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E7EPB6

- E7EPB6_HUMAN

UniProt

E7EPB6 - E7EPB6_HUMAN

Protein

Cystic fibrosis transmembrane conductance regulator

Gene

CFTR

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 29 (01 Oct 2014)
      Sequence version 1 (08 Mar 2011)
      Previous versions | rss
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    Functioni

    Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter.UniRule annotation

    Catalytic activityi

    ATP + H2O = ADP + phosphate.UniRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. channel-conductance-controlling ATPase activity Source: UniProtKB-EC

    Keywords - Ligandi

    ATP-bindingUniRule annotation, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cystic fibrosis transmembrane conductance regulatorUniRule annotation (EC:3.6.3.49UniRule annotation)
    Alternative name(s):
    ATP-binding cassette sub-family C member 7UniRule annotation
    Channel conductance-controlling ATPaseUniRule annotation
    cAMP-dependent chloride channelUniRule annotation
    Gene namesi
    Name:CFTRImported
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:1884. CFTR.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: InterPro

    Expressioni

    Gene expression databases

    ArrayExpressiE7EPB6.
    BgeeiE7EPB6.

    Structurei

    3D structure databases

    ProteinModelPortaliE7EPB6.
    SMRiE7EPB6. Positions 328-641, 1122-1414.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily. [View classification]UniRule annotation
    Contains 2 ABC transmembrane type-1 domains.UniRule annotation
    Contains 2 ABC transporter domains.UniRule annotation

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR005291. cAMP_cl_channel.
    IPR025837. CFTR_reg_dom.
    IPR009147. CysFib_conduc_TM.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00664. ABC_membrane. 2 hits.
    PF00005. ABC_tran. 2 hits.
    PF14396. CFTR_R. 1 hit.
    [Graphical view]
    PRINTSiPR01851. CYSFIBREGLTR.
    SMARTiSM00382. AAA. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    SSF90123. SSF90123. 2 hits.
    TIGRFAMsiTIGR01271. CFTR_protein. 1 hit.
    PROSITEiPS50929. ABC_TM1F. 2 hits.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Fragment.

    E7EPB6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS     50
    EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL 100
    LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM 150
    QMRIAMFSLI YKKGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL 200
    IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA 250
    MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG 300
    IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY 350
    KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK TSNGDDSLFF 400
    SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG 450
    KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI 500
    SKFAEKDNIV LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV 550
    LTEKEIFESC VCKLMANKTR ILVTSKMEHL KKADKILILH EGSSYFYGTF 600
    SELQNLQPDF SSKLMGCDSF DQFSAERRNS ILTETLHRFS LEGDAPVSWT 650
    ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ MNGIEEDSDE 700
    PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG 750
    QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK 800
    ECFFDDMESI PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV 850
    LWLLGNTPLQ DKGNSTHSRN NSYAVIITST SSYYVFYIYV GVADTLLAMG 900
    FFRGLPLVHT LITVSKILHH KMLHSVLQAP MSTLNTLKAG GILNRFSKDI 950
    AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV PVIVAFIMLR 1000
    AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK 1050
    ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG 1100
    IILTLAMNIM STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK 1150
    PYKNGQLSKV MIIENSHVKK DDIWPSGGQM TVKDLTAKYT EGGNAILENI 1200
    SFSISPGQRV GLLGRTGSGK STLLSAFLRL LNTEGEIQID GVSWDSITLQ 1250
    QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD EVGLRSVIEQ 1300
    FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT 1350
    YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL 1400
    LNERSLFRQA ISPSDRVKLF PHRNSSKCKS KPQIAALK 1438
    Length:1,438
    Mass (Da):163,354
    Last modified:March 8, 2011 - v1
    Checksum:i3AE202CB4F6E1F1E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Non-terminal residuei1438 – 14381Imported

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC000061 Genomic DNA. No translation available.
    AC000111 Genomic DNA. No translation available.
    AC004240 Genomic DNA. No translation available.
    KF458571 Genomic DNA. No translation available.
    KF458577 Genomic DNA. No translation available.

    Genome annotation databases

    EnsembliENST00000426809; ENSP00000389119; ENSG00000001626.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC000061 Genomic DNA. No translation available.
    AC000111 Genomic DNA. No translation available.
    AC004240 Genomic DNA. No translation available.
    KF458571 Genomic DNA. No translation available.
    KF458577 Genomic DNA. No translation available.

    3D structure databases

    ProteinModelPortali E7EPB6.
    SMRi E7EPB6. Positions 328-641, 1122-1414.
    ModBasei Search...
    MobiDBi Search...

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000426809 ; ENSP00000389119 ; ENSG00000001626 .

    Organism-specific databases

    HGNCi HGNC:1884. CFTR.
    GenAtlasi Search...

    Miscellaneous databases

    NextBioi 35499721.

    Gene expression databases

    ArrayExpressi E7EPB6.
    Bgeei E7EPB6.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR005291. cAMP_cl_channel.
    IPR025837. CFTR_reg_dom.
    IPR009147. CysFib_conduc_TM.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF00664. ABC_membrane. 2 hits.
    PF00005. ABC_tran. 2 hits.
    PF14396. CFTR_R. 1 hit.
    [Graphical view ]
    PRINTSi PR01851. CYSFIBREGLTR.
    SMARTi SM00382. AAA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    SSF90123. SSF90123. 2 hits.
    TIGRFAMsi TIGR01271. CFTR_protein. 1 hit.
    PROSITEi PS50929. ABC_TM1F. 2 hits.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    3. Ensembl
      Submitted (JUL-2011) to UniProtKB
      Cited for: IDENTIFICATION.

    Entry informationi

    Entry nameiE7EPB6_HUMAN
    AccessioniPrimary (citable) accession number: E7EPB6
    Entry historyi
    Integrated into UniProtKB/TrEMBL: March 8, 2011
    Last sequence update: March 8, 2011
    Last modified: October 1, 2014
    This is version 29 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiUnreviewed (UniProtKB/TrEMBL)
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Caution

    The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.Imported

    Keywords - Technical termi

    Complete proteome, Reference proteomeImported

    External Data

    Dasty 3