HUWE1

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

PDBOrtholog search: PDBe RCSB

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; OMA:HUWE1 - orthologs

Chr.X chromosome (human)^[1]

Quick facts Available structures, PDB ...

HUWE1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2EKK, 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) Chr. X chromosome (human)[1] Band Xp11.22 Start 53,532,096 bp[1] End 53,686,728 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X F3 Start 151,800,807 bp[2] End 151,935,417 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of leg skin of abdomen right lobe of thyroid gland anterior pituitary right ovary left lobe of thyroid gland left ovary ganglionic eminence right hemisphere of cerebellum ectocervix Top expressed in tail of embryo genital tubercle neural layer of retina ventricular zone entorhinal cortex suprachiasmatic nucleus dentate gyrus of hippocampal formation granule cell epiblast substantia nigra perirhinal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular 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
Orthologs Species Human Mouse 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 Mb Chr X: 151.8 – 151.94 Mb PubMed search [3] [4]
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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.