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Q99989

- Q99989_HUMAN

UniProt

Q99989 - Q99989_HUMAN

Protein

Cystic fibrosis transmembrane conductance regulator

Gene

CFTR

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 4 out of 5- Protein inferred from homologyi
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      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. bicarbonate transmembrane transporter activity Source: Ensembl
    3. channel-conductance-controlling ATPase activity Source: UniProtKB-EC

    GO - Biological processi

    1. cellular response to cAMP Source: Ensembl
    2. cellular response to hormone stimulus Source: Ensembl
    3. cholesterol biosynthetic process Source: Ensembl
    4. cholesterol transport Source: Ensembl
    5. intracellular pH elevation Source: Ensembl
    6. iodide transport Source: Ensembl
    7. lung development Source: Ensembl
    8. membrane hyperpolarization Source: Ensembl
    9. positive regulation of vasodilation Source: Ensembl
    10. response to cytokine Source: Ensembl
    11. response to drug Source: Ensembl
    12. response to estrogen Source: Ensembl
    13. response to peptide hormone Source: Ensembl
    14. sperm capacitation Source: Ensembl
    15. transepithelial chloride transport Source: Ensembl
    16. vasodilation Source: Ensembl
    17. water transport Source: Ensembl

    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

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. basolateral plasma membrane Source: Ensembl
    3. cytoplasmic vesicle membrane Source: Ensembl
    4. integral component of membrane Source: InterPro
    5. microvillus Source: Ensembl

    Expressioni

    Gene expression databases

    ArrayExpressiQ99989.
    BgeeiQ99989.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99989.
    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

    Phylogenomic databases

    HOVERGENiHBG004169.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    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. 1 hit.
    PF14396. CFTR_R. 1 hit.
    [Graphical view]
    PRINTSiPR01851. CYSFIBREGLTR.
    SMARTiSM00382. AAA. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 3 hits.
    TIGRFAMsiTIGR01271. CFTR_protein. 1 hit.
    PROSITEiPS50929. ABC_TM1F. 2 hits.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Fragment.

    Q99989-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS    50
    EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL 100
    LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM 150
    QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF 200
    VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ 250
    RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA 300
    YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV 350
    TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF 400
    WEEGFGELFE KAKQNNNNRK TSNGDDSLFF SNFSLLGTPV LKDINFKIER 450
    GQLLAVAGST GAGKTSLLMV IMGELEPSEG KIKHSGRISF CSQFSWIMPG 500
    TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV LGEGGITLSG 550
    GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR 600
    ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF 650
    DQFSAERRNS ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS 700
    ILNPINSIRK FSIVQKTPLQ MNGIEEDSDE PLERRLSLVP DSEQGEAILP 750
    RISVISTGPT LQARRRQSVL NLMTHSVNQG QNIHRKTTAS TRKVSLAPQA 800
    NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI PAVTTWNTYL 850
    RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN 900
    NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH 950
    KMLHSVLQAP MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQ 996
    Length:996
    Mass (Da):113,335
    Last modified:May 1, 1997 - v1
    Checksum:i0F85321034CA8DBF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Non-terminal residuei996 – 9961Imported

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC000111 Genomic DNA. Translation: AAB46352.1.
    UniGeneiHs.489786.
    Hs.621460.
    Hs.661104.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC000111 Genomic DNA. Translation: AAB46352.1 .
    UniGenei Hs.489786.
    Hs.621460.
    Hs.661104.

    3D structure databases

    ProteinModelPortali Q99989.
    ModBasei Search...
    MobiDBi Search...

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Phylogenomic databases

    HOVERGENi HBG004169.

    Gene expression databases

    ArrayExpressi Q99989.
    Bgeei Q99989.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    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. 1 hit.
    PF14396. CFTR_R. 1 hit.
    [Graphical view ]
    PRINTSi PR01851. CYSFIBREGLTR.
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 3 hits.
    TIGRFAMsi TIGR01271. CFTR_protein. 1 hit.
    PROSITEi PS50929. ABC_TM1F. 2 hits.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Waterston R.
      Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE.
    2. "The sequence of Homo sapiens BAC clone CTB-68P20."
      Scheet P., Maggi L., Blandford M.
      Submitted (FEB-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE.
    3. "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.
    4. Wilson R.
      Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE.

    Entry informationi

    Entry nameiQ99989_HUMAN
    AccessioniPrimary (citable) accession number: Q99989
    Entry historyi
    Integrated into UniProtKB/TrEMBL: May 1, 1997
    Last sequence update: May 1, 1997
    Last modified: October 1, 2014
    This is version 101 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.