Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Multimerin-1

Gene

MMRN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

GO - Biological processi

  • blood coagulation Source: ProtInc
  • cell adhesion Source: ProtInc
  • platelet degranulation Source: Reactome

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation

Names & Taxonomyi

Protein namesi
Recommended name:
Multimerin-1
Alternative name(s):
EMILIN-4
Elastin microfibril interface located protein 4
Short name:
Elastin microfibril interfacer 4
Endothelial cell multimerin
Cleaved into the following 2 chains:
Gene namesi
Name:MMRN1
Synonyms:ECM, EMILIN4, GPIA*, MMRN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000138722.9
HGNCiHGNC:7178 MMRN1
MIMi601456 gene
neXtProtiNX_Q13201

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Deficiency in multimerin-1 due to proteolytic degradation within the platelet alpha granules is associated with an autosomal dominant bleeding disorder (factor V Quebec).1 Publication

Organism-specific databases

DisGeNETi22915
OpenTargetsiENSG00000138722
PharmGKBiPA30891

Polymorphism and mutation databases

BioMutaiMMRN1
DMDMi143811421

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000000782120 – 1228Multimerin-1Add BLAST1209
ChainiPRO_0000367047184 – 1228Platelet glycoprotein Ia*Add BLAST1045
ChainiPRO_0000367048318 – 1228155 kDa platelet multimerinAdd BLAST911

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi21N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi97N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi114N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi120N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi136N-linked (GlcNAc...) (complex) asparagine2 Publications1
Disulfide bondi211 ↔ 272By similarity
Disulfide bondi238 ↔ 245By similarity
Disulfide bondi271 ↔ 280By similarity
Glycosylationi344N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi431N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi507N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi541N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi576N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi618N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi680N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi729N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi783N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi816N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi828N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi840N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi921N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi933N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi942N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi981N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1020N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi1045 ↔ 1056By similarity
Disulfide bondi1050 ↔ 1065By similarity
Disulfide bondi1067 ↔ 1076By similarity
Glycosylationi1075N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

The N-terminus is blocked.
Extensively N-glycosylated.4 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ13201
MaxQBiQ13201
PaxDbiQ13201
PeptideAtlasiQ13201
PRIDEiQ13201
ProteomicsDBi59220
59221 [Q13201-2]

2D gel databases

OGPiQ13201

PTM databases

GlyConnecti668
iPTMnetiQ13201
PhosphoSitePlusiQ13201
UniCarbKBiQ13201

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000138722 Expressed in 156 organ(s), highest expression level in lymph node
CleanExiHS_MMRN1
ExpressionAtlasiQ13201 baseline and differential
GenevisibleiQ13201 HS

Organism-specific databases

HPAiHPA035769

Interactioni

Subunit structurei

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.3 Publications

Protein-protein interaction databases

BioGridi116577, 18 interactors
ComplexPortaliCPX-445 Multimerin-1 complex
CPX-460 Platelet glycoprotein Ia* complex
CPX-461 155 kDa platelet multimerin complex
IntActiQ13201, 3 interactors
STRINGi9606.ENSP00000264790

Structurei

3D structure databases

ProteinModelPortaliQ13201
SMRiQ13201
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini207 – 282EMIPROSITE-ProRule annotationAdd BLAST76
Domaini1041 – 1077EGF-likePROSITE-ProRule annotationAdd BLAST37
Domaini1096 – 1228C1qPROSITE-ProRule annotationAdd BLAST133

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili333 – 365Sequence analysisAdd BLAST33
Coiled coili400 – 430Sequence analysisAdd BLAST31
Coiled coili503 – 523Sequence analysisAdd BLAST21
Coiled coili580 – 650Sequence analysisAdd BLAST71
Coiled coili675 – 726Sequence analysisAdd BLAST52
Coiled coili819 – 869Sequence analysisAdd BLAST51

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi186 – 188Cell attachment siteSequence analysis3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi189 – 192Poly-Ser4
Compositional biasi309 – 313Poly-Gln5

Keywords - Domaini

Coiled coil, EGF-like domain, Signal

Phylogenomic databases

eggNOGiENOG410IEM1 Eukaryota
ENOG411182X LUCA
GeneTreeiENSGT00660000095560
HOGENOMiHOG000113610
HOVERGENiHBG108139
InParanoidiQ13201
OMAiCACRHPF
OrthoDBiEOG091G00VO
PhylomeDBiQ13201
TreeFamiTF336041

Family and domain databases

Gene3Di2.60.120.40, 1 hit
InterProiView protein in InterPro
IPR001073 C1q_dom
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR011489 EMI_domain
IPR033188 MMRN1
IPR008983 Tumour_necrosis_fac-like_dom
PANTHERiPTHR15427:SF3 PTHR15427:SF3, 1 hit
PfamiView protein in Pfam
PF00386 C1q, 1 hit
PF00008 EGF, 1 hit
PF07546 EMI, 1 hit
PRINTSiPR00007 COMPLEMNTC1Q
SMARTiView protein in SMART
SM00110 C1Q, 1 hit
SM00181 EGF, 1 hit
SM00179 EGF_CA, 1 hit
SUPFAMiSSF49842 SSF49842, 1 hit
PROSITEiView protein in PROSITE
PS50871 C1Q, 1 hit
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 1 hit
PS51041 EMI, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13201-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKGARLFVLL SSLWSGGIGL NNSKHSWTIP EDGNSQKTMP SASVPPNKIQ
60 70 80 90 100
SLQILPTTRV MSAEIATTPE ARTSEDSLLK STLPPSETSA PAEGVRNQTL
110 120 130 140 150
TSTEKAEGVV KLQNLTLPTN ASIKFNPGAE SVVLSNSTLK FLQSFARKSN
160 170 180 190 200
EQATSLNTVG GTGGIGGVGG TGGVGNRAPR ETYLSRGDSS SSQRTDYQKS
210 220 230 240 250
NFETTRGKNW CAYVHTRLSP TVILDNQVTY VPGGKGPCGW TGGSCPQRSQ
260 270 280 290 300
KISNPVYRMQ HKIVTSLDWR CCPGYSGPKC QLRAQEQQSL IHTNQAESHT
310 320 330 340 350
AVGRGVAEQQ QQQGCGDPEV MQKMTDQVNY QAMKLTLLQK KIDNISLTVN
360 370 380 390 400
DVRNTYSSLE GKVSEDKSRE FQSLLKGLKS KSINVLIRDI VREQFKIFQN
410 420 430 440 450
DMQETVAQLF KTVSSLSEDL ESTRQIIQKV NESVVSIAAQ QKFVLVQENR
460 470 480 490 500
PTLTDIVELR NHIVNVRQEM TLTCEKPIKE LEVKQTHLEG ALEQEHSRSI
510 520 530 540 550
LYYESLNKTL SKLKEVHEQL LSTEQVSDQK NAPAAESVSN NVTEYMSTLH
560 570 580 590 600
ENIKKQSLMM LQMFEDLHIQ ESKINNLTVS LEMEKESLRG ECEDMLSKCR
610 620 630 640 650
NDFKFQLKDT EENLHVLNQT LAEVLFPMDN KMDKMSEQLN DLTYDMEILQ
660 670 680 690 700
PLLEQGASLR QTMTYEQPKE AIVIRKKIEN LTSAVNSLNF IIKELTKRHN
710 720 730 740 750
LLRNEVQGRD DALERRINEY ALEMEDGLNK TMTIINNAID FIQDNYALKE
760 770 780 790 800
TLSTIKDNSE IHHKCTSDME TILTFIPQFH RLNDSIQTLV NDNQRYNFVL
810 820 830 840 850
QVAKTLAGIP RDEKLNQSNF QKMYQMFNET TSQVRKYQQN MSHLEEKLLL
860 870 880 890 900
TTKISKNFET RLQDIESKVT QTLIPYYISV KKGSVVTNER DQALQLQVLN
910 920 930 940 950
SRFKALEAKS IHLSINFFSL NKTLHEVLTM CHNASTSVSE LNATIPKWIK
960 970 980 990 1000
HSLPDIQLLQ KGLTEFVEPI IQIKTQAALS NLTCCIDRSL PGSLANVVKS
1010 1020 1030 1040 1050
QKQVKSLPKK INALKKPTVN LTTVLIGRTQ RNTDNIIYPE EYSSCSRHPC
1060 1070 1080 1090 1100
QNGGTCINGR TSFTCACRHP FTGDNCTIKL VEENALAPDF SKGSYRYAPM
1110 1120 1130 1140 1150
VAFFASHTYG MTIPGPILFN NLDVNYGASY TPRTGKFRIP YLGVYVFKYT
1160 1170 1180 1190 1200
IESFSAHISG FLVVDGIDKL AFESENINSE IHCDRVLTGD ALLELNYGQE
1210 1220
VWLRLAKGTI PAKFPPVTTF SGYLLYRT
Length:1,228
Mass (Da):138,110
Last modified:April 3, 2007 - v3
Checksum:i270BCFBE85AA2F8F
GO
Isoform 2 (identifier: Q13201-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-104: Missing.
     377-1039: Missing.

Note: No experimental confirmation available.
Show »
Length:531
Mass (Da):58,170
Checksum:i80974ECCBAA1F993
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EPG1E7EPG1_HUMAN
Multimerin-1
MMRN1
970Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti217R → K in BAC86201 (PubMed:14702039).Curated1
Sequence conflicti223I → T in AAC52065 (PubMed:7629143).Curated1
Sequence conflicti982L → S in AAC52065 (PubMed:7629143).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03147158T → A. Corresponds to variant dbSNP:rs1442138Ensembl.1
Natural variantiVAR_031472805T → A. Corresponds to variant dbSNP:rs3756065Ensembl.1
Natural variantiVAR_031473883G → D. Corresponds to variant dbSNP:rs12646270Ensembl.1
Natural variantiVAR_031474964T → R1 PublicationCorresponds to variant dbSNP:rs17855885Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03661071 – 104Missing in isoform 2. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_036611377 – 1039Missing in isoform 2. 1 PublicationAdd BLAST663

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U27109 mRNA Translation: AAC52065.1
AK125557 mRNA Translation: BAC86201.1
AK313566 mRNA Translation: BAG36340.1
AC093759 Genomic DNA Translation: AAY40957.1
CH471057 Genomic DNA Translation: EAX06038.1
BC063848 mRNA Translation: AAH63848.1
CCDSiCCDS3635.1 [Q13201-1]
PIRiA57384
RefSeqiNP_031377.2, NM_007351.2 [Q13201-1]
XP_016863382.1, XM_017007893.1 [Q13201-1]
UniGeneiHs.268107

Genome annotation databases

EnsembliENST00000264790; ENSP00000264790; ENSG00000138722 [Q13201-1]
ENST00000394980; ENSP00000378431; ENSG00000138722 [Q13201-1]
GeneIDi22915
KEGGihsa:22915
UCSCiuc003hst.4 human [Q13201-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U27109 mRNA Translation: AAC52065.1
AK125557 mRNA Translation: BAC86201.1
AK313566 mRNA Translation: BAG36340.1
AC093759 Genomic DNA Translation: AAY40957.1
CH471057 Genomic DNA Translation: EAX06038.1
BC063848 mRNA Translation: AAH63848.1
CCDSiCCDS3635.1 [Q13201-1]
PIRiA57384
RefSeqiNP_031377.2, NM_007351.2 [Q13201-1]
XP_016863382.1, XM_017007893.1 [Q13201-1]
UniGeneiHs.268107

3D structure databases

ProteinModelPortaliQ13201
SMRiQ13201
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116577, 18 interactors
ComplexPortaliCPX-445 Multimerin-1 complex
CPX-460 Platelet glycoprotein Ia* complex
CPX-461 155 kDa platelet multimerin complex
IntActiQ13201, 3 interactors
STRINGi9606.ENSP00000264790

PTM databases

GlyConnecti668
iPTMnetiQ13201
PhosphoSitePlusiQ13201
UniCarbKBiQ13201

Polymorphism and mutation databases

BioMutaiMMRN1
DMDMi143811421

2D gel databases

OGPiQ13201

Proteomic databases

EPDiQ13201
MaxQBiQ13201
PaxDbiQ13201
PeptideAtlasiQ13201
PRIDEiQ13201
ProteomicsDBi59220
59221 [Q13201-2]

Protocols and materials databases

DNASUi22915
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264790; ENSP00000264790; ENSG00000138722 [Q13201-1]
ENST00000394980; ENSP00000378431; ENSG00000138722 [Q13201-1]
GeneIDi22915
KEGGihsa:22915
UCSCiuc003hst.4 human [Q13201-1]

Organism-specific databases

CTDi22915
DisGeNETi22915
EuPathDBiHostDB:ENSG00000138722.9
GeneCardsiMMRN1
H-InvDBiHIX0024584
HGNCiHGNC:7178 MMRN1
HPAiHPA035769
MIMi601456 gene
neXtProtiNX_Q13201
OpenTargetsiENSG00000138722
PharmGKBiPA30891
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEM1 Eukaryota
ENOG411182X LUCA
GeneTreeiENSGT00660000095560
HOGENOMiHOG000113610
HOVERGENiHBG108139
InParanoidiQ13201
OMAiCACRHPF
OrthoDBiEOG091G00VO
PhylomeDBiQ13201
TreeFamiTF336041

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation

Miscellaneous databases

GeneWikiiMMRN1
GenomeRNAii22915
PROiPR:Q13201
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138722 Expressed in 156 organ(s), highest expression level in lymph node
CleanExiHS_MMRN1
ExpressionAtlasiQ13201 baseline and differential
GenevisibleiQ13201 HS

Family and domain databases

Gene3Di2.60.120.40, 1 hit
InterProiView protein in InterPro
IPR001073 C1q_dom
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR011489 EMI_domain
IPR033188 MMRN1
IPR008983 Tumour_necrosis_fac-like_dom
PANTHERiPTHR15427:SF3 PTHR15427:SF3, 1 hit
PfamiView protein in Pfam
PF00386 C1q, 1 hit
PF00008 EGF, 1 hit
PF07546 EMI, 1 hit
PRINTSiPR00007 COMPLEMNTC1Q
SMARTiView protein in SMART
SM00110 C1Q, 1 hit
SM00181 EGF, 1 hit
SM00179 EGF_CA, 1 hit
SUPFAMiSSF49842 SSF49842, 1 hit
PROSITEiView protein in PROSITE
PS50871 C1Q, 1 hit
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 1 hit
PS51041 EMI, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMMRN1_HUMAN
AccessioniPrimary (citable) accession number: Q13201
Secondary accession number(s): Q4W5L1, Q6P3T8, Q6ZUL9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: April 3, 2007
Last modified: September 12, 2018
This is version 166 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again