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Aliases for MMRN1 Gene

Aliases for MMRN1 Gene

  • Multimerin 1 2 3
  • 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 Hemostasis and Hemostasis. 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn21, Asn97, Asn114, Asn120, Asn136, Asn344, Asn431, Asn507, Asn541, Asn576, Asn618, Asn680, Asn729, Asn783, Asn816, Asn828, Asn840, Asn921, Asn933, Asn942, Asn981, Asn1020, and Asn1075
  • Modification sites at PhosphoSitePlus

Other Protein References for MMRN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MMRN1 Gene

Domains for MMRN1 Gene

Gene Families for MMRN1 Gene

HGNC:
  • EMID :EMI domain containing

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 :
  • Q13201
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.

Gene Ontology (GO) - Molecular Function for MMRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with MMRN1: view

Phenotypes for MMRN1 Gene

GenomeRNAi human phenotypes for MMRN1:
genes like me logo Genes that share phenotypes with MMRN1: view

Animal Model Products

miRNA for MMRN1 Gene

miRTarBase miRNAs that target MMRN1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 4
mitochondrion 2
cytosol 1
nucleus 1
plasma membrane 1

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 --
genes like me logo Genes that share ontologies with MMRN1: view

Pathways 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 TAS --
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with MMRN1: view

Compounds for MMRN1 Gene

(5) Novoseek inferred chemical compound relationships for MMRN1 Gene

Compound -log(P) Hits PubMed IDs
chondroitin sulfate 37.3 1
okt3 35.9 2
fibrinogen 26.5 4
epinephrine 17.7 4
leucine 1.42 1
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for MMRN1

Primer 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 (4.7).

Integrated Proteomics: protein expression 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 expressions with MMRN1: view

In Situ Assay Products

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 35
  • 99.02 (n)
  • 98.37 (a)
MMRN1 36
  • 98 (a)
OneToOne
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
platypus
(Ornithorhynchus anatinus)
Mammalia MMRN1 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mmrn1 35
  • 75.47 (n)
  • 67.14 (a)
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

Selected 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 MAF
rs763443 -- 89,898,810(+) TCTAA(C/T)CGCTC intron-variant
rs1038140 -- 89,934,781(+) AAAAC(C/T)ATGTA intron-variant
rs1046992 -- 89,909,320(+) AGTGA(C/T)ATTGG missense, reference
rs1046993 -- 89,936,625(+) TAATT(C/T)AACTT missense, reference
rs1046994 -- 89,953,728(+) TAAAA(C/T)GGTAA utr-variant-3-prime

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

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

MalaCards: The human disease database. (1) Diseases for MMRN1 Gene including...

Search for MMRN1 Gene in MalaCards »

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}.

(12) Novoseek inferred disease relationships for MMRN1 Gene

Disease -log(P) Hits PubMed IDs
quebec platelet disorder 88.6 2
platelet disorder 52.7 2
coagulopathy 31.8 2
stroke 16.8 4
thrombosis 16.2 2

Relevant External Links for MMRN1

Genetic Association Database (GAD)
MMRN1
Human Genome Epidemiology (HuGE) Navigator
MMRN1
genes like me logo Genes that share disorders with MMRN1: view

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
  2. Multimerin is found in the alpha-granules of resting platelets and is synthesized by a megakaryocytic cell line. (PMID: 8514871) Hayward C.P.M. … Kelton J.G. (J. Clin. Invest. 1993) 3 4 23
  3. 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. (PMID: 8652809) Hayward C.P.M. … Kelton J.G. (Blood 1996) 3 4 23
  4. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PMID: 16263699) Lewandrowski U. … Sickmann A. (Mol. Cell. Proteomics 2006) 3 4 23
  5. 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 23

Products for MMRN1 Gene

Sources for MMRN1 Gene

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