CEP41 - centrosomal protein 41 Gene

中文名称：中心体蛋白 41

种属: Homo sapiens

同用名: JBTS15; TSGA14

基因 ID: 95681 | 基因类型: protein coding

关于 CEP41

Cytogenetic location: 7q32.2 Genomic coordinates (GRCh38): 7:130,393,771-130,441,741 (from NCBI)

This gene has 36 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in testis (RPKM 5.8), salivary gland (RPKM 3.3) and 23 other tissues.

功能概要

该基因编码一种中心体和微管结合蛋白，预计该蛋白具有两个卷曲螺旋结构域和一个硫氰酸酶结构域。在人类视网膜色素上皮细胞中，该蛋白质定位于中心粒和纤毛。该基因的突变与 Joubert 综合症 15 有关；常染色体隐性纤毛病和神经系统疾病。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 3 月]

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

CEP41 基因产物(4)

mRNA	Protein	Name
NM_001257158.2	NP_001244087.1	centrosomal protein of 41 kDa isoform 2
NM_001257159.2	NP_001244088.1	centrosomal protein of 41 kDa isoform 3
NM_001257160.2	NP_001244089.1	centrosomal protein of 41 kDa isoform 4
NM_018718.3	NP_061188.1	centrosomal protein of 41 kDa isoform 1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	22246503	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cilium assembly	IMP IMP: 通过突变表型推断	22246503	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in centriole	IDA IDA: 通过直接分析推断	22246503	GOA
located in centrosome	IDA IDA: 通过直接分析推断	14654843	GOA
located in ciliary basal body	IDA IDA: 通过直接分析推断	22246503	GOA
located in cilium	IDA IDA: 通过直接分析推断	22246503	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

CEP41 蛋白结构

Rhodanese

0
100
200
300
373 a.a.

蛋白主名

其他名称

centrosomal protein of 41 kDa

centrosomal protein 41 kDa

关联疾病

疾病名称

别名

Joubert Syndrome 15

JBTS15

Joubert Syndrome, Type 15

Joubert Syndrome 3

JBTS3	Joubert Syndrome With Ocular Defect
Joubert Syndrome With Ocular Anomalies	Js-O
Joubert Syndrome With Retinopathy	Joubert Syndrome-3
Joubert Syndrome, Type 3

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

Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21

Joubert Syndrome 16

JBTS16

Joubert Syndrome, Type 16

Joubert Syndrome 23

JBTS23

Joubert Syndrome, Type 23

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 26

JBTS26

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

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

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS02514	CEP41 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	CEP41	VGNC	VGNC:39128
Bos taurus	CEP41	VGNC	VGNC:27204
Macaca mulatta	CEP41	VGNC	VGNC:70937
Mus musculus	CEP41	MGD	MGI:1891414
Felis catus	CEP41	VGNC	VGNC:60774
Rattus norvegicus	CEP41	RGD	RGD:1562034

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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

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CEP41 - centrosomal protein 41 Gene

关于 CEP41

功能概要

CEP41 基因产物(4)

CEP41 蛋白结构

关联疾病

直系同源

热门区域

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CEP41 - centrosomal protein 41 Gene

关于 CEP41

功能概要

CEP41 基因产物(4)

CEP41 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

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