CERKL - ceramide kinase like Gene

中文名称：神经酰胺激酶样

种属: Homo sapiens

同用名: RP26

基因 ID: 375298 | 基因类型: protein coding

关于 CERKL

Cytogenetic location: 2q31.3 Genomic coordinates (GRCh38): 2:181,536,672-181,657,105 (from NCBI)

This gene has 15 transcripts (splice variants), 241 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in lymph node (RPKM 16.6), appendix (RPKM 16.2) and 20 other tissues.

功能概要

该基因最初被确定为与常染色体隐性遗传形式的视网膜色素变性 (arRP) 疾病相关的基因座 (RP26) 。该基因编码一种具有神经酰胺激酶样结构域的蛋白质，但该蛋白质不会使神经酰胺磷酸化，其靶底物目前未知。这种蛋白质可能是感光细胞凋亡的负调节剂。该基因的突变会导致一种以常染色体隐性遗传视锥细胞和视杆细胞营养不良 (arCRD) 为特征的色素性视网膜炎。该基因的可变剪接导致编码不同亚型和非编码转录本的多个转录本变体。[RefSeq 提供，2010 年 5 月]

This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of Apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]

CERKL 基因产物(5)

mRNA	Protein	Name
NM_001030311.3	NP_001025482.1	ceramide kinase-like protein isoform 2
NM_001030312.3	NP_001025483.1	ceramide kinase-like protein isoform 3
NM_001030313.3	NP_001025484.1	ceramide kinase-like protein isoform 4
NM_001160277.2	NP_001153749.1	ceramide kinase-like protein isoform 7
NM_201548.5	NP_963842.1	ceramide kinase-like protein 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	33961781	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of apoptotic process	IDA IDA: 通过直接分析推断	19158957	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	19158957	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	19158957	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	19158957	GOA
located in nucleolus	IDA IDA: 通过直接分析推断	19158957	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

CERKL 蛋白结构

DAGK_cat

0
100
200
300
400
500
558 a.a.

蛋白主名

其他名称

ceramide kinase-like protein

CERKL 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	CERKL	Q49MI3	PPM1A	Homo sapiens	P35813	Anti Tag CoIP	33961781

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

Retinitis Pigmentosa 26

RP26	Retinitis Pigmentosa-26
Retinitis Pigmentosa, Type 26

Isolated Macular Dystrophy

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

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

Retinitis

Pseudoretinitis Pigmentosa

Secondary Pigmentary Retinal Degeneration

Secondary Pigmentary Degeneration Of Retina

Retinitis Pigmentosa 73

RP73	Retinitis Pigmentosa, Type 73

Retinitis Pigmentosa 85

RP85	Retinitis Pigmentosa, Type 85

Peripheral Retinal Degeneration

Peripheral Degeneration Of Retina	Degeneration Of Retina Nos
Reticular Retinal Degeneration	Retinal Degeneration

Solar Retinopathy

Solar Retinitis

Retinal Degeneration

Degeneration Of Retina

Choroidal Dystrophy, Central Areolar, 1

Choroidal Sclerosis	Choroidal Dystrophy
Choroidal Dystrophy, Central Areolar	Cacd
Central Areolar Choroidal Dystrophy	CACD1
Choroidal Dystrophy, Central Areolar 1	Choroidal Dystrophy Central Areolar
Central Areolar Choroidal Sclerosis	Choroidal Degenerations
Areolar Atrophy Of The Macula	Partial Central Choroid Dystrophy
Degenerative Choroidopathy	Chorioretinal Degeneration
Hereditary Chorioretinal Degeneration	Hereditary Degeneration Of Choroid
Hereditary Choroidal Dystrophies	Generalised Choroidal Dystrophy
Hereditary Choroidopathy

Chorioretinal Scar

Chorioretinal Cicatrix	Cicatrix Of Choroid
Choroid Scar	Macula Scar
Macular Scarring	Retinal Cicatrix
Retinal Scar

Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64	Retinal Dystrophy With Early Macular Involvement
CORD16	RP64

Stargardt Disease

Stargardt Disease 1	Stargardt Macular Dystrophy
Stargardt Disease-1	Juvenile Onset Macular Degeneration
Stargardt Macular Degeneration	Juvenile Macular Degeneration
Macular Dystrophy With Flecks, Type 1	Stgd
Fundus Flavimaculatus	Stargardt 1
Stargardts Disease

Fundus Albipunctatus

Retinitis Punctata Albescens	Pigmentary Retinal Dystrophy
RPA	Albipunctate Retinal Dystrophy
Lauber'S Disease	FALBI
Fa

Eye Degenerative Disease

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Usher Syndrome Type 2

Ush2	Usher Syndrome Type Ii

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

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

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

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

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

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-RS02535	CERKL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CERKL	RGD	RGD:1561057
Mus musculus	CERKL	MGD	MGI:3037816
Felis catus	CERKL	VGNC	VGNC:80166
Bos taurus	CERKL	VGNC	VGNC:27223
Macaca mulatta	CERKL	VGNC	VGNC:71074
Canis familiaris	CERKL	VGNC	VGNC:39147

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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）

CERKL - ceramide kinase like Gene

关于 CERKL

功能概要

CERKL 基因产物(5)

CERKL 蛋白结构

CERKL 蛋白互作信息

关联疾病

直系同源

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CERKL - ceramide kinase like Gene

关于 CERKL

功能概要

CERKL 基因产物(5)

CERKL 蛋白结构

CERKL 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