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WFS1
HPA
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  • TISSUE
  • BRAIN
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Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

  • CANCER

  • BLOOD

  • CELL LINE

  • STRUCT & INT

  • WFS1
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

WFS1
Synonyms DFNA14, DFNA38, DFNA6, DIDMOAD, WFS
Gene descriptioni

Full gene name according to HGNC.

Wolframin ER transmembrane glycoprotein
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Plasma proteins
Potential drug targets
Transporters
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Extravillous trophoblasts - Unknown function (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Cell type enhanced (Alveolar cells type 1, Extravillous trophoblasts, Lymphatic endothelial cells)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Neuronal - Transcription (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Not available
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
GENE INFORMATIONi

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.

Chromosome 4
Cytoband p16.1
Chromosome location (bp) 6269849 - 6303265
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

12
Ensembl ENSG00000109501 (version 109)
Entrez gene 7466
HGNC HGNC:12762
UniProt O76024 (UniProt - Evidence at protein level)
neXtProt NX_O76024
GeneCards WFS1
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
WFS1-201
WFS1-202
WFS1-203
WFS1-207
WFS1-208
WFS1-209
WFS1-210
WFS1-211
WFS1-212
WFS1-213
WFS1-214
WFS1-215
»

Description:

Color scheme:
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Alphamissense variants:
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Autorotate:
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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
WFS1-201
O76024
Show all
A0A0S2Z4V6
Show all
Transporters
Predicted membrane proteins
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
890 aa
100.3 kDa
No 9
WFS1-202
O76024
Show all
A0A0S2Z4V6
Show all
Transporters
Predicted membrane proteins
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
890 aa
100.3 kDa
No 9
WFS1-203
H0Y9G5
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
807 aa
91.8 kDa
No 8
WFS1-207
A0A669KBF0
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
427 aa
47.1 kDa
No 0
WFS1-208
A0A669KAX3
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
902 aa
101.5 kDa
No 8
WFS1-209
A0A669KB26
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
148 aa
16.4 kDa
No 0
WFS1-210
A0A804HKM5
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
164 aa
17.1 kDa
No 0
WFS1-211
A0A669KAX3
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
902 aa
101.5 kDa
No 8
WFS1-212
A0A804HIL2
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
278 aa
30.4 kDa
No 0
WFS1-213
A0A804HIL0
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
157 aa
16.7 kDa
No 0
WFS1-214
O76024
Show all
A0A0S2Z4V6
Show all
Transporters
Predicted membrane proteins
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
890 aa
100.3 kDa
No 8
WFS1-215
A0A804HK77
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
234 aa
25.4 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Neuronal - Transcription

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
WFS1 has no defined protein interactions in Consensus.
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 316 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ABCG405000
AGA03105
AK308301
AKR1A103124
ANAPC138411610
ANP32B3101670
ANXA5051111
ANXA80150018
APP4431413310
AQP60264000
AQP8011000
ARFGAP3129420
ASCL4234204
ATP1B127810
ATP2A2244100
ATP6V1B16810019
ATP6V1B2177302214
BAG31758127015
BATF218300
BCL2L13243500
BECN116495653
BMF521600
BRME1319400
BSND0250019
BTRC324518500
C14orf3903000
C17orf49461008
C1D4119013
C1orf216169100
C2orf4943538
C7orf50258638
C8orf48017000
CAMK1G04000
CCAR2684030
CCDC9042111
CCNE246814
CCT252121263697
CD79A01444018
CDCA702000
CDKAL1031310
CHCHD36382838
CIAO2B5191005
CITED226600
CKMT1A311400
CKMT1B111100
CLEC11A060052
CLINT1782993
CLIP305400
CLPP21921105
CMSS1114220
CNPY30103124
COMT253410
COPS210145240
CRIPT12300
CSTA36609
CXorf38010001
CYB5A436130
CYFIP14112001
DCLRE1B18600
DDX39A292380
DENND2B13600
DISP102000
DMRTA102000
DNAJC403101
DNASE1L11111058
DNMT3A6143411
DPYSL417107
DPYSL5216305
DUSP16231200
DVL391201902
DXO014001
DYNLT1113629163
ECRG402000
EDRF116740
EIF3F1442461010
EIF5B04810
EPS8L205307
ERCC6L14343
ESM107100
ESR1325747300
ESRP1228200
EXOC59461229
EYA308300
FABP705000
FAM111B14100
FAM117B5221240
FAM163A017009
FAM209A0200000
FAM98C19103
FAM9A449400
FANCG53526016
FANK105101
FASTKD1090032
FBH1031000
FBLN5111300
FBXO436804
FBXO42551504
FEZ2212310
FOSL15189012
FTL4146099
G2E307000
G6PC102000
GALNT603303
GFAP81481700
GFOD1017005
GLI403000
GPANK1165102
GPR14108005
GPR89B01100
GPSM3238206
H2AP315400
H3-5017500
H3C12552282014
H3C102523014
H3C112523014
H3C122523014
H3C25528014
H3C395215014
H3C40521014
H3C6175239014
H3C73524014
H3C82523014
HHEX024300
HK306006
HNRNPDL11540290
IGFBP41103013
IL18RAP01000
IL4I102100
ING42112120
IQCF205009
IQUB156100
ISCA21131022
JMJD7014000
KCNMB202005
KCTD135221107
KDSR131319
KEAP1195462212
KIAA0408124100
KIF1A15740
KLF152302205
KLF37284600
KLHL2063212162
KRT1921653800
KRT22209000
KRT33B365300
KRTAP13-3058000
KRTAP19-7072000
KRTAP8-1076000
LCA5L014000
LCAT12200
LCE1B870900
LCE2A144100
LENG8135300
LGALS8361100
LHX6118400
LHX8228400
LNX215631800
LOXL43163050
LPIN1018200
MAF1656116
MAGEB18310301
MAP2K6471001
MECP28349590
METTL27141100
MIS18A426715
MLC1013100
MPND015000
MRFAP16341329
MRFAP1L1746705
MRPS178315765
MSL301510
MYL1105002
MYLK216601
NAALAD203100
NCLN1311170
NDN6123700
NDUFAF410418020
NGEF08103
NR1D2110500
NUDT404000
NUFIP2166326332
OIP53113936
OTUB113435306
P2RY6215200
PABPC303303
PAK5132502
PALMD02000
PALS17191733
PELO420801
PER142310017
PERP07000
PGLYRP3012003
PHF5A12427414
PIAS18386440
PLA2G12A02100
PLEKHG7018000
PLIN205312
PLPPR1013001
POLB541292
POLR3F191319257
PPTC7263014
PRKAA28782903
PRPS157912021
PRPS23101050
PRUNE2013000
PSMB14384634320
PSMC63647603313
PSMD515938016
PUM1251620
QARS1125329010
RAB11B5917514
RAI2313400
RBM14181154990
RBM171922243616
RHPN1115300
RMND5A131918223
RNF10617800
RNF168052800
RNF183030203
RNF208020100
RNH1451319
RPL34231110185
RPS15A14888462
RPS27A51542012
RPSA3212924079
RUSF12493022
RXYLT114100
S100P315707
SAMD706000
SARNP26942
SCAMP4016110
SDC21910034
SDCBP62412600
SELE03000
SEMA4C1176113
SENP39830159
SEPTIN68171360
SERINC303001
SH3KBP120347010
SHLD116300
SKIL218910
SLC13A203000
SLC16A601000
SLITRK301100
SMU14101780
SNAPC3110101
SPINK206000
SPPL2A02000
SPRED2238608
SPRY4231905
SRARP03001
STAM212321891
STOML2031410
STT3A681670
STUB12657186020
SUMF208014
SYCE3010003
SYNC19210
SYT307003
TBPL128402
TCEAL435310
TCEAL808000
TCF2519264
TCP10L228203
TDG2131600
TENT5B257203
TERF19712701
TEX1906000
THUMPD202000
TIMM17B118210
TIMM8A113500
TLR1004000
TMEM61011000
TNNI327801
TRIM2391422200
TRMT61B342806
TSC22D4103112118
TSSC40102300
TTC1371628
TUBB61426113
UBAC1325905
UBE2E314253502
UBE2J207406
UBE2K17613330
VDAC28205980
VPS37A218633
VSX2020000
WDR7710651812
WDR8383014038
WWP2185213911
XRCC62122226152
YIF1A566550
YY1194784176
ZCRB1335626
ZDHHC17273248018
ZFP64214310
ZKSCAN8014806
ZNF124045100
ZNF138017000
ZNF22501000
ZNF23907100
ZNF366122100
ZNF436119100
ZNF440126201
ZNF497042000
ZNF5240220023
ZNF57114101
ZNF572058000
ZNF670319311
ZNF696330311
ZNF69704000
ZNF774068000
ZNF79112103
ZSCAN26015100
ZSCAN9121202
ZXDC219300
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 2
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
RPN13210123653
SMURF1558200
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 2
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
CALM31058351620
CANX126723538124
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 20
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACKR2070044
ADORA2B010027
ANTXR1002024
C3orf522572043
C5AR1002039
CD3E3611018
CLEC4E5350043
DHCR24215832
FBXO213130154
GPR173010033
GPR1821110243
MGARP11420115
P2RY80000105
RAMP30700100
TMEM184A000048
TMEM231589014
TMEM72090023
TMEM92116081
TNFRSF9014012
TSPAN151420122
Show allShow less
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

WFS1 is not a metabolic protein

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