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  2. MPLKIP - M-phase specific PLK1 interacting protein Gene

MPLKIP - M-phase specific PLK1 interacting protein Gene

中文名称:M 期特异性 PLK1 相互作用蛋白

种属: Homo sapiens

同用名: ABHS; TTD4; ORF20; C7orf11

基因 ID: 136647 | 基因类型: protein coding

关于 MPLKIP

Cytogenetic location: 7p14.1 Genomic coordinates (GRCh38): 7:40,126,027-40,134,622 (from NCBI)

This gene has 1 transcript (splice variant), 149 orthologues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 18.5), kidney (RPKM 17.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质在有丝分裂期间定位于中心体,在胞质分裂期间定位于中体。该蛋白在有丝分裂期间被细胞周期蛋白依赖性激酶 1 磷酸化,随后与 polo 样激酶 1 相互作用。该蛋白被认为在调节有丝分裂和胞质分裂中起作用。该基因的突变会导致非光敏性毛状硫营养不良。[RefSeq 提供,2009 年 11 月]

The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]

MPLKIP 基因产物(1)

mRNA Protein Name
NM_138701.4 NP_619646.1 M-phase-specific PLK1-interacting protein

MPLKIP 蛋白结构

MPLKIP

MPLKIP: M-phase-specific PLK1-interacting protein (43 - 169)

  • 0
  • 100
  • 179 a.a.
蛋白主名 其他名称

M-phase-specific PLK1-interacting protein

Russell-Silver syndrome region

关联疾病

疾病名称 别名
Trichothiodystrophy 4, Nonphotosensitive

Amish Brittle Hair Brain Syndrome

TTD4

Trichothiodystrophy, Nonphotosensitive 1

Hair-Brain Syndrome

Bids Syndrome

Ttdn1

Abhs

Pollitt Syndrome

Trichothiodystrophy-Neurocutaneous Syndrome

Nonphotosensitive Trichothiodystrophy 4

Trichorrhexis Nodosa Syndrome

Trichothiodystrophy 4, Non-Photosensitive

Trichothiodystrophy Non-Photosensitive 1

Nonphotosensitive Trichothiodystrophy

Trichothiodystrophy Nonphotosensitive

Amish Brittle Hair Brain Syndrome

Trichothiodystrophy 1, Photosensitive

TTD1

Tay Syndrome

Trichothiodystrophy With Congenital Ichthyosis

Photosensitive Trichothiodystrophy

Ibids Syndrome

Ttdp

Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation

Ichthyosis, Congenital, With Trichothiodystrophy

Pibids Syndrome

Photosensitive Trichothiodystrophy 1

Trichothiodystrophy, Photosensitive

Sulfur-Deficient Brittle Hair Syndrome

Ttd-P

Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature

Trichothiodystrophy Photosensitive

Trichothiodystrophy, Type 1

Tricho-Thiodystrophy Disorder

Trichothiodystrophy Syndromes

Amish Brittle Hair Brain Syndrome

Trichothiodystrophy 3, Photosensitive

TTD3

Trichothiodystrophy, Complementation Group A

Ttda

Photosensitive Trichothiodystrophy 3

Trichothiodystrophy Complementation Group A

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes

Glutaric Aciduria Iii

Glutaryl-Coa Oxidase Deficiency

Ga Iii

Glutaric Acidemia Type 3

GA3

Glutaric Aciduria Type 3

Glutaric Aciduria 3

Glutaric Acidemia Type Iii

Glutaric Aciduria Type Iii

Ciliary Dyskinesia, Primary, 6

Primary Ciliary Dyskinesia 6

CILD6

Ics6

Immotile Cilia Syndrome 6

Dyskinesia, Ciliary, Primary, 6

Robinow Syndrome, Autosomal Dominant 3

Autosomal Dominant Robinow Syndrome 3

DRS3

Robinow, Autosomal Dominant Syndrome, Type 3

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2

Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 MPLKIP VGNC VGNC:31579
Rattus norvegicus MPLKIP RGD RGD:1584365
Mus musculus MPLKIP MGD MGI:1913558
Felis catus MPLKIP VGNC VGNC:80626
Macaca mulatta MPLKIP VGNC VGNC:74773
Canis familiaris MPLKIP VGNC VGNC:43339