KIF14 - kinesin family member 14 Gene

Also Known as MKS12; MCPH20

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9928

About KIF14

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:200,551,497-200,620,751 (from NCBI)

This gene has 2 transcripts (splice variants), 199 orthologues, 41 paralogues and is associated with 5 phenotypes. Broad expression in bone marrow (RPKM 2.3), lymph node (RPKM 1.7) and 14 other tissues.

Summary

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. [provided by RefSeq, Mar 2015]

KIF14 Products (15)

mRNA Protein Name
XM_047436199.1 XP_047292155.1 kinesin-like protein KIF14 isoform X6
XM_047436184.1 XP_047292140.1 kinesin-like protein KIF14 isoform X2
XM_011510235.3 XP_011508537.1 kinesin-like protein KIF14 isoform X5
XM_011510233.3 XP_011508535.1 kinesin-like protein KIF14 isoform X2
XM_011510232.3 XP_011508534.1 kinesin-like protein KIF14 isoform X1
XM_047436195.1 XP_047292151.1 kinesin-like protein KIF14 isoform X4
XM_017003006.2 XP_016858495.1 kinesin-like protein KIF14 isoform X3
XM_017003007.2 XP_016858496.1 kinesin-like protein KIF14 isoform X7
XM_047436181.1 XP_047292137.1 kinesin-like protein KIF14 isoform X2
XM_011510231.3 XP_011508533.1 kinesin-like protein KIF14 isoform X1
XM_047436197.1 XP_047292153.1 kinesin-like protein KIF14 isoform X5
XM_047436190.1 XP_047292146.1 kinesin-like protein KIF14 isoform X2
XM_047436198.1 XP_047292154.1 kinesin-like protein KIF14 isoform X5
NM_001305792.1 NP_001292721.1 kinesin-like protein KIF14 isoform 2
NM_014875.3 NP_055690.1 kinesin-like protein KIF14 isoform 1
Molecular Function GO Annotation Evidence References Source
enables PDZ domain binding IDA
IDA: Inferred from direct assay
23209302 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16431929 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
16431929 GOA
Biological Process GO Annotation Evidence References Source
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
24854087 GOA
involved in activation of protein kinase activity IMP
IMP: Inferred from mutant phenotype
24784001 GOA
acts upstream of or within establishment of protein localization IDA
IDA: Inferred from direct assay
23209302 GOA
involved in mitotic metaphase chromosome alignment IMP
IMP: Inferred from mutant phenotype
15843429 GOA
involved in negative regulation of apoptotic process IMP
IMP: Inferred from mutant phenotype
24784001 GOA
acts upstream of or within negative regulation of integrin activation IMP
IMP: Inferred from mutant phenotype
23209302 GOA
involved in positive regulation of cell population proliferation IDA
IDA: Inferred from direct assay
24784001 GOA
involved in positive regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
24854087 GOA
involved in positive regulation of cytokinesis IMP
IMP: Inferred from mutant phenotype
16431929 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
24854087 GOA
involved in regulation of G1/S transition of mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
24854087 GOA
involved in regulation of G2/M transition of mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
24854087 GOA
acts upstream of or within regulation of Rap protein signal transduction IMP
IMP: Inferred from mutant phenotype
23209302 GOA
acts upstream of or within regulation of cell adhesion IMP
IMP: Inferred from mutant phenotype
23209302 GOA
involved in regulation of cell growth IMP
IMP: Inferred from mutant phenotype
24854087 GOA
acts upstream of or within regulation of cell migration IMP
IMP: Inferred from mutant phenotype
23209302 GOA
acts upstream of or within substrate adhesion-dependent cell spreading IDA
IDA: Inferred from direct assay
23209302 GOA
Cellular Component GO Annotation Evidence References Source
located in microtubule IDA
IDA: Inferred from direct assay
23209302 GOA
located in midbody IDA
IDA: Inferred from direct assay
16431929 GOA
colocalizes with plasma membrane IPI
IPI: Inferred from physical interaction
24784001 GOA
located in spindle midzone IDA
IDA: Inferred from direct assay
16431929 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KIF14 Protein Structure

Kinesin

Kinesin: Kinesin motor domain (364 - 701)

FHA

FHA: FHA domain (826 - 891)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1648 a.a.
Protein Preferred Names Protein Names

kinesin-like protein KIF14

  • epididymis secretory sperm binding protein

Related Diseases

Diseases Alias
Intraocular Retinoblastoma
  • Pediatric Intraocular Retinoblastoma

Primary Autosomal Recessive Microcephaly
  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly

Leukocoria
  • Leucocoria

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Extraocular Retinoblastoma
  • Pediatric Extraocular Retinoblastoma

Retinoblastoma
  • RB

  • Trilateral Retinoblastoma

  • RB1

  • Retinoblastoma, Trilateral

  • Neuroblastoma Of Retina

  • Rb - Retinoblastoma

  • Eye Cancer, Retinoblastoma

  • Retinal Cancer

  • Retinal Tumor

  • Glioma, Retinal

  • Non-Hereditary Retinoblastoma

  • Childhood Cancer Retinoblastoma

  • Malignant Neoplasm Of Retina

  • Retinal Neoplasms

Medulloblastoma
  • MDB

  • Cpnet

  • Localized Primitive Neuroectodermal Tumor

  • Classic Medulloblastoma

  • Desmoplastic/Nodular Medulloblastoma

  • Medulloblastoma With Extensive Nodularity

  • Desmoplastic Medulloblastoma

  • Medulloblastoma, Somatic

  • Medulloblastoma, Desmoplastic

  • Brain Medulloblastoma

  • Cns Pnet

  • Infratentorial Primitive Neuroectodermal Tumor

  • Mben

  • Medulloblastoma Desmoplastic

  • Neuroectodermal Tumors, Primitive

  • Medulloblastomas

  • Medulloblastoma, With Extensive Nodularity

  • Medulloblastoma Of Unspecified Site

  • Medullomyoblastoma Of Unspecified Site

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Meckel Syndrome 12
  • Lethal Fetal Cerebrorenogenitourinary Agenesis/Hypoplasia Syndrome

  • MKS12

  • Meckel Syndrome, Type 12

Microcephaly 5, Primary, Autosomal Recessive
  • MCPH5

  • Primary Autosomal Recessive Microcephaly 5

  • Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern

  • Microcephaly, Primary Autosomal Recessive, 5

Lissencephaly 4
  • LIS4

  • Lissencephaly 4 With Microcephaly

  • Microlissencephaly

  • Lissencephaly, Type 4

Goldberg-Shprintzen Syndrome
  • Goldberg-Shprintzen Megacolon Syndrome

  • GOSHS

  • Megacolon-Microcephaly Syndrome

Primary Microcephaly
  • True Microcephaly

  • Microcephaly, Primary

Bilateral Retinoblastoma
Microcephaly 20, Primary, Autosomal Recessive
  • MCPH20

Unilateral Retinoblastoma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus KIF14 VGNC VGNC:30583
Canis familiaris KIF14 VGNC VGNC:42383
Felis catus KIF14 VGNC VGNC:63103
Mus musculus KIF14 MGD MGI:1098226
Rattus norvegicus KIF14 RGD RGD:1310650
Macaca mulatta KIF14 VGNC VGNC:99990
Others KIF14 NCBI