HUWE1 (original) (raw)

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Protein-coding gene in the species Homo sapiens

HUWE1
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes2EKK, 3G1N, 3H1D, 2MUL
Identifiers
Aliases HUWE1, 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 IDs OMIM: 300697; MGI: 1926884; HomoloGene: 45994; GeneCards: HUWE1; OMA:HUWE1 - orthologs
Gene location (Human)X chromosome (human)Chr.X chromosome (human)[1]X chromosome (human)Genomic location for HUWE1Genomic location for HUWE1BandXp11.22Start53,532,096 bp[1]End53,686,728 bp[1]
Gene location (Mouse)X chromosome (mouse)Chr.X chromosome (mouse)[2]X chromosome (mouse)Genomic location for HUWE1Genomic location for HUWE1BandX|X F3Start151,800,807 bp[2]End151,935,417 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inskin of legskin of abdomenright lobe of thyroid glandanterior pituitaryright ovaryleft lobe of thyroid glandleft ovaryganglionic eminenceright hemisphere of cerebellumectocervixTop expressed intail of embryogenital tubercleneural layer of retinaventricular zoneentorhinal cortexsuprachiasmatic nucleusdentate gyrus of hippocampal formation granule cellepiblastsubstantia nigraperirhinal cortexMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function DNA binding protein binding ubiquitin-protein transferase activity RNA binding transferase activity ubiquitin protein ligase activity Cellular component cytoplasm extracellular exosome membrane nucleoplasm extracellular region cytosol secretory granule lumen ficolin-1-rich granule lumen nucleus Biological process cellular response to DNA damage stimulus cell differentiation protein monoubiquitination histone ubiquitination DNA repair protein ubiquitination base-excision repair positive regulation of protein targeting to mitochondrion protein polyubiquitination neutrophil degranulation Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez1007559026EnsemblENSG00000086758ENSMUSG00000025261UniProtQ7Z6Z7Q7TMY8RefSeq (mRNA)NM_031407NM_021523RefSeq (protein)NP_113584NP_067498Location (UCSC)Chr X: 53.53 – 53.69 MbChr X: 151.8 – 151.94 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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.

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000086758 – Ensembl, May 2017
  2. ^ a b c 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.