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    MMRN1 multimerin 1 [ Homo sapiens (human) ]

    Gene ID: 22915, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MMRN1provided by HGNC
    Official Full Name
    multimerin 1provided by HGNC
    Primary source
    HGNC:HGNC:7178
    See related
    Ensembl:ENSG00000138722 MIM:601456; AllianceGenome:HGNC:7178
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ECM; MMRN; GPIa*; EMILIN4
    Summary
    Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 19.8), gall bladder (RPKM 14.4) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MMRN1 in Genome Data Viewer
    Location:
    4q22.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (89879511..89954614)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (93210758..93285868)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (90800662..90875765)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900856 Neighboring gene MPRA-validated peak5070 silencer Neighboring gene synuclein alpha Neighboring gene SNCA antisense RNA 1 Neighboring gene VISTA enhancer hs1374 Neighboring gene uncharacterized LOC105377331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15572 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:91105702-91106205 Neighboring gene coiled-coil serine rich protein 1 Neighboring gene Sharpr-MPRA regulatory region 11449 Neighboring gene RN7SK pseudogene 248

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The cDNA sequence of human endothelial cell multimerin. A unique protein with RGDS, coiled-coil, and epidermal growth factor-like domains and a carboxyl terminus similar to the globular domain of complement C1q and collagens type VIII and X. Hayward CP, et al. J Biol Chem, 1995 Aug 4. PMID 7629143
    2. Location of the multimerin 1 binding site in coagulation factor V: an update. Jeimy SB, et al. Thromb Res, 2008. PMID 18452976, Free PMC Article
    3. Analysis of the Healthy Platelet Proteome Identifies a New Form of Domain-Specific O-Fucosylation. Houlahan CB, et al. Mol Cell Proteomics, 2024 Feb. PMID 38237698, Free PMC Article
    4. Analyses of cellular multimerin 1 receptors: in vitro evidence of binding mediated by alphaIIbbeta3 and alphavbeta3. Adam F, et al. Thromb Haemost, 2005 Nov. PMID 16363244
    5. Multimerin-1 (MMRN1) as Novel Adverse Marker in Pediatric Acute Myeloid Leukemia: A Report from the Children's Oncology Group. Laszlo GS, et al. Clin Cancer Res, 2015 Jul 15. PMID 25825478, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Multimerin 1 aids in the progression of ovarian cancer possibly via modulation of DNA damage response and repair pathways.
      Title: Multimerin 1 aids in the progression of ovarian cancer possibly via modulation of DNA damage response and repair pathways.
    2. Analysis of Multimerin 1 (MMRN1) expression in ovarian cancer.
      Title: Analysis of Multimerin 1 (MMRN1) expression in ovarian cancer.
    3. MMRN1 expression in healthy human palatal mucosa is strongly negatively correlated with serum cotinine levels.
      Title: Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.
    4. VWF binding to MMRN1 was enhanced by shear exposure and ristocetin, and required VWF A1A2A3 region, specifically the A1 and A3 domains.
      Title: The functions of the A1A2A3 domains in von Willebrand factor include multimerin 1 binding.
    5. Lower levels of anti-elastin are related to CAD [ coronary artery disease ]
      Title: Circulating Anti-Elastin Antibody Levels and Arterial Disease Characteristics: Associations with Arterial Stiffness and Atherosclerosis.
    6. our studies identify MMRN1 expression as a novel biomarker that may refine acute myelogenous leukemia risk stratification.
      Title: Multimerin-1 (MMRN1) as Novel Adverse Marker in Pediatric Acute Myeloid Leukemia: A Report from the Children's Oncology Group.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Replication of GWAS associations for GAK and MAPT in Parkinson's disease.
    8. MMRN1 supported the adhesion of activated, but not resting, washed platelets over a wide range of shear rates
      Title: Platelet adhesion to multimerin 1 in vitro: influences of platelet membrane receptors, von Willebrand factor and shear.
    9. The MMRN1 binding site was located in Factor V.
      Title: Location of the multimerin 1 binding site in coagulation factor V: an update.
    10. Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation.
      Title: Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    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 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of wound healing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of platelet aggregation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    part_of multimerin complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in platelet alpha granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    multimerin-1
    Names
    elastin microfibril interface located protein 4
    elastin microfibril interfacer 4
    endothelial cell multimerin
    glycoprotein Ia*

    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.

    Genomic

    1. NG_032895.2 RefSeqGene

      Range
      20323..80083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_634

    mRNA and Protein(s)

    1. NM_001371403.1 → NP_001358332.1  multimerin-1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC093759
      Consensus CDS
      CCDS3635.1
      UniProtKB/Swiss-Prot
      Q13201, Q4W5L1, Q6P3T8, Q6ZUL9
      Related
      ENSP00000378431.1, ENST00000394980.5
      Conserved Domains (5) summary
      TIGR01612
      Location:676 → 873
      235kDa-fam; reticulocyte binding/rhoptry protein
      cd00054
      Location:1045 → 1077
      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 ...
      pfam15921
      Location:296 → 743
      CCDC158; Coiled-coil domain-containing protein 158
      pfam07546
      Location:209 → 276
      EMI; EMI domain
      cl23878
      Location:1094 → 1228
      C1q; C1q domain

    2. NM_001410735.1 → NP_001397664.1  multimerin-1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093759
      Consensus CDS
      CCDS93560.1
      UniProtKB/TrEMBL
      E7EPG1
      Related
      ENSP00000426461.1, ENST00000508372.1

    3. NM_007351.3 → NP_031377.2  multimerin-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_031377.2

      Status: REVIEWED

      Source sequence(s)
      AC093759, AK125557, BC063848, BM126740, U27109
      Consensus CDS
      CCDS3635.1
      UniProtKB/Swiss-Prot
      Q13201, Q4W5L1, Q6P3T8, Q6ZUL9
      Related
      ENSP00000264790.2, ENST00000264790.7
      Conserved Domains (5) summary
      TIGR01612
      Location:676 → 873
      235kDa-fam; reticulocyte binding/rhoptry protein
      cd00054
      Location:1045 → 1077
      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 ...
      pfam15921
      Location:296 → 743
      CCDC158; Coiled-coil domain-containing protein 158
      pfam07546
      Location:209 → 276
      EMI; EMI domain
      cl23878
      Location:1094 → 1228
      C1q; C1q domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      89879511..89954614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449831.1 → XP_047305787.1  multimerin-1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      93210758..93285868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13201.3 GenPept UniProtKB/Swiss-Prot:Q13201

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