| |
|---|---|
| Accession Number: | P13569 |
| Protein Name: | CFTR aka ABCC7 |
| Length: | 1480 |
| Molecular Weight: | 168142.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 11 |
| Location1 / Topology2 / Orientation3: | Early endosome membrane1 / Multi-pass membrane protein2 |
| Substrate | chloride, hydrogencarbonate, glutathione |
Cross database links:
| DIP: | DIP-32788N |
|---|---|
| RefSeq: | NP_000483.3 |
| Entrez Gene ID: | 1080 |
| Pfam: | PF00664 PF00005 |
| OMIM: |
219700 phenotype 277180 phenotype 602421 gene |
| KEGG: | hsa:1080 |
Gene Ontology
GO:0016324
C:apical plasma membrane
GO:0016323
C:basolateral plasma membrane
GO:0034707
C:chloride channel complex
GO:0005769
C:early endosome
GO:0005524
F:ATP binding
GO:0005224
F:ATP-binding and phosphorylation-dependent c...
GO:0005260
F:channel-conductance-controlling ATPase acti...
GO:0019899
F:enzyme binding
GO:0030165
F:PDZ domain binding
GO:0007585
P:respiratory gaseous exchange
GO:0055085
P:transmembrane transport
| |
References (71)[1] “Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.” Riordan J.R.et.al. 2475911 [2] “Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.” Zielenski J.et.al. 1710598 [3] “The DNA sequence of human chromosome 7.” Hillier L.W.et.al. 12853948 [4] “Human chromosome 7: DNA sequence and biology.” Scherer S.W.et.al. 12690205 [5] “Phosphorylation of the cystic fibrosis transmembrane conductance regulator.” Picciotto M.R.et.al. 1377674 [6] “Mapping of cystic fibrosis transmembrane conductance regulator membrane topology by glycosylation site insertion.” Chang X.-B.et.al. 7518437 [7] “Evidence for phosphorylation of serine 753 in CFTR using a novel metal-ion affinity resin and matrix-assisted laser desorption mass spectrometry.” Neville D.C.A.et.al. 9385646 [8] “Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element.” Pagani F.et.al. 10766763 [9] “A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression.” Cheng J.et.al. 11707463 [10] “The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3.” Park M.et.al. 12403779 [11] “Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator.” Swiatecka-Urban A.et.al. 15247260 [12] “Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis.” McIntosh I.et.al. 1378801 [13] “Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.” Aznarez I.et.al. 12913074 [14] “Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA.” Chappe V.et.al. 12588899 [15] “Tyrosine phosphorylated Par3 regulates epithelial tight junction assembly promoted by EGFR signaling.” Wang Y.et.al. 17053785 [16] “Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.” Gauci S.et.al. 19413330 [17] “The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells.” Bomberger J.M.et.al. 19398555 [18] “A model for the nucleotide-binding domains of ABC transporters based on the large domain of aspartate aminotransferase.” Hoedemaeker F.J.et.al. 9517543 [19] “Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator.” Karthikeyan S.et.al. 11304524 [20] “Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.” Tsui L.-C.et.al. 1284534 [21] “A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.” Cutting G.R.et.al. 1695717 [22] “Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.” Kerem B.-S.et.al. 2236053 [23] “Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).” White M.B.et.al. 1710600 [24] “Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.” Jones C.T.et.al. 1284466 [25] “A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.” Cheadle J.P.et.al. 1284468 [26] “A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.” Lissens W.et.al. 1284530 [27] “Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.” Shackleton S.et.al. 1284529 [28] “Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.” Zielenski J.et.al. 7680525 [29] “Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.” Mercier B.et.al. 7683628 [30] “A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.” Nunes V.et.al. 7683954 [31] “Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.” Chillon M.et.al. 7505694 [32] “Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.” Gasparini P.et.al. 7504969 [33] “Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.” Ghaneb N.et.al. 7522211 [34] “Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.” Boteva K.et.al. 7513296 [35] “Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.” Doerk T.et.al. 7525450 [36] “A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.” Greil I.et.al. 7520022 [37] “Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.” Petreska L.et.al. 7524913 [38] “A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.” Schaedel C.et.al. 7524909 [39] “Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).” Chillon M.et.al. 7517264 [40] “A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.” Bienvenu T.et.al. 8081395 [41] “Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.” Mercier B.et.al. 7529962 [42] “Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.” Jezequel P.et.al. 7539342 [43] “Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.” Brancolini V.et.al. 7544319 [44] “Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.” Desgeorges M.et.al. 8522333 [45] “Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.” Zielenski J.et.al. 7537150 [46] “Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.” Verlingue C.et.al. 7541273 [47] “Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.” Romey M.-C.et.al. 7581407 [48] “A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration.” Leoni G.B.et.al. 7543567 [49] “Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.” Ferec C.et.al. 7541510 [50] “Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.” Messaoud T.et.al. 8800923 [51] “Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.” Nasr S.Z.et.al. 8829633 [52] “A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.” Petreska L.et.al. 8723693 [53] “Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.” Bienvenu T.et.al. 8723695 [54] “Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.” Hughes D.J.et.al. 8956039 [55] “Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).” Zielenski J.et.al. 9067761 [56] “Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.” Clavel C.et.al. 9101301 [57] “Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.” Gouya L.et.al. 9222768 [58] “Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.” Casals T.et.al. 9375855 [59] “Cystic fibrosis mutation frequencies in upstate New York.” Shrimpton A.E.et.al. 9401006 [60] “Cystic fibrosis transmembrane-conductance regulator mutations among African Americans.” Friedman K.J.et.al. 9443874 [61] “Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).” Onay T.et.al. 9521595 [62] “Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.” Bombieri C.et.al. 9921909 [63] “Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.” Vankeerberghen A.et.al. 9736778 [64] “Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).” Malone G.et.al. 9482579 [65] “Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.” Leoni G.B.et.al. 9554753 [66] “Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121+1G-->A in four French patients.” Feldmann D.et.al. 9452048 [67] “Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.” Casals T.et.al. 9452054 | |
| Structure: | |
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External Searches:
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| FASTA formatted sequence |
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1: MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE 61: LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA 121: IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL 181: VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL 241: GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA 301: YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT 361: WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK 421: TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG 481: KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV 541: LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR 601: ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS 661: ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ 721: MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG 781: QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI 841: PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN 901: NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP 961: MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV 1021: PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK 1081: ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM 1141: STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK 1201: DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL 1261: LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD 1321: EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT 1381: YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA 1441: ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL