Kinesin Family Member 14

Alternative Names

  • KIF14
  • KIAA0042
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OMIM Number

611279

NCBI Gene ID

9928

Uniprot ID

Q15058

Length

69,255 bases

No. of Exons

32

Protein Name

Kinesin-like protein KIF14

Molecular Mass

186492 Da

Amino Acid Count

1648

Genomic Location

chr1:200,551,497-200,620,751

Gene Map Locus
1q32.1

Description

This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014875.3:c.4071G>ASaudi ArabiaNC_000001.11:g.200565069C>TLikely Pathogenic, PathogenicPathogenicMicrocephaly 20, Primary, Autosomal RecessiveNG_042074.1:g.60666G>A; NM_014875.3:c.4071G>A; NP_055690.1:p.Gln1357=1553254322503567
NM_014875.3:c.4475delUnited Arab EmiratesNC_000001.11:g.200554560delLikely PathogenicMeckel Syndrome 12NG_042074.1:g.71175del; NM_014875.3:c.4475del; NP_055690.1:p.Asp1492ValfsTer13
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