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CFTR
HPA
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  • TISSUE
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Search result

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

  • CFTR
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.

CFTR
Synonyms ABC35, ABCC7, CF, CFTR/MRP, dJ760C5.1, MRP7, TNR-CFTR
Gene descriptioni

Full gene name according to HGNC.

CF transmembrane conductance regulator
Protein classi

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

Cancer-related genes
Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Plasma proteins
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.

Non-specific - Mixed 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.

Group enriched (Ductal cells, Late spermatids)
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.

Pancreas - Proteolysis (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.

Tissue enhanced (Gallbladder, Intestine, Pancreas)
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 7
Cytoband
Chromosome location (bp) 117287120 - 117715971
Number of transcriptsi

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

14
Ensembl ENSG00000001626 (version 109)
Entrez gene 1080
HGNC HGNC:1884
UniProt P13569 (UniProt - Evidence at protein level)
neXtProt NX_P13569
GeneCards CFTR
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.
«
CFTR-201
CFTR-202
CFTR-205
CFTR-206
CFTR-209
CFTR-216
CFTR-217
CFTR-218
CFTR-220
CFTR-223
CFTR-228
CFTR-229
CFTR-234
CFTR-237
»

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
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Population
Clinical
Alphamissense variants:
Off
Benign
Pathogenic
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)
CFTR-201
P13569
Show all
A0A024R730
Show all
Enzymes
Transporters
Predicted membrane proteins
Plasma proteins
Cancer-related genes
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
1480 aa
168.1 kDa
No >9
CFTR-202
E7EPB6
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
1438 aa
163.4 kDa
No >9
CFTR-205
C9J6L5
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
36 aa
4.2 kDa
No 0
CFTR-206
H0Y8A9
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
190 aa
21.6 kDa
No 2
CFTR-209
M0QYZ3
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
156 aa
17.4 kDa
No 0
CFTR-216
A0A3B3ITW0
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
842 aa
96.1 kDa
No >9
CFTR-217
A0A3B3ITW5
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
1187 aa
135.3 kDa
No >9
CFTR-218
P13569
Show all
Enzymes
Transporters
Predicted membrane proteins
Plasma proteins
Cancer-related genes
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
1419 aa
161.6 kDa
No >9
CFTR-220
A0A669KBE8
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
333 aa
38.2 kDa
No 5
CFTR-223
A0A8I5KXQ9
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
280 aa
31.3 kDa
No 0
CFTR-228
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
536 aa
61.6 kDa
No 5
CFTR-229
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
478 aa
54.8 kDa
No 5
CFTR-234
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
1478 aa
168 kDa
No >9
CFTR-237
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
1338 aa
151.8 kDa
No >9
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, Pancreas - Proteolysis

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
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 34
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
CANX126723538124
CAP1311530
CAPZB9661276660
CLIC134900
COPG1164271911
DERL15253800
DRG1209271850
DSTN351010
FHL2291006110
GNB2242647063
GOPC6292500
HSPD120371251145
KRT13320800
KRT31172841900
MCCC222900
NOP538524064
PDIA3784612
PDZK1261500
PPP2R1A50351221547
PSMD43835972416
RNF5144432010
SDHA452829
SLC9A3R111193030
SLC9A3R214292610
STAU13213369390
TFG5451110
TMEM4011100
TRAFD114300
TRIM5231200
USP10586310
VAPA74411101400
VAPB453473790
VDAC28205980
VPS4A851156
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 104 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ABRAXAS1451000
ACTB742717711134
AHCYL14282200
AKR7A315102
ALDOC13211
ANO101400
ANTXR202000
ARFGAP3129420
BCAP31211365304
C8orf33320720
CALM31058351620
CANX126723538124
CAP1311530
CAPN1381717
CAPZB9661276660
CASK9133210
CCDC9042111
CEP55105627121
CLIC134900
COASY12600
COPG1164271911
CRABP103000
CUL13231160111
DARS22139129
DDRGK1636417
DDX19A12501
DDX20129341012
DERL15253800
DHX309638330
DNAJB1401300
DNAJC1192200
DRG1209271850
DSTN351010
EDF126770
EPHX1011215
ERICH502002
ETFA441906
FASTKD2021740
FGL201001
FHL2291006110
GGA18162207
GNB2242647063
GOPC6292500
GORASP23411247420
GPX1013016
GSTT2B01000
HK124730
HMMR451150
HSPD120371251145
ITM2C01020
KCNN4081031
KPNA5317803
KRT13320800
KRT31172841900
KRT812203300
LPAR2134076
MCCC222900
MELTF010027
MRPS27133321062
MTFR206110
MYADM1113024
NAA106421519
NOP538524064
PDHA14410021
PDIA3784612
PDZK1261500
PPP1R3202100
PPP2R1A50351221547
PRAF2326551
PSMD43835972416
PTBP1674730
PTCD1175033
RBM14181154990
RNF5144432010
SCAMP141418205
SDHA452829
SH3BP411131651
SHC114177800
SLC33A101229
SLC9A3R111193030
SLC9A3R214292610
SNRPN7814049
SRP683644417920
ST6GALNAC102000
STAU13213369390
STK2613823370
TFG5451110
TK114172005
TMEM23701610
TMEM4011100
TRAFD114300
TRIM32113235015
TRIM5231200
USP10586310
USP2601200
VAPA74411101400
VAPB453473790
VDAC28205980
VPS4A851156
VPS4B27402
VTI1B6261080
XAGE324205
YTHDF111316026
ZNF22010318
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 234
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ABCC1100100
ACTN18265270
ACTN491440181
ACTR310932139
AHCY241350
AHNAK323412
AHSA15436200
AIMP13223113
ALDOA352512
AMFR131265015
ANXA1362021
ARCN18219104
ARF43321112
ARPC1B91020143
ARPC213521354
ARPC4991908
ARPC5L10513144
ATP2A2244100
ATP5F1A9866211
ATP5PO6183168
CALM27021830
CALML3245342
CANX126723538124
CAP1311530
CAPN2281200
CAPZA19939128
CAPZB9661276660
CBL313613030
CCT33011892060
CCT4235693235
CCT8188692520
CDH19355527
CFL17143964
CLIC134900
CLTC12139260
CNN200311
COMMD12523432726
COPA14138780
COPG1164271911
CPNE102400
CSE1L684340
CSTA36609
CTNNA16105050
CTPS1221181
DAB2472000
DARS14328133
DBN1373430
DERL15253800
DLST2552512
DNAJA111366199
DNAJA210564928
DNAJB1166421921
DNAJB2021200
DNAJC5332520
DRG1209271850
DSC100910
DSP333313
DSTN351010
DYNC1H1153758331
EEF2234790
EMD167292120
ENO1466451
EPRS1674594
ERLIN28543103
ESYT24233120
EXOC412192439
EZR8188554
FABP500311
FAF2335943
FASN263794
FHL2291006110
FKBP8213465460
FLG200204
FLNB582960
GGCT00220
GNAS132210
GNB2242647063
GOPC6292500
GPRC5A00501
GRN32181100
GRPEL1141502
GSN51251840
HACD3111990
HDAC6161916112
HNRNPM121681180
HNRNPUL18174470
HSP90AA15156349230
HSP90AB1631431642219
HSPA1B116910
HSPA284035641
HSPA4155126545
HSPA537322602586
HSPA8644344629101
HSPA991272412
HSPB12913810134
HSPD120371251145
HSPH18146220
IGF2BP310360370
IMMT8115720
ITGB406800
KPNB136141017111
KPRP0824025
KRT13320800
KRT1816284440
KRT31172841900
KRT712300
KRT8003100
LAMA5005022
LAMB3102030
LDHA232531
LGALS3BP773531
LIMA1543720
LMNA1754235323
LMO75113120
MARCHF2123500
MARS14122164
MCCC222900
MTHFD1001441
MYH10113350
MYH14211340
MYH991391262
MYL12A517110
MYL611923140
MYL921570
MYO18A31950
MYO612556150
NEDD4242615300
NOP538524064
NRIP306200
PABPC1202513900
PAWR451625
PCBP2443120
PCMT1231500
PDIA3784612
PDIA6152210
PDZK1261500
PFN112343250
PHB12712610
PKM3115440
PLD3032000
PLEC263610
PPIB1172210
PPP2R1A50351221547
PPP2R1B109271221
PRDX12103661
PRDX21623412
PRDX6072811
PRKAA173337100
PRKDC1113139171
PRRC2C001800
PSMA3225289130
PSMB14384634320
PSMC23620753415
PSMD24133964013
PSMD43835972416
QARS1125329010
RAB5A122057020
RACK155991382081
RAN3188726611
RARS1341990
RDX251701
RNF5144432010
RNH1451319
RPL1044312341135
RPL10A236893958
RPL144361034198
RPL15226932626
RPL2411380333
RPL28117443139
RPL34231110185
RPL348324352
RPL35A4523135
RPL3614871382
RPL7175103327
RPL8243853481
RPLP058610938162
RPLP2212623925
RPN13210123653
RPS129465353
RPS13285993727
RUVBL152161252939
RUVBL2671113910333
S100A7227719
S100A82310012
SDHA452829
SEC23A102519111
SEC61A17332200
SELENOS211111
SEPTIN78817110
SEPTIN9642690
SFN591269910
SLC25A3002300
SLC9A3R111193030
SLC9A3R214292610
SNAP231292880
SPTAN19105570
SPTBN1373900
SPTLC1135260
SQSTM1314030520
SSBP1245906
STAU13213369390
STUB12657186020
STX1A8962600
TECR32217100
TES232000
TFG5451110
TGM2251501
TMEM33111190
TMEM4011100
TNS345710
TP5312016068250
TPM1581900
TPM4131800
TRAFD114300
TRIM213249300
TRIM5231200
TUBB35416029
UBE2I314017205
UBE3A7811410
USP10586310
USP9X229200
VAPA74411101400
VAPB453473790
VCL6423100
VCP5453347435
VDAC28205980
VIM36881021425
VPS4A851156
XRCC51418131132
YTHDF2002850
YWHAB184933342450
YWHAE23512438032412
YWHAG25226342722213
YWHAZ2201643373248
Show allShow less
CFTR has no defined protein interactions in OpenCell.
CFTR has no defined protein interactions in BioPlex.
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.

CFTR is not a metabolic protein

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