CEP43 - centrosomal protein 43 Gene

中文名称：中心体蛋白 43

种属: Homo sapiens

同用名: FOP; FGFR1OP

基因 ID: 11116 | 基因类型: protein coding

关于 CEP43

Cytogenetic location: 6q27 Genomic coordinates (GRCh38): 6:166,999,397-167,052,718 (from NCBI)

This gene has 41 transcripts (splice variants), 197 orthologues and is associated with 51 phenotypes. Broad expression in testis (RPKM 19.6), adrenal (RPKM 5.3) and 24 other tissues.

功能概要

该基因编码一种主要亲水性的中心体蛋白，该蛋白是将微管锚定到亚细胞结构所必需的。已在骨髓增生性疾病病例中发现融合该基因和成纤维细胞生长因子受体 1 (FGFR1) 基因的 t (6;8) (q27;p11) 染色体易位。得到的嵌合蛋白包含该编码蛋白的 N 末端富含亮氨酸的区域，该区域融合到 FGFR1 的催化结构域。该基因的改变也可能与克罗恩病、格雷夫斯病和白斑病有关。已经鉴定出编码不同蛋白质的可变剪接转录物变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the Fibroblast Growth Factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]

CEP43 基因产物(3)

mRNA	Protein	Name
NM_001278690.2	NP_001265619.1	centrosomal protein 43 isoform c
NM_007045.4	NP_008976.1	centrosomal protein 43 isoform a
NM_194429.3	NP_919410.1	centrosomal protein 43 isoform b

CEP43 蛋白结构

FOP_dimer

0
100
200
300
399 a.a.

蛋白主名

其他名称

centrosomal protein 43

FGFR1 oncogene partner

重组 CEP43 蛋白

目录号	产品名	蛋白编号	纯度
HY-P76927	FGFR1OP Protein, Human (sf9, His-GST)	O95684-2 (A2-A379)	≥95%

关联疾病

疾病名称

别名

Graves' Disease

Graves Disease	Exophthalmic Goiter
Basedow'S Disease	Grave'S Disease
Basedow Disease	Toxic Diffuse Goiter
Graves' Hyperthyroidism	Parry Disease
Autoimmune Hyperthyroidism	Toxic Multinodular Goiter

Crohn'S Disease

Crohn Disease	Pediatric Crohn'S Disease
Regional Enteritis	Crohn'S Disease Of Large Bowel
Granulomatous Colitis	Enteritis, Granulomatous
Enteritis	Crohn'S Disease Of Colon
Colitis, Granulomatous	Crohn'S Enteritis
Enteritis, Regional	Ileitis
Adenoviral Enteritis	Acute Gastroenteropathy Due To Norwalk Agent
Viral Gastroenteritis Due To Norwalk Agent	Winter Vomiting
Epidemic Winter Vomiting Disease	Small Round Structured Virus Enteritis
Epidemic Vomiting Syndrome	Epidemic Vomiting
Epidemic Nausea	Epidemic Viral Gastroenteritis Due To Norwalk Virus
Noroviral Enteritis	Crohn Disease Nos
Crohns	Cd - [Crohn'S Disease]
Regional Enteritis Of Bowel	Crohn'S Regional Enteritis
Cobble-Stone Appearance Of Intestine	Intestinal Ulcer And Erosion Due To Crohn Disease
Granulomatous Enteritis

Myeloproliferative Neoplasm

Myeloproliferative Disorder	Chronic Myeloproliferative Disease
Myeloproliferative Neoplasms	Chronic Myeloproliferative Disorder
Cmpd	Cmpd, U
Chronic Myeloproliferative Disorders	Mpd
Mpn	Myeloproliferative Disorders
Myeloproliferative Disease	Campomelic Dysplasia

Lymphoblastic Lymphoma

Lymphoma, Lymphoblastic	Lymphoma Lymphoblastic
Precursor Cell Lymphoblastic Lymphoma	Precursor Cell Lymphoblastic Leukemia Lymphoma

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

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-RS02515	CEP43 Human Pre-designed siRNA Set A		/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	CEP43	MGD	MGI:1922546
Felis catus	CEP43	VGNC	VGNC:62259
Bos taurus	CEP43	VGNC	VGNC:28985
Canis familiaris	CEP43	VGNC	VGNC:40857
Rattus norvegicus	CEP43	RGD	RGD:1583370
Macaca mulatta	CEP43	VGNC	VGNC:72519
Others	CEP43	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。沪(浦)应急管危经许[2021]201709(QFYS)

站点地图隐私声明

CEP43 - centrosomal protein 43 Gene

关于 CEP43

功能概要

CEP43 基因产物(3)

CEP43 蛋白结构

重组 CEP43 蛋白

关联疾病

直系同源

热门区域

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CEP43 - centrosomal protein 43 Gene

关于 CEP43

功能概要

CEP43 基因产物(3)

CEP43 蛋白结构

重组 CEP43 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z