KEGG   Homo sapiens (human): 1080Help
Entry
1080              CDS       T01001                                 

Gene name
CFTR, ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1
Definition
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (EC:3.6.3.49)
Orthology
K05031  
cystic fibrosis transmembrane conductance regulator [EC:3.6.3.49]
Organism
hsa  Homo sapiens (human)
Pathway
ABC transporters
cAMP signaling pathway
AMPK signaling pathway
Gastric acid secretion
Pancreatic secretion
Bile secretion
Vibrio cholerae infection
Disease
H00218  
Cystic fibrosis (CF)
H00933  
Hereditary pancreatitis
H01033  
Congenital bilateral absence of vas deferens
Drug target
Suramin sodium: 
Ivacaftor: 
Other: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Membrane transport
   02010 ABC transporters
    1080 (CFTR)
  Signal transduction
   04024 cAMP signaling pathway
    1080 (CFTR)
   04152 AMPK signaling pathway
    1080 (CFTR)
 Organismal Systems
  Digestive system
   04971 Gastric acid secretion
    1080 (CFTR)
   04972 Pancreatic secretion
    1080 (CFTR)
   04976 Bile secretion
    1080 (CFTR)
 Human Diseases
  Infectious diseases
   05110 Vibrio cholerae infection
    1080 (CFTR)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.3  Acting on acid anhydrides to catalyse transmembrane movement of substances
    3.6.3.49  channel-conductance-controlling ATPase
     1080 (CFTR)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Structure
PDB: 

Jmol
Position
7q31.2
AA seq 1480 aa AA seqDB search
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 NT seq  +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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