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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 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 and blood platelet disease. Among its related pathways are Platelet activation, signaling and aggregation. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMRN1 Gene

Genomics for MMRN1 Gene

Regulatory Elements for MMRN1 Gene

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

Proteomics data for MMRN1 Gene at MOPED

Post-translational modifications for MMRN1 Gene

  • Extensively N-glycosylated.
  • The N-terminus is blocked.
  • Glycosylation at Asn 21, Asn 97, Asn 114, Asn 120, Asn 136, Asn 344, Asn 431, Asn 507, Asn 541, Asn 576, Asn 618, Asn 680, Asn 729, Asn 783, Asn 816, Asn 828, Asn 840, Asn 921, Asn 933, Asn 942, Asn 981, Asn 1020, and Asn 1075
  • Modification sites at PhosphoSitePlus

Other Protein References for MMRN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Q13201

UniProtKB/Swiss-Prot:

MMRN1_HUMAN :
  • Contains 1 C1q domain.
Domain:
  • Contains 1 C1q domain.
  • Contains 1 EGF-like domain.
  • Contains 1 EMI domain.
genes like me logo Genes that share domains with MMRN1: view

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.
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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MMRN1 Gene COMPARTMENTS Subcellular localization image for MMRN1 gene
Compartment Confidence
extracellular 5
mitochondrion 2
plasma membrane 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MMRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:0007155 cell adhesion TAS 9189649
GO:0007596 blood coagulation TAS 9189649
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

(2) Drugs for MMRN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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

Flow Cytometry Products

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 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



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.
genes like me logo Genes that share expression patterns with MMRN1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia MMRN1 35
  • 83.24 (n)
  • 75.7 (a)
MMRN1 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MMRN1 35
  • 86.58 (n)
  • 81.85 (a)
MMRN1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mmrn1 35
  • 74.57 (n)
  • 66.69 (a)
Mmrn1 16
Mmrn1 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MMRN1 35
  • 99.02 (n)
  • 98.37 (a)
MMRN1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mmrn1 35
  • 75.47 (n)
  • 67.14 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia MMRN1 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMRN1 35
  • 60.77 (n)
  • 49.2 (a)
MMRN1 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMRN1 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmrn1 35
  • 58.5 (n)
  • 46.83 (a)
zebrafish
(Danio rerio)
Actinopterygii mmrn2a 36
  • 14 (a)
ManyToMany
mmrn2b 36
  • 15 (a)
ManyToMany
Species with no ortholog for MMRN1:
  • 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
rs1442138 - 89,895,143(-) CCGAG(C/T)GGTTG reference, missense
rs3756065 - 89,936,093(+) CCAAG(A/G)CCCTT reference, missense
rs12646270 - 89,936,328(+) AAAAG(A/G)CAGTG reference, missense
rs17855885 - 89,936,571(+) TCTAA(C/G)AGAAT reference, missense
rs763443 -- 89,898,810(+) TCTAA(C/T)CGCTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv461576 CNV Gain 19166990
nsv830005 CNV Loss 17160897
nsv4418 CNV Insertion 18451855
esv2663326 CNV Deletion 23128226
nsv516189 CNV Loss 19592680

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

HapMap Linkage Disequilibrium report
MMRN1

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

Disorders for MMRN1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MMRN1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
quebec platelet disorder
  • factor v quebec
blood platelet disease
  • platelet disorder
factor v deficiency
  • quebec 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}.

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 23 67
  2. Platelet adhesion to multimerin 1 in vitro: influences of platelet membrane receptors, von Willebrand factor and shear. (PMID: 19175495) Tasneem S. … Hayward C.P. (J. Thromb. Haemost. 2009) 3 23
  3. Location of the multimerin 1 binding site in coagulation factor V: an update. (PMID: 18452976) Jeimy S.B. … Hayward C.P. (Thromb. Res. 2008) 3 23
  4. 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 23
  5. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PMID: 16263699) Lewandrowski U. … Sickmann A. (Mol. Cell. Proteomics 2006) 3 23

Products for MMRN1 Gene

Sources for MMRN1 Gene

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