Human Gene KIFAP3 (uc001ggv.3) Description and Page Index
Description: Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA. RefSeq Summary (NM_014970): 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]. Transcript (Including UTRs) Position: hg19 chr1:169,890,470-170,043,879 Size: 153,410 Total Exon Count: 20 Strand: - Coding Region Position: hg19 chr1:169,890,817-170,043,608 Size: 152,792 Coding Exon Count: 20
ID:KIFA3_HUMAN DESCRIPTION: RecName: Full=Kinesin-associated protein 3; Short=KAP-3; Short=KAP3; AltName: Full=Smg GDS-associated protein; FUNCTION: Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex (By similarity). SUBUNIT: Heterotrimer of KIFAP3, KIF3A and KIF3B. Interacts with RAP1GDS1/SMG GDS. Interacts with SMC3 subunit of the cohesin complex. PTM: Phosphorylated on tyrosine residues by SRC in vitro; this reduces the binding affinity of the protein for RAP1GDS1. SIMILARITY: Contains 5 ARM repeats.
Genetic Association Studies of Complex Diseases and Disorders
Amyotrophic lateral sclerosis Landers ,et al. 2009, Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis, Proceedings of the National Academy of Sciences of the United States of America 2009 106- 22 : 9004-9.
Amyotrophic Lateral Sclerosis John E Landers et al. Proceedings of the National Academy of Sciences of the United States of America 2009, Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis., Proceedings of the National Academy of Sciences of the United States of America.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q92845
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006890 retrograde vesicle-mediated transport, Golgi to ER GO:0007017 microtubule-based process GO:0007018 microtubule-based movement GO:0007165 signal transduction GO:0008104 protein localization GO:0008285 negative regulation of cell proliferation GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0035735 intraciliary transport involved in cilium assembly GO:0043066 negative regulation of apoptotic process GO:0046587 positive regulation of calcium-dependent cell-cell adhesion GO:0065003 macromolecular complex assembly GO:0072383 plus-end-directed vesicle transport along microtubule