P26361

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession CFTR_MOUSE; P26361;
Entrez ID 12638
GenBank Protein ID NM_021050.2; XM_006504977.1; XM_006504978.1;
GenBank Nucleotide ID NP_066388.1; XP_006505040.1; XP_006505041.1;
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 Mus musculus
NCBI Taxa ID 10090
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:20231442, PubMed:22265409). Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7. Can inhibit the chloride channel activity of ANO1 (By similarity). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:21976599).
Sequence
(Fasta)
MQKSPLEKAS FISKLFFSWT TPILRKGYRH HLELSDIYQA PSADSADHLS EKLEREWDRE 60
QASKKNPQLI HALRRCFFWR FLFYGILLYL GEVTKAVQPV LLGRIIASYD PENKVERSIA 120
IYLGIGLCLL FIVRTLLLHP AIFGLHRIGM QMRTAMFSLI YKKTLKLSSR VLDKISIGQL 180
VSLLSNNLNK FDEGLALAHF IWIAPLQVTL LMGLLWDLLQ FSAFCGLGLL IILVIFQAIL 240
GKMMVKYRDQ RAAKINERLV ITSEIIDNIY SVKAYCWESA MEKMIENLRE VELKMTRKAA 300
YMRFFTSSAF FFSGFFVVFL SVLPYTVING IVLRKIFTTI SFCIVLRMSV TRQFPTAVQI 360
WYDSFGMIRK IQDFLQKQEY KVLEYNLMTT GIIMENVTAF WEEGFGELLE KVQQSNGDRK 420
HSSDENNVSF SHLCLVGNPV LKNINLNIEK GEMLAITGST GSGKTSLLML ILGELEASEG 480
IIKHSGRVSF CSQFSWIMPG TIKENIIFGV SYDEYRYKSV VKACQLQQDI TKFAEQDNTV 540
LGEGGVTLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV FTEEQVFESC VCKLMANKTR 600
ILVTSKMEHL RKADKILILH QGSSYFYGTF SELQSLRPDF SSKLMGYDTF DQFTEERRSS 660
ILTETLRRFS VDDSSAPWSK PKQSFRQTGE VGEKRKNSIL NSFSSVRKIS IVQKTPLCID 720
GESDDLQEKR LSLVPDSEQG EAALPRSNMI ATGPTFPGRR RQSVLDLMTF TPNSGSSNLQ 780
RTRTSIRKIS LVPQISLNEV DVYSRRLSQD STLNITEEIN EEDLKECFLD DVIKIPPVTT 840
WNTYLRYFTL HKGLLLVLIW CVLVFLVEVA ASLFVLWLLK NNPVNSGNNG TKISNSSYVV 900
IITSTSFYYI FYIYVGVADT LLALSLFRGL PLVHTLITAS KILHRKMLHS ILHAPMSTIS 960
KLKAGGILNR FSKDIAILDD FLPLTIFDFI QLVFIVIGAI IVVSALQPYI FLATVPGLVV 1020
FILLRAYFLH TAQQLKQLES EGRSPIFTHL VTSLKGLWTL RAFRRQTYFE TLFHKALNLH 1080
TANWFMYLAT LRWFQMRIDM IFVLFFIVVT FISILTTGEG EGTAGIILTL AMNIMSTLQW 1140
AVNSSIDTDS LMRSVSRVFK FIDIQTEESM YTQIIKELPR EGSSDVLVIK NEHVKKSDIW 1200
PSGGEMVVKD LTVKYMDDGN AVLENISFSI SPGQRVGLLG RTGSGKSTLL SAFLRMLNIK 1260
GDIEIDGVSW NSVTLQEWRK AFGVITQKVF IFSGTFRQNL DPNGKWKDEE IWKVADEVGL 1320
KSVIEQFPGQ LNFTLVDGGY VLSHGHKQLM CLARSVLSKA KIILLDEPSA HLDPITYQVI 1380
RRVLKQAFAG CTVILCEHRI EAMLDCQRFL VIEESNVWQY DSLQALLSEK SIFQQAISSS 1440
EKMRFFQGRH SSKHKPRTQI TALKEETEEE VQETRL 1477

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1PhosphorylationCystic fibrosisP1279436
[Reference]: Site-specific mutation and membrane reconstitution experiments provide compelling evidence that the product of the gene which is at fault in the disease cystic fibrosis, termed the cystic fibrosis transmembrane conductance regulator (CFTR), is a small-conductance chloride channel activated by phosphorylation.

※ 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

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 16)
(view all)
1183      KELPREGSSDVLVIK     dbPAF
1467      ITALKEETEEEVQET     dbPAF
422       SNGDRKHSSDENNVS     dbPAF
659       QFTEERRSSILTETL     dbPAF
660       FTEERRSSILTETLR     dbPAF
670       TETLRRFSVDDSSAP     dbPAF

※ Protein-Protein Interaction

NetworkInteraction
ABSource