Official symbol | MMRN1 |
Gene id | 22915 |
Organism | Homo sapiens |
Official full symbol | multimerin 1 |
Gene type | protein-coding |
Also known as | ECM, EMILIN4, GPIa*, MMRN |
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. |
Genomic regions | Chromosome 4 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
MMRN1-202 | ENST00000394980.5 | 5217 | 1228aa | Protein coding | CCDS3635 | Q13201-1 | - | TSL:5, GENCODE basic, APPRIS P1, |
MMRN1-201 | ENST00000264790.7 | 5001 | 1228aa | Protein coding | CCDS3635 | Q13201-1 | NM_007351.3 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
MMRN1-204 | ENST00000508372.1 | 3234 | 970aa | Protein coding | - | E7EPG1 | - | TSL:2, GENCODE basic, |
MMRN1-203 | ENST00000506328.1 | 766 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | MMRN1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene MMRN1 had been KO in hela cell line. |
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