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KIF14
kinesin family member 14
KIF14 is located on the long (q) arm of chromosome 1, at band 1q32.1. Arm ratio per GRCh38 - banding schematic.
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Overview
KIF14 (kinesin family member 14) is a gene located on chromosome 1 that encodes a motor protein involved in cell division. The protein belongs to the kinesin superfamily, a diverse group of molecular motors that use energy from ATP to move along microtubule tracks within cells. KIF14 is particularly important during cytokinesis, the process by which a single cell physically divides into two daughter cells following chromosome separation. Research suggests that KIF14 concentrates at the midbody, a transient structure that forms between dividing cells, where it coordinates the final steps of cellular separation. Proper function of this protein is essential for maintaining normal cell division across many tissue types.
What the gene does
The KIF14 protein functions as a plus-end directed motor, meaning it moves towards the rapidly growing ends of microtubules. During cell division, KIF14 accumulates at the spindle midzone and midbody, structures composed of overlapping microtubule bundles that form between separating chromosomes. Evidence suggests that KIF14 helps organise and stabilise these microtubule arrays, which are critical for positioning the cleavage furrow and completing abscission, the final membrane separation event. The protein is thought to recruit or regulate other proteins involved in cytokinesis, coordinating multiple aspects of the division machinery. KIF14 activity appears to be regulated through interactions with binding partners and potentially through phosphorylation, allowing cells to precisely control when and where this motor protein is active. Studies indicate that cells lacking functional KIF14 may exhibit defects in completing cell division, potentially leading to binucleated cells or cell death.
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Chromosome location
KIF14 is located on the long arm of chromosome 1 at position 32.1, designated as 1q32.1. This chromosomal region contains multiple genes involved in diverse cellular processes. The precise genomic coordinates and detailed exon structure have been mapped through genome sequencing projects, though the complete transcript architecture may include alternative splice forms that have not been fully characterised across all tissue types.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variants in KIF14 can affect protein function through various mechanisms, including changes to the motor domain that impair microtubule binding or ATP hydrolysis, alterations in regulatory regions that affect protein localisation, or nonsense changes that lead to truncated, non-functional products. The functional impact of any particular variant depends on its location within the gene and the nature of the amino acid change. Some variants may be benign polymorphisms with no clinical consequence, whilst others may substantially impair protein function.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.103C>T | p.Arg35Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Microcephaly 20, primary, autosomal recessive |
c.2609_2610del | p.Tyr870fs | Pathogenic/Likely pathogenic | ★★☆☆ | not provided |
c.1936C>T | p.Gln646Ter | Pathogenic | ★☆☆☆ | not provided |
c.2362C>T | p.Gln788Ter | Pathogenic | ★☆☆☆ | not provided |
c.246_247insG | p.Asn83fs | Pathogenic | ★☆☆☆ | not provided |
c.374_375dup | p.Lys126fs | Pathogenic | ★☆☆☆ | not provided |
c.3910C>T | p.Gln1304Ter | Pathogenic | ★☆☆☆ | Microcephaly 20, primary, autosomal recessive |
c.4059_4060insACTTACAA | p.Leu1354fs | Pathogenic | ★☆☆☆ | not provided |
c.521_522del | p.Phe174fs | Pathogenic | ★☆☆☆ | not provided |
c.834_835insGGGGGGATTGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCAACGCAGAAGACGGTGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAAAGAACACCT | p.Thr279delinsGlyGlyIleGluProArgTrpProAsnArgAsnSerSerGlyLeuGlnLeuProAlaTer | Pathogenic | ★☆☆☆ | not provided |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
The clinical significance of KIF14 variants remains an area of active investigation. Whilst the gene's essential role in cell division suggests that complete loss of function would be incompatible with normal development, the specific disease associations and inheritance patterns for KIF14-related conditions have not been definitively established across large patient cohorts. Research continues to explore potential links between KIF14 dysfunction and developmental or proliferative disorders.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the KIF14 gene do?
KIF14 provides instructions for making a motor protein that moves along microtubules within cells. This protein is essential for the final stage of cell division, helping to ensure that dividing cells separate properly into two daughter cells.
Where is KIF14 located in the genome?
The KIF14 gene is located on the long arm of chromosome 1 at position 32.1, written as 1q32.1. This location has been precisely mapped through genome sequencing projects.
Is genetic testing for KIF14 available on the NHS?
KIF14 is not currently part of routine NHS genomic testing panels. Testing availability may depend on specific clinical circumstances and should be discussed with a healthcare provider or genetics service.