C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: torsin family 1, member A (torsin A)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000136827 TOR1A 9606 - 9:129812944-129824134 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000351698 TOR1A-001 129812944-129824134 protein_coding
  ENST00000473084 TOR1A-002 129821376-129824104 processed_transcript
  ENST00000473604 TOR1A-003 129818323-129823593 processed_transcript
  ENST00000474192 TOR1A-004 129813608-129818781 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000351698ENST00000473084ENST00000474192
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000351698 13.142±0.00 15.582±0.00 0.902±0.00 7.474±2.83 7.756±4.04 4.585±2.37 2.976±1.89 6.672±5.37 4.556±1.07 5.795±1.83 2.945±2.57 10.717±4.64 20.082±2.29 8.202±2.49
ENST00000473084 N/A N/A 0.302±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000474192 N/A 5.219±0.00 0.330±0.00 N/A N/A N/A N/A N/A N/A N/A 0.463±0.00 N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0002LZ CIL_0002LZ_0003 CGP 9:129803153-129824134
CIL_0005UA CIL_0005UA_0001 CGP 9:129812944-129835863

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000338 IMP protein deneddylation
GO:0005515 IPI protein binding
GO:0005524 IEA ATP binding
GO:0005634 IEA nucleus
GO:0005635 ISS nuclear envelope
GO:0005737 IEA cytoplasm
GO:0005783 IEA endoplasmic reticulum
GO:0005788 IDA endoplasmic reticulum lumen
GO:0005856 IEA cytoskeleton
GO:0006200 IDA ATP catabolic process
GO:0006979 IEA response to oxidative stress
GO:0006996 ISS organelle organization
GO:0006998 ISS nuclear envelope organization
GO:0007155 IMP cell adhesion
GO:0008021 IDA synaptic vesicle
GO:0008092 IPI cytoskeletal protein binding
GO:0016020 IDA membrane
GO:0016887 IDA ATPase activity
GO:0019894 IPI kinesin binding
GO:0030054 IEA cell junction
GO:0030141 ISS secretory granule
GO:0030426 ISS growth cone
GO:0030659 ISS cytoplasmic vesicle membrane
GO:0031175 IMP neuron projection development
GO:0031965 IDA nuclear membrane
GO:0034504 ISS protein localization to nucleus
GO:0042406 IDA extrinsic component of endoplasmic reticulum membrane
GO:0043005 IEA neuron projection
GO:0043231 IDA intracellular membrane-bounded organelle
GO:0044319 ISS wound healing, spreading of cells
GO:0045104 IMP intermediate filament cytoskeleton organization
GO:0048489 IMP synaptic vesicle transport
GO:0051082 TAS unfolded protein binding
GO:0051085 IEA chaperone mediated protein folding requiring cofactor
GO:0051260 IDA protein homooligomerization
GO:0051584 IDA regulation of dopamine uptake involved in synaptic transmission
GO:0051787 IEA misfolded protein binding
GO:0061077 IDA chaperone-mediated protein folding
GO:0070062 IDA extracellular vesicular exosome
GO:0071712 ISS ER-associated misfolded protein catabolic process
GO:0071763 ISS nuclear membrane organization
GO:0072321 IDA chaperone-mediated protein transport
GO:1900244 IMP positive regulation of synaptic vesicle endocytosis
GO:2000008 IMP regulation of protein localization to cell surface

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000026895 tor1l3 torsin family 1 like 3 protein_coding Danio_rerio
ENSDARG00000055856 tor1l1 torsin family 1 like 1 protein_coding Danio_rerio
ENSDARG00000077950 tor1 torsin family 1 protein_coding Danio_rerio
ENSDARG00000090741 AL954146.4 Uncharacterized protein protein_coding Danio_rerio
ENSMUSG00000026849 Tor1a torsin family 1, member A (torsin A) protein_coding Mus_musculus

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