UniProtKB - Q9Y6C2 (EMIL1_HUMAN)
EMILIN-1
EMILIN1
Functioni
May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.
Miscellaneous
GO - Molecular functioni
- extracellular matrix constituent conferring elasticity Source: GO_Central
- identical protein binding Source: IntAct
- integrin binding involved in cell-matrix adhesion Source: CAFA
GO - Biological processi
- aortic valve morphogenesis Source: BHF-UCL
- cell adhesion Source: ProtInc
- cell adhesion mediated by integrin Source: Ensembl
- cell-matrix adhesion Source: CAFA
- cell migration Source: CAFA
- elastic fiber assembly Source: BHF-UCL
- negative regulation of angiogenesis Source: BHF-UCL
- negative regulation of cell activation Source: BHF-UCL
- negative regulation of collagen biosynthetic process Source: BHF-UCL
- negative regulation of collagen fibril organization Source: BHF-UCL
- negative regulation of ERK1 and ERK2 cascade Source: BHF-UCL
- negative regulation of gene expression Source: BHF-UCL
- negative regulation of macrophage migration Source: BHF-UCL
- negative regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
- negative regulation of transforming growth factor beta receptor signaling pathway Source: BHF-UCL
- negative regulation of vascular endothelial growth factor receptor signaling pathway Source: BHF-UCL
- positive regulation of angiogenesis Source: Ensembl
- positive regulation of blood coagulation Source: ComplexPortal
- positive regulation of cell-substrate adhesion Source: Ensembl
- positive regulation of defense response to bacterium Source: ComplexPortal
- positive regulation of extracellular matrix assembly Source: BHF-UCL
- positive regulation of gene expression Source: BHF-UCL
- regulation of blood pressure Source: Ensembl
- regulation of cell population proliferation Source: Ensembl
Keywordsi
Biological process | Cell adhesion |
Enzyme and pathway databases
PathwayCommonsi | Q9Y6C2 |
Reactomei | R-HSA-2129379, Molecules associated with elastic fibres |
SignaLinki | Q9Y6C2 |
Names & Taxonomyi
Protein namesi | Recommended name: EMILIN-1Alternative name(s): Elastin microfibril interface-located protein 1 Short name: Elastin microfibril interfacer 1 |
Gene namesi | Name:EMILIN1 Synonyms:EMI |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19880, EMILIN1 |
MIMi | 130660, gene |
neXtProti | NX_Q9Y6C2 |
VEuPathDBi | HostDB:ENSG00000138080 |
Subcellular locationi
Extracellular region or secreted
- extracellular matrix 1 Publication
Note: Found mainly at the interface between amorphous elastin and microfibrils.1 Publication
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: Reactome
- extracellular space Source: UniProtKB
Plasma Membrane
- integrin alpha4-beta1 complex Source: CAFA
Other locations
- collagen trimer Source: UniProtKB-KW
- collagen-containing extracellular matrix Source: UniProtKB
- EMILIN complex Source: CAFA
Keywords - Cellular componenti
Extracellular matrix, SecretedPathology & Biotechi
Organism-specific databases
DisGeNETi | 11117 |
MalaCardsi | EMILIN1 |
OpenTargetsi | ENSG00000138080 |
Orphaneti | 485418, EMILIN-1-related connective tissue disease |
PharmGKBi | PA134922135 |
Miscellaneous databases
Pharosi | Q9Y6C2, Tbio |
Genetic variation databases
BioMutai | EMILIN1 |
DMDMi | 205371751 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | 1 PublicationAdd BLAST | 21 | |
ChainiPRO_0000007815 | 22 – 1016 | EMILIN-1Add BLAST | 995 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 60 ↔ 121 | PROSITE-ProRule annotation | ||
Disulfide bondi | 85 ↔ 92 | PROSITE-ProRule annotation | ||
Disulfide bondi | 120 ↔ 129 | PROSITE-ProRule annotation | ||
Glycosylationi | 154 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 415 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 455 | N-linked (GlcNAc...) asparagine2 Publications | 1 | |
Glycosylationi | 561 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 658 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 766 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 794 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q9Y6C2 |
jPOSTi | Q9Y6C2 |
MassIVEi | Q9Y6C2 |
MaxQBi | Q9Y6C2 |
PaxDbi | Q9Y6C2 |
PeptideAtlasi | Q9Y6C2 |
PRIDEi | Q9Y6C2 |
ProteomicsDBi | 35392 76828 86648 [Q9Y6C2-1] |
2D gel databases
REPRODUCTION-2DPAGEi | Q9Y6C2 |
PTM databases
GlyConnecti | 1201, 6 N-Linked glycans (2 sites) |
GlyGeni | Q9Y6C2, 13 sites, 5 N-linked glycans (2 sites), 3 O-linked glycans (6 sites) |
iPTMneti | Q9Y6C2 |
PhosphoSitePlusi | Q9Y6C2 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000138080, Expressed in right ovary and 182 other tissues |
ExpressionAtlasi | Q9Y6C2, baseline and differential |
Organism-specific databases
HPAi | ENSG00000138080, Low tissue specificity |
Interactioni
Subunit structurei
Homotrimer associated through a moderately stable interaction of the C-terminal globular C1q domains, allowing the nucleation of the triple helix and then a further quaternary assembly to higher-order polymers via intermolecular disulfide bonds.
Interacts with EMILIN2.
Interacts with EFEMP2; this interaction promotes the incorporation of EFEMP2 into the extracellular matrix (By similarity).
By similarity1 PublicationBinary interactionsi
Q9Y6C2
EMILIN1 - isoform 2 [Q9Y6C2-2]
GO - Molecular functioni
- identical protein binding Source: IntAct
- integrin binding involved in cell-matrix adhesion Source: CAFA
Protein-protein interaction databases
BioGRIDi | 116292, 114 interactors |
ComplexPortali | CPX-421, EMILIN-1 complex |
CORUMi | Q9Y6C2 |
DIPi | DIP-35733N |
IntActi | Q9Y6C2, 77 interactors |
MINTi | Q9Y6C2 |
STRINGi | 9606.ENSP00000369677 |
Miscellaneous databases
RNActi | Q9Y6C2, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9Y6C2 |
BMRBi | Q9Y6C2 |
SMRi | Q9Y6C2 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9Y6C2 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 56 – 131 | EMIPROSITE-ProRule annotationAdd BLAST | 76 | |
Domaini | 814 – 864 | Collagen-likeAdd BLAST | 51 | |
Domaini | 866 – 1013 | C1qPROSITE-ProRule annotationAdd BLAST | 148 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 135 – 182 | DisorderedSequence analysisAdd BLAST | 48 | |
Regioni | 257 – 288 | DisorderedSequence analysisAdd BLAST | 32 | |
Regioni | 383 – 402 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 416 – 435 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 811 – 863 | DisorderedSequence analysisAdd BLAST | 53 | |
Regioni | 942 – 961 | DisorderedSequence analysisAdd BLAST | 20 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 216 – 256 | Sequence analysisAdd BLAST | 41 | |
Coiled coili | 356 – 420 | Sequence analysisAdd BLAST | 65 | |
Coiled coili | 576 – 603 | Sequence analysisAdd BLAST | 28 | |
Coiled coili | 685 – 752 | Sequence analysisAdd BLAST | 68 | |
Coiled coili | 835 – 857 | Sequence analysisAdd BLAST | 23 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 262 – 276 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 818 – 838 | Pro residuesSequence analysisAdd BLAST | 21 |
Keywords - Domaini
Coiled coil, Collagen, SignalPhylogenomic databases
eggNOGi | ENOG502RIZH, Eukaryota |
GeneTreei | ENSGT01030000234633 |
InParanoidi | Q9Y6C2 |
OMAi | MAPSTFW |
OrthoDBi | 1205089at2759 |
PhylomeDBi | Q9Y6C2 |
TreeFami | TF331033 |
Family and domain databases
Gene3Di | 2.60.120.40, 1 hit |
InterProi | View protein in InterPro IPR001073, C1q_dom IPR008160, Collagen IPR011489, EMI_domain IPR008983, Tumour_necrosis_fac-like_dom |
Pfami | View protein in Pfam PF00386, C1q, 1 hit PF01391, Collagen, 1 hit PF07546, EMI, 1 hit |
SMARTi | View protein in SMART SM00110, C1Q, 1 hit |
SUPFAMi | SSF49842, SSF49842, 1 hit |
PROSITEi | View protein in PROSITE PS50871, C1Q, 1 hit PS51041, EMI, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAPRTLWSCY LCCLLTAAAG AASYPPRGFS LYTGSSGALS PGGPQAQIAP
60 70 80 90 100
RPASRHRNWC AYVVTRTVSC VLEDGVETYV KYQPCAWGQP QCPQSIMYRR
110 120 130 140 150
FLRPRYRVAY KTVTDMEWRC CQGYGGDDCA ESPAPALGPA SSTPRPLARP
160 170 180 190 200
ARPNLSGSSA GSPLSGLGGE GPGESEKVQQ LEEQVQSLTK ELQGLRGVLQ
210 220 230 240 250
GLSGRLAEDV QRAVETAFNG RQQPADAAAR PGVHETLNEI QHQLQLLDTR
260 270 280 290 300
VSTHDQELGH LNNHHGGSSS SGGSRAPAPA SAPPGPSEEL LRQLEQRLQE
310 320 330 340 350
SCSVCLAGLD GFRRQQQEDR ERLRAMEKLL ASVEERQRHL AGLAVGRRPP
360 370 380 390 400
QECCSPELGR RLAELERRLD VVAGSVTVLS GRRGTELGGA AGQGGHPPGY
410 420 430 440 450
TSLASRLSRL EDRFNSTLGP SEEQEESWPG APGGLSHWLP AARGRLEQLG
460 470 480 490 500
GLLANVSGEL GGRLDLLEEQ VAGAMQACGQ LCSGAPGEQD SQVSEILSAL
510 520 530 540 550
ERRVLDSEGQ LRLVGSGLHT VEAAGEARQA TLEGLQEVVG RLQDRVDAQD
560 570 580 590 600
ETAAEFTLRL NLTAARLGQL EGLLQAHGDE GCGACGGVQE ELGRLRDGVE
610 620 630 640 650
RCSCPLLPPR GPGAGPGVGG PSRGPLDGFS VFGGSSGSAL QALQGELSEV
660 670 680 690 700
ILSFSSLNDS LNELQTTVEG QGADLADLGA TKDRIISEIN RLQQEATEHA
710 720 730 740 750
TESEERFRGL EEGQAQAGQC PSLEGRLGRL EGVCERLDTV AGGLQGLREG
760 770 780 790 800
LSRHVAGLWA GLRETNTTSQ MQAALLEKLV GGQAGLGRRL GALNSSLQLL
810 820 830 840 850
EDRLHQLSLK DLTGPAGEAG PPGPPGLQGP PGPAGPPGSP GKDGQEGPIG
860 870 880 890 900
PPGPQGEQGV EGAPAAPVPQ VAFSAALSLP RSEPGTVPFD RVLLNDGGYY
910 920 930 940 950
DPETGVFTAP LAGRYLLSAV LTGHRHEKVE AVLSRSNQGV ARVDSGGYEP
960 970 980 990 1000
EGLENKPVAE SQPSPGTLGV FSLILPLQAG DTVCVDLVMG QLAHSEEPLT
1010
IFSGALLYGD PELEHA
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MT20 | A0A0A0MT20_HUMAN | EMILIN-1 | EMILIN1 | 347 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077591 | 22 | A → T Found in a patient with connective tissue disorder and peripheral neuropathy; unknown pathological significance; decreased secretion; accumulates in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs753862645EnsemblClinVar. | 1 | |
Natural variantiVAR_046095 | 149 | R → Q1 PublicationCorresponds to variant dbSNP:rs2736976Ensembl. | 1 | |
Natural variantiVAR_046096 | 536 | Q → R. Corresponds to variant dbSNP:rs36069611EnsemblClinVar. | 1 | |
Natural variantiVAR_046097 | 903 | E → K. Corresponds to variant dbSNP:rs36045790Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055478 | 1 – 674 | Missing in isoform 2. CuratedAdd BLAST | 674 | |
Alternative sequenceiVSP_055479 | 675 | L → M in isoform 2. Curated | 1 | |
Alternative sequenceiVSP_055480 | 813 | T → TGEGTK in isoform 2. Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF088916 mRNA Translation: AAD42161.1 AF162780 Genomic DNA Translation: AAF25006.1 AC013403 Genomic DNA Translation: AAX93166.1 KF459615 Genomic DNA No translation available. CH471053 Genomic DNA Translation: EAX00645.1 BC007530 mRNA Translation: AAH07530.1 BC009947 mRNA Translation: AAH09947.2 BC136279 mRNA Translation: AAI36280.1 BC142688 mRNA Translation: AAI42689.1 AL050138 mRNA Translation: CAB43287.2 |
CCDSi | CCDS1733.1 [Q9Y6C2-1] |
PIRi | T08772 |
RefSeqi | NP_008977.1, NM_007046.3 [Q9Y6C2-1] |
Genome annotation databases
Ensembli | ENST00000380320.9; ENSP00000369677.4; ENSG00000138080.14 |
GeneIDi | 11117 |
KEGGi | hsa:11117 |
MANE-Selecti | ENST00000380320.9; ENSP00000369677.4; NM_007046.4; NP_008977.1 |
UCSCi | uc002rii.5, human [Q9Y6C2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF088916 mRNA Translation: AAD42161.1 AF162780 Genomic DNA Translation: AAF25006.1 AC013403 Genomic DNA Translation: AAX93166.1 KF459615 Genomic DNA No translation available. CH471053 Genomic DNA Translation: EAX00645.1 BC007530 mRNA Translation: AAH07530.1 BC009947 mRNA Translation: AAH09947.2 BC136279 mRNA Translation: AAI36280.1 BC142688 mRNA Translation: AAI42689.1 AL050138 mRNA Translation: CAB43287.2 |
CCDSi | CCDS1733.1 [Q9Y6C2-1] |
PIRi | T08772 |
RefSeqi | NP_008977.1, NM_007046.3 [Q9Y6C2-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2KA3 | NMR | - | A/B/C | 867-1016 | [»] | |
2OII | NMR | - | A/B/C | 867-1016 | [»] | |
AlphaFoldDBi | Q9Y6C2 | |||||
BMRBi | Q9Y6C2 | |||||
SMRi | Q9Y6C2 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116292, 114 interactors |
ComplexPortali | CPX-421, EMILIN-1 complex |
CORUMi | Q9Y6C2 |
DIPi | DIP-35733N |
IntActi | Q9Y6C2, 77 interactors |
MINTi | Q9Y6C2 |
STRINGi | 9606.ENSP00000369677 |
PTM databases
GlyConnecti | 1201, 6 N-Linked glycans (2 sites) |
GlyGeni | Q9Y6C2, 13 sites, 5 N-linked glycans (2 sites), 3 O-linked glycans (6 sites) |
iPTMneti | Q9Y6C2 |
PhosphoSitePlusi | Q9Y6C2 |
Genetic variation databases
BioMutai | EMILIN1 |
DMDMi | 205371751 |
2D gel databases
REPRODUCTION-2DPAGEi | Q9Y6C2 |
Proteomic databases
EPDi | Q9Y6C2 |
jPOSTi | Q9Y6C2 |
MassIVEi | Q9Y6C2 |
MaxQBi | Q9Y6C2 |
PaxDbi | Q9Y6C2 |
PeptideAtlasi | Q9Y6C2 |
PRIDEi | Q9Y6C2 |
ProteomicsDBi | 35392 76828 86648 [Q9Y6C2-1] |
Protocols and materials databases
Antibodypediai | 1001, 199 antibodies from 25 providers |
DNASUi | 11117 |
Genome annotation databases
Ensembli | ENST00000380320.9; ENSP00000369677.4; ENSG00000138080.14 |
GeneIDi | 11117 |
KEGGi | hsa:11117 |
MANE-Selecti | ENST00000380320.9; ENSP00000369677.4; NM_007046.4; NP_008977.1 |
UCSCi | uc002rii.5, human [Q9Y6C2-1] |
Organism-specific databases
CTDi | 11117 |
DisGeNETi | 11117 |
GeneCardsi | EMILIN1 |
HGNCi | HGNC:19880, EMILIN1 |
HPAi | ENSG00000138080, Low tissue specificity |
MalaCardsi | EMILIN1 |
MIMi | 130660, gene |
neXtProti | NX_Q9Y6C2 |
OpenTargetsi | ENSG00000138080 |
Orphaneti | 485418, EMILIN-1-related connective tissue disease |
PharmGKBi | PA134922135 |
VEuPathDBi | HostDB:ENSG00000138080 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RIZH, Eukaryota |
GeneTreei | ENSGT01030000234633 |
InParanoidi | Q9Y6C2 |
OMAi | MAPSTFW |
OrthoDBi | 1205089at2759 |
PhylomeDBi | Q9Y6C2 |
TreeFami | TF331033 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y6C2 |
Reactomei | R-HSA-2129379, Molecules associated with elastic fibres |
SignaLinki | Q9Y6C2 |
Miscellaneous databases
BioGRID-ORCSi | 11117, 11 hits in 1070 CRISPR screens |
ChiTaRSi | EMILIN1, human |
EvolutionaryTracei | Q9Y6C2 |
GeneWikii | EMILIN1 |
GenomeRNAii | 11117 |
Pharosi | Q9Y6C2, Tbio |
PROi | PR:Q9Y6C2 |
RNActi | Q9Y6C2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000138080, Expressed in right ovary and 182 other tissues |
ExpressionAtlasi | Q9Y6C2, baseline and differential |
Family and domain databases
Gene3Di | 2.60.120.40, 1 hit |
InterProi | View protein in InterPro IPR001073, C1q_dom IPR008160, Collagen IPR011489, EMI_domain IPR008983, Tumour_necrosis_fac-like_dom |
Pfami | View protein in Pfam PF00386, C1q, 1 hit PF01391, Collagen, 1 hit PF07546, EMI, 1 hit |
SMARTi | View protein in SMART SM00110, C1Q, 1 hit |
SUPFAMi | SSF49842, SSF49842, 1 hit |
PROSITEi | View protein in PROSITE PS50871, C1Q, 1 hit PS51041, EMI, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | EMIL1_HUMAN | |
Accessioni | Q9Y6C2Primary (citable) accession number: Q9Y6C2 Secondary accession number(s): A0A0C4DFX3 Q9UG76 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 3, 2003 |
Last sequence update: | September 27, 2017 | |
Last modified: | May 25, 2022 | |
This is version 187 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references