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TOR1AIP1 (torsin 1A interacting protein 1)

Identity

Alias (NCBI)LAP1
LAP1B
LAP1C
LGMD2Y
HGNC (Hugo) TOR1AIP1
HGNC Alias symbLAP1B
FLJ13142
HGNC Alias namelamina associated polypeptide 1B
HGNC Previous nametorsin A interacting protein 1
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    torsin 1A interacting protein 1
AliasesLAP1; LAP1B; LAP1C; LGMD2Y
GeneCards (Weizmann)TOR1AIP1
Ensembl hg19 (Hinxton)ENSG00000143337 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143337 [Gene_View]  ENSG00000143337 [Sequence]  chr1:179882042-179920077 [Contig_View]  TOR1AIP1 [Vega]
ICGC DataPortalENSG00000143337
TCGA cBioPortalTOR1AIP1
AceView (NCBI)TOR1AIP1
Genatlas (Paris)TOR1AIP1
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)
GoldenPathTOR1AIP1 - 1q25.2 [CytoView hg19]  TOR1AIP1 - 1q25.2 [CytoView hg38]
ImmunoBaseENSG00000143337
Genome Data Viewer NCBITOR1AIP1 [Mapview hg19]  
OMIM614512   617072   
Gene and transcription
Genbank (Entrez)AK001780 AK021613 AK023204 AK291495 AK310012
RefSeq transcript (Entrez)NM_001267578 NM_015602 NM_032678
Consensus coding sequences : CCDS (NCBI)TOR1AIP1
Gene ExpressionTOR1AIP1 [ NCBI-GEO ]   TOR1AIP1 [ EBI - ARRAY_EXPRESS ]   TOR1AIP1 [ SEEK ]   TOR1AIP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TOR1AIP1 [ Firebrowse - Broad ]
GenevisibleExpression of TOR1AIP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26092
GTEX Portal (Tissue expression)TOR1AIP1
Human Protein AtlasENSG00000143337-TOR1AIP1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ5JTV8
Domains : Interpro (EBI)Lamina-ass_polypeptide_CLAP1C    LAP1C-like_C_sf   
Domain families : Pfam (Sanger)LAP1C (PF05609)   
Domain families : Pfam (NCBI)pfam05609   
Conserved Domain (NCBI)TOR1AIP1
PDB (RSDB)4TVS   
PDB Europe4TVS   
PDB (PDBSum)4TVS   
PDB (IMB)4TVS   
Structural Biology KnowledgeBase4TVS   
SCOP (Structural Classification of Proteins)4TVS   
CATH (Classification of proteins structures)4TVS   
SuperfamilyQ5JTV8
AlphaFold pdb e-kbQ5JTV8   
Human Protein Atlas [tissue]ENSG00000143337-TOR1AIP1 [tissue]
HPRD13958
Protein Interaction databases
DIP (DOE-UCLA)Q5JTV8
IntAct (EBI)Q5JTV8
BioGRIDTOR1AIP1
STRING (EMBL)TOR1AIP1
ZODIACTOR1AIP1
Ontologies - Pathways
QuickGOQ5JTV8
Ontology : AmiGOATPase activator activity  protein binding  lamin binding  nucleus  nuclear inner membrane  cytoskeletal protein binding  membrane  integral component of membrane  nuclear membrane  nuclear membrane  positive regulation of ATPase activity  protein localization to nucleus  regulation of catalytic activity  ATPase binding  membrane organization  nuclear membrane organization  protein localization to nuclear envelope  
Ontology : EGO-EBIATPase activator activity  protein binding  lamin binding  nucleus  nuclear inner membrane  cytoskeletal protein binding  membrane  integral component of membrane  nuclear membrane  nuclear membrane  positive regulation of ATPase activity  protein localization to nucleus  regulation of catalytic activity  ATPase binding  membrane organization  nuclear membrane organization  protein localization to nuclear envelope  
NDEx NetworkTOR1AIP1
Atlas of Cancer Signalling NetworkTOR1AIP1
Wikipedia pathwaysTOR1AIP1
Orthology - Evolution
OrthoDB26092
GeneTree (enSembl)ENSG00000143337
Phylogenetic Trees/Animal Genes : TreeFamTOR1AIP1
Homologs : HomoloGeneTOR1AIP1
Homology/Alignments : Family Browser (UCSC)TOR1AIP1
Gene fusions - Rearrangements
Fusion : QuiverTOR1AIP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOR1AIP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOR1AIP1
dbVarTOR1AIP1
ClinVarTOR1AIP1
MonarchTOR1AIP1
1000_GenomesTOR1AIP1 
Exome Variant ServerTOR1AIP1
GNOMAD BrowserENSG00000143337
Varsome BrowserTOR1AIP1
ACMGTOR1AIP1 variants
VarityQ5JTV8
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]  
Somatic Mutations in Cancer : COSMIC3DTOR1AIP1
Mutations and Diseases : HGMDTOR1AIP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTOR1AIP1
DgiDB (Drug Gene Interaction Database)TOR1AIP1
DoCM (Curated mutations)TOR1AIP1
CIViC (Clinical Interpretations of Variants in Cancer)TOR1AIP1
Cancer3DTOR1AIP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614512    617072   
Orphanet23198   
DisGeNETTOR1AIP1
MedgenTOR1AIP1
Genetic Testing Registry TOR1AIP1
NextProtQ5JTV8 [Medical]
GENETestsTOR1AIP1
Target ValidationTOR1AIP1
Huge Navigator TOR1AIP1 [HugePedia]
ClinGenTOR1AIP1
Clinical trials, drugs, therapy
MyCancerGenomeTOR1AIP1
Protein Interactions : CTDTOR1AIP1
Pharm GKB GenePA142670715
PharosQ5JTV8
Clinical trialTOR1AIP1
Miscellaneous
canSAR (ICR)TOR1AIP1
HarmonizomeTOR1AIP1
DataMed IndexTOR1AIP1
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTOR1AIP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:26:34 CEST 2021

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