HUWE1

E3 ubiquitin-protein ligase HUWE1 is an enzyme that in humans is encoded by the HUWE1 gene.[5][6][7]

HUWE1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHUWE1, ARF-BP1, HECTH9, HSPC272, Ib772, LASU1, MULE, URE-B1, UREB1, HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase, HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1, MRXST
External IDsOMIM: 300697 MGI: 1926884 HomoloGene: 45994 GeneCards: HUWE1
Orthologs
SpeciesHumanMouse
Entrez

10075

59026

Ensembl

ENSG00000086758

ENSMUSG00000025261

UniProt

Q7Z6Z7

Q7TMY8

RefSeq (mRNA)

NM_031407

NM_021523

RefSeq (protein)

NP_113584

NP_067498

Location (UCSC)Chr X: 53.53 – 53.69 MbChr X: 151.8 – 151.94 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

It performs the third step (ligation) in binding ubiquitin to proteins in a process called ubiquitination which tags the proteins for disposal.

Human genetic studies that implicate HUWE1 in intellectual disability.[8] Additional research suggests HUWE1 has implications in cancer research.

References

  1. GRCh38: Ensembl release 89: ENSG00000086758 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025261 - 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. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, et al. (April 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
  6. Jackson PK, Eldridge AG, Freed E, Furstenthal L, Hsu JY, Kaiser BK, Reimann JD (October 2000). "The lore of the RINGs: substrate recognition and catalysis by ubiquitin ligases". Trends in Cell Biology. 10 (10): 429–39. doi:10.1016/S0962-8924(00)01834-1. PMID 10998601.
  7. "Entrez Gene: HUWE1 HECT, UBA and WWE domain containing 1".
  8. Giles AC, Grill B (April 2020). "Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease". review. Neural Development. 15 (1): 6. doi:10.1186/s13064-020-00143-9. PMC 7184716. PMID 32336296.

Further reading

  • HUWE1 human gene location in the UCSC Genome Browser.
  • International HUWE1 Community: www.huwe1.org
  • Louie's HUWE - a US 501c3 nonprofit to support people with HUWE1-related genetic conditions: www.huwe1.org/louieshuwe
  • HUWE1 human gene details in the UCSC Genome Browser.
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