KIFAP3

Chr 1

kinesin associated protein 3

Also known as: FLA3, KAP-1, KAP-3, KAP3, SMAP, Smg-GDS, dJ190I16.1

NCBI Gene: 22920 ENSG00000075945 UniProt: Q92845 OMIM: 601836

The protein binds to KIF3A/KIF3B kinesin motors to form the KIF3 complex and is involved in chromosome movement and tethering chromosomes to the spindle pole during cell division. Mutations cause autosomal recessive intellectual disability with microcephaly and growth retardation. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.54

LOEUF

Multiple*

Mechanism· predicted