MMRN1 Gene (Protein Coding)

Multimerin 1

GC04P089879
GIFtS:
41
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 adh... See more...

Aliases for MMRN1 Gene

Aliases for MMRN1 Gene

  • Multimerin 1 2 3 5
  • EMILIN4 2 3 4
  • ECM 2 3 4
  • Elastin Microfibril Interface Located Protein 4 3 4
  • Elastin Microfibril Interfacer 4 3 4
  • Endothelial Cell Multimerin 3 4
  • Glycoprotein Ia* 2 3
  • Multimerin-1 3 4
  • EMILIN-4 3 4
  • GPIa* 2 3
  • MMRN 3 4
  • Multimerin 2
  • MMRN1 5
  • GPIA* 4

External Ids for MMRN1 Gene

Previous HGNC Symbols for MMRN1 Gene

  • MMRN

Previous GeneCards Identifiers for MMRN1 Gene

  • GC04P091275
  • GC04P091173
  • GC04P091035
  • GC04P090800
  • GC04P086567

Summaries for MMRN1 Gene

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 and Blood Platelet Disease. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EMILIN2.

UniProtKB/Swiss-Prot Summary for MMRN1 Gene

  • 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

Additional gene information for MMRN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MMRN1 Gene

Genomics for MMRN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MMRN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J089894 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 274.8 +18.6 18578 7.9 CTCF EBF1 SMC3 RAD21 JUND BHLHE40 ELF1 IKZF1 NR2F1 HDGF MMRN1 SNCA HSALNG0035799 CCSER1
GH04J089879 Promoter 0.3 EPDnew 250.7 -0.1 -71 0.1 MMRN1 SNCA
GH04J089878 Enhancer 0.3 Ensembl 250.7 -0.7 -710 0.4 CEBPB MMRN1 SNCA
GH04J089888 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 14.7 +10.2 10168 1.8 IKZF1 MBD2 REST TAL1 SMARCA4 STAT5A FOXM1 TCF12 MTA2 CHAMP1 MMRN1 HSALNG0035799 CCSER1
GH04J089752 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 12.6 -125.9 -125910 2.8 FEZF1 ZEB1 CEBPB ZNF639 EP300 ZNF341 CTBP1 ZNF843 STAT3 JUND MMRN1 SNCA ENSG00000276542 ENSG00000277695 lnc-GPRIN3-4 GPRIN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MMRN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MMRN1

Top Transcription factor binding sites by QIAGEN in the MMRN1 gene promoter:
  • CREB
  • CUTL1
  • deltaCREB
  • GR
  • GR-alpha
  • IRF-1
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha2
  • S8

Genomic Locations for MMRN1 Gene

Latest Assembly
chr4:89,879,511-89,954,629
(GRCh38/hg38)
Size:
75,119 bases
Orientation:
Plus strand

Previous Assembly
chr4:90,800,662-90,875,765
(GRCh37/hg19 by Entrez Gene)
Size:
75,104 bases
Orientation:
Plus strand

chr4:90,800,683-90,875,780
(GRCh37/hg19 by Ensembl)
Size:
75,098 bases
Orientation:
Plus strand

Genomic View for MMRN1 Gene

Genes around MMRN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMRN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMRN1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MMRN1 Gene

Proteins for MMRN1 Gene

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  1. Antibodies for research
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  3. Assay products for research

  • Protein details for MMRN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13201-MMRN1_HUMAN
    Recommended name:
    Multimerin-1
    Protein Accession:
    Q13201
    Secondary Accessions:
    • Q4W5L1
    • Q6P3T8
    • Q6ZUL9

    Protein attributes for MMRN1 Gene

    Size:
    1228 amino acids
    Molecular mass:
    138110 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for MMRN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MMRN1 Gene

Protein Expression for MMRN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MMRN1 Gene

  • The N-terminus is blocked.
  • Extensively N-glycosylated.
  • Glycosylation at Asn21, Asn114, Asn120, Asn97, Asn136, Asn209, Asn344, Asn1075, Asn431, Asn507, Asn541, Asn576, Asn618, Asn680, Asn729, Asn783, Asn816, Asn828, Asn840, Asn921, Asn933, Asn942, Asn981, and Asn1020
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MMRN1_HUMAN (668)

Other Protein References for MMRN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MMRN1 Gene

Domains & Families for MMRN1 Gene

Gene Families for MMRN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for MMRN1 Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • Type I EGF
  • Complement C1q protein
  • EMI
ProtoNet:

Suggested Antigen Peptide Sequences for MMRN1 Gene

GenScript: Design optimal peptide antigens:
  • Endothelial cell multimerin (MMRN1_HUMAN)
genes like me logo Genes that share domains with MMRN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MMRN1 Gene

Function for MMRN1 Gene

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  6. Cell Lines for research

Molecular function for MMRN1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MMRN1 Gene

Gene Ontology (GO) - Molecular Function for MMRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent RCA 23979707
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,IPI 26627825
genes like me logo Genes that share ontologies with MMRN1: view
genes like me logo Genes that share phenotypes with MMRN1: view

Animal Models for MMRN1 Gene

MGI Knock Outs for MMRN1:
  • Mmrn1 Mmrn1<tm1b(EUCOMM)Hmgu>

Animal Models for research

miRNA for MMRN1 Gene

miRTarBase miRNAs that target MMRN1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMRN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MMRN1 Gene

Localization for MMRN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMRN1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MMRN1 gene
Compartment Confidence
extracellular 4
plasma membrane 2
mitochondrion 2
cytoskeleton 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MMRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0031093 platelet alpha granule lumen TAS --
GO:0062023 collagen-containing extracellular matrix HDA 23979707
genes like me logo Genes that share ontologies with MMRN1: view

Pathways & Interactions for MMRN1 Gene

genes like me logo Genes that share pathways with MMRN1: view

Gene Ontology (GO) - Biological Process for MMRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007155 cell adhesion TAS 9189649
GO:0007596 blood coagulation IEA --
genes like me logo Genes that share ontologies with MMRN1: view

No data available for SIGNOR curated interactions for MMRN1 Gene

Drugs & Compounds for MMRN1 Gene

Products:

  1. Drug products for research

(3) Drugs for MMRN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for MMRN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MMRN1: view

Transcripts for MMRN1 Gene

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mRNA/cDNA for MMRN1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMRN1

Alternative Splicing Database (ASD) splice patterns (SP) for MMRN1 Gene

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

Relevant External Links for MMRN1 Gene

GeneLoc Exon Structure for
MMRN1

Expression for MMRN1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MMRN1 Gene

mRNA expression in normal human tissues for MMRN1 Gene
mRNA expression by GTEx for MMRN1 GenemRNA expression by BioGPS for MMRN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MMRN1 Gene

This gene is overexpressed in Thyroid (x4.7).

Protein differential expression in normal tissues from HIPED for MMRN1 Gene

This gene is overexpressed in Platelet (24.6), Monocytes (18.7), Peripheral blood mononuclear cells (14.5), and Serum (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MMRN1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MMRN1

SOURCE GeneReport for Unigene cluster for MMRN1 Gene:

Hs.268107

mRNA Expression by UniProt/SwissProt for MMRN1 Gene:

Q13201-MMRN1_HUMAN
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.

Evidence on tissue expression from TISSUES for MMRN1 Gene

  • Blood(4.7)
  • Heart(4.4)
  • Liver(4.3)
  • Nervous system(4.3)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with MMRN1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MMRN1 Gene

Orthologs for MMRN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MMRN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MMRN1 30 31
  • 99.02 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MMRN1 30 31
  • 86.58 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MMRN1 30 31
  • 83.24 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mmrn1 30
  • 75.47 (n)
Mouse
(Mus musculus)
 Mammalia Mmrn1 30 17 31
  • 74.57 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MMRN1 31
  • 54 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MMRN1 30 31
  • 60.77 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MMRN1 31
  • 48 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mmrn1 30
  • 58.5 (n)
Zebrafish
(Danio rerio)
 Actinopterygii mmrn2b 31
  • 15 (a)
 ManyToMany
mmrn2a 31
  • 14 (a)
 ManyToMany
Species where no ortholog for MMRN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MMRN1 Gene

ENSEMBL:
Gene Tree for MMRN1 (if available)
TreeFam:
Gene Tree for MMRN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MMRN1: view image

Paralogs for MMRN1 Gene

Paralogs for MMRN1 Gene

(1) SIMAP similar genes for MMRN1 Gene using alignment to 2 proteins:

  • MMRN1_HUMAN
  • E7EPG1_HUMAN
genes like me logo Genes that share paralogs with MMRN1: view

Variants for MMRN1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MMRN1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs112060647 Benign: not provided 89,936,101(+) A/G
NM_007351.3(MMRN1):c.2421A>G (p.Ala807=) 		SYNONYMOUS
rs138127460 Benign: not provided 89,935,075(+) T/C
NM_007351.3(MMRN1):c.1395T>C (p.Asn465=) 		SYNONYMOUS
rs1442139 Benign: not provided 89,895,101(+) G/A
NM_007351.3(MMRN1):c.130G>A (p.Val44Ile) 		MISSENSE
rs41279301 Benign: not provided 89,936,396(+) T/C
NM_007351.3(MMRN1):c.2716T>C (p.Leu906=) 		SYNONYMOUS
rs41284765 Benign: not provided 89,923,160(+) C/T
NM_007351.3(MMRN1):c.851-8C>T 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MMRN1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MMRN1 Gene

Variant ID Type Subtype PubMed ID
dgv5336n100 CNV loss 25217958
esv2663326 CNV deletion 23128226
esv3569582 CNV loss 25503493
esv3601329 CNV loss 21293372
nsv1012406 CNV loss 25217958
nsv1161117 CNV deletion 26073780
nsv4418 CNV insertion 18451855
nsv461576 CNV gain 19166990
nsv516189 CNV loss 19592680
nsv594806 CNV gain 21841781
nsv594821 CNV loss 21841781
nsv830005 CNV loss 17160897

Variation tolerance for MMRN1 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.53; 64.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MMRN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMRN1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMRN1 Gene

Disorders for MMRN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MMRN1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
quebec platelet disorder
  • qpd
blood platelet disease
  • platelet disorder
- elite association - COSMIC cancer census association via MalaCards
Search MMRN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MMRN1_HUMAN
  • 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). {ECO:0000269 PubMed:8652809}.

Additional Disease Information for MMRN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MMRN1: view

No data available for Genatlas for MMRN1 Gene

Publications for MMRN1 Gene

  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. (PMID: 7629143) Hayward CP … Kelton JG (The Journal of biological chemistry 1995) 2 3 4 23
  2. Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation. (PMID: 19132231) Jeimy SB … Hayward CP (Thrombosis and haemostasis 2008) 3 4 23
  3. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PMID: 16263699) Lewandrowski U … Sickmann A (Molecular & cellular proteomics : MCP 2006) 3 4 23
  4. Analyses of cellular multimerin 1 receptors: in vitro evidence of binding mediated by alphaIIbbeta3 and alphavbeta3. (PMID: 16363244) Adam F … Hayward CP (Thrombosis and haemostasis 2005) 3 4 23
  5. Platelet glycoprotein Ia* is the processed form of multimerin--isolation and determination of N-terminal sequences of stored and released forms. (PMID: 9798985) Polgár J … Clemetson KJ (Thrombosis and haemostasis 1998) 3 4 23

ExternalLinks

View latest publications for MMRN1 gene in Mastermind

Products for MMRN1 Gene

  • Addgene plasmids for MMRN1

Sources for MMRN1 Gene