CCBE1 - collagen and calcium binding EGF domains 1 Gene

Also Known as HKLLS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 147372

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02022	CCBE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22418	Ccbe1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28941	Ccbe1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CCBE1	NCBI