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MMRN1 multimerin 1 [ Homo sapiens (human) ]

Gene ID: 22915, updated on 3-Apr-2024

Summary

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Official Symbol
MMRN1provided by HGNC
Official Full Name
multimerin 1provided by HGNC
Primary source
HGNC:HGNC:7178
See related
Ensembl:ENSG00000138722 MIM:601456; AllianceGenome:HGNC:7178
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ECM; MMRN; GPIa*; EMILIN4
Summary
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]
Expression
Broad expression in placenta (RPKM 19.8), gall bladder (RPKM 14.4) and 19 other tissues See more
Orthologs
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Genomic context

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See MMRN1 in Genome Data Viewer
Location:
4q22.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (89879511..89954614)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (93210758..93285868)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (90800662..90875765)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900856 Neighboring gene MPRA-validated peak5070 silencer Neighboring gene synuclein alpha Neighboring gene SNCA antisense RNA 1 Neighboring gene VISTA enhancer hs1374 Neighboring gene uncharacterized LOC105377331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15572 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:91105702-91106205 Neighboring gene coiled-coil serine rich protein 1 Neighboring gene Sharpr-MPRA regulatory region 11449 Neighboring gene RN7SK pseudogene 248

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Analysis of Multimerin 1 (MMRN1) expression in ovarian cancer. Saini A, et al. Mol Biol Rep, 2020 Dec. PMID 33263168
  2. Circulating Anti-Elastin Antibody Levels and Arterial Disease Characteristics: Associations with Arterial Stiffness and Atherosclerosis. Lee SH, et al. Yonsei Med J, 2015 Nov. PMID 26446635, Free PMC Article
  3. Multimerin-1 (MMRN1) as Novel Adverse Marker in Pediatric Acute Myeloid Leukemia: A Report from the Children's Oncology Group. Laszlo GS, et al. Clin Cancer Res, 2015 Jul 15. PMID 25825478, Free PMC Article
  4. Location of the multimerin 1 binding site in coagulation factor V: an update. Jeimy SB, et al. Thromb Res, 2008. PMID 18452976, Free PMC Article
  5. Analyses of cellular multimerin 1 receptors: in vitro evidence of binding mediated by alphaIIbbeta3 and alphavbeta3. Adam F, et al. Thromb Haemost, 2005 Nov. PMID 16363244

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Multimerin 1 aids in the progression of ovarian cancer possibly via modulation of DNA damage response and repair pathways.
    Title: Multimerin 1 aids in the progression of ovarian cancer possibly via modulation of DNA damage response and repair pathways.
  2. Analysis of Multimerin 1 (MMRN1) expression in ovarian cancer.
    Title: Analysis of Multimerin 1 (MMRN1) expression in ovarian cancer.
  3. MMRN1 expression in healthy human palatal mucosa is strongly negatively correlated with serum cotinine levels.
    Title: Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.
  4. VWF binding to MMRN1 was enhanced by shear exposure and ristocetin, and required VWF A1A2A3 region, specifically the A1 and A3 domains.
    Title: The functions of the A1A2A3 domains in von Willebrand factor include multimerin 1 binding.
  5. Lower levels of anti-elastin are related to CAD [ coronary artery disease ]
    Title: Circulating Anti-Elastin Antibody Levels and Arterial Disease Characteristics: Associations with Arterial Stiffness and Atherosclerosis.
  6. our studies identify MMRN1 expression as a novel biomarker that may refine acute myelogenous leukemia risk stratification.
    Title: Multimerin-1 (MMRN1) as Novel Adverse Marker in Pediatric Acute Myeloid Leukemia: A Report from the Children's Oncology Group.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Replication of GWAS associations for GAK and MAPT in Parkinson's disease.
  8. MMRN1 supported the adhesion of activated, but not resting, washed platelets over a wide range of shear rates
    Title: Platelet adhesion to multimerin 1 in vitro: influences of platelet membrane receptors, von Willebrand factor and shear.
  9. The MMRN1 binding site was located in Factor V.
    Title: Location of the multimerin 1 binding site in coagulation factor V: an update.
  10. Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation.
    Title: Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables extracellular matrix constituent conferring elasticity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in blood coagulation TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell adhesion TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell adhesion mediated by integrin IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of wound healing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of platelet aggregation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
part_of multimerin complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in platelet alpha granule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
multimerin-1
Names
elastin microfibril interface located protein 4
elastin microfibril interfacer 4
endothelial cell multimerin
glycoprotein Ia*

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032895.2 RefSeqGene

    Range
    20323..80083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_634

mRNA and Protein(s)

  1. NM_001371403.1 → NP_001358332.1  multimerin-1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC093759
    Consensus CDS
    CCDS3635.1
    UniProtKB/Swiss-Prot
    Q13201, Q4W5L1, Q6P3T8, Q6ZUL9
    Related
    ENSP00000378431.1, ENST00000394980.5
    Conserved Domains (5) summary
    TIGR01612
    Location:676 → 873
    235kDa-fam; reticulocyte binding/rhoptry protein
    cd00054
    Location:1045 → 1077
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam15921
    Location:296 → 743
    CCDC158; Coiled-coil domain-containing protein 158
    pfam07546
    Location:209 → 276
    EMI; EMI domain
    cl23878
    Location:1094 → 1228
    C1q; C1q domain

  2. NM_001410735.1 → NP_001397664.1  multimerin-1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC093759
    Consensus CDS
    CCDS93560.1
    UniProtKB/TrEMBL
    E7EPG1
    Related
    ENSP00000426461.1, ENST00000508372.1

  3. NM_007351.3 → NP_031377.2  multimerin-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_031377.2

    Status: REVIEWED

    Source sequence(s)
    AC093759, AK125557, BC063848, BM126740, U27109
    Consensus CDS
    CCDS3635.1
    UniProtKB/Swiss-Prot
    Q13201, Q4W5L1, Q6P3T8, Q6ZUL9
    Related
    ENSP00000264790.2, ENST00000264790.7
    Conserved Domains (5) summary
    TIGR01612
    Location:676 → 873
    235kDa-fam; reticulocyte binding/rhoptry protein
    cd00054
    Location:1045 → 1077
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam15921
    Location:296 → 743
    CCDC158; Coiled-coil domain-containing protein 158
    pfam07546
    Location:209 → 276
    EMI; EMI domain
    cl23878
    Location:1094 → 1228
    C1q; C1q domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    89879511..89954614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449831.1 → XP_047305787.1  multimerin-1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    93210758..93285868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13201.3 GenPept UniProtKB/Swiss-Prot:Q13201

Gene LinkOut

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