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MMRN1 Gene

protein-coding   GIFtS: 59
GCID: GC04P090800

Multimerin 1

(Previous name: multimerin)
(Previous symbol: MMRN)
  See MMRN1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Multimerin 11 2     EMILIN-42 3
MMRN1 2 3     EMILIN42 3
Glycoprotein Ia*1 2     multimerin1
Elastin Microfibril Interface Located Protein 42 3     GPIa*2
Elastin Microfibril Interfacer 42 3     multimerin-12
Endothelial Cell Multimerin2 3     GPIA*3
ECM2 3     

External Ids:    HGNC: 71781   Entrez Gene: 229152   Ensembl: ENSG000001387227   OMIM: 6014565   UniProtKB: Q132013   

Export aliases for MMRN1 gene to outside databases

Previous GC identifers: GC04P091275 GC04P091173 GC04P091035 GC04P086567


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MMRN1 Gene:
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)

GeneCards Summary for MMRN1 Gene:
MMRN1 (multimerin 1) is a protein-coding gene. Diseases associated with MMRN1 include quebec platelet disorder. An important paralog of this gene is MMRN2.

UniProtKB/Swiss-Prot: MMRN1_HUMAN, Q13201
Function: Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization
of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor
Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated
platelets, and may function as an extracellular matrix or adhesive protein

Gene Wiki entry for MMRN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MMRN1 gene promoter:
         GR   CUTL1   IRF-1   RORalpha2   CREB   PPAR-gamma1   S8   deltaCREB   GR-alpha   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMMRN1 promoter sequence
   Search Chromatin IP Primers for MMRN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MMRN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q22   Ensembl cytogenetic band:  4q22.1   HGNC cytogenetic band: 4q22

MMRN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MMRN1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P090800:  view genomic region     (about GC identifiers)

Start:
90,800,683 bp from pter      End:
90,875,780 bp from pter
Size:
75,098 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MMRN1_HUMAN, Q13201 (See protein sequence)
Recommended Name: Multimerin-1 precursor  
Size: 1228 amino acids; 138110 Da
Subunit: Multimeric. Composed of varying sized, disulfide-linked multimers, the smallest of which is a homotrimer.
Proteolysis of the promultimerin in the N-terminal region, leads to the mature p155 form that is stored in
platelets. Interacts with factor V/Va
Secondary accessions: Q4W5L1 Q6P3T8 Q6ZUL9
Alternative splicing: 2 isoforms:  Q13201-1   Q13201-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MMRN1: NX_Q13201

Explore proteomics data for MMRN1 at MOPED

Post-translational modifications: 

  • The N-terminus is blocked1
  • Extensively N-glycosylated1
  • Glycosylation2 at Asn21, Asn97, Asn114, Asn120, Asn136, Asn344, Asn431, Asn507, Asn541, Asn576,
                                 Asn618, Asn680, Asn729, Asn783, Asn816, Asn828, Asn840, Asn921, Asn933, Asn942 (see all 23)
  • Modification sites at PhosphoSitePlus

  • See MMRN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_031377.2  
    ENSEMBL proteins: 
     ENSP00000378431   ENSP00000426461   ENSP00000264790   ENSP00000378432  
    Reactome Protein details: Q13201

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EMID: EMI domain containing

    Selected InterPro protein domains (see all 6):
     IPR000742 EG-like_dom
     IPR011489 EMI_domain
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR013032 EGF-like_CS
     IPR008983 Tumour_necrosis_fac-like_dom

    Graphical View of Domain Structure for InterPro Entry Q13201

    ProtoNet protein and cluster: Q13201

    4 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001073 Complement C1q protein
    IPB006210 Type I EGF
    IPB011489 EMI


    UniProtKB/Swiss-Prot: MMRN1_HUMAN, Q13201
    Similarity: Contains 1 C1q domain
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 EMI domain


    Find genes that share domains with MMRN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MMRN1_HUMAN, Q13201
    Function: Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization
    of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor
    Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated
    platelets, and may function as an extracellular matrix or adhesive protein

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with MMRN1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MMRN1:
     Increased homologous recombina 

         1 MGI phenotypic allele for Mmrn1 (no phenotypes)

    Find genes that share phenotypes with MMRN1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MMRN1
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    hsa-miR-3671 hsa-miR-579 hsa-miR-576-3p hsa-miR-577 hsa-miR-495 hsa-miR-607 hsa-miR-7-2* hsa-miR-374b
    SwitchGear 3'UTR luciferase reporter plasmidMMRN1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MMRN1_HUMAN, Q13201: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    mitochondrion2
    cytosol1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0031093platelet alpha granule lumen TAS--

    Find genes that share ontologies with MMRN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MMRN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    2Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43


    Find genes that share SuperPaths with MMRN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for MMRN1
        Platelet degranulation


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MMRN1
    Interactions:

        GeneGlobe Interaction Network for MMRN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MMRN1 (Q132013 ENSP000002647904) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDKN2AP427713, ENSP000003551534I2D: score=1 I2D: score=1 STRING: ENSP00000355153
    F5P122593, ENSP000003567714I2D: score=1 STRING: ENSP00000356771
    APCP250543I2D: score=1 
    A2MENSP000003239294STRING: ENSP00000323929
    ALBENSP000002958974STRING: ENSP00000295897
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0007155cell adhesion TAS9189649
    GO:0007596blood coagulation TAS--
    GO:0030168platelet activation TAS--

    Find genes that share ontologies with MMRN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MMRN1

    5 Novoseek inferred chemical compound relationships for MMRN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chondroitin sulfate 37.3 1 2186487 (1)
    okt3 35.9 2 9840680 (1), 10736113 (1)
    fibrinogen 26.5 4 8652809 (2), 9028947 (1), 16268476 (1)
    epinephrine 17.7 4 9028947 (2), 8652809 (2)
    leucine 1.42 1 10625608 (1)



    Find genes that share compounds with MMRN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MMRN1 gene: 
    NM_007351.2  

    Unigene Cluster for MMRN1:

    Multimerin 1
    Hs.268107  [show with all ESTs]
    Unigene Representative Sequence: NM_007351
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394980(uc010iku.3 uc003hst.3 uc011cds.2) ENST00000508372
    ENST00000506328 ENST00000264790 ENST00000394981
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MMRN1 (see all 15):
    hsa-miR-3671 hsa-miR-579 hsa-miR-576-3p hsa-miR-577 hsa-miR-495 hsa-miR-607 hsa-miR-7-2* hsa-miR-374b
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      QuantiFast Probe-based Assays in human, mouse, rat MMRN1

    Additional mRNA sequence: 

    AK125557.1 AK302421.1 AK313566.1 BC063848.1 U27109.1 

    5 DOTS entries:

    DT.216129  DT.101980775  DT.121240292  DT.99962516  DT.97824620 

    Selected AceView cDNA sequences (see all 87):

    AA442635 NM_007351 AA187212 AA913011 AA302153 AA436877 AA904459 AA969675 
    BM127039 W76641 BM129302 AI140846 CF541032 BX117547 AI129673 AA423867 
    AA344284 AA257095 U27109 AK125557 AA778014 AA678225 AA382782 BE501642 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MMRN1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:                                            -                     
    SP2:                                                                  


    ECgene alternative splicing isoforms for MMRN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MMRN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTAAAAATA
    MMRN1 Expression
    About this image


    MMRN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Kidney (Urinary System)    fully expand to see all 7 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Mature Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Mature Endothelial Cells Blood Brain Barrier
             Human umbilical vein endothelial cells (HUVEC)
     
     Epithelial Cells
             Proximal Tubule Cells Proximal Tubule
    MMRN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MMRN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.268107

    UniProtKB/Swiss-Prot: MMRN1_HUMAN, Q13201
    Tissue specificity: Synthesized by endothelial cells and megakaryocytes. Stored in platelet alpha granules and
    endothelial cell Weibel-Palade bodies, following activation of these cells, it is released and attached to
    megakaryocytes, platelets, endothelium and subendothelium of blood vessels. Not found in plasma. Found in
    vascular tissues such as placenta, lung, and liver

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMRN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MMRN1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mmrn11 , 5 multimerin 11, 5 74.57(n)1
    66.69(a)1
      6 (29.22 cM)5
    709451  NM_027613.11  NP_081889.11 
     609249765 
    chicken
    (Gallus gallus)
    Aves MMRN11 multimerin 1 60.77(n)
    49.2(a)
      428741  XM_004941034.1  XP_004941091.1 
    lizard
    (Anolis carolinensis)
    Reptilia MMRN16
    multimerin 1
    48(a)
    1 ↔ 1
    5(46328774-46399041)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mmrn11 multimerin 1 58.5(n)
    46.83(a)
      100491919  XM_002943194.2  XP_002943240.2 
    zebrafish
    (Danio rerio)
    Actinopterygii mmrn2b6
    mmrn2a6
    multimerin 2a
    15(a)
    14(a)
    many ↔ many
    many ↔ many
    12(27505876-27522325) ENSDARG00000073711
    13(22759896-22786346) ENSDARG00000076135


    ENSEMBL Gene Tree for MMRN1 (if available)
    TreeFam Gene Tree for MMRN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MMRN1 gene
    MMRN22  
    1 SIMAP similar gene for MMRN1 using alignment to 2 protein entries:     MMRN1_HUMAN (see all proteins):
    SNED1

    Find genes that share paralogs with MMRN1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MMRN1 (see all 1329)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs339788591,2
    C--86625091(+) AAGAA-/CAAATA 1 -- int10--------
    rs1494872521,2
    --90622165(+) TAGTTC/TCTTCT 1 -- us2k10--------
    rs1438560621,2
    --90622193(+) ACACTC/GTAAAG 1 -- us2k10--------
    rs1482010441,2
    --90622283(+) TAATCA/GTTTCC 1 -- us2k10--------
    rs772627721,2
    C,F--90622321(+) TCCTTT/CACTAA 1 -- us2k12Minor allele frequency- C:0.07NA 122
    rs1413329371,2
    --90622393(+) AGAGTC/TGATTG 1 -- us2k10--------
    rs785372881,2
    C,F--90622426(+) TTTAAA/GTAAAT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1508085271,2
    --90622508(+) CCCAAA/GTAGTT 1 -- us2k10--------
    rs1133609551,2
    C,F--90622557(+) GGTGCA/CCTGTG 1 -- us2k12Minor allele frequency- C:0.04NA 122
    rs1161990381,2
    F--90622610(+) ACCAAG/ACAGGC 1 -- us2k11Minor allele frequency- A:0.04WA 118

    HapMap Linkage Disequilibrium report for MMRN1 (90800683 - 90875780 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MMRN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663326CNV Deletion23128226
    nsv4418CNV Insertion18451855
    nsv516189CNV Loss19592680
    nsv830005CNV Loss17160897
    nsv461576CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MMRN1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601456    OMIM disorders: --

    UniProtKB/Swiss-Prot: MMRN1_HUMAN, Q13201
  • Note=Deficiency in multimerin-1 due to proteolytic degradation within the platelet alpha granules is
    associated with an autosomal dominant bleeding disorder (factor V Quebec)

  • 1 disease for MMRN1:    
    About MalaCards
    quebec platelet disorder


    Find genes that share disorders with MMRN1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MMRN1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    quebec platelet disorder 88.6 2 8652809 (2)
    platelet disorder 52.7 2 8652809 (2)
    coagulopathy 31.8 2 9028947 (1), 8652809 (1)
    stroke 16.8 5 17890945 (1), 18608122 (1), 10884464 (1), 11703818 (1)
    thrombosis 16.2 2 17164499 (1), 16380674 (1)
    vascular diseases 15.2 1 10583259 (1)
    thrombocytopenia 8.92 1 16525577 (1)
    myocardial infarction 7.11 3 17164499 (1), 11703818 (1), 17157856 (1)
    asthma 0 4 11236132 (2), 16456242 (2)
    inflammation 0 1 16456242 (1)

    Genetic Association Database (GAD): MMRN1
    Human Genome Epidemiology (HuGE) Navigator: MMRN1 (3 documents)

    Export disorders for MMRN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MMRN1 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with MMRN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 7629143)1, 2, 3, 9 Hayward C.P.M.... Kelton J.G. (J. Biol. Chem. 1995)
    2. Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation. (PubMed id 19132231)1, 2, 9 Jeimy S.B.... Hayward C.P.M. (Thromb. Haemost. 2008)
    3. Analyses of cellular multimerin 1 receptors: in vitro evidence of binding mediated by alphaIIbbeta3 and alphavbeta3. (PubMed id 16363244)1, 2, 9 Adam F....Hayward C.P.M. (Thromb. Haemost. 2005)
    4. Multimerin is found in the alpha-granules of resting platelets and is synthesized by a megakaryocytic cell line. (PubMed id 8514871)1, 2, 9 Hayward C.P.M.... Kelton J.G. (J. Clin. Invest. 1993)
    5. Platelet glycoprotein Ia* is the processed form of multimerin -- isolation and determination of N-terminal sequences of stored and released forms. (PubMed id 9798985)1, 2, 9 Polgar J.... Clemetson K.J. (Thromb. Haemost. 1998)
    6. An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect. (PubMed id 8652809)1, 2, 9 Hayward C.P.M.... Kelton J.G. (Blood 1996)
    7. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2, 9 Lewandrowski U.... Sickmann A. (Mol. Cell. Proteomics 2006)
    8. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PubMed id 19915575)1, 4 SimA^n-SA!nchez J....Gasser T. (Nat. Genet. 2009)
    9. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    10. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. (PubMed id 15849733)1, 4 Mangold E....Propping P. (Int. J. Cancer 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 22915 HGNC: 7178 AceView: MMRN1 Ensembl:ENSG00000138722 euGenes: HUgn22915
    ECgene: MMRN1 H-InvDB: MMRN1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MMRN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MMRN1 gene:
    Search GeneIP for patents involving MMRN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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