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    Cubn cubilin [ Mus musculus (house mouse) ]

    Gene ID: 65969, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cubnprovided by MGI
    Official Full Name
    cubilinprovided by MGI
    Primary source
    MGI:MGI:1931256
    See related
    Ensembl:ENSMUSG00000026726 AllianceGenome:MGI:1931256
    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
    D2Wsu88e
    Summary
    Predicted to enable cargo receptor activity; hemoglobin binding activity; and protein homodimerization activity. Acts upstream of or within several processes, including lipoprotein transport; receptor-mediated endocytosis; and response to bacterium. Located in several cellular components, including brush border; clathrin-coated pit; and cytoplasmic vesicle. Is active in microvillus membrane. Is expressed in several structures, including egg cylinder; embryo endoderm; genitourinary system; and midgut. Human ortholog(s) of this gene implicated in coronary artery disease. Orthologous to human CUBN (cubilin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in placenta adult (RPKM 57.5), kidney adult (RPKM 23.7) and 2 other tissues See more
    Orthologs
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    Genomic context

    See Cubn in Genome Data Viewer
    Location:
    2 A1; 2 9.86 cM
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (13281149..13496687, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (13276338..13491876, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene phosphotriesterase related Neighboring gene C1q-like 3 Neighboring gene Ras suppressor protein 1 Neighboring gene STARR-seq mESC enhancer starr_03699 Neighboring gene STARR-positive B cell enhancer ABC_E5887 Neighboring gene STARR-positive B cell enhancer ABC_E1000 Neighboring gene STARR-positive B cell enhancer ABC_E5888 Neighboring gene STARR-seq mESC enhancer starr_03701 Neighboring gene STARR-seq mESC enhancer starr_03702 Neighboring gene predicted gene 13270 Neighboring gene predicted gene, 57686 Neighboring gene STARR-seq mESC enhancer starr_03707 Neighboring gene STARR-positive B cell enhancer ABC_E11702 Neighboring gene STARR-seq mESC enhancer starr_03708 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:13466299-13466482 Neighboring gene tRNA aspartic acid methyltransferase 1 Neighboring gene predicted gene, 54102

    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 (2) 
    • Gene trapped (1) 
    • Targeted (4)  1 citation

    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 calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cargo receptor activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables cobalamin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables hemoglobin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi-associated vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in brush border membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in brush border membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated pit ISO
    Inferred from Sequence Orthology
    more info
     
    located_in coated vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endocytic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endocytic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosomal lumen ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in microvillus membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    cubilin
    Names
    intrinsic factor-cobalamin receptor

    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_001081084.2NP_001074553.1  cubilin precursor

      See identical proteins and their annotated locations for NP_001074553.1

      Status: VALIDATED

      Source sequence(s)
      AF197159, AK141391, AL773538, AL928807, CF165743, CF169457, CK390258, CK391058, CK391475, CK391977, CK623807
      Consensus CDS
      CCDS38048.1
      UniProtKB/Swiss-Prot
      B1AX10, Q9JLB4
      Related
      ENSMUSP00000089009.6, ENSMUST00000091436.7
      Conserved Domains (4) summary
      smart00179
      Location:260301
      EGF_CA; Calcium-binding EGF-like domain
      cd00041
      Location:26892800
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00054
      Location:432468
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam12947
      Location:306344
      EGF_3; EGF 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_000068.8 Reference GRCm39 C57BL/6J

      Range
      13281149..13496687 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)