Tissue expression of WFS1 - Summary - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. Don't show this again.

WFS1

TISSUE

SUBCELL

CELL LINE

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN ANTIBODY/ANTIGEN


Dictionary

GENERAL INFORMATION ? »
Protein class Protein class the gene product belongs to according to selected gene lists. List of protein classes. Predicted localization Protein localization predicted from several bioinformatic algorithms. More info... Number of transcripts Number of protein-coding transcribed from this gene as defined by Ensembl.
Gene name	WFS1
Gene description	Wolfram syndrome 1 (wolframin)
Protein class	Disease related genes Plasma proteins Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	3
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:	Mixed
GTEx:	Expressed in all

Protein evidence

Evidence at protein level

Protein localization

The majority of normal cells showed moderate membranous and in some cases also cytoplasmic positivity. Pancreatic islets, renal tubules, trophoblasts, cells in ductus seminiferus and purkinje cells were strongly stained. Squamous epithelia, gastrointestinal tract, exocrine pancreas, urothelium and glial cells were weakly stained or negative.

ANTIBODY RELIABILITY ? »
Data reliability description Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based annotation, indicated by "Pending RNA-based expert annotation", when applicable. Data reliability Data reliability score (score description), divided into supportive (premium) or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.
Data reliability description	Pending RNA-based expert annotation.
Data reliability	Uncertain based on 1 antibody. HPA029128
	SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »

RNA expression (FPKM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Lateral ventricle

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

N/A

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

N/A

Prostate

Seminal vesicle

N/A

Female tissues

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression

RNA EXPRESSION OVERVIEW

? »

HPA dataset

RNA tissue category:

Mixed

Organ

Expression

GTEx dataset

RNA tissue category:

Expressed in all

Organ

Expression

GENE INFORMATION ? »
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
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 78.38)
Entrez gene	7466
UniProt	O76024 (UniProt - Evidence at protein level)
neXtProt	NX_O76024
Antibodypedia	WFS1 antibodies

PROTEIN BROWSER

? »

ENST00000226760		ENST00000503569		ENST00000506362

PROTEIN INFORMATION

? »

Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
WFS1-001	ENSP00000226760 ENST00000226760	O76024 Show all » « Hide O76024 [Direct mapping] Wolframin B4DJ99 [Target identity:30%; Query identity:100%] cDNA FLJ51211, highly similar to Wolframin {ECO:0000313\|EMBL:BAG58761.1}	Show » « Hide 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 Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001822 [kidney development] GO:0003091 [renal water homeostasis] GO:0005215 [transporter activity] GO:0005516 [calmodulin binding] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0006983 [ER overload response] GO:0006987 [activation of signaling protein activity involved in unfolded protein 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:0042048 [olfactory behavior] 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:0045862 [positive regulation of proteolysis] GO:0045927 [positive regulation of growth] GO:0048306 [calcium-dependent protein binding] 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:0070845 [polyubiquitinated misfolded protein transport] GO:1902236 [negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway] GO:2000675 [negative regulation of type B pancreatic cell apoptotic process]	890	100.3	No	8
WFS1-007	ENSP00000424103 ENST00000506362		Show » « Hide 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 (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		252	28.7	No	2
WFS1-008	ENSP00000423337 ENST00000503569	O76024 Show all » « Hide O76024 [Direct mapping] Wolframin B4DJ99 [Target identity:30%; Query identity:100%] cDNA FLJ51211, highly similar to Wolframin {ECO:0000313\|EMBL:BAG58761.1}	Show » « Hide 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 Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0001822 [kidney development] GO:0003091 [renal water homeostasis] GO:0005215 [transporter activity] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0006983 [ER overload response] GO:0006987 [activation of signaling protein activity involved in unfolded protein 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: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:0045862 [positive regulation of proteolysis] 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:0070845 [polyubiquitinated misfolded protein transport] GO:1902236 [negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway] GO:2000675 [negative regulation of type B pancreatic cell apoptotic process]	890	100.3	No	8

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

Protein class

Predicted localization

Number of transcripts

RNA tissue category

Protein evidence

Protein localization

Data reliability description

Data reliability

RNA expression (FPKM)

Protein expression (score)

HPA dataset

RNA tissue category HPA

GTEx dataset

RNA tissue category GTEx