CCBE1 - collagen and calcium binding EGF domains 1 Gene

Homo sapiens

Also known as HKLLS1

Gene ID: 147372 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables collagen binding	IDA IDA: Inferred from direct assay	21778431	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	24552833	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in lymphangiogenesis	IMP IMP: Inferred from mutant phenotype	19935664	GOA
involved in positive regulation of protein processing	IDA IDA: Inferred from direct assay	24552833	GOA
involved in positive regulation of vascular endothelial growth factor production	IDA IDA: Inferred from direct assay	24552833	GOA
involved in positive regulation of vascular endothelial growth factor signaling pathway	IDA IDA: Inferred from direct assay	24552833	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in extracellular matrix	IDA IDA: Inferred from direct assay	21778431	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	24552833	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCBE1 Protein Structure

EGF_CA

Collagen

0
100
200
300
406 a.a.

Protein Preferred Names

Protein Names

collagen and calcium-binding EGF domain-containing protein 1

full of fluid protein homolog

CCBE1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02022	CCBE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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