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    Mmrn1 multimerin 1 [ Mus musculus (house mouse) ]

    Gene ID: 70945, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mmrn1provided by MGI
    Official Full Name
    multimerin 1provided by MGI
    Primary source
    MGI:MGI:1918195
    See related
    Ensembl:ENSMUSG00000054641 AllianceGenome:MGI:1918195
    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
    Mmrn; Emilin4; 4921530G03Rik
    Summary
    Predicted to enable extracellular matrix constituent conferring elasticity. Involved in negative regulation of wound healing and positive regulation of platelet aggregation. Located in collagen-containing extracellular matrix. Is expressed in several structures, including cardiovascular system; embryo mesenchyme; genitourinary system; hemolymphoid system gland; and meninges. Orthologous to human MMRN1 (multimerin 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bladder adult (RPKM 3.6), liver E14 (RPKM 2.2) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mmrn1 in Genome Data Viewer
    Location:
    6 B3; 6 29.22 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (60921301..60966362)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (60944317..60989378)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_16059 Neighboring gene STARR-seq mESC enhancer starr_16060 Neighboring gene STARR-seq mESC enhancer starr_16061 Neighboring gene predicted gene, 35386 Neighboring gene MAGE family member B16, pseudogene 2 Neighboring gene STARR-seq mESC enhancer starr_16062 Neighboring gene STARR-seq mESC enhancer starr_16063 Neighboring gene synuclein, alpha Neighboring gene STARR-seq mESC enhancer starr_16065 Neighboring gene STARR-seq mESC enhancer starr_16066 Neighboring gene STARR-seq mESC enhancer starr_16068 Neighboring gene protein phosphatase 6, catalytic subunit pseudogene Neighboring gene STARR-seq mESC enhancer starr_16076 Neighboring gene RIKEN cDNA A730020E08 gene Neighboring gene coiled-coil serine rich 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 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. Multimerin 1 supports platelet function in vivo and binds to specific GPAGPOGPX motifs in fibrillar collagens that enhance platelet adhesion. Leatherdale A, et al. J Thromb Haemost, 2021 Feb. PMID 33179420, Free PMC Article
    2. Mice with deleted multimerin 1 and alpha-synuclein genes have impaired platelet adhesion and impaired thrombus formation that is corrected by multimerin 1. Reheman A, et al. Thromb Res, 2010 May. PMID 20138333
    3. Bone loss in C57BL/6J-OlaHsd mice, a substrain of C57BL/6J carrying mutated alpha-synuclein and multimerin-1 genes. Liron T, et al. J Cell Physiol, 2018 Jan. PMID 28266709
    4. Increased Expression of the Multimerin-1 Gene in α-Synuclein Knokout Mice. Chaprov KD, et al. Dokl Biol Sci, 2020 Sep. PMID 33083886
    5. Deletion of multimerin-1 in alpha-synuclein-deficient mice. Specht CG, et al. Genomics, 2004 Jun. PMID 15177571

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Multimerin 1 supports platelet function in vivo and binds to specific GPAGPOGPX motifs in fibrillar collagens that enhance platelet adhesion.
      Title: Multimerin 1 supports platelet function in vivo and binds to specific GPAGPOGPX motifs in fibrillar collagens that enhance platelet adhesion.
    2. Increased Expression of the Multimerin-1 Gene in alpha-Synuclein Knokout Mice.
      Title: Increased Expression of the Multimerin-1 Gene in α-Synuclein Knokout Mice.
    3. C57BL/6J-OlaHsd mice, a substrain of C57BL/6J carrying mutated alpha-synuclein and multimerin-1 genes, have an altered bone phenotype.
      Title: Bone loss in C57BL/6J-OlaHsd mice, a substrain of C57BL/6J carrying mutated alpha-synuclein and multimerin-1 genes.
    4. Our data suggest that multimerin 1 supports platelet adhesive functions and thrombus formation, which will be important to verify by generating and testing selective multimerin 1 deficient mice.
      Title: Mice with deleted multimerin 1 and alpha-synuclein genes have impaired platelet adhesion and impaired thrombus formation that is corrected by multimerin 1.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables extracellular matrix constituent conferring elasticity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion mediated by integrin ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of wound healing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of wound healing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of platelet aggregation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of platelet aggregation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of multimerin complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in platelet alpha granule ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    multimerin-1

    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_001163507.1 → NP_001156979.1  multimerin-1 isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
      Source sequence(s)
      AK014984, AK036724, AK137556, BB035031
      Consensus CDS
      CCDS85058.1
      UniProtKB/Swiss-Prot
      B2RPV6, Q6KDN2, Q80VQ7, Q9D5S2
      UniProtKB/TrEMBL
      A0A0N4SVL8
      Related
      ENSMUSP00000145156.2, ENSMUST00000204333.2
      Conserved Domains (4) summary
      PRK12495
      Location:32 → 170
      PRK12495; hypothetical protein; Provisional
      cd00054
      Location:1026 → 1058
      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 ...
      pfam07546
      Location:194 → 261
      EMI; EMI domain
      cl23878
      Location:1075 → 1209
      C1q; C1q domain

    2. NM_027613.1 → NP_081889.1  multimerin-1 isoform a precursor

      See identical proteins and their annotated locations for NP_081889.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK014984, AK036724, AK137556, BB035031
      Consensus CDS
      CCDS51799.1
      UniProtKB/Swiss-Prot
      B2RPV6, Q6KDN2, Q80VQ7, Q9D5S2
      UniProtKB/TrEMBL
      G3UVV6
      Related
      ENSMUSP00000119609.2, ENSMUST00000129603.4
      Conserved Domains (4) summary
      PRK12495
      Location:32 → 170
      PRK12495; hypothetical protein; Provisional
      cd00054
      Location:1027 → 1059
      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 ...
      pfam07546
      Location:194 → 261
      EMI; EMI domain
      cl23878
      Location:1076 → 1210
      C1q; C1q 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_000072.7 Reference GRCm39 C57BL/6J

      Range
      60921301..60966362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B2RPV6.2 GenPept UniProtKB/Swiss-Prot:B2RPV6

    Gene LinkOut

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