CFTR

CFTR
Egitura erabilgarria PDB Ortologoaren bilaketa: PDBe RCSB PDB ID kodeen zerrenda 1XMI, 1XMJ, 2BBO, 2BBS, 2BBT, 2LOB, 2PZE, 2PZF, 2PZG, 3GD7, 3ISW, 4WZ6, 5D2D, 5D3E, 5D3F
Identifikatzaileak
Aliasak	CFTR (HUGO), ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-dJ760C5.1, cystic fibrosis transmembrane conductance regulator, CF transmembrane conductance regulator
Kanpoko IDak	OMIM: 602421   MGI: 88388   HomoloGene: 55465   GeneCards: CFTR   OMA: CFTR - orthologs
EC Zenbakia	5.6.1.6
Genetikoki lotutako gaixotasunak
Fibrosi kistiko, congenital bilateral aplasia of the vas deferens  [1]
Drogaren xedea
apigenin , Kapsaizina, felodipine , genistein , ivacaftor , Nimodipino, Glibenklamida [2]
Genearen kokapena (gizakia) Kromosoma: 7 (gizakia)[3] Banda 7q31.2 Hasiera 117.287.120 bp[3] Amaiera 117.715.971 bp[3]
Genearen kokapena (sagua) Kromosoma: 6 (sagua)[4] Banda 6 A2|6 8.1 cM Hasiera 18.170.686 bp[4] Amaiera 18.322.767 bp[4]
RNA adierazpen eredua Bgee gizakia sagua (ortholog) Adierazpen ohikoena body of pancreas  Behazun xixku ondeste mucosa of sigmoid colon  Langerhansen irla Duodeno mucosa of transverse colon  jejunal mucosa  C1 segment  minor salivary glands  Adierazpen ohikoena Paneth cell  epithelium of small intestine  Ileal epithelium  Duodeno left colon  crypt of lieberkuhn of small intestine  jejuno left lung lobe  migratory enteric neural crest cell  espermatida  Erreferentziazko adierazpen datu gehiago BioGPS
Gene ontologia Funtzio molekularra nucleotide binding  PDZ domain binding  chloride transmembrane transporter activity  proteina lotura  chloride channel inhibitor activity  enzyme binding  hydrolase activity  ATP binding  chloride channel activity  ATPase-coupled inorganic anion transmembrane transporter activity  chloride channel regulator activity  ATPase-coupled transmembrane transporter activity  intracellularly ATP-gated chloride channel activity  ATPase activity  bicarbonate transmembrane transporter activity  chaperone binding  Sec61 translocon complex binding  isomerase activity  Zelularen osagaia zitoplasma  recycling endosome  endosoma  early endosome membrane  mintza  zelula mintz  chloride channel complex  cell surface  lysosomal membrane  early endosome  Golgi-associated vesicle membrane  endoplasmic reticulum Sec complex  extracellular exosome  zitosol  endosome membrane  clathrin-coated vesicle membrane  zelula-mintzaren osagai integrala  apical plasma membrane  Erretikulu endoplasmatiko  endoplasmic reticulum membrane  recycling endosome membrane  plasma-mintzaren osagai integrala  zelula nukleo  protein-containing complex  Prozesu biologikoa positive regulation of cyclic nucleotide-gated ion channel activity  intracellular pH elevation  membrane hyperpolarization  positive regulation of voltage-gated chloride channel activity  cholesterol transport  ioi garraioa  vesicle docking involved in exocytosis  mintzan zeharreko garraioa  sperm capacitation  positive regulation of insulin secretion involved in cellular response to glucose stimulus  cholesterol biosynthetic process  positive regulation of exocytosis  chloride transport  cellular response to cAMP  protein deubiquitination  membrane organization  chloride transmembrane transport  transepithelial water transport  multicellular organismal water homeostasis  cellular response to forskolin  bicarbonate transport  garraio  response to endoplasmic reticulum stress  Iturburuak: Amigo / QuickGO
Ortologoak Espeziea Gizakia Sagua Entrez 1080 12638 Ensembl ENSG00000001626 ENSMUSG00000041301 UniProt P13569 P26361 RefSeq (RNAm) NM_000492 NM_021050 RefSeq (proteina) NP_000483 NP_066388 Kokapena (UCSC) Chr 7: 117.29 – 117.72 Mb Chr 6: 18.17 – 18.32 Mb PubMed bilaketa [5] [6]
Wikidata
Ikusi/Editatu giza genea Ikusi/Editatu saguaren genea

CFTR, Cystic fibrosis transmembrane conductance regulator, 1480 aminoazido dituen proteina da. Jariatze exokrinoa duten animalia-ehunen mintz zelularretan aurkitzen da, izerdi-guruin, are, heste eta giltzurrunetan esate baterako. ABC motako garraiatzailea da eta bere funtzio nagusia kloro ioien garraio aktiboa erraztea da, mintz zelularraren kanpoalderantz. Fibrosi kistikoa edo mukobiszidosia izeneko gaixotasun genetikoan CFTR proteina kodetzen duen geneak mutazio bat jasaten du, zeinak kloro eta sodio kontzentrazioen desregulazioa eragiten duen gorputzeko jariakinetan.^[7] Beste mutazio batengatik eragindako beste gaixotasun bat, hain ezaguna ez dena, hodi deferenteen aldebiko absentzia kognitiboa da, azoospermia eta antzutasuna eragiten duena gizonetan.^[8]

1. ↑ Genetikoki lotutako gaixotasunak CFTRikusi/editatu erreferentziak Wikidatan. .
2. ↑ Fisikoki elkarreragiten duten drogak CFTRikusi/editatu erreferentziak Wikidatan. .
3. ↑ ^{a b c} GRCh38: Ensembl release 89: ENSG00000001626 - Ensembl, May 2017
4. ↑ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000041301 – Ensembl, May 2017
5. ↑ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
6. ↑ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
7. ↑ (Ingelesez) «CFTR gene: MedlinePlus Genetics» medlineplus.gov (Noiz kontsultatua: 2023-04-26).
8. ↑ (Gaztelaniaz) RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. «Orphanet: Ausencia congénita bilateral de los conductos deferentes» www.orpha.net (Noiz kontsultatua: 2023-04-26).