NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.[5][6]

NHLRC1
Identifiers
AliasesNHLRC1, EPM2A, EPM2B, MALIN, bA204B7.2, NHL repeat containing E3 ubiquitin protein ligase 1
External IDsOMIM: 608072; MGI: 2145264; HomoloGene: 18439; GeneCards: NHLRC1; OMA:NHLRC1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_198586

NM_175340

RefSeq (protein)

NP_940988

NP_780549

Location (UCSC)Chr 6: 18.12 – 18.12 MbChr 13: 47.17 – 47.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187566Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044231Ensembl, May 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".

Further reading

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