Mmrn1 multimerin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mmrn1provided by MGI
Official Full Name: multimerin 1provided by MGI
Primary source: MGI:MGI:1918195
See related: Ensembl:ENSMUSG00000054641 AllianceGenome:MGI:1918195
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mmrn; Emilin4; 4921530G03Rik
Summary: Predicted to enable calcium ion binding activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in blood coagulation. Located in collagen-containing extracellular matrix. Is expressed in several structures, including cardiovascular system; embryo mesenchyme; genitourinary system; hemolymphoid system gland; and meninges. Orthologous to human MMRN1 (multimerin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bladder adult (RPKM 3.6), liver E14 (RPKM 2.2) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 B3; 6 29.22 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (60921301..60966362)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (60944317..60989378)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Multimerin 1 supports platelet function in vivo and binds to specific GPAGPOGPX motifs in fibrillar collagens that enhance platelet adhesion.
Title: Multimerin 1 supports platelet function in vivo and binds to specific GPAGPOGPX motifs in fibrillar collagens that enhance platelet adhesion.
Increased Expression of the Multimerin-1 Gene in alpha-Synuclein Knokout Mice.
Title: Increased Expression of the Multimerin-1 Gene in α-Synuclein Knokout Mice.
C57BL/6J-OlaHsd mice, a substrain of C57BL/6J carrying mutated alpha-synuclein and multimerin-1 genes, have an altered bone phenotype.
Title: Bone loss in C57BL/6J-OlaHsd mice, a substrain of C57BL/6J carrying mutated alpha-synuclein and multimerin-1 genes.
Our data suggest that multimerin 1 supports platelet adhesive functions and thrombus formation, which will be important to verify by generating and testing selective multimerin 1 deficient mice.
Title: Mice with deleted multimerin 1 and alpha-synuclein genes have impaired platelet adhesion and impaired thrombus formation that is corrected by multimerin 1.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
involved_in cell adhesion mediated by integrin	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of wound healing	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of wound healing	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of platelet aggregation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of platelet aggregation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info
part_of multimerin complex	ISO Inferred from Sequence Orthology more info
located_in platelet alpha granule	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: multimerin-1

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.

mRNA and Protein(s)

NM_001163507.1 → NP_001156979.1 multimerin-1 isoform b precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.

Source sequence(s)

AK014984, AK036724, AK137556, BB035031

Consensus CDS

CCDS85058.1

UniProtKB/Swiss-Prot

B2RPV6, Q6KDN2, Q80VQ7, Q9D5S2

UniProtKB/TrEMBL

A0A0N4SVL8

Related

ENSMUSP00000145156.2, ENSMUST00000204333.2

Conserved Domains (4) summary

PRK12495
Location:32 → 170

PRK12495; hypothetical protein; Provisional

cd00054
Location:1026 → 1058

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:194 → 261

EMI; EMI domain

cl23878
Location:1075 → 1209

C1q; C1q domain
NM_027613.1 → NP_081889.1 multimerin-1 isoform a precursor

See identical proteins and their annotated locations for NP_081889.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AK014984, AK036724, AK137556, BB035031

Consensus CDS

CCDS51799.1

UniProtKB/Swiss-Prot

B2RPV6, Q6KDN2, Q80VQ7, Q9D5S2

UniProtKB/TrEMBL

G3UVV6

Related

ENSMUSP00000119609.2, ENSMUST00000129603.4

Conserved Domains (4) summary

PRK12495
Location:32 → 170

PRK12495; hypothetical protein; Provisional

cd00054
Location:1027 → 1059

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:194 → 261

EMI; EMI domain

cl23878
Location:1076 → 1210

C1q; C1q domain