KIF4A
Function
Iron-sulfur (Fe-S) cluster binding motor protein that has a role in chromosome segregation during mitosis (PubMed:29848660). Translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis (PubMed:15297875, PubMed:15625105). May play a role in mitotic chromosomal positioning and bipolar spindle stabilization (By similarity).
Involvement in disease
Intellectual developmental disorder, X-linked 100
XLID100
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID100 clinical features include intellectual disability, epilepsy, microcephaly and cortical malformations.
None
The disease may be caused by variants affecting the gene represented in this entry.
Taurodontism, microdontia, and dens invaginatus
TMDI
An X-linked recessive disorder characterized by the triad of taurodontism, microdontia, and dens invaginatus. Taurodontism is a rare developmental dental condition that largely affects the molar teeth and may be associated with hypodontia. In taurodontism, the crown of the molar tooth and pulp chamber are disproportionately longer than the roots. Microdontia, a mild form of hypodontia, is defined as smaller than normal teeth with shortened crowns (vertically or mesio-distally) and loss of contact areas between the teeth. Dens invaginatus or dens invagination is a tooth developmental anomaly that results from either the dental papilla folding into the developing tooth or the entire enamel organ folding into the dental papilla. In both instances, this leads to the formation of a tooth within a tooth.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Chromokinesin subfamily.
Tissue Specificity
Highly expressed in hematopoietic tissues, fetal liver, spleen, thymus and adult thymus and bone marrow. Lower levels are found in heart, testis, kidney, colon and lung.
Cellular localization
- Nucleus matrix
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Spindle
- Midbody
- Chromosome
- Associates with chromosomes at all stage of mitosis (PubMed:11736643, PubMed:15297875, PubMed:15625105). Chromatin localization is dependent on iron-sulfur cluster binding (PubMed:29848660). In anaphase, associates with the mitotic spindle midzone (PubMed:15297875). In telophase and cytokinesis, co-localizes with CIAO2B at the spindle midzone and midbody (PubMed:15297875, PubMed:29848660). Co-localizes with PRC1 in early mitosis and at the spindle midzone from anaphase B to telophase (PubMed:15297875, PubMed:15625105). Does not localize to the nucleolus (PubMed:11736643).
Alternative names
KIF4, KIF4A, Chromosome-associated kinesin KIF4A, Chromokinesin-A