Protein 1 sa NHL-ponavljanjem jest protein koji je kod ljudi kodiran genom NHLRC1.[5][6]

NHLRC1
Identifikatori
AliasiNHLRC1
Vanjski ID-jeviOMIM: 608072 MGI: 2145264 HomoloGene: 18439 GeneCards: NHLRC1
Lokacija gena (čovjek)
Hromosom 6 (čovjek)
Hrom.Hromosom 6 (čovjek)[1]
Hromosom 6 (čovjek)
Genomska lokacija za NHLRC1
Genomska lokacija za NHLRC1
Bend6p22.3Početak18,120,440 bp[1]
Kraj18,122,677 bp[1]
Lokacija gena (miš)
Hromosom 13 (miš)
Hrom.Hromosom 13 (miš)[2]
Hromosom 13 (miš)
Genomska lokacija za NHLRC1
Genomska lokacija za NHLRC1
Bend13|13 A5Početak47,166,033 bp[2]
Kraj47,168,326 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija vezivanje iona metala
GO:0001948, GO:0016582 vezivanje za proteine
GO:1904264, GO:1904822, GO:0090622, GO:0090302 ubiquitin protein ligase activity
GO:0050372 aktivnost sa transferazom ubikvitina
aktivnost sa transferazom
Ćelijska komponenta perinuklearno područje citoplazme
citosol
Endoplazmatski retikulum
jedro
Biološki proces Autofagija
protein polyubiquitination
glycogen biosynthetic process
positive regulation of protein ubiquitination
protein ubiquitination
proteasome-mediated ubiquitin-dependent protein catabolic process
regulation of protein phosphorylation
glycogen metabolic process
Regulacija ekspresije gena
regulation of protein ubiquitination
response to endoplasmic reticulum stress
cellular macromolecule metabolic process
regulation of protein kinase activity
regulation of protein localization to plasma membrane
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_198586

NM_175340

RefSeq (bjelančevina)

NP_940988

NP_780549

Lokacija (UCSC)Chr 6: 18.12 – 18.12 MbChr 13: 47.17 – 47.17 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 395 aminokiselina, а molekulska težina 42.293 Da.[7]

1020304050
MAAEASESGPALHELMREAEISLLECKVCFEKFGHRQQRRPRNLSCGHVV
CLACVAALAHPRTLALECPFCRRACRGCDTSDCLPVLHLIELLGSALRQS
PAAHRAAPSAPGALTCHHTFGGWGTLVNPTGLALCPKTGRVVVVHDGRRR
VKIFDSGGGCAHQFGEKGDAAQDIRYPVDVTITNDCHVVVTDAGDRSIKV
FDFFGQIKLVIGGQFSLPWGVETTPQNGIVVTDAEAGSLHLLDVDFAEGV
LRRTERLQAHLCNPRGVAVSWLTGAIAVLEHPLALGTGVCSTRVKVFSSS
MQLVGQVDTFGLSLYFPSKITASAVTFDHQGNVIVADTSGPAILCLGKPE
EFPVPKPMVTHGLSHPVALTFTKENSLLVLDTASHSIKVYKVDWG

Također pogledajte

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Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187566 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044231 - 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. ^ Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW (Sep 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nat Genet. 35 (2): 125–7. doi:10.1038/ng1238. PMID 12958597. S2CID 32590557.
  6. ^ "Entrez Gene: NHLRC1 NHL repeat containing 1".
  7. ^ "UniProt, Q6VVB1" (jezik: engleski). Pristupljeno 3. 10. 2021.

Dopunska literatura

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Vanjski linkovi

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