Human Gene MMRN1 (ENST00000264790.7_4) from GENCODE V47lift37
  Description: multimerin 1, transcript variant 2 (from RefSeq NM_007351.3)
Gencode Transcript: ENST00000264790.7_4
Gencode Gene: ENSG00000138722.10_8
Transcript (Including UTRs)
   Position: hg19 chr4:90,816,005-90,875,765 Size: 59,761 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr4:90,816,123-90,874,569 Size: 58,447 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:90,816,005-90,875,765)mRNA (may differ from genome)Protein (1228 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MMRN1_HUMAN
DESCRIPTION: RecName: Full=Multimerin-1; AltName: Full=EMILIN-4; AltName: Full=Elastin microfibril interface located protein 4; Short=Elastin microfibril interfacer 4; AltName: Full=Endothelial cell multimerin; Contains: RecName: Full=Platelet glycoprotein Ia*; Contains: RecName: Full=155 kDa platelet multimerin; Short=p-155; Short=p155; Flags: Precursor;
FUNCTION: Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein.
SUBUNIT: Multimeric. Composed of varying sized, disulfide-linked multimers, the smallest of which is a homotrimer. Proteolysis of the promultimerin in the N-terminal region, leads to the mature p155 form that is stored in platelets. Interacts with factor V/Va.
SUBCELLULAR LOCATION: Secreted (Potential).
TISSUE SPECIFICITY: Synthesized by endothelial cells and megakaryocytes. Stored in platelet alpha granules and endothelial cell Weibel-Palade bodies, following activation of these cells, it is released and attached to megakaryocytes, platelets, endothelium and subendothelium of blood vessels. Not found in plasma. Found in vascular tissues such as placenta, lung, and liver.
PTM: The N-terminus is blocked.
PTM: Extensively N-glycosylated.
DISEASE: Note=Deficiency in multimerin-1 due to proteolytic degradation within the platelet alpha granules is associated with an autosomal dominant bleeding disorder (factor V Quebec).
SIMILARITY: Contains 1 C1q domain.
SIMILARITY: Contains 1 EGF-like domain.
SIMILARITY: Contains 1 EMI domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MMRN1
Diseases sorted by gene-association score: quebec platelet disorder (11)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.64 RPKM in Thyroid
Total median expression: 197.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.60118-0.192 Picture PostScript Text
3' UTR -236.101196-0.197 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001073 - C1q
IPR013320 - ConA-like_subgrp
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR011489 - EMI_domain
IPR008983 - Tumour_necrosis_fac-like

Pfam Domains:
PF00008 - EGF-like domain
PF00386 - C1q domain
PF07546 - EMI domain
PF12661 - Human growth factor-like EGF

SCOP Domains:
49842 - TNF-like
53850 - Periplasmic binding protein-like II
57196 - EGF/Laminin

ModBase Predicted Comparative 3D Structure on Q13201
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding

Biological Process:
GO:0002576 platelet degranulation
GO:0007155 cell adhesion
GO:0007596 blood coagulation

Cellular Component:
GO:0005576 extracellular region
GO:0031012 extracellular matrix
GO:0031093 platelet alpha granule lumen


-  Descriptions from all associated GenBank mRNAs
  AK125557 - Homo sapiens cDNA FLJ43569 fis, clone PUAEN2009795, moderately similar to Endothelial cell multimerin precursor.
AK313566 - Homo sapiens cDNA, FLJ94130, highly similar to Homo sapiens multimerin (MMRN), mRNA.
BC063848 - Homo sapiens multimerin 1, mRNA (cDNA clone MGC:75051 IMAGE:6180674), complete cds.
U27109 - Human prepromultimerin mRNA, complete cds.
AB385146 - Synthetic construct DNA, clone: pF1KB5655, Homo sapiens MMRN1 gene for multimerin-1 precursor, complete cds, without stop codon, in Flexi system.
HQ258009 - Synthetic construct Homo sapiens clone IMAGE:100072318 multimerin 1 (MMRN1) (MMRN1) gene, encodes complete protein.
KJ898423 - Synthetic construct Homo sapiens clone ccsbBroadEn_07817 MMRN1 gene, encodes complete protein.
AK302421 - Homo sapiens cDNA FLJ55622 complete cds, highly similar to Multimerin-1 precursor.
JD299575 - Sequence 280599 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13201 (Reactome details) participates in the following event(s):

R-HSA-481007 Exocytosis of platelet alpha granule contents
R-HSA-114608 Platelet degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ECM, EMILIN4, ENST00000264790.1, ENST00000264790.2, ENST00000264790.3, ENST00000264790.4, ENST00000264790.5, ENST00000264790.6, GPIA*, MMRN, MMRN1_HUMAN, NM_007351, Q13201, Q4W5L1, Q6P3T8, Q6ZUL9, uc317hvp.1, uc317hvp.2
UCSC ID: ENST00000264790.7_4
RefSeq Accession: NM_007351.3
Protein: Q13201 (aka MMRN1_HUMAN or MRN1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.