KRT86

KRT86
Ідентифікатори
Символи KRT86, HB6, Hb1, KRTHB1, KRTHB6, MNX, hHb6, K86, keratin 86
Зовнішні ІД OMIM: 601928 MGI: 109362 HomoloGene: 1717 GeneCards: KRT86
Пов'язані генетичні захворювання
monilethrix[1]
Ортологи
Види Людина Миша
Entrez
3892
16679
Ensembl
ENSG00000170442
ENSMUSG00000067614
UniProt
O43790
P97861
RefSeq (мРНК)
NM_002284
NM_001320198
NM_010667
RefSeq (білок)
NP_001307127
NP_034797
Локус (UCSC) Хр. 12: 52.25 – 52.31 Mb Хр. 15: 101.37 – 101.38 Mb
PubMed search [2] [3]
Вікідані
Див./Ред. для людейДив./Ред. для мишей

KRT86 (англ. Keratin 86) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 12-ї хромосоми.[4] Довжина поліпептидного ланцюга білка становить 486 амінокислот, а молекулярна маса — 53 501[5].

Послідовність амінокислот
1020304050
MTCGSYCGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSV
CGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQ
CVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSN
LEPLFEGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVSL
RATAENEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLRRLYEEEIRVL
QSHISDTSVVVKLDNSRDLNMDCIIAEIKAQYDDIVTRSRAEAESWYRSK
CEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAV
AQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLD
IEIATYRRLLEGEEQRLCEGVGSVNVCVSSSRGGVVCGDLCASTTAPVVS
TRVSSVPSNSNVVVGTTNACAPSARVGVCGGSCKRC

Локалізований у проміжних філаментах.

Література

  • The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004.  PMID 15489334 DOI:10.1101/gr.2596504
  • Winter H., Clark R.D., Tarras-Wahlberg C., Rogers M.A., Schweizer J. (1999). Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6. J. Invest. Dermatol. 113: 263—266.  PMID 10469314 DOI:10.1046/j.1523-1747.1999.00685.x
  • Pearce E.G., Smith S.K., Lanigan S.W., Bowden P.E. (1999). Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. J. Invest. Dermatol. 113: 1123—1127.  PMID 10594761 DOI:10.1046/j.1523-1747.1999.00777.x

Примітки

  1. ↑ Захворювання, генетично пов'язані з KRT86 переглянути/редагувати посилання на ВікіДаних. 
  2. ↑ Human PubMed Reference:. 
  3. ↑ Mouse PubMed Reference:. 
  4. ↑ HUGO Gene Nomenclature Commitee, HGNC:6463 (англ.) . Процитовано 11 вересня 2017. {{cite web}}: Обслуговування CS1: Сторінки з параметром url-status, але без параметра archive-url (посилання)
  5. ↑ UniProt, O43790 (англ.) . Архів оригіналу за 14 березня 2017. Процитовано 11 вересня 2017. 

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