CEP57 - centrosomal protein 57 Gene

中文名称：中心体蛋白 57

种属: Homo sapiens

同用名: MVA2; PIG8; TSP57

基因 ID: 9702 | 基因类型: protein coding

关于 CEP57

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:95,790,498-95,832,693 (from NCBI)

This gene has 16 transcripts (splice variants), 138 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 11.8), gall bladder (RPKM 11.4) and 25 other tissues.

功能概要

该基因编码一种称为 Translokin 的细胞质蛋白。这种蛋白质定位于中心体并具有稳定微管的功能。这种蛋白质的 N 端一半是其中心体定位和多聚化所必需的，而 C 端一半是微管成核、捆绑和锚定到中心体所必需的。该蛋白与成纤维细胞生长因子 2 (FGF2) 、分选连接蛋白 6、Ran 结合蛋白 M 和驱动蛋白 KIF3A 和 KIF3B 特异性相互作用，从而介导 FGF2 的核易位和促有丝分裂活性。它还与细胞周期蛋白 D1 相互作用并控制细胞周期蛋白 D1 在静止细胞中的核质分布。这种蛋白质对于在细胞分裂过程中维持正确的染色体数量至关重要。该基因的突变会导致马赛克杂色非整倍体综合征，这是一种罕见的常染色体隐性遗传病。已经鉴定出编码不同同种型的多个选择性剪接的转录物变体。[RefSeq 提供，2011 年 8 月]

This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with Fibroblast Growth Factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

CEP57 基因产物(4)

mRNA	Protein	Name
NM_001243776.2	NP_001230705.1	centrosomal protein of 57 kDa isoform b
NM_001243777.2	NP_001230706.1	centrosomal protein of 57 kDa isoform c
NM_001363604.2	NP_001350533.1	centrosomal protein of 57 kDa isoform d
NM_014679.5	NP_055494.2	centrosomal protein of 57 kDa isoform a

CEP57 蛋白结构

Cep57_CLD

Cep57_MT_bd

0
100
200
300
400
500 a.a.

蛋白主名

其他名称

centrosomal protein of 57 kDa

FGF2-interacting protein

重组 CEP57 蛋白

目录号	产品名	蛋白编号	纯度
HY-P76818	CEP57 Protein, Human (His)	Q86XR8 (S118-R226)	≥95%

关联疾病

疾病名称

别名

Mosaic Variegated Aneuploidy Syndrome 2

MVA2	Mosaic Variegated Aneuploidy Syndrome, Type 2

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome	Mva Syndrome
Mosaic Variegated Aneuplody Microcephaly Syndrome	Warburton Anyane Yeboa Syndrome

Mosaic Variegated Aneuploidy Syndrome 1

Mva Syndrome	MVA1
Mosaic Variegated Aneuploidy Syndrome, Type 1	Mosaic Variegated Aneuploidy Syndrome
Congenital Chromosomal Disease

Seckel Syndrome 6

SCKL6

Seckel Syndrome, Type 6

Stromme Syndrome

Jejunal Atresia With Microcephaly And Ocular Anomalies	Apple Peel Syndrome With Microcephaly And Ocular Anomalies
STROMS	Cild31
Lethal Fetal Brain Malformation-Duodenal Atresia-Bilateral Renal Hypoplasia Syndrome	Ciliary Dyskinesia, Primary, 31, Formerly
Cild31, Formerly	Primary Ciliary Dyskinesia 31
Apple-Peel Intestinal Atresia-Ocular Anomalies-Microcephaly Syndrome	Jejunal Atresia-Microcephaly-Ocular Anomalies Syndrome
Ciliary Dyskinesia, Primary, 31	Dyskinesia, Ciliary, Primary, Type 31

Villous Adenocarcinoma

Multiple Enchondromatosis, Maffucci Type

Maffucci Syndrome	Chondrodysplasia With Hemangioma
Chondroplasia Angiomatosis	Enchondromatosis With Hemangiomata
Hemangiomatosis Chondrodystrophica	Kast Syndrome
Multiple Angiomas And Endochondromas	Dyschondrodysplasia With Hemangiomas
Enchondromatosis Type Ii	Enchondromatosis With Multiple Cavernous Hemangiomas
Dyschondroplasia And Cavernous Hemangioma	Hemangiomata With Dyschondroplasia

Chronic Atrial And Intestinal Dysrhythmia

CAID	Caid Syndrome
Cohesinopathy Affecting Heart And Gut Rhythm	Chronic Atrial Intestinal Dysrhythmia Syndrome
Chronic Atrial And Intestinal Dysrhythmia Syndrome	Chronic Atrial Dysrhythmia-Intestinal Motility Disorder
Dysrhythmia, Atrial And Intestinal, Chronic

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Rhabdomyosarcoma

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02518	CEP57 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	CEP57	VGNC	VGNC:60777
Macaca mulatta	CEP57	VGNC	VGNC:71145
Rattus norvegicus	CEP57	RGD	RGD:1309884
Bos taurus	CEP57	VGNC	VGNC:27207
Canis familiaris	CEP57	VGNC	VGNC:39131
Mus musculus	CEP57	MGD	MGI:1915551
Others	CEP57	NCBI

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