• Gene id: 22915

Gene Summary

• Gene Symbol: MMRN1   Gene   UCSC   Ensembl
• Aliases: ECM, EMILIN4, GPIa*, MMRN
• Gene name: multimerin 1
• Alternate names: multimerin-1, EMILIN-4, elastin microfibril interface located protein 4, elastin microfibril interfacer 4, endothelial cell multimerin, glycoprotein Ia*,
• Gene location: 4q22.1 (89879510: 89954628)     Exons: 9     NC_000004.12
• Gene summary(Entrez): 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 prote
• OMIM: 603506

Protein Summary

• Protein general information: Q13201  
  • Name: Multimerin 1 (EMILIN 4) (Elastin microfibril interface located protein 4) (Elastin microfibril interfacer 4) (Endothelial cell multimerin) [Cleaved into: Platelet glycoprotein Ia*; 155 kDa platelet multimerin (p 155) (p155)]
  • Length: 1228  
  • Mass: 138110
  • 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, endotheliu
• Sequence:

  MKGARLFVLLSSLWSGGIGLNNSKHSWTIPEDGNSQKTMPSASVPPNKIQSLQILPTTRVMSAEIATTPEARTSE
  DSLLKSTLPPSETSAPAEGVRNQTLTSTEKAEGVVKLQNLTLPTNASIKFNPGAESVVLSNSTLKFLQSFARKSN
  EQATSLNTVGGTGGIGGVGGTGGVGNRAPRETYLSRGDSSSSQRTDYQKSNFETTRGKNWCAYVHTRLSPTVILD
  NQVTYVPGGKGPCGWTGGSCPQRSQKISNPVYRMQHKIVTSLDWRCCPGYSGPKCQLRAQEQQSLIHTNQAESHT
  AVGRGVAEQQQQQGCGDPEVMQKMTDQVNYQAMKLTLLQKKIDNISLTVNDVRNTYSSLEGKVSEDKSREFQSLL
  KGLKSKSINVLIRDIVREQFKIFQNDMQETVAQLFKTVSSLSEDLESTRQIIQKVNESVVSIAAQQKFVLVQENR
  PTLTDIVELRNHIVNVRQEMTLTCEKPIKELEVKQTHLEGALEQEHSRSILYYESLNKTLSKLKEVHEQLLSTEQ
  VSDQKNAPAAESVSNNVTEYMSTLHENIKKQSLMMLQMFEDLHIQESKINNLTVSLEMEKESLRGECEDMLSKCR
  NDFKFQLKDTEENLHVLNQTLAEVLFPMDNKMDKMSEQLNDLTYDMEILQPLLEQGASLRQTMTYEQPKEAIVIR
  KKIENLTSAVNSLNFIIKELTKRHNLLRNEVQGRDDALERRINEYALEMEDGLNKTMTIINNAIDFIQDNYALKE
  TLSTIKDNSEIHHKCTSDMETILTFIPQFHRLNDSIQTLVNDNQRYNFVLQVAKTLAGIPRDEKLNQSNFQKMYQ
  MFNETTSQVRKYQQNMSHLEEKLLLTTKISKNFETRLQDIESKVTQTLIPYYISVKKGSVVTNERDQALQLQVLN
  SRFKALEAKSIHLSINFFSLNKTLHEVLTMCHNASTSVSELNATIPKWIKHSLPDIQLLQKGLTEFVEPIIQIKT
  QAALSNLTCCIDRSLPGSLANVVKSQKQVKSLPKKINALKKPTVNLTTVLIGRTQRNTDNIIYPEEYSSCSRHPC
  QNGGTCINGRTSFTCACRHPFTGDNCTIKLVEENALAPDFSKGSYRYAPMVAFFASHTYGMTIPGPILFNNLDVN
  YGASYTPRTGKFRIPYLGVYVFKYTIESFSAHISGFLVVDGIDKLAFESENINSEIHCDRVLTGDALLELNYGQE
  VWLRLAKGTIPAKFPPVTTFSGYLLYRT

• Structural information:
  • Protein Domains: (207..28-)
    (/note="EMI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00384-)
    (1041..107-)
    (/note="EGF-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (1096..122-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR001881  IPR013032  IPR000742  IPR000152   IPR011489  IPR033188  IPR008983  
  • Prosite: PS50871 PS00022 PS01186 PS50026 PS51041
  • STRING: ENSP00000378431
• Other Databases: GeneCards:  MMRN1  Malacards:  MMRN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030023	extracellular matrix constituent conferring elasticity	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007596	blood coagulation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray