Ccbe1 collagen and calcium binding EGF domains 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ccbe1provided by MGI
Official Full Name: collagen and calcium binding EGF domains 1provided by MGI
Primary source: MGI:MGI:2445053
See related: Ensembl:ENSMUSG00000046318 AllianceGenome:MGI:2445053
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA1983; 4933426F18Rik; 9430093N24Rik
Summary: Predicted to enable collagen binding activity and protease binding activity. Involved in positive regulation of angiogenesis and positive regulation of lymphangiogenesis. Acts upstream of or within several processes, including lymphangiogenesis; positive regulation of endothelial cell migration; and respiratory system process. Predicted to be located in extracellular matrix and extracellular space. Predicted to be part of collagen trimer. Is expressed in several structures, including anterior cardinal vein; branchial arch; embryo mesenchyme; heart; and intraembryonic coelom. Human ortholog(s) of this gene implicated in Hennekam syndrome. Orthologous to human CCBE1 (collagen and calcium binding EGF domains 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in adrenal adult (RPKM 8.2), ovary adult (RPKM 7.1) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 E1; 18 39.13 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (66189926..66424909, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (66056855..66291838, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CCBE1 regulates the development and prevents the age-dependent regression of meningeal lymphatics.
Title: CCBE1 regulates the development and prevents the age-dependent regression of meningeal lymphatics.
During mouse embryonic stem cell (ESC) differentiation Ccbe1 is upregulated upon emergence of Isl1- and Nkx2.5- positive cardiac progenitors. Ccbe1 is enriched in Isl1-positive cardiac progenitors isolated from ESCs differentiating in vitro or embryonic hearts developing in vivo. Disruption of Ccbe1 activity by shRNA knockdown or blockade with a neutralizing antibody results in impaired differentiation of ESCs.
Title: Loss of Ccbe1 affects cardiac-specification and cardiomyocyte differentiation in mouse embryonic stem cells.
Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1.
Title: Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1.
CCBE1 is essential for coronary vessel formation, independent of their embryonic origin, and is also necessary for peritruncal vessel growth and proper CA stem patterning.
Title: CCBE1 is required for coronary vessel development and proper coronary artery stem formation in the mouse heart.
Collagen domains of CCBE1 are crucial for the activation of VEGFC in vitro and in vivo. The EGF domains of CCBE1 are dispensable for regulation of VEGFC processing in vitro, however, they are necessary for full lymphangiogenic activity of CCBE1 in vivo.
Title: Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.
CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation.
Title: CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation.
Ccbe1 has an essential role in lymphangiogenesis [review]
Title: A fisheye view on lymphangiogenesis.
The secreted lymphangiogenic protein CCBE1 is essential for fetal but not postnatal erythropoiesis.
Title: The secreted lymphangiogenic factor CCBE1 is essential for fetal liver erythropoiesis.
Ccbe1 expression marks the cardiac and lymphatic progenitor lineages during early stages of mouse development
Title: Ccbe1 expression marks the cardiac and lymphatic progenitor lineages during early stages of mouse development.
Phenotypic analysis of murine Ccbe1 mutant embryos show a complete lack of definitive lymphatic structures, even though lymphatic endothelial cells are specified within the cardinal vein
Title: CCBE1 is essential for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular endothelial growth factor-C in vivo.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (5) 1 citation

General gene information

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Markers

AU048745 (e-PCR)
- UniSTS:145195

MHAa74a6.seq (e-PCR)
- UniSTS:125303

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables collagen binding	ISO Inferred from Sequence Orthology more info	PubMed
enables protease binding	IEA Inferred from Electronic Annotation more info
enables protease binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymph vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymphangiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lymphangiogenesis	ISO Inferred from Sequence Orthology more info
involved_in lymphangiogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of lymphatic endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lymphangiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein processing	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein processing	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vascular endothelial growth factor production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular endothelial growth factor production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vascular endothelial growth factor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular endothelial growth factor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within respiratory gaseous exchange by respiratory system	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in venous blood vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in extracellular matrix	ISO Inferred from Sequence Orthology more info	PubMed
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: collagen and calcium-binding EGF domain-containing protein 1

Names: full of fluid protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_178793.4 → NP_848908.1 collagen and calcium-binding EGF domain-containing protein 1 precursor

See identical proteins and their annotated locations for NP_848908.1

Status: VALIDATED

Source sequence(s)

AC102243, AK035153, AV264768, CJ179960

Consensus CDS

CCDS29314.1

UniProtKB/Swiss-Prot

A7MCU5, Q3MI99, Q5DTT5, Q8BFW1, Q8BMT1

Related

ENSMUSP00000117636.2, ENSMUST00000130300.3

Conserved Domains (1) summary

smart00179
Location:135 → 176

EGF_CA; Calcium-binding EGF-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

66189926..66424909 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161177.1 → XP_036017070.1 collagen and calcium-binding EGF domain-containing protein 1 isoform X2

Conserved Domains (1) summary

pfam12662
Location:3 → 22

cEGF; Complement Clr-like EGF-like
XM_036161176.1 → XP_036017069.1 collagen and calcium-binding EGF domain-containing protein 1 isoform X2

Conserved Domains (1) summary

pfam12662
Location:3 → 22

cEGF; Complement Clr-like EGF-like
XM_006526021.5 → XP_006526084.1 collagen and calcium-binding EGF domain-containing protein 1 isoform X1

Conserved Domains (1) summary

smart00179
Location:65 → 106

EGF_CA; Calcium-binding EGF-like domain