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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]
MMRN1 (Multimerin 1) is a Protein Coding gene. Diseases associated with MMRN1 include Quebec Platelet Disorder and Blood Platelet Disease. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EMILIN2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J089894 | Promoter/Enhancer | 1.8 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 274.8 | +18.6 | 18578 | 7.9 | CTCF EBF1 SMC3 RAD21 JUND BHLHE40 ELF1 IKZF1 NR2F1 HDGF | MMRN1 SNCA HSALNG0035799 CCSER1 | |
GH04J089879 | Promoter | 0.3 | EPDnew | 250.7 | -0.1 | -71 | 0.1 | MMRN1 SNCA | ||
GH04J089878 | Enhancer | 0.3 | Ensembl | 250.7 | -0.7 | -710 | 0.4 | CEBPB | MMRN1 SNCA | |
GH04J089888 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE dbSUPER | 14.7 | +10.2 | 10168 | 1.8 | IKZF1 MBD2 REST TAL1 SMARCA4 STAT5A FOXM1 TCF12 MTA2 CHAMP1 | MMRN1 HSALNG0035799 CCSER1 | |
GH04J089752 | Enhancer | 1.1 | Ensembl ENCODE CraniofacialAtlas | 12.6 | -125.9 | -125910 | 2.8 | FEZF1 ZEB1 CEBPB ZNF639 EP300 ZNF341 CTBP1 ZNF843 STAT3 JUND | MMRN1 SNCA ENSG00000276542 ENSG00000277695 lnc-GPRIN3-4 GPRIN3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | RCA | 23979707 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 26627825 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0031093 | platelet alpha granule lumen | TAS | -- |
GO:0062023 | collagen-containing extracellular matrix | HDA | 23979707 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002576 | platelet degranulation | TAS | -- |
GO:0007155 | cell adhesion | TAS | 9189649 |
GO:0007596 | blood coagulation | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MMRN1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MMRN1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MMRN1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mmrn1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mmrn1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MMRN1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MMRN1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MMRN1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mmrn1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mmrn2b 31 |
|
ManyToMany | |
mmrn2a 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs112060647 | Benign: not provided | 89,936,101(+) |
A/G NM_007351.3(MMRN1):c.2421A>G (p.Ala807=) |
SYNONYMOUS | |
rs138127460 | Benign: not provided | 89,935,075(+) |
T/C NM_007351.3(MMRN1):c.1395T>C (p.Asn465=) |
SYNONYMOUS | |
rs1442139 | Benign: not provided | 89,895,101(+) |
G/A NM_007351.3(MMRN1):c.130G>A (p.Val44Ile) |
MISSENSE | |
rs41279301 | Benign: not provided | 89,936,396(+) |
T/C NM_007351.3(MMRN1):c.2716T>C (p.Leu906=) |
SYNONYMOUS | |
rs41284765 | Benign: not provided | 89,923,160(+) |
C/T NM_007351.3(MMRN1):c.851-8C>T |
INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5336n100 | CNV | loss | 25217958 |
esv2663326 | CNV | deletion | 23128226 |
esv3569582 | CNV | loss | 25503493 |
esv3601329 | CNV | loss | 21293372 |
nsv1012406 | CNV | loss | 25217958 |
nsv1161117 | CNV | deletion | 26073780 |
nsv4418 | CNV | insertion | 18451855 |
nsv461576 | CNV | gain | 19166990 |
nsv516189 | CNV | loss | 19592680 |
nsv594806 | CNV | gain | 21841781 |
nsv594821 | CNV | loss | 21841781 |
nsv830005 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
quebec platelet disorder |
|
|
blood platelet disease |
|
|