clinical trialTOR1AIP1
Miscellaneous
canSAR (ICR)TOR1AIP1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTOR1AIP1
EVEXTOR1AIP1
GoPubMedTOR1AIP1
iHOPTOR1AIP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:59:15 CEST 2017

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