HERC1 Antibody

1. In the light of recent reports of HERC1 mutations in two families with a similar phenotypic presentation, this report reiterates the pathogenic nature and clinical consequences of HERC1 disruption. PMID: 27108999
2. Biallelic sequence variants in a novel gene (HERC1) are linked to a syndromic form of overgrowth and intellectual disability. PMID: 26138117
3. Data show that E3 ubiquitin-protein ligase HERC1 interacts with bcl-2 homologous antagonist-killer protein BAK in HPV5 E6-expressing cells that have been damaged by UV. PMID: 25408501
4. physical interaction between the HECT domain of HERC1, a giant protein involved in intracellular membrane traffic, and the M2 isoform of glycolytic enzyme pyruvate kinase (M2-PK) PMID: 12650930
5. HERC1 overexpression does not stimulate protrusion formation in the absence of AlF(4)(-), in conditions where ARNO does, indicating that HERC1 is not acting as an ARF6-GEF, but instead its recruitment takes place downstream of ARF6 activation PMID: 14960311
6. HERC1, through its RLD1 (RCC1-like domain), stimulates GDP release from ARF6 but it inhibits GDP/GTP exchange on ARF6 under conditions where ARNO stimulates it. PMID: 15642342
7. global frequency distributions of 4 single nucleotide polymorphisms in the HERC1 gene; 12 population groups included PMID: 19618402

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HGNC: 4867

OMIM: 605109

KEGG: hsa:8925

STRING: 9606.ENSP00000390158

UniGene: Hs.210385