P13569

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession CFTR_HUMAN; P13569;
Entrez ID 1080
GenBank Protein ID
GenBank Nucleotide ID
Protein Name Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 3.6.3.49) (cAMP-dependent chloride channel)
Gene Name CFTR; ABCC7
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionEpithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to (view all)
Sequence
(Fasta)
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 1481

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1N-linked glycosylationCystic fibrosisCN90811443282
[Reference]: This substitution (T908N) creates a consensus sequence (N X S/T) for addition of an N-linked oligosaccharide chain near the C-terminal end of EL4.
2Serine PhosphorylationCystic fibrosisNS104527261451
[Reference]: In this study, we determined that S1045Y-CFTR exhibits twofold attenuated function compared with wild-type (WT)-CFTR. We report that serine-to-tyrosine mutation leads to increased tyrosine phosphorylation of S1045Y-CFTR, followed by recruitment and binding of E3-ubiquitin ligase c-cbl, resulting in enhanced ubiquitination and passage of S1045Y-CFTR in the endosome/lysosome degradative compartments.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 15)
(view all)
MESH:D053713 ; Azoospermia
MESH:C567618 ; Bronchiectasis With Or Without Elevated Sweat Chloride 1
MESH:D015529 ; Choledochal Cyst
MESH:D015179 ; Colorectal Neoplasms
MESH:C535984 ; Congenital bilateral aplasia of vas deferens
MESH:D003550 ; Cystic Fibrosis
DisGeNet (Curated)
(count: 51)
(view all)
C0001973; Alcoholic Intoxication, Chronic
C0004096; Asthma
C0004509; Azoospermia
C0006267; Bronchiectasis
C0008312; Primary biliary cirrhosis
C0008340; Choledochal Cyst
HGMD
(count: 1469)
(view all)
CE054638; Typhoid fever, prot. against, association with; Repeat variations
CE952227; Congenital absence of vas deferens, association; Repeat variations
CE086595; Infertility ; Repeat variations
CE032535; Bronchiectasis, idiopathic, association with; Repeat variations
CE050520; Congenital absence of vas deferens; Repeat variations
CE984225; Phenotype modifier, association with; Repeat variations
GWASdb
(count: 30)
(view all)
rs4148682; Suicide attempts in bipolar disorder; bipolar disorder
rs2283054; Suicide attempts in bipolar disorder; bipolar disorder
rs2237721; Suicide attempts in bipolar disorder; bipolar disorder
rs4148686; ECG dimensions, brachial artery endothelial function, treadmill exercise responses; cardiovascular system disease
rs4148688; Statin-induced myopathy; muscular disease
rs4148698; Suicide attempts in bipolar disorder; bipolar disorder

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 39)
(view all)
1014      VVAVLQPYIFVATVP     dbPAF
1019      QPYIFVATVPVIVAF     dbPAF
1176      MPTEGKPTKSTKPYK     dbPAF
1362      CLARSVLSKAKILLL     dbPAF
1424      EENKVRQYDSIQKLL     dbPAF
1444      FRQAISPSDRVKLFP     dbPAF
Ubiquitination
(count: 1)
688       ETKKQSFKQTGEFGE     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource
A8K7I4P13569IntAct
H0YG33P13569IntAct
O14745P13569HPRD; DIP; IntAct; MINT
O14939P13569IntAct
O14980P13569IntAct
O15269P13569IntAct
O43852P13569IntAct
O60884P13569IntAct
O75340P13569IntAct
O76024P13569IntAct
O94966P13569MINT
O95049P13569IntAct
O95219P13569IntAct
O95373P13569IntAct
O95425P13569IntAct
O95433P13569IntAct
O95831P13569IntAct
P02545P13569IntAct
P02652P13569IntAct
P04080P13569IntAct
P04632P13569IntAct
P04792P13569IntAct
P04899P13569IntAct
P06702P13569IntAct
P06753P13569IntAct
P07602P13569IntAct
P08238P13569IntAct
P09496P13569IntAct
P0CG47P13569IntAct
P10809P13569IntAct
P11021P13569IntAct
P11142P13569MINT
P11274P13569IntAct
P12830P13569IntAct
P13569P13569HPRD; MINT
P13569P13861HPRD
P13569P13987IntAct
P13569P14317IntAct
P13569P15311HPRD
P13569P16422IntAct
P13569P16615IntAct
P13569P17252HPRD
P13569P17612HPRD
P13569P17931IntAct
P13569P22061IntAct
P13569P25685IntAct
P13569P27824HPRD; IntAct; MINT
P13569P28799IntAct
P13569P29992IntAct
P13569P30153IntAct; MINT
P13569P30154HPRD
P13569P31151IntAct
P13569P31689HPRD; IntAct
P13569P31948DIP
P13569P34925IntAct
P13569P34931IntAct
P13569P38646IntAct
P13569P40145IntAct
P13569P48741IntAct
P13569P50402IntAct
P13569P51572IntAct
P13569P51790MINT
P13569P53618IntAct
P13569P53675IntAct
P13569P54652IntAct
P13569P55060IntAct
P13569P55072IntAct
P13569P56470IntAct
P13569P61619IntAct
P13569P62805BioGRID
P13569P63244IntAct
P13569P78527IntAct
P13569P98082IntAct
P13569Q02156HPRD
P13569Q02817IntAct
P13569Q05086IntAct
P13569Q07157IntAct
P13569Q10567IntAct
P13569Q12929IntAct
P13569Q13009IntAct
P13569Q13131HPRD
P13569Q13200IntAct
P13569Q13976HPRD
P13569Q14254IntAct
P13569Q14257IntAct
P13569Q14444IntAct
P13569Q14517IntAct
P13569Q14669IntAct
P13569Q14677IntAct
P13569Q14974IntAct
P13569Q15293IntAct
P13569Q15369IntAct
P13569Q15370IntAct
P13569Q15599HPRD; IntAct; MINT
P13569Q16623HPRD
P13569Q2Y0W8HPRD
P13569Q5SW79IntAct
P13569Q5T2W1HPRD; IntAct; MINT
P13569Q6UX72IntAct
P13569Q86UT5HPRD
P13569Q8WUY1IntAct
P13569Q8WWI1IntAct
P13569Q8WWM7IntAct
P13569Q92581HPRD
P13569Q92673IntAct
P13569Q92734IntAct
P13569Q92736IntAct
P13569Q93084IntAct
P13569Q96D71IntAct
P13569Q99942HPRD; IntAct
P13569Q9BTV4IntAct
P13569Q9BUN8HPRD; IntAct
P13569Q9BWM7IntAct
P13569Q9H3R2IntAct
P13569Q9H3V2IntAct
P13569Q9H3Z4HPRD
P13569Q9H8Y8IntAct
P13569Q9H9S3IntAct
P13569Q9HBW0IntAct
P13569Q9HD26HPRD; IntAct; MINT
P13569Q9NQH7IntAct
P13569Q9NUP9IntAct
P13569Q9NVI7IntAct
P13569Q9NYL9IntAct
P13569Q9NZB2IntAct
P13569Q9NZN1IntAct
P13569Q9UBA6IntAct
P13569Q9UBY0IntAct
P13569Q9UHB6IntAct
P13569Q9UJC5IntAct
P13569Q9UL46IntAct
P13569Q9UN37IntAct
P13569Q9UQ84IntAct
P13569Q9Y2H5IntAct
P13569Q9Y5X1IntAct
P13569Q9Y608IntAct
P13569Q9Y6I7IntAct
P13569Q9Y6M7HPRD
P13569Q9Y6N5IntAct