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

    Gene ID: 320924, updated on 12-May-2024

    Summary

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    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, Apr 2022]
    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

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    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_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1962 Neighboring gene complexin 4 Neighboring gene lectin, mannose-binding, 1 Neighboring gene STARR-seq mESC enhancer starr_44856 Neighboring gene STARR-seq mESC enhancer starr_44857 Neighboring gene STARR-seq mESC enhancer starr_44859 Neighboring gene microRNA 694 Neighboring gene predicted gene 15958 Neighboring gene STARR-seq mESC enhancer starr_44860 Neighboring gene STARR-positive B cell enhancer ABC_E7599 Neighboring gene STARR-seq mESC enhancer starr_44861 Neighboring gene STARR-seq mESC enhancer starr_44863 Neighboring gene STARR-positive B cell enhancer ABC_E8928 Neighboring gene STARR-positive B cell enhancer ABC_E7600 Neighboring gene predicted gene, 20294 Neighboring gene STARR-positive B cell enhancer ABC_E318 Neighboring gene STARR-positive B cell enhancer ABC_E7601 Neighboring gene phorbol-12-myristate-13-acetate-induced protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Loss of Ccbe1 affects cardiac-specification and cardiomyocyte differentiation in mouse embryonic stem cells. Bover O, et al. PLoS One, 2018. PMID 30281646, Free PMC Article
    2. A fisheye view on lymphangiogenesis. van Impel A, et al. Adv Anat Embryol Cell Biol, 2014. PMID 24276893
    3. Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1. Jha SK, et al. Sci Rep, 2017 Jul 7. PMID 28687807, Free PMC Article
    4. Ccbe1 expression marks the cardiac and lymphatic progenitor lineages during early stages of mouse development. Facucho-Oliveira J, et al. Int J Dev Biol, 2011. PMID 22252499
    5. CCBE1 is required for coronary vessel development and proper coronary artery stem formation in the mouse heart. Bonet F, et al. Dev Dyn, 2018 Oct. PMID 30204931

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. Ccbe1 has an essential role in lymphangiogenesis [review]
      Title: A fisheye view on lymphangiogenesis.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction

    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

    Homology

    Clone Names

    • KIAA1983, MGC118667

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    acts_upstream_of lymphatic endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    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 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 
    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 region 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)

    1. 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

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      66189926..66424909 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3MI99.2 GenPept UniProtKB/Swiss-Prot:Q3MI99

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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