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    Scube3 signal peptide, CUB domain, EGF-like 3 [ Mus musculus (house mouse) ]

    Gene ID: 268935, updated on 2-Nov-2024

    Summary

    Official Symbol
    Scube3provided by MGI
    Official Full Name
    signal peptide, CUB domain, EGF-like 3provided by MGI
    Primary source
    MGI:MGI:3045253
    See related
    Ensembl:ENSMUSG00000038677 AllianceGenome:MGI:3045253
    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
    CEGF3; D030038I21Rik
    Summary
    Predicted to enable BMP binding activity; BMP receptor binding activity; and identical protein binding activity. Involved in positive regulation of osteoblast differentiation. Acts upstream of or within positive regulation of smoothened signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in cell surface and extracellular space. Is expressed in several structures, including embryo ectoderm; embryo mesenchyme; integumental system; jaw; and sensory organ. Human ortholog(s) of this gene implicated in short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2. Orthologous to human SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in limb E14.5 (RPKM 8.4), CNS E11.5 (RPKM 7.4) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Scube3 in Genome Data Viewer
    Location:
    17 A3.3; 17 14.63 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (28361074..28393825)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (28142100..28174851)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and SAM domain containing 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:28144121-28144327 Neighboring gene predicted gene, 35290 Neighboring gene tRNA splicing endonuclease 34 pseudogene Neighboring gene STARR-seq mESC enhancer starr_42185 Neighboring gene STARR-positive B cell enhancer ABC_E4199 Neighboring gene t-complex protein 11 Neighboring gene VISTA enhancer mm1525 Neighboring gene zinc finger protein 523 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:28344631-28344740 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:28348857-28349040 Neighboring gene STARR-seq mESC enhancer starr_42195 Neighboring gene STARR-positive B cell enhancer ABC_E7505 Neighboring gene STARR-positive B cell enhancer ABC_E10940 Neighboring gene differentially expressed in FDCP 6

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables BMP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables BMP receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    signal peptide, CUB and EGF-like domain-containing protein 3

    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_001004366.2NP_001004366.1  signal peptide, CUB and EGF-like domain-containing protein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001004366.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC126937
      Consensus CDS
      CCDS37527.1
      UniProtKB/Swiss-Prot
      B2KF22, Q66PY1, Q68FG9
      UniProtKB/TrEMBL
      A0A3B2W867
      Related
      ENSMUSP00000038366.4, ENSMUST00000043503.11
      Conserved Domains (6) summary
      smart00179
      Location:357398
      EGF_CA; Calcium-binding EGF-like domain
      cd00041
      Location:804915
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam07699
      Location:696743
      GCC2_GCC3; GCC2 and GCC3
      pfam12947
      Location:3368
      EGF_3; EGF domain
      pfam14670
      Location:240275
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:313349
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    2. NM_001368734.1NP_001355663.1  signal peptide, CUB and EGF-like domain-containing protein 3 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC126937
      Conserved Domains (3) summary
      pfam12947
      Location:3368
      EGF_3; EGF domain
      pfam12662
      Location:93115
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:110150
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      28361074..28393825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524323.4XP_006524386.1  signal peptide, CUB and EGF-like domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_006524386.1

      UniProtKB/TrEMBL
      A0A3B2W867, A0A3B2WCG9
      Related
      ENSMUSP00000156515.2, ENSMUST00000137147.9
      Conserved Domains (5) summary
      smart00179
      Location:334363
      EGF_CA; Calcium-binding EGF-like domain
      cd00041
      Location:820931
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam07699
      Location:712759
      Ephrin_rec_like; Putative ephrin-receptor like
      pfam12947
      Location:3368
      EGF_3; EGF domain
      pfam14670
      Location:256291
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. XM_006524324.3XP_006524387.1  signal peptide, CUB and EGF-like domain-containing protein 3 isoform X2

      See identical proteins and their annotated locations for XP_006524387.1

      UniProtKB/TrEMBL
      A0A3B2W867
      Conserved Domains (5) summary
      smart00179
      Location:334363
      EGF_CA; Calcium-binding EGF-like domain
      cd00041
      Location:766877
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam07699
      Location:658705
      Ephrin_rec_like; Putative ephrin-receptor like
      pfam12947
      Location:3368
      EGF_3; EGF domain
      pfam14670
      Location:256291
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    3. XM_030249829.1XP_030105689.1  signal peptide, CUB and EGF-like domain-containing protein 3 isoform X3

      UniProtKB/TrEMBL
      A0A3B2W867
      Related
      ENSMUSP00000117490.3, ENSMUST00000132670.3
      Conserved Domains (5) summary
      smart00179
      Location:318347
      EGF_CA; Calcium-binding EGF-like domain
      cd00041
      Location:750861
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam07699
      Location:642689
      Ephrin_rec_like; Putative ephrin-receptor like
      pfam12947
      Location:3368
      EGF_3; EGF domain
      pfam14670
      Location:240275
      FXa_inhibition; Coagulation Factor Xa inhibitory site