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WFS1

GENERAL INFORMATION

Gene name

 WFS1

Gene description

 Wolfram syndrome 1 (wolframin)

Protein class

 Disease related genes
Plasma proteins
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA029128
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 WFS1 (HGNC Symbol)

Synonyms

 DFNA14, DFNA38, DFNA6, DIDMOAD, WFS

Description

 Wolfram syndrome 1 (wolframin) (HGNC Symbol)

Entrez gene summary

 This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

Chromosome

 4

Cytoband

 p16.1

Chromosome location (bp)

 6269849 - 6303265

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000109501 (version 83.38)

Entrez gene

 7466

UniProt

 O76024 (UniProt - Evidence at protein level)

neXtProt

 NX_O76024

Antibodypedia

 WFS1 antibodies

PROTEIN BROWSER
WFS1-001
WFS1-007
WFS1-008

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
WFS1-001
ENSP00000226760
ENST00000226760
O76024 [Direct mapping]
Wolframin
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000502 [proteasome complex]
GO:0001822 [kidney development]
GO:0003091 [renal water homeostasis]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0006983 [ER overload response]
GO:0007601 [visual perception]
GO:0007605 [sensory perception of sound]
GO:0022417 [protein maturation by protein folding]
GO:0030176 [integral component of endoplasmic reticulum membrane]
GO:0030425 [dendrite]
GO:0030433 [ER-associated ubiquitin-dependent protein catabolic process]
GO:0030968 [endoplasmic reticulum unfolded protein response]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031625 [ubiquitin protein ligase binding]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0033613 [activating transcription factor binding]
GO:0034976 [response to endoplasmic reticulum stress]
GO:0036498 [IRE1-mediated unfolded protein response]
GO:0042593 [glucose homeostasis]
GO:0043069 [negative regulation of programmed cell death]
GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0044267 [cellular protein metabolic process]
GO:0045762 [positive regulation of adenylate cyclase activity]
GO:0045927 [positive regulation of growth]
GO:0050821 [protein stabilization]
GO:0050877 [neurological system process]
GO:0051117 [ATPase binding]
GO:0051247 [positive regulation of protein metabolic process]
GO:0051928 [positive regulation of calcium ion transport]
GO:0055074 [calcium ion homeostasis]
GO:1902236 [negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway]
GO:1903892 [negative regulation of ATF6-mediated unfolded protein response]
GO:2000675 [negative regulation of type B pancreatic cell apoptotic process]
Show all
 890 aa
100.3 kDa 		No 8
WFS1-007
ENSP00000424103
ENST00000506362
H0Y9G5 [Direct mapping]
Wolframin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005783 [endoplasmic reticulum]
GO:0016021 [integral component of membrane]
GO:0055074 [calcium ion homeostasis]
Show all
 252 aa
28.7 kDa 		No 2
WFS1-008
ENSP00000423337
ENST00000503569
O76024 [Direct mapping]
Wolframin
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001822 [kidney development]
GO:0003091 [renal water homeostasis]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0006983 [ER overload response]
GO:0007601 [visual perception]
GO:0007605 [sensory perception of sound]
GO:0022417 [protein maturation by protein folding]
GO:0030176 [integral component of endoplasmic reticulum membrane]
GO:0030425 [dendrite]
GO:0030433 [ER-associated ubiquitin-dependent protein catabolic process]
GO:0030968 [endoplasmic reticulum unfolded protein response]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031625 [ubiquitin protein ligase binding]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0034976 [response to endoplasmic reticulum stress]
GO:0036498 [IRE1-mediated unfolded protein response]
GO:0042593 [glucose homeostasis]
GO:0043069 [negative regulation of programmed cell death]
GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0044267 [cellular protein metabolic process]
GO:0045927 [positive regulation of growth]
GO:0050821 [protein stabilization]
GO:0050877 [neurological system process]
GO:0051117 [ATPase binding]
GO:0051247 [positive regulation of protein metabolic process]
GO:0051928 [positive regulation of calcium ion transport]
GO:0055074 [calcium ion homeostasis]
GO:1903892 [negative regulation of ATF6-mediated unfolded protein response]
GO:2000675 [negative regulation of type B pancreatic cell apoptotic process]
Show all
 890 aa
100.3 kDa 		No 8

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.