Cftr (CF transmembrane conductance regulator) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: Cftr (CF transmembrane conductance regulator) Chinchilla lanigera
Analyze
Symbol: Cftr
Name: CF transmembrane conductance regulator
RGD ID: 9007908
Description: ENCODES a protein that exhibits ATP hydrolysis activity (ortholog); bicarbonate transmembrane transporter activity (ortholog); chloride channel activity (ortholog); INVOLVED IN amelogenesis (ortholog); bicarbonate transport (ortholog); cellular response to anoxia (ortholog); ASSOCIATED WITH alcoholic pancreatitis (ortholog); allergic bronchopulmonary aspergillosis (ortholog); Alzheimer's disease (ortholog); FOUND IN apical plasma membrane (ortholog); basolateral plasma membrane (ortholog); cell surface (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
Position:
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
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)
male infertility  (ISO)
megacolon  (ISO)
Metabolic Bone Diseases  (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  (ISO)
bicarbonate transport  (ISO)
cellular response to anoxia  (ISO)
cellular response to cAMP  (ISO)
cellular response to forskolin  (ISO)
cellular response to heat  (ISO)
cellular response to hormone stimulus  (ISO)
chloride transmembrane transport  (ISO)
chloride transport  (ISO)
cholesterol biosynthetic process  (ISO)
cholesterol transport  (ISO)
enamel mineralization  (ISO)
establishment of localization in cell  (ISO)
intracellular pH elevation  (ISO)
liver regeneration  (ISO)
lung development  (ISO)
membrane hyperpolarization  (ISO)
multicellular organismal-level water homeostasis  (ISO)
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  (ISO)
positive regulation of establishment of Sertoli cell barrier  (ISO)
positive regulation of exocytosis  (ISO)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (ISO)
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  (ISO)
response to estrogen  (ISO)
response to peptide hormone  (ISO)
response to xenobiotic stimulus  (ISO)
sodium ion transmembrane transport  (ISO)
sperm capacitation  (ISO)
transepithelial chloride transport  (ISO)
transepithelial water transport  (ISO)
vasodilation  (ISO)
vesicle docking involved in exocytosis  (ISO)
water transport  (ISO)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Transitive Annotation Pipeline Automated assignment of GO, PW and RDO ISO annotations across species
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline

Genomics

Comparative Map Data
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
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387117,480,025 - 117,668,665 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 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
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_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0447,476,543 - 47,643,463 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0445,898,615 - 46,060,553 (+)NCBIRnor_WKY
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 Map4q21NCBI
CFTR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan176,319,752 - 6,503,110 (+)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
(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


Sequence


Reference Sequences
RefSeq Acc Id: ENSCLAT00000005000   ⟹   ENSCLAP00000004908
RefSeq Status:
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_00495543223,178,866 - 23,328,382 (+)Ensembl
RefSeq Acc Id: XM_005388136   ⟹   XP_005388193
RefSeq Status:
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495543223,179,647 - 23,328,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_013515961   ⟹   XP_013371415
RefSeq Status:
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495543223,179,645 - 23,328,347 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs XP_005388193 (Get FASTA)   NCBI Sequence Viewer  
  XP_013371415 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: XP_005388193   ⟸   XM_005388136
- Peptide Label: isoform X1
- UniProtKB: A0A8C2UTC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013371415   ⟸   XM_013515961
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSCLAP00000004908   ⟸   ENSCLAT00000005000

Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCLAG00000003484 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSCLAP00000004908 ENTREZGENE
  ENSCLAP00000004908.1 UniProtKB/TrEMBL
Ensembl Transcript ENSCLAT00000005000 ENTREZGENE
  ENSCLAT00000005000.1 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_ATP-bd UniProtKB/TrEMBL
  ABC_transporter-like_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
TIGRFAMs CFTR_protein UniProtKB/TrEMBL
UniProt A0A8C2UTC8 ENTREZGENE, 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
2016-08-16 Cftr  cystic fibrosis transmembrane conductance regulator    cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)  Symbol and/or name change 5135510 APPROVED