KEGG   Homo sapiens (human): 1080
Entry
1080              CDS       T01001                                 
Symbol
CFTR, ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1
Name
(RefSeq) CF transmembrane conductance regulator
  KO
K05031  cystic fibrosis transmembrane conductance regulator [EC:5.6.1.6]
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
hsa04024  cAMP signaling pathway
hsa04152  AMPK signaling pathway
hsa04530  Tight junction
hsa04971  Gastric acid secretion
hsa04972  Pancreatic secretion
hsa04976  Bile secretion
hsa05110  Vibrio cholerae infection
Disease
H00218  Cystic fibrosis
H00933  Hereditary pancreatitis
H01033  Congenital bilateral absence of vas deferens
Drug target
Bamocaftor (DG03043): D11535 D11536
Crofelemer: D03605<US>
Deutivacaftor: D11423
Elexacaftor: D11507
Galicaftor: D11724
Icenticaftor: D12454
Ivacaftor: D09916<US>
Ivacaftor and lumacaftor: D10685<US>
Ivacaftor and tezacaftor: D11042<US>
Ivacaftor, tezacaftor and elexacaftor: D11700<US>
Lumacaftor: D10134
Navocaftor: D12140
Nesolicaftor: D11682
Olacaftor: D11402
Posenacaftor: D11683
Tezacaftor: D11041
Vanzacaftor (DG03278): D12718 D12719
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09131 Membrane transport
   02010 ABC transporters
    1080 (CFTR)
  09132 Signal transduction
   04024 cAMP signaling pathway
    1080 (CFTR)
   04152 AMPK signaling pathway
    1080 (CFTR)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04530 Tight junction
    1080 (CFTR)
 09150 Organismal Systems
  09154 Digestive system
   04971 Gastric acid secretion
    1080 (CFTR)
   04972 Pancreatic secretion
    1080 (CFTR)
   04976 Bile secretion
    1080 (CFTR)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05110 Vibrio cholerae infection
    1080 (CFTR)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    1080 (CFTR)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.1  Enzymes altering polypeptide conformation or assembly
    5.6.1.6  channel-conductance-controlling ATPase
     1080 (CFTR)
Transporters [BR:hsa02000]
 ABC transporters, eukaryotic type
  ABCC (CFTR/MRP) subfamily
   ABCC7 subgroup
    1080 (CFTR)
SSDB
Motif
Pfam: ABC_membrane CFTR_R ABC_tran AAA_21 SMC_N AAA_29 AAA_16 DUF87 T2SSE RsgA_GTPase MeaB DO-GTPase2 AAA_30 Zeta_toxin MMR_HSR1 AAA_23 NTPase_1 Intein_splicing
Other DBs
NCBI-GeneID: 1080
NCBI-ProteinID: NP_000483
OMIM: 602421
HGNC: 1884
Ensembl: ENSG00000001626
UniProt: P13569
Structure
Position
7:117480025..117668665
AA seq 1480 aa
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRE
LASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIA
IYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQL
VSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA
YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQT
WYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRK
TSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV
LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR
ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNS
ILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQG
QNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESI
PAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN
NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATV
PVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHK
ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIM
STLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRL
LNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD
EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVT
YQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL
NT seq 4443 nt   +upstreamnt  +downstreamnt
atgcagaggtcgcctctggaaaaggccagcgttgtctccaaactttttttcagctggacc
agaccaattttgaggaaaggatacagacagcgcctggaattgtcagacatataccaaatc
ccttctgttgattctgctgacaatctatctgaaaaattggaaagagaatgggatagagag
ctggcttcaaagaaaaatcctaaactcattaatgcccttcggcgatgttttttctggaga
tttatgttctatggaatctttttatatttaggggaagtcaccaaagcagtacagcctctc
ttactgggaagaatcatagcttcctatgacccggataacaaggaggaacgctctatcgcg
atttatctaggcataggcttatgccttctctttattgtgaggacactgctcctacaccca
gccatttttggccttcatcacattggaatgcagatgagaatagctatgtttagtttgatt
tataagaagactttaaagctgtcaagccgtgttctagataaaataagtattggacaactt
gttagtctcctttccaacaacctgaacaaatttgatgaaggacttgcattggcacatttc
gtgtggatcgctcctttgcaagtggcactcctcatggggctaatctgggagttgttacag
gcgtctgccttctgtggacttggtttcctgatagtccttgccctttttcaggctgggcta
gggagaatgatgatgaagtacagagatcagagagctgggaagatcagtgaaagacttgtg
attacctcagaaatgattgaaaatatccaatctgttaaggcatactgctgggaagaagca
atggaaaaaatgattgaaaacttaagacaaacagaactgaaactgactcggaaggcagcc
tatgtgagatacttcaatagctcagccttcttcttctcagggttctttgtggtgttttta
tctgtgcttccctatgcactaatcaaaggaatcatcctccggaaaatattcaccaccatc
tcattctgcattgttctgcgcatggcggtcactcggcaatttccctgggctgtacaaaca
tggtatgactctcttggagcaataaacaaaatacaggatttcttacaaaagcaagaatat
aagacattggaatataacttaacgactacagaagtagtgatggagaatgtaacagccttc
tgggaggagggatttggggaattatttgagaaagcaaaacaaaacaataacaatagaaaa
acttctaatggtgatgacagcctcttcttcagtaatttctcacttcttggtactcctgtc
ctgaaagatattaatttcaagatagaaagaggacagttgttggcggttgctggatccact
ggagcaggcaagacttcacttctaatggtgattatgggagaactggagccttcagagggt
aaaattaagcacagtggaagaatttcattctgttctcagttttcctggattatgcctggc
accattaaagaaaatatcatctttggtgtttcctatgatgaatatagatacagaagcgtc
atcaaagcatgccaactagaagaggacatctccaagtttgcagagaaagacaatatagtt
cttggagaaggtggaatcacactgagtggaggtcaacgagcaagaatttctttagcaaga
gcagtatacaaagatgctgatttgtatttattagactctccttttggatacctagatgtt
ttaacagaaaaagaaatatttgaaagctgtgtctgtaaactgatggctaacaaaactagg
attttggtcacttctaaaatggaacatttaaagaaagctgacaaaatattaattttgcat
gaaggtagcagctatttttatgggacattttcagaactccaaaatctacagccagacttt
agctcaaaactcatgggatgtgattctttcgaccaatttagtgcagaaagaagaaattca
atcctaactgagaccttacaccgtttctcattagaaggagatgctcctgtctcctggaca
gaaacaaaaaaacaatcttttaaacagactggagagtttggggaaaaaaggaagaattct
attctcaatccaatcaactctatacgaaaattttccattgtgcaaaagactcccttacaa
atgaatggcatcgaagaggattctgatgagcctttagagagaaggctgtccttagtacca
gattctgagcagggagaggcgatactgcctcgcatcagcgtgatcagcactggccccacg
cttcaggcacgaaggaggcagtctgtcctgaacctgatgacacactcagttaaccaaggt
cagaacattcaccgaaagacaacagcatccacacgaaaagtgtcactggcccctcaggca
aacttgactgaactggatatatattcaagaaggttatctcaagaaactggcttggaaata
agtgaagaaattaacgaagaagacttaaaggagtgcttttttgatgatatggagagcata
ccagcagtgactacatggaacacataccttcgatatattactgtccacaagagcttaatt
tttgtgctaatttggtgcttagtaatttttctggcagaggtggctgcttctttggttgtg
ctgtggctccttggaaacactcctcttcaagacaaagggaatagtactcatagtagaaat
aacagctatgcagtgattatcaccagcaccagttcgtattatgtgttttacatttacgtg
ggagtagccgacactttgcttgctatgggattcttcagaggtctaccactggtgcatact
ctaatcacagtgtcgaaaattttacaccacaaaatgttacattctgttcttcaagcacct
atgtcaaccctcaacacgttgaaagcaggtgggattcttaatagattctccaaagatata
gcaattttggatgaccttctgcctcttaccatatttgacttcatccagttgttattaatt
gtgattggagctatagcagttgtcgcagttttacaaccctacatctttgttgcaacagtg
ccagtgatagtggcttttattatgttgagagcatatttcctccaaacctcacagcaactc
aaacaactggaatctgaaggcaggagtccaattttcactcatcttgttacaagcttaaaa
ggactatggacacttcgtgccttcggacggcagccttactttgaaactctgttccacaaa
gctctgaatttacatactgccaactggttcttgtacctgtcaacactgcgctggttccaa
atgagaatagaaatgatttttgtcatcttcttcattgctgttaccttcatttccatttta
acaacaggagaaggagaaggaagagttggtattatcctgactttagccatgaatatcatg
agtacattgcagtgggctgtaaactccagcatagatgtggatagcttgatgcgatctgtg
agccgagtctttaagttcattgacatgccaacagaaggtaaacctaccaagtcaaccaaa
ccatacaagaatggccaactctcgaaagttatgattattgagaattcacacgtgaagaaa
gatgacatctggccctcagggggccaaatgactgtcaaagatctcacagcaaaatacaca
gaaggtggaaatgccatattagagaacatttccttctcaataagtcctggccagagggtg
ggcctcttgggaagaactggatcagggaagagtactttgttatcagcttttttgagacta
ctgaacactgaaggagaaatccagatcgatggtgtgtcttgggattcaataactttgcaa
cagtggaggaaagcctttggagtgataccacagaaagtatttattttttctggaacattt
agaaaaaacttggatccctatgaacagtggagtgatcaagaaatatggaaagttgcagat
gaggttgggctcagatctgtgatagaacagtttcctgggaagcttgactttgtccttgtg
gatgggggctgtgtcctaagccatggccacaagcagttgatgtgcttggctagatctgtt
ctcagtaaggcgaagatcttgctgcttgatgaacccagtgctcatttggatccagtaaca
taccaaataattagaagaactctaaaacaagcatttgctgattgcacagtaattctctgt
gaacacaggatagaagcaatgctggaatgccaacaatttttggtcatagaagagaacaaa
gtgcggcagtacgattccatccagaaactgctgaacgagaggagcctcttccggcaagcc
atcagcccctccgacagggtgaagctctttccccaccggaactcaagcaagtgcaagtct
aagccccagattgctgctctgaaagaggagacagaagaagaggtgcaagatacaaggctt
tag

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (8)   
   KEGG PATHWAY (8)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Drug (19)   
   KEGG DRUG (19)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   NAGAHAMA-S (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (11)   
   RefSeq(nuc) (1)   
   GenBank (5)   
   EMBL (5)   
3D Structure (48)   
   PDB (48)   
Protein domain (18)   
   Pfam (18)   
All databases (135)   

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