Gene: SH3RF1

Alternate names for this Gene: POSH|RNF142|SH3MD2

Gene Summary: This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module.

Gene is located in Chromosome: 4

Location in Chromosome : 4q32.3-q33

Description of this Gene: SH3 domain containing ring finger 1

Type of Gene: protein-coding

rs9994441 in SH3RF1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs551544003 in SH3RF1 gene and Body Weight PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.