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Aliases for MMRN1 Gene

Aliases for MMRN1 Gene

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

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. Among its related pathways are Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is MMRN2.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMRN1 Gene

Genomics for MMRN1 Gene

Regulatory Elements for MMRN1 Gene

Enhancers for MMRN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G089894 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.8 +18.6 18557 7.9 HDGF CTCF PKNOX1 JUN YBX1 FEZF1 EBF1 RAD21 GATA2 POLR2A MMRN1 SNCA LOC105377331
GH04G089888 1.3 FANTOM5 ENCODE dbSUPER 14.7 +10.0 9992 1.5 LEF1 TAL1 TCF12 FOXM1 GATA2 NCOR1 STAT2 ZSCAN29 TRIM24 FOS MMRN1 LOC105377331
GH04G089752 1.2 Ensembl ENCODE 12.6 -125.8 -125764 2.4 PKNOX1 INSM2 SIN3A FEZF1 ZEB1 ZNF366 ZSCAN5C SCRT2 SMARCC2 FOS MMRN1 SNCA ENSG00000276542 SNCA-AS1
GH04G089738 0.6 ENCODE 12.6 -141.4 -141428 0.2 MAFF JUND JUN FOS MAFK SP7 MMRN1 GC04M089729 ENSG00000274238
GH04G089660 0.7 ENCODE 9 -218.1 -218140 1.6 NFIB TEAD4 MAFG CEBPB RAD21 EP300 RFX5 ZNF316 MAFF MAFK MMRN1 GC04M089729 LOC105377329
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MMRN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MMRN1 Gene

Chromosome:
4
Start:
89,879,532 bp from pter
End:
89,954,629 bp from pter
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 StructureGene Density

RefSeq DNA sequence for MMRN1 Gene

Proteins for MMRN1 Gene

  • 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

Post-translational modifications for MMRN1 Gene

  • Extensively N-glycosylated.
  • The N-terminus is blocked.
  • Glycosylation at posLast=2121, posLast=9797, Asn114, Asn120, Asn136, posLast=344344, Asn431, Asn507, Asn541, Asn576, posLast=618618, posLast=680680, posLast=729729, Asn783, posLast=816816, posLast=828828, posLast=840840, Asn921, posLast=933933, posLast=942942, Asn981, Asn1020, and posLast=10751075
  • Modification sites at PhosphoSitePlus

Other Protein References for MMRN1 Gene

No data available for DME Specific Peptides for MMRN1 Gene

Domains & Families for MMRN1 Gene

Gene Families for MMRN1 Gene

Suggested Antigen Peptide Sequences for MMRN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MMRN1 Gene

Function for MMRN1 Gene

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.

Gene Ontology (GO) - Molecular Function for MMRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding 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:

Animal Model Products

miRNA for MMRN1 Gene

miRTarBase miRNAs that target MMRN1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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 5
mitochondrion 2
plasma membrane 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MMRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0031012 extracellular matrix IDA 23979707
GO:0031093 platelet alpha granule lumen TAS --
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,TAS --
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

(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

Unigene Clusters for MMRN1 Gene

Multimerin 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
MMRN1

Expression for MMRN1 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of MMRN1 Gene:

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(4.3)
  • Liver(4.2)
  • Bone marrow(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with MMRN1: view

Primer Products

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 34 35
  • 99.02 (n)
dog
(Canis familiaris)
Mammalia MMRN1 34 35
  • 86.58 (n)
cow
(Bos Taurus)
Mammalia MMRN1 34 35
  • 83.24 (n)
rat
(Rattus norvegicus)
Mammalia Mmrn1 34
  • 75.47 (n)
mouse
(Mus musculus)
Mammalia Mmrn1 34 16 35
  • 74.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MMRN1 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMRN1 34 35
  • 60.77 (n)
lizard
(Anolis carolinensis)
Reptilia MMRN1 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmrn1 34
  • 58.5 (n)
zebrafish
(Danio rerio)
Actinopterygii mmrn2b 35
  • 15 (a)
ManyToMany
mmrn2a 35
  • 14 (a)
ManyToMany
Species where no ortholog for MMRN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for MMRN1 Gene

Paralogs for MMRN1 Gene

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

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

Variants for MMRN1 Gene

Sequence variations from dbSNP and Humsavar for MMRN1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000011673 -- 89,938,850(+) AAGCA(A/G)AGATA intron-variant
rs1000074317 -- 89,900,145(+) TTTCG(A/C)AGGCA intron-variant
rs1000076779 -- 89,880,950(+) GAAGT(A/C)CATAA intron-variant
rs1000083900 -- 89,934,538(+) GTTCC(A/G)TCATG intron-variant
rs10001067 -- 89,897,065(+) ATTGA(C/G)AGCTT intron-variant

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)

Relevant External Links for MMRN1 Gene

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

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

Disorders for MMRN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MMRN1 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
quebec platelet disorder
  • bdplt5
- 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}.

Relevant External Links for MMRN1

Genetic Association Database (GAD)
MMRN1
Human Genome Epidemiology (HuGE) Navigator
MMRN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MMRN1
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 C.P.M. … Kelton J.G. (J. Biol. Chem. 1995) 2 3 4 22 64
  2. Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation. (PMID: 19132231) Jeimy S.B. … Hayward C.P.M. (Thromb. Haemost. 2008) 3 4 22 64
  3. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PMID: 16263699) Lewandrowski U. … Sickmann A. (Mol. Cell. Proteomics 2006) 3 4 22 64
  4. Analyses of cellular multimerin 1 receptors: in vitro evidence of binding mediated by alphaIIbbeta3 and alphavbeta3. (PMID: 16363244) Adam F. … Hayward C.P.M. (Thromb. Haemost. 2005) 3 4 22 64
  5. Platelet glycoprotein Ia* is the processed form of multimerin -- isolation and determination of N-terminal sequences of stored and released forms. (PMID: 9798985) Polgar J. … Clemetson K.J. (Thromb. Haemost. 1998) 3 4 22 64

Products for MMRN1 Gene

  • Addgene plasmids for MMRN1

Sources for MMRN1 Gene

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