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MMRN1 multimerin 1 [ Homo sapiens (human) ]

Gene ID: 22915, updated on 8-Jul-2021

Summary

Official Symbol
MMRN1provided by HGNC
Official Full Name
multimerin 1provided by HGNC
Primary source
HGNC:HGNC:7178
See related
Ensembl:ENSG00000138722 MIM:601456
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

See MMRN1 in Genome Data Viewer
Location:
4q22.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (89879511..89954629)
105.20201022 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 LOC105377329 Neighboring gene synuclein alpha Neighboring gene SNCA antisense RNA 1 Neighboring gene VISTA enhancer hs1374 Neighboring gene uncharacterized LOC105377331

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
multimerin-1
Names
EMILIN-4
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_001371403.1NP_001358332.1  multimerin-1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC093759
    Related
    ENSP00000378431.1, ENST00000394980.5
    Conserved Domains (5) summary
    TIGR01612
    Location:676873
    235kDa-fam; reticulocyte binding/rhoptry protein
    cd00054
    Location:10451077
    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:296743
    CCDC158; Coiled-coil domain-containing protein 158
    pfam07546
    Location:209276
    EMI; EMI domain
    cl23878
    Location:10941228
    C1q; C1q domain
  2. NM_007351.3NP_031377.2  multimerin-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
    Related
    ENSP00000264790.2, ENST00000264790.7
    Conserved Domains (5) summary
    TIGR01612
    Location:676873
    235kDa-fam; reticulocyte binding/rhoptry protein
    cd00054
    Location:10451077
    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:296743
    CCDC158; Coiled-coil domain-containing protein 158
    pfam07546
    Location:209276
    EMI; EMI domain
    cl23878
    Location:10941228
    C1q; C1q domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    89879511..89954629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262856.3XP_005262913.1  multimerin-1 isoform X1

    Conserved Domains (4) summary
    cd00054
    Location:10101042
    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 ...
    pfam07546
    Location:209276
    EMI; EMI domain
    pfam16043
    Location:505643
    DUF4795; Domain of unknown function (DUF4795)
    cl23878
    Location:10591193
    C1q; C1q domain
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