CHRNE

CHRNE
Наявні структури
PDBПошук ортологів: PDBe RCSB
Ідентифікатори
Символи CHRNE, ACHRE, CMS1D, CMS1E, CMS2A, FCCMS, SCCMS, CMS4A, CMS4B, CMS4C, cholinergic receptor nicotinic epsilon subunit
Зовнішні ІД OMIM: 100725 MGI: 87894 HomoloGene: 60 GeneCards: CHRNE
Пов'язані генетичні захворювання
congenital myasthenic syndrome 4A, congenital myasthenic syndrome 4B, congenital myasthenic syndrome 4C, congenital myasthenic syndrome[1]
Реагує на сполуку
succinylcholine chloride, atracurium besylate, rocuronium, метокуріна йодид, pipecuronium, cisatracurium besylate, triethylgallamine, atracurium, pancuronium bromide, rocuronium bromide, vecuronium bromide[2]
Шаблон експресії
Більше даних
Ортологи
Види Людина Миша
Entrez
Ensembl
UniProt
RefSeq (мРНК)
NM_000080
NM_009603
RefSeq (білок)
NP_000071
NP_033733
Локус (UCSC) Хр. 17: 4.9 – 4.93 Mb Хр. 11: 70.51 – 70.51 Mb
PubMed search [3] [4]
Вікідані
Див./Ред. для людейДив./Ред. для мишей

CHRNE (англ. Cholinergic receptor nicotinic epsilon subunit) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 17-ї хромосоми.[5] Довжина поліпептидного ланцюга білка становить 493 амінокислот, а молекулярна маса — 54 697[6].

Послідовність амінокислот
1020304050
MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVT
ISLKVTLTNLISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRV
PSELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLPPAIYRSVCAV
EVTYFPFDWQNCSLIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYT
ENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKPLFYVINIIVP
CVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLS
VPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELL
PRLLGSPPPPEAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRH
RQGTWTAAFCQSLGAAAPEVRCCVDAVNFVAESTRDQEATGEEVSDWVRM
GNALDNICFWAALVLFSVGSSLIFLGAYFNRVPDLPYAPCIQP

Кодований геном білок за функціями належить до рецепторів, іонних каналів. Задіяний у таких біологічних процесах, як транспорт іонів, транспорт. Локалізований у клітинній мембрані, мембрані, клітинних контактах, синапсах.

Література

  • Gomez C.M., Gammack J.T. (1995). A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. Neurology. 45: 982—985.  PMID 7538206 DOI:10.1212/WNL.45.5.982
  • Shen X.M., Brengman J.M., Edvardson S., Sine S.M., Engel A.G. (2012). Highly fatal fast-channel syndrome caused by AChR epsilon subunit mutation at the agonist binding site. Neurology. 79: 449—454.  PMID 22592360 DOI:10.1212/WNL.0b013e31825b5bda

Примітки

Див. також

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