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Q99989

- Q99989_HUMAN

UniProt

Q99989 - Q99989_HUMAN

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Protein

Cystic fibrosis transmembrane conductance regulator

Gene

CFTR

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 4 out of 5- Protein inferred from homologyi

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
Complete GO annotation...

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
Complete GO annotation...

Expressioni

Gene expression databases

BgeeiQ99989.
ExpressionAtlasiQ99989. baseline and differential.

Interactioni

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

        10         20         30         40         50
MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS
60 70 80 90 100
EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL
110 120 130 140 150
LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM
160 170 180 190 200
QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF
210 220 230 240 250
VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ
260 270 280 290 300
RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
310 320 330 340 350
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV
360 370 380 390 400
TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF
410 420 430 440 450
WEEGFGELFE KAKQNNNNRK TSNGDDSLFF SNFSLLGTPV LKDINFKIER
460 470 480 490 500
GQLLAVAGST GAGKTSLLMV IMGELEPSEG KIKHSGRISF CSQFSWIMPG
510 520 530 540 550
TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV LGEGGITLSG
560 570 580 590 600
GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR
610 620 630 640 650
ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF
660 670 680 690 700
DQFSAERRNS ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS
710 720 730 740 750
ILNPINSIRK FSIVQKTPLQ MNGIEEDSDE PLERRLSLVP DSEQGEAILP
760 770 780 790 800
RISVISTGPT LQARRRQSVL NLMTHSVNQG QNIHRKTTAS TRKVSLAPQA
810 820 830 840 850
NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI PAVTTWNTYL
860 870 880 890 900
RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN
910 920 930 940 950
NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH
960 970 980 990
KMLHSVLQAP MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQ
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:
EMBLi
GenBanki
DDBJi
Links Updated
AC000111 Genomic DNA. Translation: AAB46352.1.
UniGeneiHs.489786.
Hs.621460.
Hs.661104.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC000111 Genomic DNA. Translation: AAB46352.1 .
UniGenei Hs.489786.
Hs.621460.
Hs.661104.

3D structure databases

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

Chemistry

BindingDBi Q99989.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Phylogenomic databases

HOVERGENi HBG004169.

Gene expression databases

Bgeei Q99989.
ExpressionAtlasi Q99989. baseline and differential.

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: November 26, 2014
This is version 103 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.