ENSG00000143337


Homo sapiens

Features
Gene ID: ENSG00000143337
  
Biological name :TOR1AIP1
  
Synonyms : Q5JTV8 / TOR1AIP1 / torsin 1A interacting protein 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q25.2
Gene start: 179882042
Gene end: 179925000
  
Corresponding Affymetrix probe sets: 1560724_at (Human Genome U133 Plus 2.0 Array)   212408_at (Human Genome U133 Plus 2.0 Array)   212409_s_at (Human Genome U133 Plus 2.0 Array)   216100_s_at (Human Genome U133 Plus 2.0 Array)   240310_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000435365
Ensembl peptide - ENSP00000434316
Ensembl peptide - ENSP00000476687
Ensembl peptide - ENSP00000271583
Ensembl peptide - ENSP00000393292
Ensembl peptide - ENSP00000393613
Ensembl peptide - ENSP00000432717
Ensembl peptide - ENSP00000433759
NCBI entrez gene - 26092     See in Manteia.
OMIM - 614512
RefSeq - XM_011509404
RefSeq - NM_001267578
RefSeq - NM_015602
RefSeq - XM_011509403
RefSeq Peptide - NP_056417
RefSeq Peptide - NP_001254507
swissprot - Q5JTV8
swissprot - A0A0A0MSK5
swissprot - H0Y4R4
swissprot - H0YD16
swissprot - H0YDU3
swissprot - H0YDJ8
swissprot - J3KN66
Ensembl - ENSG00000143337
  
Related genetic diseases (OMIM): 617072 - ?Muscular dystrophy, limb-girdle, type 2Y, 617072
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:dkeyp-82a1.6ENSDARG00000094336Danio rerio
 zgc:112962ENSDARG00000069102Danio rerio
 TOR1AIP1ENSGALG00000029238Gallus gallus
 Q921T2ENSMUSG00000026466Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8NFQ8 / Q9H496 / TOR1AIP2 / torsin 1A interacting protein 2ENSG0000016990529


Protein motifs (from Interpro)
Interpro ID Name
 IPR008662  Lamina-associated polypeptide 1C


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0032781 positive regulation of ATPase activity IDA
 biological_processGO:0034504 protein localization to nucleus ISS
 biological_processGO:0071763 nuclear membrane organization IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005637 nuclear inner membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031965 nuclear membrane IDA
 molecular_functionGO:0001671 ATPase activator activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005521 lamin binding IEA
 molecular_functionGO:0008092 cytoskeletal protein binding IPI
 molecular_functionGO:0051117 ATPase binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003306 Spinal rigidity 
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 HP:0003677 Slow progression 
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 HP:0006466 Contractures of the ankles 
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 HP:0100297 Increased endomysial connective tissue 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
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