Gene: HERC1

Alternate names for this Gene: MDFPMR|p532|p619

Gene Summary: 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q22.31

Description of this Gene: HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

Type of Gene: protein-coding

rs74320127 in HERC1 gene and Age related macular degeneration PMID 29346644 2018 Genome-wide analysis of disease progression in age-related macular degeneration.

rs7170477 in HERC1 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs74320127 in HERC1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17186681 in HERC1 gene and Chronic Obstructive Airway Disease PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs797045141 in HERC1 gene and Exophthalmos PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.

rs769677823 in HERC1 gene and MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION PMID 26138117 2015 Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

rs797045141 in HERC1 gene and Orbital separation excessive PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.

rs797045141 in HERC1 gene and Poor school performance PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.

rs17186681 in HERC1 gene and RESTING HEART RATE PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs797045141 in HERC1 gene and Relative macrocephaly PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.

rs34366173 in HERC1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4283174 in HERC1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.