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    Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 [ Mus musculus (house mouse) ]

    Gene ID: 215378, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Brinp3provided by MGI
    Official Full Name
    bone morphogenetic protein/retinoic acid inducible neural specific 3provided by MGI
    Primary source
    MGI:MGI:2443035
    See related
    Ensembl:ENSMUSG00000035131 AllianceGenome:MGI:2443035
    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
    Fam5c; B830045N13Rik
    Summary
    Involved in cellular response to retinoic acid; central nervous system neuron differentiation; and negative regulation of mitotic cell cycle. Acts upstream of or within exploration behavior; nervous system development; and social behavior. Predicted to be located in extracellular region and mitochondrion. Predicted to be active in cytoplasm; dendrite; and neuronal cell body. Is expressed in central nervous system; olfactory epithelium; and submandibular gland primordium. Human ortholog(s) of this gene implicated in coronary artery disease and myocardial infarction. Orthologous to human BRINP3 (BMP/retinoic acid inducible neural specific 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cortex adult (RPKM 5.2), CNS E18 (RPKM 5.1) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Brinp3 in Genome Data Viewer
    Location:
    1 F; 1 63.24 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (146371367..146778210)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (146495629..146902472)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_02558 Neighboring gene STARR-seq mESC enhancer starr_02559 Neighboring gene STARR-seq mESC enhancer starr_02560 Neighboring gene predicted gene 29514 Neighboring gene acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene Neighboring gene STARR-seq mESC enhancer starr_02561 Neighboring gene STARR-seq mESC enhancer starr_02562 Neighboring gene STARR-seq mESC enhancer starr_02563 Neighboring gene STARR-seq mESC enhancer starr_02565 Neighboring gene STARR-seq mESC enhancer starr_02566 Neighboring gene STARR-seq mESC enhancer starr_02567 Neighboring gene STARR-seq mESC enhancer starr_02569 Neighboring gene myosin IIIB pseudogene Neighboring gene STARR-seq mESC enhancer starr_02570 Neighboring gene STARR-seq mESC enhancer starr_02571 Neighboring gene STARR-seq mESC enhancer starr_02572 Neighboring gene STARR-seq mESC enhancer starr_02573 Neighboring gene predicted gene, 22966

    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 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. FAM5C is a soluble osteoblast differentiation factor linking muscle to bone. Tanaka K, et al. Biochem Biophys Res Commun, 2012 Feb 3. PMID 22245424
    2. Mice Lacking Brinp2 or Brinp3, or Both, Exhibit Behaviors Consistent with Neurodevelopmental Disorders. Berkowicz SR, et al. Front Behav Neurosci, 2016. PMID 27826231, Free PMC Article
    3. Analysis of the expression and function of BRINP family genes during neuronal differentiation in mouse embryonic stem cell-derived neural stem cells. Terashima M, et al. J Neurosci Res, 2010 May 15. PMID 20025061
    4. Systems genetic analysis of peripheral iron parameters in the mouse. Jones BC, et al. Am J Physiol Regul Integr Comp Physiol, 2007 Jul. PMID 17475678
    5. Genetic dissection of a behavioral quantitative trait locus shows that Rgs2 modulates anxiety in mice. Yalcin B, et al. Nat Genet, 2004 Nov. PMID 15489855

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM5C might be an important humoral bone anabolic factor produced from muscle cells.
      Title: FAM5C is a soluble osteoblast differentiation factor linking muscle to bone.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC40674, MGC107461

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to retinoic acid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in central nervous system neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in central nervous system neuron differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within exploration behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within social behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    BMP/retinoic acid-inducible neural-specific protein 3
    Names
    family with sequence similarity 5, member C
    protein FAM5C

    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_001145807.1 → NP_001139279.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001139279.1

      Status: VALIDATED

      Source sequence(s)
      AK046878, BC030498, CJ323385, CX199744
      Consensus CDS
      CCDS15351.1
      UniProtKB/Swiss-Prot
      Q499E0, Q8K0R9
      Related
      ENSMUSP00000126074.2, ENSMUST00000166814.8
      Conserved Domains (1) summary
      smart00457
      Location:79 → 263
      MACPF; membrane-attack complex / perforin

    2. NM_001357571.1 → NP_001344500.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AL592214, AL592450, AL592462, AL645793
      Consensus CDS
      CCDS15351.1
      UniProtKB/Swiss-Prot
      Q499E0, Q8K0R9
      Conserved Domains (1) summary
      smart00457
      Location:79 → 263
      MACPF; membrane-attack complex / perforin

    3. NM_001357572.1 → NP_001344501.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK083233, AL592214, BX529847, CX199744
      Conserved Domains (1) summary
      pfam19052
      Location:26 → 473
      BRINP; BMP/retinoic acid-inducible neural-specific protein

    4. NM_153539.3 → NP_705767.3  BMP/retinoic acid-inducible neural-specific protein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_705767.3

      Status: VALIDATED

      Source sequence(s)
      AK046878, BC030498, CJ323385
      Consensus CDS
      CCDS15351.1
      UniProtKB/Swiss-Prot
      Q499E0, Q8K0R9
      Related
      ENSMUSP00000074201.5, ENSMUST00000074622.11
      Conserved Domains (1) summary
      smart00457
      Location:79 → 263
      MACPF; membrane-attack complex / perforin

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      146371367..146778210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252958.1 → XP_030108818.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X2

      Conserved Domains (1) summary
      pfam19052
      Location:26 → 473
      BRINP; BMP/retinoic acid-inducible neural-specific protein

    2. XM_006529368.5 → XP_006529431.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X1

      See identical proteins and their annotated locations for XP_006529431.1

      UniProtKB/Swiss-Prot
      Q499E0, Q8K0R9
      Conserved Domains (1) summary
      smart00457
      Location:79 → 263
      MACPF; membrane-attack complex / perforin

    3. XM_006529367.5 → XP_006529430.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X1

      See identical proteins and their annotated locations for XP_006529430.1

      UniProtKB/Swiss-Prot
      Q499E0, Q8K0R9
      Conserved Domains (1) summary
      smart00457
      Location:79 → 263
      MACPF; membrane-attack complex / perforin

    4. XM_036163508.1 → XP_036019401.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X2

      Conserved Domains (1) summary
      pfam19052
      Location:26 → 473
      BRINP; BMP/retinoic acid-inducible neural-specific protein

    5. XM_036163510.1 → XP_036019403.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X2

      Conserved Domains (1) summary
      pfam19052
      Location:26 → 473
      BRINP; BMP/retinoic acid-inducible neural-specific protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q499E0.2 GenPept UniProtKB/Swiss-Prot:Q499E0

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