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This gen encodes a member of the HERC protein family.
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Biallelic sequence variants in a novel gene (HERC1) are linked to a syndromic form of overgrowth and intellectual disability.
Data show that E3 ubiquitin-protein ligase (show UBE2K Antibodies) HERC1 interacts with bcl-2 homologous antagonist-killer (show BAK1 Antibodies) protein BAK (show BAK1 Antibodies) in HPV5 E6-expressing cells that have been damaged by UV.
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)
HERC1 overexpression does not stimulate protrusion formation in the absence of AlF(4)(-), in conditions where ARNO (show CYTH2 Antibodies) does, indicating that HERC1 is not acting as an ARF6 (show ARF6 Antibodies)-GEF (show SLC2A4RG Antibodies), but instead its recruitment takes place downstream of ARF6 (show ARF6 Antibodies) activation
HERC1, through its RLD1 (show NR1H3 Antibodies) (RCC1 (show RCC1 Antibodies)-like domain), stimulates GDP release from ARF6 (show ARF6 Antibodies) but it inhibits GDP/GTP (show AK3 Antibodies) exchange on ARF6 (show ARF6 Antibodies) under conditions where ARNO (show CYTH2 Antibodies) stimulates it.
global frequency distributions of 4 single nucleotide polymorphisms in the HERC1 gene; 12 population groups included
This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes.
HECT domain and RCC1-like domain-containing protein 1
, guanine nucleotide exchange factor p532
, hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1
, probable E3 ubiquitin-protein ligase HERC1