1. Gene
  2. KIF14 - kinesin family member 14 Gene

KIF14 - kinesin family member 14 Gene

中文名称:驱动蛋白家族成员 14

种属: Homo sapiens

同用名: MKS12; MCPH20

基因 ID: 9928 | 基因类型: protein coding

关于 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.

功能概要

该基因编码微管运动蛋白 kinesin-3 超家族的成员。这些蛋白质参与许多过程,包括囊泡运输、染色体分离、有丝分裂纺锤体形成和胞质分裂。在人 HeLa-S3 和 293T 细胞中,该蛋白在间期定位于细胞质,在有丝分裂期间定位于纺锤体极和纺锤体微管,在胞质分裂期间定位于中体。内部运动域显示微管依赖性 ATP 酶活性,与其作为微管运动蛋白的功能一致。该基因的敲低导致胞质分裂失败并发生核内复制,从而产生多核细胞。该基因已被确定为乳腺癌、肺癌和卵巢癌以及视网膜母细胞瘤和神经胶质瘤中可能的致癌基因。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables PDZ domain binding IDA
IDA: 通过直接分析推断
23209302 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16431929 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
16431929 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
24854087 GOA
involved in activation of protein kinase activity IMP
IMP: 通过突变表型推断
24784001 GOA
acts upstream of or within establishment of protein localization IDA
IDA: 通过直接分析推断
23209302 GOA
involved in mitotic metaphase chromosome alignment IMP
IMP: 通过突变表型推断
15843429 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
24784001 GOA
acts upstream of or within negative regulation of integrin activation IMP
IMP: 通过突变表型推断
23209302 GOA
involved in positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
24784001 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
24854087 GOA
involved in positive regulation of cytokinesis IMP
IMP: 通过突变表型推断
16431929 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
24854087 GOA
involved in regulation of G1/S transition of mitotic cell cycle IMP
IMP: 通过突变表型推断
24854087 GOA
involved in regulation of G2/M transition of mitotic cell cycle IMP
IMP: 通过突变表型推断
24854087 GOA
acts upstream of or within regulation of Rap protein signal transduction IMP
IMP: 通过突变表型推断
23209302 GOA
acts upstream of or within regulation of cell adhesion IMP
IMP: 通过突变表型推断
23209302 GOA
involved in regulation of cell growth IMP
IMP: 通过突变表型推断
24854087 GOA
acts upstream of or within regulation of cell migration IMP
IMP: 通过突变表型推断
23209302 GOA
acts upstream of or within substrate adhesion-dependent cell spreading IDA
IDA: 通过直接分析推断
23209302 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in microtubule IDA
IDA: 通过直接分析推断
23209302 GOA
located in midbody IDA
IDA: 通过直接分析推断
16431929 GOA
colocalizes with plasma membrane IPI
IPI: 通过物理相互作用推断
24784001 GOA
located in spindle midzone IDA
IDA: 通过直接分析推断
16431929 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KIF14 蛋白结构

Kinesin

Kinesin: Kinesin motor domain (364 - 701)

FHA

FHA: FHA domain (826 - 891)

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  • 1648 a.a.
蛋白主名 其他名称

kinesin-like protein KIF14

epididymis secretory sperm binding protein

关联疾病

疾病名称 别名
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
疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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