CEP78 - centrosomal protein 78 Gene

中文名称：中心体蛋白 78

种属: Homo sapiens

同用名: IP63; CRDHL; C9orf81

基因 ID: 84131 | 基因类型: protein coding

关于 CEP78

Cytogenetic location: 9q21.2 Genomic coordinates (GRCh38): 9:78,236,075-78,279,690 (from NCBI)

This gene has 24 transcripts (splice variants), 219 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.5), brain (RPKM 2.3) and 24 other tissues.

功能概要

该基因编码一种中心体蛋白，该蛋白既是细胞周期中调节中心体相关事件所必需的，也是纤毛发生所必需的。编码的蛋白质具有一个 N 末端富含亮氨酸重复序列 (LRR) 结构域和六个连续的 LRR 重复序列，以及一个 C 末端卷曲螺旋结构域。它与马球样激酶 4 (PLK4) 的 N 末端催化结构域相互作用，并与 PLK4 共定位到中心粒的远端。该基因中自然发生的突变会导致原发性纤毛缺陷，从而导致视网膜变性和感音神经性听力损失，这与视锥杆变性和亚瑟综合征有关。该基因的低表达与结直肠癌患者的不良预后有关。[RefSeq 提供，2017 年 3 月]

This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal Cancer patients. [provided by RefSeq, Mar 2017]

CEP78 基因产物(8)

mRNA	Protein	Name
NM_001098802.3	NP_001092272.1	centrosomal protein of 78 kDa isoform a
NM_001330691.3	NP_001317620.1	centrosomal protein of 78 kDa isoform c
NM_001330693.3	NP_001317622.1	centrosomal protein of 78 kDa isoform d
NM_001330694.2	NP_001317623.1	centrosomal protein of 78 kDa isoform e
NM_001349838.2	NP_001336767.1	centrosomal protein of 78 kDa isoform f
NM_001349839.2	NP_001336768.1	centrosomal protein of 78 kDa isoform g
NM_001349840.2	NP_001336769.1	centrosomal protein of 78 kDa isoform h
NM_032171.3	NP_115547.1	centrosomal protein of 78 kDa isoform b

基因本体论

生物过程
细胞组分

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cilium organization	IMP IMP: 通过突变表型推断	27588451	GOA
involved in flagellated sperm motility	IMP IMP: 通过突变表型推断	36206347	GOA
involved in negative regulation of protein ubiquitination	IDA IDA: 通过直接分析推断	28242748	GOA
involved in protein localization to centrosome	IDA IDA: 通过直接分析推断	28242748	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in centriole	IDA IDA: 通过直接分析推断	34259627	GOA
is active in centrosome	IDA IDA: 通过直接分析推断	28242748	GOA
located in centrosome	IDA IDA: 通过直接分析推断	21399614	GOA
located in ciliary basal body	IDA IDA: 通过直接分析推断	27588451	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

CEP78 蛋白结构

LRR_6

0
200
400
600
689 a.a.

蛋白主名

其他名称

centrosomal protein of 78 kDa

centrosomal protein 78kDa

关联疾病

疾病名称

别名

Cone-Rod Dystrophy And Hearing Loss 1

Cone-Rod Dystrophy And Hearing Loss	CRDHL1
Crdhl	Dystrophy, Cone-Rod, Hearing Loss
Deaf-Blind Disorders

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Usher Syndrome, Type Iiia

Usher Syndrome Type 3	Ush3
Usher Syndrome Type 3a	USH3A
Usher Syndrome, Type Iii	Usher Syndrome, Type 3
Usher Syndrome, Type 3a	Usher Syndrome Type Iiia
Usher Syndrome 3a	Usher'S Syndrome Type 3
Usher Syndrome Iii	Usher Syndrome Type Iii

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Moyamoya Angiopathy

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Neu-Laxova Syndrome 2

NLS2

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Pharc Syndrome	PHARC
Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
Peripheral Neuropathy, Fiskerstrand Type	Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract

Phosphoserine Aminotransferase Deficiency

Psat Deficiency	PSATD
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Psat Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoserine Aminotransferase

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Usher Syndrome, Type I

USH1	Usher Syndrome Type 1
Us1	Usher Syndrome, Type 1b
Usher Syndrome Type 1e	Retinitis Pigmentosa And Congenital Deafness
Usher Syndrome, Type Ie	USH1E
Usher Syndrome, Type 1e	Usher Syndrome, Type 1a
Usher Syndrome, Type Ib	Usher Syndrome Type 1b
Usher Syndrome Type Ie	Usher Syndrome Type I
Usher 1	Usher Syndrome, Type 1
Ush1a	Usher Syndrome, Type I, French Variety
Usher Syndrome, Type Ia	Usher Syndrome 1b
USH1B	Usher'S Syndrome Type 1b
Usher Syndrome Type Ib	Ushib

Joubert Syndrome 26

JBTS26

Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64	Retinal Dystrophy With Early Macular Involvement
CORD16	RP64

Cone-Rod Dystrophy 18

CORD18

Dystrophy, Cone-Rod, Type 18

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Retinal Degeneration

Degeneration Of Retina

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

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-RS02524	CEP78 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21524	Cep78 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS28042	Cep78 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	CEP78	MGD	MGI:1924386
Macaca mulatta	CEP78	VGNC	VGNC:71102
Canis familiaris	CEP78	VGNC	VGNC:39138
Rattus norvegicus	CEP78	RGD	RGD:620464
Felis catus	CEP78	VGNC	VGNC:60784
Bos taurus	CEP78	VGNC	VGNC:27214

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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。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CEP78 - centrosomal protein 78 Gene

关于 CEP78

功能概要

CEP78 基因产物(8)

CEP78 蛋白结构

关联疾病

直系同源

热门区域

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CEP78 - centrosomal protein 78 Gene

关于 CEP78

功能概要

CEP78 基因产物(8)

CEP78 蛋白结构

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