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: Annotation score: 5 out of 5-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
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138722-MONOMER.
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

HGNCiHGNC:7178. MMRN1.

Subcellular locationi

GO - Cellular componenti

  • extracellular matrix Source: BHF-UCL
  • extracellular region Source: Reactome
  • platelet alpha granule lumen Source: Reactome
Complete GO annotation...

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).

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...)Sequence analysis1
Glycosylationi97N-linked (GlcNAc...)Sequence analysis1
Glycosylationi114N-linked (GlcNAc...)2 Publications1
Glycosylationi120N-linked (GlcNAc...)1 Publication1
Glycosylationi136N-linked (GlcNAc...) (complex)2 Publications1
Disulfide bondi211 ↔ 272By similarity
Disulfide bondi238 ↔ 245By similarity
Disulfide bondi271 ↔ 280By similarity
Glycosylationi344N-linked (GlcNAc...)1 Publication1
Glycosylationi431N-linked (GlcNAc...)Sequence analysis1
Glycosylationi507N-linked (GlcNAc...)Sequence analysis1
Glycosylationi541N-linked (GlcNAc...)Sequence analysis1
Glycosylationi576N-linked (GlcNAc...)Sequence analysis1
Glycosylationi618N-linked (GlcNAc...)1 Publication1
Glycosylationi680N-linked (GlcNAc...)Sequence analysis1
Glycosylationi729N-linked (GlcNAc...)2 Publications1
Glycosylationi783N-linked (GlcNAc...)Sequence analysis1
Glycosylationi816N-linked (GlcNAc...)Sequence analysis1
Glycosylationi828N-linked (GlcNAc...)Sequence analysis1
Glycosylationi840N-linked (GlcNAc...)Sequence analysis1
Glycosylationi921N-linked (GlcNAc...)Sequence analysis1
Glycosylationi933N-linked (GlcNAc...)Sequence analysis1
Glycosylationi942N-linked (GlcNAc...)1 Publication1
Glycosylationi981N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1020N-linked (GlcNAc...)1 Publication1
Disulfide bondi1045 ↔ 1056By similarity
Disulfide bondi1050 ↔ 1065By similarity
Disulfide bondi1067 ↔ 1076By similarity
Glycosylationi1075N-linked (GlcNAc...)Sequence 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.

2D gel databases

OGPiQ13201.

PTM databases

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.
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. 15 interactors.
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

Sequence similaritiesi

Contains 1 C1q domain.PROSITE-ProRule annotation
Contains 1 EGF-like domain.PROSITE-ProRule annotation
Contains 1 EMI domain.PROSITE-ProRule annotation

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.
InterProiIPR001073. 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.
[Graphical view]
PANTHERiPTHR15427:SF3. PTHR15427:SF3. 3 hits.
PfamiPF00386. C1q. 1 hit.
PF00008. EGF. 1 hit.
PF07546. EMI. 1 hit.
[Graphical view]
PRINTSiPR00007. COMPLEMNTC1Q.
SMARTiSM00110. C1Q. 1 hit.
SM00181. EGF. 1 hit.
SM00179. EGF_CA. 1 hit.
[Graphical view]
SUPFAMiSSF49842. SSF49842. 1 hit.
PROSITEiPS50871. C1Q. 1 hit.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 1 hit.
PS51041. EMI. 1 hit.
[Graphical view]

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

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

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 rs1442138dbSNPEnsembl.1
Natural variantiVAR_031472805T → A.Corresponds to variant rs3756065dbSNPEnsembl.1
Natural variantiVAR_031473883G → D.Corresponds to variant rs12646270dbSNPEnsembl.1
Natural variantiVAR_031474964T → R.1 PublicationCorresponds to variant rs17855885dbSNPEnsembl.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

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. 15 interactors.
IntActiQ13201. 3 interactors.
STRINGi9606.ENSP00000264790.

PTM databases

iPTMnetiQ13201.
PhosphoSitePlusiQ13201.
UniCarbKBiQ13201.

Polymorphism and mutation databases

BioMutaiMMRN1.
DMDMi143811421.

2D gel databases

OGPiQ13201.

Proteomic databases

EPDiQ13201.
MaxQBiQ13201.
PaxDbiQ13201.
PeptideAtlasiQ13201.
PRIDEiQ13201.

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.
GeneCardsiMMRN1.
H-InvDBHIX0024584.
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

BioCyciZFISH:ENSG00000138722-MONOMER.
ReactomeiR-HSA-114608. Platelet degranulation.

Miscellaneous databases

GeneWikiiMMRN1.
GenomeRNAii22915.
PROiQ13201.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138722.
CleanExiHS_MMRN1.
ExpressionAtlasiQ13201. baseline and differential.
GenevisibleiQ13201. HS.

Family and domain databases

Gene3Di2.60.120.40. 1 hit.
InterProiIPR001073. 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.
[Graphical view]
PANTHERiPTHR15427:SF3. PTHR15427:SF3. 3 hits.
PfamiPF00386. C1q. 1 hit.
PF00008. EGF. 1 hit.
PF07546. EMI. 1 hit.
[Graphical view]
PRINTSiPR00007. COMPLEMNTC1Q.
SMARTiSM00110. C1Q. 1 hit.
SM00181. EGF. 1 hit.
SM00179. EGF_CA. 1 hit.
[Graphical view]
SUPFAMiSSF49842. SSF49842. 1 hit.
PROSITEiPS50871. C1Q. 1 hit.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 1 hit.
PS51041. EMI. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMMRN1_HUMAN
AccessioniPrimary (citable) accession number: Q13201
Secondary accession number(s): Q4W5L1, Q6P3T8, Q6ZUL9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: April 3, 2007
Last modified: November 2, 2016
This is version 154 of the entry and version 3 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.