| General information | | DisProt: | DP00012 | | Name: | Cystic fibrosis transmembrane conductance regulator | | Synonym(s): | CFTR_HUMAN
CFTR
Channel conductance-controlling ATPase
cAMP-dependent chloride channel
ATP-binding cassette transporter sub-family C member 7
EC=3.6.3.49
| | First appeared in release: | Release 1.0 (08/01/2003) | | UniProt: | P13569 | | UniGene: | Hs.489786 | | SwissProt: | CFTR_HUMAN | | TrEMBL: | | | NCBI (GI): | 147744553 | | Source organism: | Homo sapiens (Human) | | Sequence length: | 1480 | | Percent disordered: | 8% | | Homologues: | |
| Native sequence |
10 20 30 40 50 60
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MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE - 60
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA - 120
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL - 180
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL - 240
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA - 300
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT - 360
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK - 420
TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG - 480
KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV - 540
LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR - 600
ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS - 660
ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ - 720
MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG - 780
QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI - 840
PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN - 900
NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP - 960
MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV - 1020
PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK - 1080
ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM - 1140
STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK - 1200
DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL - 1260
LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD - 1320
EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT - 1380
YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA - 1440
ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL
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| Functional narrative |
Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter.
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| Map of ordered and disordered regions |
Note: 'Mouse' over a region to see the start and stop residues. Click on a region to see detailed information.
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| Region 1 | | Type: | Disordered | | Name: | R8 | | Location: | 708 - 831 | | Length: | 124 | | Region sequence: |
IRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQ
SVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEE
DLKE | | Modification type: | Native
| | PDB: | | | Structural/functional type: | | | Functional classes: | | | Functional subclasses: | Phosphorylation
| Detection methods:
- Circular dichroism (CD) spectroscopy, near-UV (295 K; pH: 9; averaging time 2 s; Aviv CD Model 62DS; bandwidth 1 nm; path length (quartz cuvette) 0.2 cm; protein (sample) 0.15 mg/mL)
- Analytical ultracentrifugation (298 K; pH: 9; An-60 Ti (rotor); Beckman XL-I (centrifuge); glycine 10 mM; NaCl 0.1 M)
| References:
- Ostedgaard LS, Baldursson O, Vermeer DW, Welsh MJ, Robertson AD. "A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution." Proc Natl Acad Sci U S A. 2000; 97(10): 5657-62. PubMed: 10792060
| Comments:
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| References |
- Ostedgaard LS, Baldursson O, Vermeer DW, Welsh MJ, Robertson AD. "A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution." Proc Natl Acad Sci U S A. 2000; 97(10): 5657-62. PubMed: 10792060
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| Comments |
The sequence contains a mismatch at amino acid 470 when compared to PIR and SwissProt.
Additional UniGene IDs, Hs.621460 and Hs.661104
Sent for AV (6-15-2010) PubMed: 10792060
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