Idi na sadržaj

SLC4A1

S Wikipedije, slobodne enciklopedije
SLC4A1
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

1BH7, 1BNX, 1BTQ, 1BTR, 1BTS, 1BTT, 1BZK, 1HYN, 3BTB, 2BTA, 2BTB, 4KY9, 4YZF

Identifikatori
AliasiSLC4A1
Vanjski ID-jeviOMIM: 109270 MGI: 109393 HomoloGene: 133556 GeneCards: SLC4A1
Lokacija gena (čovjek)
Hromosom 17 (čovjek)
Hrom.Hromosom 17 (čovjek)[1]
Hromosom 17 (čovjek)
Genomska lokacija za SLC4A1
Genomska lokacija za SLC4A1
Bend17q21.31Početak44,248,390 bp[1]
Kraj44,268,141 bp[1]
Lokacija gena (miš)
Hromosom 11 (miš)
Hrom.Hromosom 11 (miš)[2]
Hromosom 11 (miš)
Genomska lokacija za SLC4A1
Genomska lokacija za SLC4A1
Bend11 66.29 cM|11 DPočetak102,239,650 bp[2]
Kraj102,257,029 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija protein homodimerization activity
protein-membrane adaptor activity
chloride transmembrane transporter activity
transporter activity
anion transmembrane transporter activity
bicarbonate transmembrane transporter activity
GO:0001948, GO:0016582 vezivanje za proteine
ankyrin binding
inorganic anion exchanger activity
sodium:bicarbonate symporter activity
hemoglobin binding
Ćelijska komponenta integral component of membrane
blood microparticle
membrana
cortical cytoskeleton
ćelijska membrana
integral component of plasma membrane
basolateral plasma membrane
Egzosom
Z discdkac
cytoplasmic side of plasma membrane
Biološki proces anion transport
bicarbonate transport
cellular ion homeostasis
chloride transport
ion transport
regulation of intracellular pH
anion transmembrane transport
chloride transmembrane transport
sodium ion transmembrane transport
GO:0015915 transport
Glikoliza
Koagulacija (krv)
plasma membrane phospholipid scrambling
negative regulation of urine volume
pH elevation
erythrocyte development
protein localization to plasma membrane
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_000342

NM_011403

RefSeq (bjelančevina)

NP_000333

NP_035533

Lokacija (UCSC)Chr 17: 44.25 – 44.27 MbChr 11: 102.24 – 102.26 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Kir2.1 usmjerivač kalijevog ionskog kanala prema unutra je lipidno usidreni kanal kodiran genom KCNJ2.[5][6][7][8]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 427 aminokiselina, a molekulska težina 48.288 Da.[9].

Simboli
1020304050
MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKK
DGHCNVQFINVGEKGQRYLADIFTTCVDIRWRWMLVIFCLAFVLSWLFFG
CVFWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCV
TDECPIAVFMVVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAV
IAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEGEYIPLDQIDI
NVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEG
MVEATAMTTQCRSSYLANEILWGHRYEPVLFEEKHYYKVDYSRFHKTYEV
PNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTST
DTPPDIDLHNQASVPLEPRPLRRESEI

Klinički značaj

[uredi | uredi izvor]

Mutacija ovog gena povezana je sa Andersen–Tawilovim sindromom.[10]

Pokazalo se da i mutacija u genu KCNJ2 uzrokuje sindrom kratkog QT.[11]

Istraživanje

[uredi | uredi izvor]

U neurogenetici, Kir2.1 se koristi u istraživanju roda Drosophila, za inhibiranje neurona, jer prekomjerna ekspresija ovog kanala hiperpolarizira ćelije.

U optogenetici, sekvenca prometa Kir2.1 dodana je u halorodopsin radi poboljšanja njegove lokalizacije membrane. Dobijeni protein eNpHR3.0 koristi se u optogenetičkim istraživanjima za inhibiciju neurona svjetlošću.[12]

Ekspresija gena Kir2.1 u ljudskim ćelijama HEK293 inducira privremenu vanjsku struju, stvarajući postojani membranski potencijal, blizu potencijala preokreta kalija.[13]

Interakcije

[uredi | uredi izvor]

Pokazano je da Kir2.1 komunicira sa:

Reference

[uredi | uredi izvor]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000004939 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006574 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hansen, SB (maj 2015). "Lipid agonism: The PIP2 paradigm of ligand-gated ion channels". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1851 (5): 620–8. doi:10.1016/j.bbalip.2015.01.011. PMC 4540326. PMID 25633344.
  6. ^ Raab-Graham KF, Radeke CM, Vandenberg CA (1994). "Molecular cloning and expression of a human heart inward rectifier potassium channel". NeuroReport. 5 (18): 2501–5. doi:10.1097/00001756-199412000-00024. PMID 7696590.
  7. ^ Derst C, Karschin C, Wischmeyer E, Hirsch JR, Preisig-Müller R, Rajan S, Engel H, Grzeschik K, Daut J, Karschin A (2001). "Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits". FEBS Lett. 491 (3): 305–11. doi:10.1016/S0014-5793(01)02202-5. PMID 11240146. S2CID 14452157.
  8. ^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol. Rev. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. S2CID 11588492.
  9. ^ "UniProt, P63252". Pristupljeno June 24, 2021.
  10. ^ Donaldson MR, Yoon G, Fu YH, Ptacek LJ (2004). "Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity". Ann. Med. 36 Suppl 1: 92–7. doi:10.1080/17431380410032490. PMID 15176430. S2CID 7362563.
  11. ^ Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, di Barletta MR, Gudapakkam S, Bosi G, Stramba-Badiale M, Jalife J (april 2005). "A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene". Circ. Res. 96 (7): 800–7. doi:10.1161/01.RES.0000162101.76263.8c. PMID 15761194.
  12. ^ Gradinaru V, Zhang F, Ramakrishnan C, Mattis J, Prakash R, Diester I, Goshen I, Thompson KR, Deisseroth K (april 2010). "Molecular and cellular approaches for diversifying and extending optogenetics". Cell. 141 (1): 154–65. doi:10.1016/j.cell.2010.02.037. PMC 4160532. PMID 20303157.
  13. ^ Zhang, De-Yong; Lau, Chu-Pak; Li, Gui-Rong (1. 4. 2009). "Human Kir2.1 channel carries a transient outward potassium current with inward rectification". Pflügers Archiv: European Journal of Physiology. 457 (6): 1275–1285. doi:10.1007/s00424-008-0608-0. ISSN 1432-2013. PMID 19002489. S2CID 3120804.
  14. ^ Nehring RB, Wischmeyer E, Döring F, Veh RW, Sheng M, Karschin A (2000). "Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family". J. Neurosci. 20 (1): 156–62. doi:10.1523/JNEUROSCI.20-01-00156.2000. PMC 6774109. PMID 10627592.
  15. ^ Kurschner C, Yuzaki M (1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". J. Neurosci. 19 (18): 7770–80. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMC 6782450. PMID 10479680.
  16. ^ Grishin A, Li H, Levitan ES, Zaks-Makhina E (2006). "Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1". J. Biol. Chem. 281 (40): 30104–11. doi:10.1074/jbc.M602439200. PMID 16895905.

Dopunska literatura

[uredi | uredi izvor]

Vanjski linkovi

[uredi | uredi izvor]

Šablon:Ionski kanali g3