CCBE1 - collagen and calcium binding EGF domains 1 Gene

中文名称：胶原蛋白和钙结合 EGF 结构域 1

种属: Homo sapiens

同用名: HKLLS1

基因 ID: 147372 | 基因类型: protein coding

关于 CCBE1

Cytogenetic location: 18q21.32 Genomic coordinates (GRCh38): 18:59,430,939-59,697,721 (from NCBI)

This gene has 7 transcripts (splice variants), 185 orthologues and is associated with 3 phenotypes. Biased expression in ovary (RPKM 14.7), lung (RPKM 5.5) and 8 other tissues.

功能概要

该基因被认为在细胞外基质重塑和迁移中起作用。它主要在卵巢中表达，但在卵巢癌细胞系和原发性癌中下调，表明其作为肿瘤抑制因子的作用。该基因的突变与 Hennekam 淋巴管扩张-淋巴水肿综合征有关，这是一种人类全身性淋巴管发育不良。[RefSeq 提供，2010 年 3 月]

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian Cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]

CCBE1 基因产物(1)

mRNA	Protein	Name
NM_133459.4	NP_597716.1	collagen and calcium-binding EGF domain-containing protein 1 precursor

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 collagen binding	IDA IDA: 通过直接分析推断	21778431	GOA
enables protease binding	IPI IPI: 通过物理相互作用推断	24552833	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in lymphangiogenesis	IMP IMP: 通过突变表型推断	19935664	GOA
involved in positive regulation of protein processing	IDA IDA: 通过直接分析推断	24552833	GOA
involved in positive regulation of vascular endothelial growth factor production	IDA IDA: 通过直接分析推断	24552833	GOA
involved in positive regulation of vascular endothelial growth factor signaling pathway	IDA IDA: 通过直接分析推断	24552833	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in extracellular matrix	IDA IDA: 通过直接分析推断	21778431	GOA
located in extracellular space	IDA IDA: 通过直接分析推断	24552833	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

CCBE1 蛋白结构

EGF_CA

Collagen

0
100
200
300
406 a.a.

蛋白主名

其他名称

collagen and calcium-binding EGF domain-containing protein 1

full of fluid protein homolog

CCBE1 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
Intra	CCBE1	Q6UXH8	STX11	Homo sapiens	O75558	Validated Y2H	25416956
Intra	CCBE1	Q6UXH8	STX11	Homo sapiens	O75558	Y2H Array	25416956
Intra	CCBE1	Q6UXH8	CEP55	Homo sapiens	Q53EZ4	Y2H Prey Pooling	25416956
Intra	CCBE1	Q6UXH8	CEP55	Homo sapiens	Q53EZ4	Y2H Array	25416956

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

Hennekam Lymphangiectasia-Lymphedema Syndrome 1

Hennekam Lymphangiectasia-Lymphedema Syndrome	HKLLS1
Lymphatic Dysplasia, Generalized	Generalized Lymphatic Dysplasia
Hennekam Syndrome	Lymphangiectasia-Lymphedema, Hennekam Syndrome, Type 1
Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome	Hennekam Lymphangiectasia-Lymphedema Syndrome
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome	Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome	Lymphangiectasies And Lymphedema Hennekam Type
Generalized Lymphatic Dysplasia	Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Cholestasis-Lymphedema Syndrome

Aagenaes Syndrome	Chls
Lcs	Cholestasis-Edema Syndrome, Norwegian Type
Lymphedema-Cholestasis Syndrome	Cholestasis Lymphedema Syndrome
Lcs1	Lymphedema Cholestasis Syndrome

Ehlers-Danlos Syndrome, Dermatosparaxis Type

Dermatosparaxis	EDSDERMS
Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive	Eds Viic
Eds7c	Ehlers-Danlos Syndrome Dermatosparaxis Type
Dermatosparaxis Ehlers-Danlos Syndrome	Dermatosparaxis Eds
Ehlers-Danlos Syndrome Type 7c	Deds
Human Dermatosparaxis Eds Viic	Ehlers-Danlos Syndrome 7c
Ehlers-Danlos Syndrome, Type Viic

Leopard Syndrome 2

LPRD2	Noonan Syndrome With Multiple Lentigines 2
Leopard Syndrome, Type 2

Hereditary Lymphedema

Milroy Disease

Chylothorax, Congenital

Congenital Chylothorax

Hydrothorax, Congenital

Hereditary Lymphedema I

Lymphedema	Hereditary Lymphedema Type I
Congenital Primary Lymphedema	Lmph1
Milroy Disease	Nonne-Milroy Lymphedema
Pcl	Lymphedema Hereditary Type 1

Noonan Syndrome 5

NS5	Noonan Syndrome, Type 5

Van Maldergem Syndrome

Van Maldergem Wetzburger Verloes Syndrome	Cerebro-Facio-Articular Syndrome
Cerebro-Facio-Articular Syndrome Of Van Maldergem	Cerebrofacioarticular Syndrome
Cerebro Facio Articular Syndrome	Van Maldergem-Wetzburger-Verloes Syndrome

Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation

Lymphedema, Microcephaly And Chorioretinopathy Syndrome	Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability
MCLMR	Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome
Mlcrd Syndrome	Cdmmr Syndrome
Lymphedema And Retinal Folds With Microcephaly And Microphthalmos	Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome
Microcephaly Lymphedema Chorioretinal Dysplasia	Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant
Lymphedema, Microcephaly, Chorioretinopathy Syndrome	Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos
Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome	Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Mlcrd	Lymphedema Microcephaly Chorioretinopathy Syndrome
Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome	Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability
Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation

Angioma Serpiginosum

Angioma Serpiginosum Of Skin

Angioma Serpiginosum, X-Linked

Protein-Losing Enteropathy

Protein-Losing Enteropathies	Enteropathy, Exudative
Exudative Enteropathy	Ple - [Protein-Losing Enteropathy]

Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Glomerulonephritis With Sparse Hair And Telangiectases	Telangiectatic Membranoproliferative Glomerulonephritis
HLTRS	Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome
Hlt-Renal Defect Syndrome	Glomerulonephritis Sparse Hair Telangiectases

Hereditary Lymphedema Ii

Meige Syndrome	Meige Disease
Meige Lymphedema	Hereditary Lymphedema Type Ii
Lymphedema Hereditary Type 2	Lymphedema Praecox
Lymphedema, Hereditary, Ii	Blepharospasm-Oromandibular Dystonia Syndrome
Meige Dystonia	Meige'S Syndrome
Late-Onset Lymphedema	Lmph2
Lymphedema Preacox	Lymphedema, Late-Onset
Blepharospasm - Oromandibular Dystonia	Blepharospasm-Oromandibular Dystonia
Brueghel Syndrome	Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome
Oral Facial Dystonia	Segmental Cranial Dystonia
Meigs Syndrome

Lymphedema-Distichiasis Syndrome

Lymphedema With Distichiasis	Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus
LPHDST	Distichiasis-Lymphedema Syndrome
Lymphedema Distichiasis Syndrome	Hereditary Lymphedema-Distichiasis Syndrome
Lymphedema Distichiasis

Adrenal Neuroblastoma

Neuroblastoma Of Adrenal Gland	Adrenal Gland Neuroblastoma
Neuroblastoma Nos

Lymphatic Malformation 5

Meige Syndrome	Meige Disease
Meige Lymphedema	Lymphedema Praecox
Lymphedema, Late-Onset	Late-Onset Lymphedema
LMPH2	Meigs Syndrome
LMPHM5	Lymphedema, Hereditary, Ii, Formerly
Lmph2, Formerly	Hereditary Lymphedema Ii
Demons-Meigs Syndrome	Hereditary Lymphedema Type Ii
Lymphedema, Hereditary, 2	Lymphedema, Hereditary, Ii
Meige'S Disease

Spinal Muscular Atrophy, Distal, X-Linked 3

SMAX3	Dsmax
X-Linked Distal Spinal Muscular Atrophy Type 3	X-Linked Distal Spinal Muscular Atrophy 3
Atp7a-Related Distal Motor Neuropathy	X-Linked Dhmn3
X-Linked Distal Hereditary Motor Neuropathy Type 3	X-Linked Dsma3
Spinal Muscular Atrophy, Distal, X-Linked Recessive	X-Linked Recessive Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy, X-Linked, 3	DSMAX3
Spinal Muscular Atrophy Distal X-Linked Recessive	Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome	KTS
Ktw Syndrome	Angioosteohypertrophy Syndrome
Angio-Osteohypertrophy Syndrome	Klippel Trenaunay Syndrome
Klippel-Trénaunay-Weber Syndrome	Haemangiectatic Hypertrophy
Weber-Klippel-Trenaunay	Congenital Dysplastic Angiopathy
Klippel-Trenaunay Disease	Weber Klippel Trenaunay

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

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-RS02022	CCBE1 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	CCBE1	VGNC	VGNC:38775
Mus musculus	CCBE1	MGD	MGI:2445053
Macaca mulatta	CCBE1	VGNC	VGNC:70673
Bos taurus	CCBE1	VGNC	VGNC:26828
Felis catus	CCBE1	VGNC	VGNC:107699
Rattus norvegicus	CCBE1	RGD	RGD:1307670

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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）

CCBE1 - collagen and calcium binding EGF domains 1 Gene

关于 CCBE1

功能概要

CCBE1 基因产物(1)

CCBE1 蛋白结构

CCBE1 蛋白互作信息

关联疾病

直系同源

热门区域

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CCBE1 - collagen and calcium binding EGF domains 1 Gene

关于 CCBE1

功能概要

CCBE1 基因产物(1)

CCBE1 蛋白结构

CCBE1 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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C

F

G

H

J

L

N

Q

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