NHLRC1

Protein-coding gene in the species Homo sapiens
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
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for NHLRC1
Genomic location for NHLRC1
Band6p22.3Start18,120,440 bp[1]
End18,122,677 bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for NHLRC1
Genomic location for NHLRC1
Band13|13 A5Start47,166,033 bp[2]
End47,168,326 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • prefrontal cortex

  • islet of Langerhans

  • muscle of thigh

  • right lobe of liver

  • superior frontal gyrus

  • stromal cell of endometrium

  • gastrocnemius muscle

  • Brodmann area 9

  • skin of leg

  • right adrenal gland
Top expressed in
  • interventricular septum

  • dorsomedial hypothalamic nucleus

  • arcuate nucleus

  • median eminence

  • paraventricular nucleus of hypothalamus

  • ventromedial nucleus

  • ventral tegmental area

  • suprachiasmatic nucleus

  • habenula

  • subiculum
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • metal ion binding
  • protein binding
  • ubiquitin protein ligase activity
  • ubiquitin-protein transferase activity
  • transferase activity
Cellular component
  • perinuclear region of cytoplasm
  • cytosol
  • endoplasmic reticulum
  • nucleus
Biological process
  • autophagy
  • 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
  • regulation of gene expression
  • 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
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

378884

105193

Ensembl

ENSG00000187566

ENSMUSG00000044231

UniProt

Q6VVB1

Q8BR37

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

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

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187566 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044231 – Ensembl, 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

  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, et al. (2006). "Lafora disease due to EPM2B mutations: a clinical and genetic study". Neurology. 64 (6): 982–6. doi:10.1212/01.WNL.0000154519.10805.F7. hdl:10261/71541. PMID 15781812. S2CID 22318884.
  • Gentry MS, Worby CA, Dixon JE (2005). "Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin". Proc. Natl. Acad. Sci. U.S.A. 102 (24): 8501–6. doi:10.1073/pnas.0503285102. PMC 1150849. PMID 15930137.
  • Lohi H, Ianzano L, Zhao XC, et al. (2006). "Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy". Hum. Mol. Genet. 14 (18): 2727–36. doi:10.1093/hmg/ddi306. PMID 16115820.
  • Singh S, Sethi I, Francheschetti S, et al. (2007). "Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy". J. Med. Genet. 43 (9): e48. doi:10.1136/jmg.2005.039479. PMC 2564581. PMID 16950819.
  • Mittal S, Dubey D, Yamakawa K, Ganesh S (2007). "Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment". Hum. Mol. Genet. 16 (7): 753–62. doi:10.1093/hmg/ddm006. PMID 17337485.

External links

  • GeneReviews/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy, Lafora Type
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