CFTR (CF transmembrane conductance regulator) - Rat Genome Database

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Gene: CFTR (CF transmembrane conductance regulator) Pan paniscus
Analyze
Symbol: CFTR
Name: CF transmembrane conductance regulator
RGD ID: 11733191
Description: ENCODES a protein that exhibits 14-3-3 protein binding (inferred); ABC-type transporter activity (inferred); ATP binding (inferred); INVOLVED IN bicarbonate transport (ortholog); cellular response to anoxia (ortholog); cellular response to heat (ortholog); ASSOCIATED WITH alcoholic pancreatitis (ortholog); allergic bronchopulmonary aspergillosis (ortholog); Alzheimer's disease (ortholog); FOUND IN apical plasma membrane (ortholog); basolateral plasma membrane (ortholog); dendrite (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: cystic fibrosis transmembrane conductance regulator
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly
Position:
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26154,309,496 - 154,492,867 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan176,319,752 - 6,503,124 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07109,449,847 - 109,633,023 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17122,144,821 - 122,327,511 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7122,129,798 - 122,327,864 (+)Ensemblpanpan1.1panPan2
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
alcoholic pancreatitis  (ISO)
allergic bronchopulmonary aspergillosis  (ISO)
Alzheimer's disease  (ISO)
aspergillosis  (ISO)
asthma  (ISO)
autism spectrum disorder  (ISO)
autosomal recessive congenital bilateral absence of vas deferens  (ISO)
autosomal recessive polycystic kidney disease  (ISO)
azoospermia  (ISO)
Breast Neoplasms  (ISO)
bronchiectasis  (ISO)
bronchiectasis 1  (ISO)
choledochal cyst  (ISO)
cholelithiasis  (ISO)
cholestasis  (ISO)
Chronic Bronchitis  (ISO)
chronic obstructive pulmonary disease  (ISO)
Chronic Pancreatitis  (ISO)
Colorectal Neoplasms  (ISO)
congenital bilateral absence of vas deferens  (ISO)
cryptorchidism  (ISO)
cystic fibrosis  (ISO)
dental enamel hypoplasia  (ISO)
Diaphragmatic Hernia  (ISO)
duodenal atresia  (ISO)
duodenal ulcer  (ISO)
exocrine pancreatic insufficiency  (ISO)
Experimental Diabetes Mellitus  (ISO)
gastric ulcer  (ISO)
genetic disease  (ISO)
Hereditary Pancreatitis  (ISO)
Hypertriglyceridemia  (ISO)
infertility  (ISO)
influenza  (ISO)
Liver Injury  (ISO)
lung cancer  (ISO)
lung disease  (ISO)
Lynch syndrome  (ISO)
male infertility  (ISO)
megacolon  (ISO)
Metabolic Bone Diseases  (ISO)
multiple acyl-CoA dehydrogenase deficiency  (ISO)
myocardial infarction  (ISO)
Nontuberculous Mycobacterium Infections  (ISO)
Nuchal Bleb, Familial  (ISO)
pancreatic cancer  (ISO)
pancreatitis  (ISO)
pleomorphic xanthoastrocytoma  (ISO)
primary sclerosing cholangitis  (ISO)
prostatic hypertrophy  (ISO)
Pseudomonas Infections  (ISO)
pulmonary sarcoidosis  (ISO)
renal agenesis  (ISO)
renal cell carcinoma  (ISO)
Renal Cell Carcinoma 1  (ISO)
respiratory syncytial virus infectious disease  (ISO)
rhinitis  (ISO)
salpingitis  (ISO)
schizophrenia  (ISO)
sinusitis  (ISO)
Staphylococcal Pneumonia  (ISO)
substance-related disorder  (ISO)
tracheal disease  (ISO)
typhoid fever  (ISO)
Y-linked spermatogenic failure 2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amelogenesis  (IEA)
bicarbonate transport  (IEA,ISO)
cellular response to anoxia  (ISO)
cellular response to cAMP  (IEA)
cellular response to forskolin  (IEA)
cellular response to heat  (ISO)
cellular response to hormone stimulus  (ISO)
chloride transmembrane transport  (IEA)
chloride transport  (IEA,ISO)
cholesterol biosynthetic process  (IEA,ISO)
cholesterol transport  (IEA,ISO)
enamel mineralization  (ISO)
establishment of localization in cell  (IEA,ISO)
intracellular pH elevation  (IEA)
liver regeneration  (ISO)
lung development  (ISO)
membrane hyperpolarization  (IEA)
monoatomic ion transmembrane transport  (IEA)
monoatomic ion transport  (IEA)
multicellular organismal-level water homeostasis  (IEA)
negative regulation of type B pancreatic cell development  (ISO)
negative regulation of vascular associated smooth muscle cell apoptotic process  (ISO)
positive regulation of cyclic nucleotide-gated ion channel activity  (ISO)
positive regulation of enamel mineralization  (IEA)
positive regulation of establishment of Sertoli cell barrier  (ISO)
positive regulation of exocytosis  (IEA)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (IEA)
positive regulation of mast cell activation  (ISO)
positive regulation of voltage-gated chloride channel activity  (ISO)
regulation of membrane depolarization  (ISO)
response to cytokine  (ISO)
response to endoplasmic reticulum stress  (IEA)
response to estrogen  (ISO)
response to peptide hormone  (ISO)
response to xenobiotic stimulus  (ISO)
sodium ion transmembrane transport  (ISO)
sperm capacitation  (IEA)
transepithelial chloride transport  (ISO)
transepithelial water transport  (IEA)
transmembrane transport  (IEA)
vasodilation  (ISO)
vesicle docking involved in exocytosis  (IEA)
water transport  (ISO)

References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
CFTR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26154,309,496 - 154,492,867 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan176,319,752 - 6,503,124 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07109,449,847 - 109,633,023 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17122,144,821 - 122,327,511 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7122,129,798 - 122,327,864 (+)Ensemblpanpan1.1panPan2
CFTR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387117,480,025 - 117,668,665 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7117,287,120 - 117,715,971 (+)EnsemblGRCh38hg38GRCh38
GRCh377117,120,079 - 117,308,719 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367116,907,253 - 117,095,955 (+)NCBINCBI36Build 36hg18NCBI36
Build 347116,713,967 - 116,902,666NCBI
Celera7111,928,196 - 112,116,895 (+)NCBICelera
Cytogenetic Map7q31.2NCBI
HuRef7111,485,640 - 111,674,189 (+)NCBIHuRef
CHM1_17117,053,369 - 117,242,163 (+)NCBICHM1_1
T2T-CHM13v2.07118,795,361 - 118,984,026 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27116,515,451 - 116,704,154 (+)NCBI
Cftr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39618,170,686 - 18,322,769 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl618,170,686 - 18,322,767 (+)EnsemblGRCm39 Ensembl
GRCm38618,170,687 - 18,322,770 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl618,170,687 - 18,322,768 (+)EnsemblGRCm38mm10GRCm38
MGSCv37618,120,687 - 18,272,770 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36618,120,687 - 18,272,767 (+)NCBIMGSCv36mm8
Celera618,244,038 - 18,394,318 (+)NCBICelera
Cytogenetic Map6A2NCBI
cM Map68.1NCBI
Cftr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8447,422,084 - 47,694,646 (+)NCBIGRCr8
mRatBN7.2446,561,269 - 46,728,759 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl446,560,885 - 46,728,756 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx451,555,445 - 51,722,327 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0447,476,543 - 47,643,463 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0445,898,615 - 46,060,553 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0442,693,263 - 42,860,679 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl442,692,836 - 42,860,676 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0442,281,040 - 42,448,571 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4443,874,852 - 44,041,870 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1444,147,212 - 44,195,889 (+)NCBI
Celera441,826,966 - 41,988,614 (+)NCBICelera
Cytogenetic Map4q22NCBI
Cftr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543223,178,866 - 23,328,382 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543223,179,645 - 23,328,347 (+)NCBIChiLan1.0ChiLan1.0
CFTR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11456,290,417 - 56,452,919 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1456,290,275 - 56,453,977 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1455,685,755 - 55,848,173 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01456,330,071 - 56,492,372 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1456,329,929 - 56,492,482 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11456,368,632 - 56,531,008 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01456,049,412 - 56,212,168 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01456,421,094 - 56,583,513 (+)NCBIUU_Cfam_GSD_1.0
Cftr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511844,970,647 - 45,124,331 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365891,565,933 - 1,719,208 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CFTR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1828,627,728 - 28,817,950 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11828,627,717 - 28,818,209 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21830,396,465 - 30,566,680 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CFTR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12186,154,313 - 86,332,436 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604217,387,997 - 17,576,802 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cftr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248271,704,733 - 1,893,579 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSPPAT00000058274   ⟹   ENSPPAP00000035386
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl7122,129,798 - 122,327,864 (+)Ensembl
Ensembl Acc Id: ENSPPAT00000058280   ⟹   ENSPPAP00000035392
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl7122,129,798 - 122,302,467 (+)Ensembl
Ensembl Acc Id: ENSPPAT00000058290   ⟹   ENSPPAP00000035402
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl7122,144,821 - 122,327,511 (+)Ensembl
RefSeq Acc Id: XM_055114832   ⟹   XP_054970807
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v26154,309,496 - 154,492,867 (+)NCBI
NHGRI_mPanPan176,319,752 - 6,503,124 (+)NCBI
Protein Sequences
Protein RefSeqs XP_054970807 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSPPAP00000035386.1
  ENSPPAP00000035392.1
  ENSPPAP00000035402.1
Ensembl Acc Id: ENSPPAP00000035386   ⟸   ENSPPAT00000058274
Ensembl Acc Id: ENSPPAP00000035392   ⟸   ENSPPAT00000058280
Ensembl Acc Id: ENSPPAP00000035402   ⟸   ENSPPAT00000058290
RefSeq Acc Id: XP_054970807   ⟸   XM_055114832
- UniProtKB: A0A2R9C0G7 (UniProtKB/TrEMBL)

Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSPPAG00000040492 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSPPAT00000058274.1 UniProtKB/TrEMBL
  ENSPPAT00000058280.1 UniProtKB/TrEMBL
  ENSPPAT00000058290.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/TrEMBL
InterPro AAA+_ATPase UniProtKB/TrEMBL
  ABC1_TM_dom UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/TrEMBL
  ABC_transporter_C UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/TrEMBL
  CFTR/ABCC7 UniProtKB/TrEMBL
  CFTR1_ATP-bd_dom1 UniProtKB/TrEMBL
  CFTR_reg_dom UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/TrEMBL
NCBI Gene CFTR ENTREZGENE
PANTHER ATP-BINDING CASSETTE SUB-FAMILY C UniProtKB/TrEMBL
  PTHR24223:SF19 UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/TrEMBL
  ABC_tran UniProtKB/TrEMBL
  CFTR_R UniProtKB/TrEMBL
PRINTS CYSFIBREGLTR UniProtKB/TrEMBL
PROSITE ABC_TM1F UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/TrEMBL
SMART AAA UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/TrEMBL
  SSF90123 UniProtKB/TrEMBL
UniProt A0A2R9C0F6_PANPA UniProtKB/TrEMBL
  A0A2R9C0G7 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R9C0Y6_PANPA UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-05-21 CFTR  CF transmembrane conductance regulator  CFTR  cystic fibrosis transmembrane conductance regulator  Symbol and/or name change 5135510 APPROVED