MMRN1 (multimerin 1)

2016-05-01  

Identity

HGNC
LOCATION
4q22.1
LOCUSID
ALIAS
ECM,EMILIN4,GPIa*,MMRN
FUSION GENES

Other Information

Locus ID:

NCBI: 22915
MIM: 601456
HGNC: 7178
Ensembl: ENSG00000138722

Variants:

dbSNP: 22915
ClinVar: 22915
TCGA: ENSG00000138722
COSMIC: MMRN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138722ENST00000264790Q13201
ENSG00000138722ENST00000394980Q13201
ENSG00000138722ENST00000508372E7EPG1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
210589432011Replication of GWAS associations for GAK and MAPT in Parkinson's disease.23
158497332005Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.17
191322312008Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation.13
163632442005Analyses of cellular multimerin 1 receptors: in vitro evidence of binding mediated by alphaIIbbeta3 and alphavbeta3.8
155837442004Human platelets contain forms of factor V in disulfide-linkage with multimerin.4
191754952009Platelet adhesion to multimerin 1 in vitro: influences of platelet membrane receptors, von Willebrand factor and shear.4
258254782015Multimerin-1 (MMRN1) as Novel Adverse Marker in Pediatric Acute Myeloid Leukemia: A Report from the Children's Oncology Group.3
154521292004Identification of the MMRN1 binding region within the C2 domain of human factor V.2
264466352015Circulating Anti-Elastin Antibody Levels and Arterial Disease Characteristics: Associations with Arterial Stiffness and Atherosclerosis.1

Citation

Dessen P

MMRN1 (multimerin 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55768/mmrn1