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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Wolfram syndrome 1 (wolframin)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000109501 WFS1 9606 + 4:6269849-6303265 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000226760 WFS1-001 6269850-6303265 protein_coding
  ENST00000503569 WFS1-008 6269849-6302883 protein_coding
  ENST00000506362 WFS1-007 6289075-6300917 protein_coding
  ENST00000506588 WFS1-005 6269850-6287277 retained_intron
  ENST00000507765 WFS1-004 6288487-6303265 retained_intron
  ENST00000513395 WFS1-006 6294771-6300807 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000226760ENST00000503569ENST00000506362ENST00000507765
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000226760 31.753±0.00 14.361±0.00 N/A 11.285±9.15 12.031±11.24 16.490±0.00 11.298±9.50 12.931±0.00 4.892±0.16 10.393±9.36 6.326±0.00 37.179±34.30 39.116±12.02 27.922±4.59
ENST00000503569 19.442±0.00 2.672±0.00 0.931±0.00 6.510±5.16 8.691±7.35 3.684±2.83 6.504±5.91 0.934±0.00 1.989±1.07 10.725±0.00 2.871±0.00 14.651±17.02 7.314±1.41 8.607±2.74
ENST00000506362 N/A N/A N/A N/A N/A N/A N/A 0.771±0.00 N/A N/A N/A N/A N/A N/A
ENST00000507765 N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.620±0.00 N/A 0.720±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0003E5 CIL_0003E5_0002 CGP 4:6026199-6303265

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001822 IMP kidney development
GO:0003091 IMP renal water homeostasis
GO:0005215 ISS transporter activity
GO:0005516 IEA calmodulin binding
GO:0005783 ISS endoplasmic reticulum
GO:0005789 TAS endoplasmic reticulum membrane
GO:0006983 IC ER overload response
GO:0006987 TAS activation of signaling protein activity involved in unfolded protein response
GO:0007601 IMP visual perception
GO:0007605 IMP sensory perception of sound
GO:0022417 IC protein maturation by protein folding
GO:0030176 IDA integral component of endoplasmic reticulum membrane
GO:0030425 ISS dendrite
GO:0030433 ISS ER-associated ubiquitin-dependent protein catabolic process
GO:0030968 ISS endoplasmic reticulum unfolded protein response
GO:0031398 ISS positive regulation of protein ubiquitination
GO:0031625 ISS ubiquitin protein ligase binding
GO:0032469 IDA endoplasmic reticulum calcium ion homeostasis
GO:0033613 ISS activating transcription factor binding
GO:0034976 IDA response to endoplasmic reticulum stress
GO:0042048 IEA olfactory behavior
GO:0042593 IMP glucose homeostasis
GO:0043069 IMP negative regulation of programmed cell death
GO:0043433 ISS negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043524 IMP negative regulation of neuron apoptotic process
GO:0044267 TAS cellular protein metabolic process
GO:0045862 ISS positive regulation of proteolysis
GO:0045927 ISS positive regulation of growth
GO:0048306 IEA calcium-dependent protein binding
GO:0050821 ISS protein stabilization
GO:0050877 IMP neurological system process
GO:0051117 IPI ATPase binding
GO:0051247 IDA positive regulation of protein metabolic process
GO:0051928 IDA positive regulation of calcium ion transport
GO:0055074 IDA calcium ion homeostasis
GO:0070845 ISS polyubiquitinated misfolded protein transport
GO:1902236 ISS negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
GO:2000675 IMP negative regulation of type B pancreatic cell apoptotic process

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000062341 wfs1a Wolfram syndrome 1a (wolframin) protein_coding Danio_rerio
ENSDARG00000074617 wfs1b Wolfram syndrome 1b (wolframin) protein_coding Danio_rerio
ENSMUSG00000039474 Wfs1 Wolfram syndrome 1 homolog (human) protein_coding Mus_musculus

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