MMRN1 multimerin 1 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Analysis of Multimerin 1 (MMRN1) expression in ovarian cancer.
Title: Analysis of Multimerin 1 (MMRN1) expression in ovarian cancer.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Replication of GWAS associations for GAK and MAPT in Parkinson's disease.
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.
The MMRN1 binding site was located in Factor V.
Title: Location of the multimerin 1 binding site in coagulation factor V: an update.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-34230 (e-PCR)
- UniSTS:64788

SHGC-59264 (e-PCR)
- UniSTS:36141

SHGC-59858 (e-PCR)
- UniSTS:82780

SHGC-59682 (e-PCR)
- UniSTS:7007

MMRN_212 (e-PCR)
- UniSTS:277495

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 more info	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

NG_032895.2 RefSeqGene

Range

20323..80083

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_634

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC093759

Consensus CDS

CCDS93560.1

UniProtKB/TrEMBL

B7Z7R8, E7EPG1

Related

ENSP00000426461.1, ENST00000508372.1
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