CCDC115 - coiled-coil domain containing 115 Gene

中文名称：含卷曲螺旋结构域 115

种属: Homo sapiens

同用名: ccp1; CDG2O

基因 ID: 84317 | 基因类型: protein coding

关于 CCDC115

Cytogenetic location: 2q21.1 Genomic coordinates (GRCh38): 2:130,337,933-130,342,681 (from NCBI)

This gene has 5 transcripts (splice variants), 182 orthologues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 17.0), thyroid (RPKM 15.4) and 25 other tissues.

功能概要

已观察到由该基因编码的蛋白质定位于某些人类细胞中的内质网 (ER) -高尔基体中间室 (ERGIC) 和外壳蛋白复合物 I (COPI) 囊泡。编码的蛋白质与酵母 V-ATPase 组装因子 Vma22p 具有一定的同源性，小鼠中的同源蛋白促进细胞增殖并抑制细胞死亡。该基因的缺陷是导致人类 IIo 型糖基化先天性障碍的原因。[RefSeq 提供，2016 年 3 月]

The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]

CCDC115 基因产物(3)

mRNA	Protein	Name
NM_001321118.1	NP_001308047.1	coiled-coil domain-containing protein 115 isoform b
NM_001321119.2	NP_001308048.2	coiled-coil domain-containing protein 115 isoform d
NM_032357.4	NP_115733.2	coiled-coil domain-containing protein 115 isoform a

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	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to increased oxygen levels	IMP IMP: 通过突变表型推断	28296633	GOA
involved in intracellular iron ion homeostasis	IMP IMP: 通过突变表型推断	28296633	GOA
involved in lysosomal lumen acidification	IMP IMP: 通过突变表型推断	28296633	GOA
involved in lysosomal protein catabolic process	IMP IMP: 通过突变表型推断	28296633	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in COPI-coated vesicle	IDA IDA: 通过直接分析推断	26833332	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	28296633	GOA
located in endoplasmic reticulum-Golgi intermediate compartment	IDA IDA: 通过直接分析推断	26833332	GOA
part of vacuolar proton-transporting V-type ATPase complex	IDA IDA: 通过直接分析推断	28296633	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

蛋白主名

其他名称

coiled-coil domain-containing protein 115

CCDC115 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	CCDC115	Q96NT0	MIS18A	Homo sapiens	Q9NYP9	Validated Y2H	32296183
种属内	CCDC115	Q96NT0	ABI2	Homo sapiens	Q9NYB9-2	Validated Y2H	32296183
种属内	CCDC115	Q96NT0	RARS1	Homo sapiens	P54136	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

Congenital Disorder Of Glycosylation, Type Iio

CDG2O	Ccdc115-Cdg
Cdg Iio	Congenital Disorder Of Glycosylation Type Iio
Cdgiio	Carbohydrate Deficient Glycoprotein Syndrome Type Iio
Cdg Syndrome Type Iio	Congenital Disorder Of Glycosylation Type 2o
Cdg-Iio	Cdgiido
Congenital Disorder Of Glycosylation 2o	Glycosylation, Congenital Disorder Of, Type Iio

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

Congenital Disorder Of Glycosylation, Type Iip

CDG2P	Tmem199-Cdg
Cdg Iip	Congenital Disorder Of Glycosylation Type Iip
Cdgiip	Carbohydrate Deficient Glycoprotein Syndrome Type Iip
Cdg Syndrome Type Iip	Congenital Disorder Of Glycosylation Type 2p
Cdg-Iip	Cdgiidp
Congenital Disorder Of Glycosylation 2p

Seminal Vesicle Tumor

Tumor Of Seminal Vesicle	Seminal Vesicle Neoplasm
Seminal Vesicle Tumour	Tumour Of Seminal Vesicle

Wilson Disease

Hepatolenticular Degeneration	WD
Wilson'S Disease	WND
Westphal-Strumpell Syndrome	Copper Storage Disease
Cerebral Pseudosclerosis	Westphal Pseudosclerosis
Hepatolenticular Degeneration Syndrome	Copper Retention
Hepatocerebral Degeneration	Kinnier-Wilson Disease
Neurohepatic Degeneration	Progressive Hepatolenticular Degeneration
Lenticular Degenerative Disease	Wilson'S Syndrome
Lenticular Syndrome

Cholesterol Ester Storage Disease

Myopathy, X-Linked, With Excessive Autophagy

X-Linked Myopathy With Excessive Autophagy	Xmea
MEAX	Vacuolar Myopathy

Male Reproductive Organ Benign Neoplasm

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures	Dark Dot Disease
Reticulate Acropigmentation Of Kitamura	Dowling-Degos Kitamura Disease
Kitamura Reticulate Acropigmentation	Ddd
Dowling-Degos-Kitamura Disease	Reticular Pigmented Anomaly Of Flexures

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome	Erythrokeratodermia Variabilis 3
MEDNIK	Ekv3
Erythrokeratodermia Variabilis, Kamouraska Type	Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome	Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Erythrokeratodermia Variabilis Kamouraska Type
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

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-RS02025	CCDC115 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	CCDC115	VGNC	VGNC:104516
Canis familiaris	CCDC115	VGNC	VGNC:38784
Mus musculus	CCDC115	MGD	MGI:1916918
Felis catus	CCDC115	VGNC	VGNC:102174
Rattus norvegicus	CCDC115	RGD	RGD:1304653

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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）

CCDC115 - coiled-coil domain containing 115 Gene

关于 CCDC115

功能概要

CCDC115 基因产物(3)

CCDC115 蛋白互作信息

关联疾病

直系同源

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CCDC115 - coiled-coil domain containing 115 Gene

关于 CCDC115

功能概要

CCDC115 基因产物(3)

CCDC115 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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