Gene: KIFAP3

Alternate names for this Gene: FLA3|KAP-1|KAP-3|KAP3|SMAP|Smg-GDS|dJ190I16.1

Gene Summary: The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.2

Description of this Gene: kinesin associated protein 3

Type of Gene: protein-coding

rs61806081 in KIFAP3 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs1541160 in KIFAP3 gene and Amyotrophic Lateral Sclerosis PMID 19451621 2009 Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.

rs115476742 in KIFAP3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs688565 in KIFAP3 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.