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Protein

EMILIN-1

Gene

EMILIN1

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

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

Its deposition precedes the appearance of elastin and is simultaneous with that of fibrillin 1.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres

Names & Taxonomyi

Protein namesi
Recommended name:
EMILIN-1
Alternative name(s):
Elastin microfibril interface-located protein 1
Short name:
Elastin microfibril interfacer 1
Gene namesi
Name:EMILIN1
Synonyms:EMI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000138080.13
HGNCiHGNC:19880 EMILIN1
MIMi130660 gene
neXtProtiNX_Q9Y6C2

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

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi11117
MalaCardsiEMILIN1
OpenTargetsiENSG00000138080
Orphaneti485418 EMILIN-1-related connective tissue disease
PharmGKBiPA134922135

Polymorphism and mutation databases

BioMutaiEMILIN1
DMDMi205371751

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 211 PublicationAdd BLAST21
ChainiPRO_000000781522 – 1016EMILIN-1Add BLAST995

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi60 ↔ 121PROSITE-ProRule annotation
Disulfide bondi85 ↔ 92PROSITE-ProRule annotation
Disulfide bondi120 ↔ 129PROSITE-ProRule annotation
Glycosylationi154N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi415N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi455N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi561N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi658N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi766N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi794N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9Y6C2
PaxDbiQ9Y6C2
PeptideAtlasiQ9Y6C2
PRIDEiQ9Y6C2
ProteomicsDBi86648

2D gel databases

REPRODUCTION-2DPAGEiQ9Y6C2

PTM databases

GlyConnecti1201
iPTMnetiQ9Y6C2
PhosphoSitePlusiQ9Y6C2

Expressioni

Tissue specificityi

Distributed in tissues where resilience and elastic recoil are prominent. Highest levels in the adult small intestine, aorta, lung, uterus, and appendix and in the fetal spleen, kidney, lung, and heart; intermediate expression was detected in adult liver, ovary, colon, stomach, lymph node and spleen; adult heart, bladder, prostate, adrenal gland, mammary gland, placenta and kidney showed low expression whereas a series of other adult tissues, including skeletal muscle and different regions of adult brain show no expression.1 Publication

Gene expression databases

BgeeiENSG00000138080 Expressed in 165 organ(s), highest expression level in right ovary
CleanExiHS_EMILIN1
ExpressionAtlasiQ9Y6C2 baseline and differential

Organism-specific databases

HPAiHPA002822

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 EMILIN2.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116292, 58 interactors
ComplexPortaliCPX-421 EMILIN-1 complex
CORUMiQ9Y6C2
DIPiDIP-35733N
IntActiQ9Y6C2, 39 interactors
MINTiQ9Y6C2
STRINGi9606.ENSP00000369677

Structurei

Secondary structure

11016
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP01063
ProteinModelPortaliQ9Y6C2
SMRiQ9Y6C2
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y6C2

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini56 – 131EMIPROSITE-ProRule annotationAdd BLAST76
Domaini814 – 864Collagen-likeAdd BLAST51
Domaini866 – 1013C1qPROSITE-ProRule annotationAdd BLAST148

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili216 – 256Sequence analysisAdd BLAST41
Coiled coili356 – 420Sequence analysisAdd BLAST65
Coiled coili576 – 603Sequence analysisAdd BLAST28
Coiled coili685 – 752Sequence analysisAdd BLAST68
Coiled coili835 – 857Sequence analysisAdd BLAST23

Keywords - Domaini

Coiled coil, Collagen, Signal

Phylogenomic databases

eggNOGiENOG410IKJ2 Eukaryota
ENOG4111F2M LUCA
GeneTreeiENSGT00660000095314
HOGENOMiHOG000112364
HOVERGENiHBG051473
InParanoidiQ9Y6C2
OMAiEEGWPGR
PhylomeDBiQ9Y6C2
TreeFamiTF331033

Family and domain databases

Gene3Di2.60.120.40, 1 hit
InterProiView protein in InterPro
IPR001073 C1q_dom
IPR008160 Collagen
IPR011489 EMI_domain
IPR008983 Tumour_necrosis_fac-like_dom
PfamiView protein in Pfam
PF00386 C1q, 1 hit
PF01391 Collagen, 1 hit
PF07546 EMI, 1 hit
SMARTiView protein in SMART
SM00110 C1Q, 1 hit
SUPFAMiSSF49842 SSF49842, 1 hit
PROSITEiView protein in PROSITE
PS50871 C1Q, 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: Q9Y6C2-1) [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
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
Length:1,016
Mass (Da):106,695
Last modified:September 27, 2017 - v3
Checksum:i6CF330238DD0EE26
GO
Isoform 2 (identifier: Q9Y6C2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-674: Missing.
     675-675: L → M
     813-813: T → TGEGTK

Note: No experimental confirmation available.
Show »
Length:347
Mass (Da):35,928
Checksum:i1AFAB73C44E6F09C
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MT20A0A0A0MT20_HUMAN
EMILIN-1
EMILIN1
347Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07759122A → 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_046095149R → Q1 PublicationCorresponds to variant dbSNP:rs2736976Ensembl.1
Natural variantiVAR_046096536Q → R. Corresponds to variant dbSNP:rs36069611Ensembl.1
Natural variantiVAR_046097903E → K. Corresponds to variant dbSNP:rs36045790Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0554781 – 674Missing in isoform 2. CuratedAdd BLAST674
Alternative sequenceiVSP_055479675L → M in isoform 2. Curated1
Alternative sequenceiVSP_055480813T → TGEGTK in isoform 2. Curated1

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
CCDSiCCDS1733.1 [Q9Y6C2-1]
PIRiT08772
RefSeqiNP_008977.1, NM_007046.3 [Q9Y6C2-1]
UniGeneiHs.63348

Genome annotation databases

EnsembliENST00000380320; ENSP00000369677; ENSG00000138080 [Q9Y6C2-1]
GeneIDi11117
KEGGihsa:11117
UCSCiuc002rii.5 human [Q9Y6C2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS1733.1 [Q9Y6C2-1]
PIRiT08772
RefSeqiNP_008977.1, NM_007046.3 [Q9Y6C2-1]
UniGeneiHs.63348

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KA3NMR-A/B/C867-1016[»]
2OIINMR-A/B/C867-1016[»]
DisProtiDP01063
ProteinModelPortaliQ9Y6C2
SMRiQ9Y6C2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116292, 58 interactors
ComplexPortaliCPX-421 EMILIN-1 complex
CORUMiQ9Y6C2
DIPiDIP-35733N
IntActiQ9Y6C2, 39 interactors
MINTiQ9Y6C2
STRINGi9606.ENSP00000369677

PTM databases

GlyConnecti1201
iPTMnetiQ9Y6C2
PhosphoSitePlusiQ9Y6C2

Polymorphism and mutation databases

BioMutaiEMILIN1
DMDMi205371751

2D gel databases

REPRODUCTION-2DPAGEiQ9Y6C2

Proteomic databases

EPDiQ9Y6C2
PaxDbiQ9Y6C2
PeptideAtlasiQ9Y6C2
PRIDEiQ9Y6C2
ProteomicsDBi86648

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380320; ENSP00000369677; ENSG00000138080 [Q9Y6C2-1]
GeneIDi11117
KEGGihsa:11117
UCSCiuc002rii.5 human [Q9Y6C2-1]

Organism-specific databases

CTDi11117
DisGeNETi11117
EuPathDBiHostDB:ENSG00000138080.13
GeneCardsiEMILIN1
HGNCiHGNC:19880 EMILIN1
HPAiHPA002822
MalaCardsiEMILIN1
MIMi130660 gene
neXtProtiNX_Q9Y6C2
OpenTargetsiENSG00000138080
Orphaneti485418 EMILIN-1-related connective tissue disease
PharmGKBiPA134922135
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKJ2 Eukaryota
ENOG4111F2M LUCA
GeneTreeiENSGT00660000095314
HOGENOMiHOG000112364
HOVERGENiHBG051473
InParanoidiQ9Y6C2
OMAiEEGWPGR
PhylomeDBiQ9Y6C2
TreeFamiTF331033

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres

Miscellaneous databases

ChiTaRSiEMILIN1 human
EvolutionaryTraceiQ9Y6C2
GeneWikiiEMILIN1
GenomeRNAii11117
PROiPR:Q9Y6C2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138080 Expressed in 165 organ(s), highest expression level in right ovary
CleanExiHS_EMILIN1
ExpressionAtlasiQ9Y6C2 baseline and differential

Family and domain databases

Gene3Di2.60.120.40, 1 hit
InterProiView protein in InterPro
IPR001073 C1q_dom
IPR008160 Collagen
IPR011489 EMI_domain
IPR008983 Tumour_necrosis_fac-like_dom
PfamiView protein in Pfam
PF00386 C1q, 1 hit
PF01391 Collagen, 1 hit
PF07546 EMI, 1 hit
SMARTiView protein in SMART
SM00110 C1Q, 1 hit
SUPFAMiSSF49842 SSF49842, 1 hit
PROSITEiView protein in PROSITE
PS50871 C1Q, 1 hit
PS51041 EMI, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiEMIL1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6C2
Secondary accession number(s): A0A0C4DFX3
, A5PL03, H0Y7A0, Q53SY9, Q96G58, Q96IH6, Q9UG76
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: September 27, 2017
Last modified: November 7, 2018
This is version 164 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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