KIFAP3
kinesin associated protein 3
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. [provided by RefSeq, Mar 2011]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs753576167 | 1:169,890,863 | T/G | — | uncertain significance |
| rs201157159 | 1:169,923,170 | T/C | — | uncertain significance |
| rs751428469 | 1:169,923,211 | G/T | — | uncertain significance |
| rs2526951823 | 1:169,923,224 | A/G | — | uncertain significance |
| rs508063 | 1:169,923,676 | A/C | — | — |
| rs779566227 | 1:169,930,235 | T/C | — | uncertain significance |
| rs149794721 | 1:169,938,684 | C/T | intron variant | — |
| rs774371486 | 1:169,947,244 | C/T | — | uncertain significance |
| rs113299887 | 1:169,950,203 | T/C | intron variant | — |
| rs41302121 | 1:169,951,117 | T/C | — | likely benign |
| rs1241436225 | 1:169,951,920 | G/T | — | uncertain significance |
| rs1322722615 | 1:169,951,966 | C/T | — | uncertain significance |
| rs12075833 | 1:169,951,978 | A/C | — | benign |
| rs748975658 | 1:169,953,745 | T/G | — | uncertain significance |
| rs116755924 | 1:169,953,815 | A/C | — | benign |
| rs149027544 | 1:169,961,335 | G/A | — | benign |
| rs2527168316 | 1:169,961,345 | A/C | — | uncertain significance |
| rs2527320740 | 1:169,985,659 | C/T | — | uncertain significance |
| rs2527320787 | 1:169,985,666 | C/G | — | uncertain significance |
| rs2527371259 | 1:169,993,648 | C/T | — | uncertain significance |
| rs2527371769 | 1:169,993,704 | T/C | — | uncertain significance |
| rs1541160 | 1:169,995,802 | C/G | — | — |
| rs36022648 | 1:170,001,034 | T/C | — | benign |
| rs780211624 | 1:170,008,394 | G/A | — | uncertain significance |
| rs1019209558 | 1:170,010,879 | A/G | — | likely benign |
| rs537407535 | 1:170,010,897 | C/T | — | likely benign |
| rs201441472 | 1:170,015,873 | C/T | — | uncertain significance |
| rs74122308 | 1:170,015,915 | A/C | — | uncertain significance |
| rs1317654961 | 1:170,015,970 | T/C | — | uncertain significance |
| rs2527556924 | 1:170,024,563 | C/T | — | uncertain significance |
| rs1187609378 | 1:170,043,604 | T/A | — | uncertain significance |
| rs522444 | 1:170,043,904 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.