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

    Gene ID: 320924, updated on 9-Dec-2024

    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, Dec 2024]
    Expression
    Broad expression in adrenal adult (RPKM 8.2), ovary adult (RPKM 7.1) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Ccbe1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (5)  1 citation

    General gene information

    Markers

    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 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

    Preferred Names
    collagen and calcium-binding EGF domain-containing protein 1
    Names
    full of fluid protein homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_178793.4NP_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:135176
      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_036161177.1XP_036017070.1  collagen and calcium-binding EGF domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      pfam12662
      Location:322
      cEGF; Complement Clr-like EGF-like
    2. XM_036161176.1XP_036017069.1  collagen and calcium-binding EGF domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      pfam12662
      Location:322
      cEGF; Complement Clr-like EGF-like
    3. XM_006526021.5XP_006526084.1  collagen and calcium-binding EGF domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      smart00179
      Location:65106
      EGF_CA; Calcium-binding EGF-like domain