CEP104 - centrosomal protein 104 Gene

中文名称：中心体蛋白 104

种属: Homo sapiens

同用名: GlyBP; MRT77; ROC22; JBTS25; CFAP256; KIAA0562

基因 ID: 9731 | 基因类型: protein coding

关于 CEP104

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:3,812,086-3,857,211 (from NCBI)

This gene has 26 transcripts (splice variants), 201 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 6.6), kidney (RPKM 6.5) and 25 other tissues.

功能概要

该基因编码纤毛发生和纤毛尖端结构完整性所需的中心体蛋白。哺乳动物蛋白包含三个氨基末端疏水结构域、两个糖基化位点、四个富含半胱氨酸的基序，以及两个与离子型谷氨酸受体 NMDA 1 蛋白具有同源性的区域。在纤毛发生过程中，编码的蛋白质从中心粒的远端尖端转移到伸长的纤毛尖端。人视网膜色素细胞中蛋白质的敲低导致纤毛发生的严重缺陷以及纤毛尖端的结构畸形。该基因的等位基因变异与常染色体隐性遗传病 Joubert 综合征有关，其特征是独特的中后脑和小脑畸形、动眼神经失用症、不规则呼吸、发育迟缓和共济失调。[RefSeq 提供，2016 年 2 月]

This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]

CEP104 基因产物(1)

mRNA	Protein	Name
NM_014704.4	NP_055519.1	centrosomal protein of 104 kDa

蛋白主名

其他名称

centrosomal protein of 104 kDa

centrosomal protein 104kDa

CEP104 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	CEP104	O60308	SF1	Homo sapiens	Q15637	Y2H Fragment Pooling	26420826

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Joubert Syndrome 25

JBTS25

Joubert Syndrome, Type 25

Intellectual Developmental Disorder, Autosomal Recessive 77

MRT77

Autosomal Recessive Intellectual Developmental Disorder 77

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Apraxia

Apraxias

Dyspraxia

Oculomotor Apraxia

Cerebellar Malformation

Joubert Syndrome 26

JBTS26

Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia

X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	X-Linked Dominant Chondrodysplasia-Hydrocephaly-Microphthalmia Syndrome
CDP-PBHM	Chondrodysplasia, With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia

Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21

Joubert Syndrome 10

JBTS10

Joubert Syndrome, Type 10

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Cornelia De Lange Syndrome 1

De Lange Syndrome	CDLS1
Cdl	Cdls
Typus Degenerativus Amstelodamensis	Brachmann-De Lange Syndrome
Bdls	Amstelodamensis Typus Degenerativus
Cornelia De Lange Syndrome, Type 1

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1	Jeune Syndrome
SRTD1	Atd1
Asphyxiating Thoracic Dystrophy Of The Newborn	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Atd	Asphyxiating Thoracic Dystrophy
Chondroectodermal Dysplasia-Like Syndrome	Infantile Thoracic Dystrophy
Jeune'S Syndrome	Thoracic Pelvic Phalangeal Dystrophy
Jeune Thoracic Dystrophy

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

Senior-Loken Syndrome 1

Senior-Loken Syndrome	Renal Dysplasia And Retinal Aplasia
Renal-Retinal Syndrome	Loken-Senior Syndrome
Juvenile Nephronophthisis With Leber Amaurosis	SLSN1
Senior-Loken Syndrome-1	Loken Senior Syndrome
Senior Loken Syndrome	Renal Dysplasia Retinal Aplasia
Nephronophthisis With Retinal Dystrophy	Renal Dysplasia-Retinal Aplasia Syndrome
Slsn

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy	Jeune Syndrome
Asphyxiating Thoracic Dysplasia	Short-Rib Thoracic Dysplasia With Or Without Polydactyly
Thoracic Pelvic Phalangeal Dystrophy	Asphyxiating Thoracic Chondrodystrophy
Atd	Chondroectodermal Dysplasia-Like Syndrome
Infantile Thoracic Dystrophy	Jeune Thoracic Dysplasia
Thoracic Asphyxiant Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Short-Rib Thoracic Dysplasia Without Polydactyly	Asphyxiating Thoracic Dystrophy Of The Newborn
Asphyxiating Thorax Dystrophy

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa	Foramen Ovale Patent
Ostium Secundum Atrial Septal Defect	Atrial Septal Defect, Ostium Secundum Type
Foramen Ovale, Patent	Defect, Patent Or Persistent, Ostium Secundum
Ostium Secundum Type Atrial Septal Defect	Persistent Ostium Secundum
Asd Ostium Secundum Type	Ostium Secundum Asd
Osasd	Asd, Ostium Secundum Type
Pfo - [Patent Foramen Ovale]	Open Foramen Ovale
Open Oval Foramen	Persistent Foramen Ovale
Secundum Atrial Septal Defect

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS02496	CEP104 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	CEP104	VGNC	VGNC:39115
Macaca mulatta	CEP104	VGNC	VGNC:71093
Bos taurus	CEP104	VGNC	VGNC:27189
Rattus norvegicus	CEP104	RGD	RGD:708505
Mus musculus	CEP104	MGD	MGI:2687282
Felis catus	CEP104	VGNC	VGNC:60764

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站点地图隐私声明

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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）

CEP104 - centrosomal protein 104 Gene

关于 CEP104

功能概要

CEP104 基因产物(1)

CEP104 蛋白互作信息

关联疾病

直系同源

热门区域

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CEP104 - centrosomal protein 104 Gene

关于 CEP104

功能概要

CEP104 基因产物(1)

CEP104 蛋白互作信息

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