UniProtKB - Q9Y6C2 (EMIL1_HUMAN)

BLAST

>sp|Q9Y6C2|EMIL1_HUMAN EMILIN-1 OS=Homo sapiens OX=9606 GN=EMILIN1 PE=1 SV=3
MAPRTLWSCYLCCLLTAAAGAASYPPRGFSLYTGSSGALSPGGPQAQIAPRPASRHRNWC
AYVVTRTVSCVLEDGVETYVKYQPCAWGQPQCPQSIMYRRFLRPRYRVAYKTVTDMEWRC
CQGYGGDDCAESPAPALGPASSTPRPLARPARPNLSGSSAGSPLSGLGGEGPGESEKVQQ
LEEQVQSLTKELQGLRGVLQGLSGRLAEDVQRAVETAFNGRQQPADAAARPGVHETLNEI
QHQLQLLDTRVSTHDQELGHLNNHHGGSSSSGGSRAPAPASAPPGPSEELLRQLEQRLQE
SCSVCLAGLDGFRRQQQEDRERLRAMEKLLASVEERQRHLAGLAVGRRPPQECCSPELGR
RLAELERRLDVVAGSVTVLSGRRGTELGGAAGQGGHPPGYTSLASRLSRLEDRFNSTLGP
SEEQEESWPGAPGGLSHWLPAARGRLEQLGGLLANVSGELGGRLDLLEEQVAGAMQACGQ
LCSGAPGEQDSQVSEILSALERRVLDSEGQLRLVGSGLHTVEAAGEARQATLEGLQEVVG
RLQDRVDAQDETAAEFTLRLNLTAARLGQLEGLLQAHGDEGCGACGGVQEELGRLRDGVE
RCSCPLLPPRGPGAGPGVGGPSRGPLDGFSVFGGSSGSALQALQGELSEVILSFSSLNDS
LNELQTTVEGQGADLADLGATKDRIISEINRLQQEATEHATESEERFRGLEEGQAQAGQC
PSLEGRLGRLEGVCERLDTVAGGLQGLREGLSRHVAGLWAGLRETNTTSQMQAALLEKLV
GGQAGLGRRLGALNSSLQLLEDRLHQLSLKDLTGPAGEAGPPGPPGLQGPPGPAGPPGSP
GKDGQEGPIGPPGPQGEQGVEGAPAAPVPQVAFSAALSLPRSEPGTVPFDRVLLNDGGYY
DPETGVFTAPLAGRYLLSAVLTGHRHEKVEAVLSRSNQGVARVDSGGYEPEGLENKPVAE
SQPSPGTLGVFSLILPLQAGDTVCVDLVMGQLAHSEEPLTIFSGALLYGDPELEHA

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History
Entry version 164 (07 Nov 2018)
Sequence version 3 (27 Sep 2017)
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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

extracellular matrix constituent conferring elasticity
Source: BHF-UCL
Inferred from high throughput direct assayⁱ
identical protein binding
Source: CAFA
Inferred from mutant phenotypeⁱ
- 18463100
integrin binding involved in cell-matrix adhesion
Source: CAFA
Inferred from mutant phenotypeⁱ
- 18463100

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

aortic valve morphogenesis Source: BHF-UCL
cell adhesion
Source: ProtInc
Traceable author statementⁱ
- 10358019
cell-matrix adhesion
Source: CAFA
Inferred from mutant phenotypeⁱ
- 18463100
cell migration
Source: CAFA
Inferred from mutant phenotypeⁱ
- 18463100
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 cell-substrate adhesion
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
positive regulation of extracellular matrix assembly Source: BHF-UCL
positive regulation of gene expression Source: BHF-UCL
protein homotrimerization
Source: CAFA
Inferred from mutant phenotypeⁱ
- 18463100

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Cell adhesion

Biological process

Cell adhesion

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2129379 Molecules associated with elastic fibres

Reactomeⁱ

R-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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000138080.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:19880 EMILIN1
MIMⁱ	130660 gene
neXtProtⁱ	NX_Q9Y6C2

Keywords - Cellular componentⁱ

Extracellular matrix, Secreted

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	11117
MalaCards human disease database More...MalaCardsⁱ	EMILIN1
Open Targets More...OpenTargetsⁱ	ENSG00000138080
Orphanetⁱ	485418 EMILIN-1-related connective tissue disease
PharmGKBⁱ	PA134922135

Polymorphism and mutation 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	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, Glycoprotein

Proteomic databases

EPDⁱ	Q9Y6C2
PaxDbⁱ	Q9Y6C2
PeptideAtlas More...PeptideAtlasⁱ	Q9Y6C2
PRIDEⁱ	Q9Y6C2
ProteomicsDBⁱ	86648

2D gel databases

REPRODUCTION-2DPAGE More...REPRODUCTION-2DPAGEⁱ	Q9Y6C2

REPRODUCTION-2DPAGEⁱ

Q9Y6C2

PTM databases

GlyConnectⁱ	1201
iPTMnetⁱ	Q9Y6C2
PhosphoSitePlusⁱ	Q9Y6C2

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

Bgeeⁱ	ENSG00000138080 Expressed in 165 organ(s), highest expression level in right ovary
CleanExⁱ	HS_EMILIN1
ExpressionAtlasⁱ	Q9Y6C2 baseline and differential

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA002822

HPAⁱ

HPA002822

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

With	Entry	#Exp.	IntAct
itself		4	EBI-744586,EBI-744586
BEX3	Q00994	4	EBI-11748557,EBI-741753
BEX5	Q5H9J7	3	EBI-744586,EBI-10243741
COG7	A0A0S2Z604	3	EBI-11748557,EBI-16430119
CTAGE5	O15320	3	EBI-744586,EBI-1050253
IFT20	Q8IY31	6	EBI-744586,EBI-744203
LAIR2	Q6ISS4	3	EBI-744586,EBI-10250491
MTMR9	Q96QG7	8	EBI-744586,EBI-744593
NMI	Q13287	4	EBI-744586,EBI-372942
PLAC9	Q5JTB6	5	EBI-744586,EBI-3923605
RIBC1	Q8N443	4	EBI-11748557,EBI-10265323
TAX1BP1	Q86VP1	3	EBI-744586,EBI-529518
ZC2HC1C	Q53FD0	3	EBI-744586,EBI-740767

GO - Molecular functionⁱ

identical protein binding
Source: CAFA
Inferred from mutant phenotypeⁱ
- 18463100
integrin binding involved in cell-matrix adhesion
Source: CAFA
Inferred from mutant phenotypeⁱ
- 18463100

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	116292, 58 interactors
ComplexPortalⁱ	CPX-421 EMILIN-1 complex
CORUMⁱ	Q9Y6C2
Database of interacting proteins More...DIPⁱ	DIP-35733N
IntActⁱ	Q9Y6C2, 39 interactors
Molecular INTeraction database More...MINTⁱ	Q9Y6C2
STRINGⁱ	9606.ENSP00000369677

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	872 – 876	Combined sources	5
Beta strandⁱ	884 – 886	Combined sources	3
Beta strandⁱ	891 – 897	Combined sources	7
Turnⁱ	902 – 905	Combined sources	4
Beta strandⁱ	906 – 908	Combined sources	3
Beta strandⁱ	913 – 919	Combined sources	7
Beta strandⁱ	929 – 933	Combined sources	5
Turnⁱ	935 – 937	Combined sources	3
Beta strandⁱ	942 – 946	Combined sources	5
Beta strandⁱ	972 – 974	Combined sources	3
Beta strandⁱ	982 – 986	Combined sources	5
Beta strandⁱ	1002 – 1009	Combined sources	8

Show more details

3D structure databases

Database of protein disorder More...DisProtⁱ	DP01063
ProteinModelPortalⁱ	Q9Y6C2
SMRⁱ	Q9Y6C2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q9Y6C2

EvolutionaryTraceⁱ

Q9Y6C2

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	56 – 131	EMIPROSITE-ProRule annotationAdd BLAST	76
Domainⁱ	814 – 864	Collagen-likeAdd BLAST	51
Domainⁱ	866 – 1013	C1qPROSITE-ProRule annotationAdd BLAST	148

Coiled coil

Feature key	Position(s)	DescriptionActions	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

Keywords - Domainⁱ

Coiled coil, Collagen, Signal

Phylogenomic databases

eggNOGⁱ	ENOG410IKJ2 Eukaryota ENOG4111F2M LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00660000095314
HOGENOMⁱ	HOG000112364
HOVERGENⁱ	HBG051473
InParanoidⁱ	Q9Y6C2
OMAⁱ	EEGWPGR
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
Pfam protein domain database More...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

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. Align Add to basket

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

Isoform 1 (identifier: Q9Y6C2-1) [UniParc]FASTA Add 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

Isoform 2 (identifier: Q9Y6C2-2) [UniParc]FASTA Add 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

« Hide

        10         20         30         40         50
MADLGATKDR IISEINRLQQ EATEHATESE ERFRGLEEGQ AQAGQCPSLE 
        60         70         80         90        100
GRLGRLEGVC ERLDTVAGGL QGLREGLSRH VAGLWAGLRE TNTTSQMQAA 
       110        120        130        140        150
LLEKLVGGQA GLGRRLGALN SSLQLLEDRL HQLSLKDLTG EGTKGPAGEA 
       160        170        180        190        200
GPPGPPGLQG PPGPAGPPGS PGKDGQEGPI GPPGPQGEQG VEGAPAAPVP 
       210        220        230        240        250
QVAFSAALSL PRSEPGTVPF DRVLLNDGGY YDPETGVFTA PLAGRYLLSA 
       260        270        280        290        300
VLTGHRHEKV EAVLSRSNQG VARVDSGGYE PEGLENKPVA ESQPSPGTLG 
       310        320        330        340 
VFSLILPLQA GDTVCVDLVM GQLAHSEEPL TIFSGALLYG DPELEHA

Note: No experimental confirmation available.

Show »

Length:347

Mass (Da):35,928

Checksum:ⁱ1AFAB73C44E6F09C

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	A0A0A0MT20	A0A0A0MT20_HUMAN		EMILIN-1 EMILIN-1	EMILIN1	347	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	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:rs36069611Ensembl.	1
Natural variantⁱVAR_046097	903	E → K. Corresponds to variant dbSNP:rs36045790Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS1733.1 [Q9Y6C2-1]
PIRⁱ	T08772
NCBI Reference Sequences More...RefSeqⁱ	NP_008977.1, NM_007046.3 [Q9Y6C2-1]
UniGeneⁱ	Hs.63348

Genome annotation databases

Ensemblⁱ	ENST00000380320; ENSP00000369677; ENSG00000138080 [Q9Y6C2-1]
GeneIDⁱ	11117
KEGGⁱ	hsa:11117
UCSC genome browser More...UCSCⁱ	uc002rii.5 human [Q9Y6C2-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6C2	Uncharacterized protein		PROCO		1022	UniRef90_Q9Y6C2
Uncharacterized protein		MACMU		1017
Elastin microfibril interfacer 1		SAIBB		1016
Uncharacterized protein		MANLE		1016
Uncharacterized protein		MACNE		1016
+37
Q9Y6C2-2	EMILIN-1 (Fragment)		HUMAN		347	UniRef90_Q9Y6C2-2
EMILIN1 isoform 3 (Fragment)		PONAB		346
EMILIN1 isoform 2 (Fragment)		PANTR		346

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6C2	EMILIN-1		MOUSE		1017	UniRef50_Q9Y6C2
Uncharacterized protein		PROCO		1022
Uncharacterized protein		MACMU		1017
EMILIN1 isoform 1		PANTR		1016
Uncharacterized protein		CERAT		1016
+166
Q9Y6C2-2	EMILIN-1 (Fragment)		HUMAN		347	UniRef50_Q9Y6C2-2
EMILIN1 isoform 3 (Fragment)		PONAB		346
EMILIN1 isoform 2 (Fragment)		PANTR		346
UPI000D625C2A		CYNSE		378

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]
UniGeneⁱ	Hs.63348

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
DisProtⁱ	DP01063
ProteinModelPortalⁱ	Q9Y6C2
SMRⁱ	Q9Y6C2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	116292, 58 interactors
ComplexPortalⁱ	CPX-421 EMILIN-1 complex
CORUMⁱ	Q9Y6C2
DIPⁱ	DIP-35733N
IntActⁱ	Q9Y6C2, 39 interactors
MINTⁱ	Q9Y6C2
STRINGⁱ	9606.ENSP00000369677

PTM databases

GlyConnectⁱ	1201
iPTMnetⁱ	Q9Y6C2
PhosphoSitePlusⁱ	Q9Y6C2

Polymorphism and mutation databases

BioMutaⁱ	EMILIN1
DMDMⁱ	205371751

2D gel databases

REPRODUCTION-2DPAGEⁱ	Q9Y6C2

REPRODUCTION-2DPAGEⁱ

Q9Y6C2

Proteomic databases

EPDⁱ	Q9Y6C2
PaxDbⁱ	Q9Y6C2
PeptideAtlasⁱ	Q9Y6C2
PRIDEⁱ	Q9Y6C2
ProteomicsDBⁱ	86648

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000380320; ENSP00000369677; ENSG00000138080 [Q9Y6C2-1]
GeneIDⁱ	11117
KEGGⁱ	hsa:11117
UCSCⁱ	uc002rii.5 human [Q9Y6C2-1]

Organism-specific databases

CTDⁱ	11117
DisGeNETⁱ	11117
EuPathDBⁱ	HostDB:ENSG00000138080.13
GeneCardsⁱ	EMILIN1
HGNCⁱ	HGNC:19880 EMILIN1
HPAⁱ	HPA002822
MalaCardsⁱ	EMILIN1
MIMⁱ	130660 gene
neXtProtⁱ	NX_Q9Y6C2
OpenTargetsⁱ	ENSG00000138080
Orphanetⁱ	485418 EMILIN-1-related connective tissue disease
PharmGKBⁱ	PA134922135
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IKJ2 Eukaryota ENOG4111F2M LUCA
GeneTreeⁱ	ENSGT00660000095314
HOGENOMⁱ	HOG000112364
HOVERGENⁱ	HBG051473
InParanoidⁱ	Q9Y6C2
OMAⁱ	EEGWPGR
PhylomeDBⁱ	Q9Y6C2
TreeFamⁱ	TF331033

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2129379 Molecules associated with elastic fibres

Reactomeⁱ

R-HSA-2129379 Molecules associated with elastic fibres

Miscellaneous databases

ChiTaRSⁱ	EMILIN1 human
EvolutionaryTraceⁱ	Q9Y6C2
GeneWikiⁱ	EMILIN1
GenomeRNAiⁱ	11117
Protein Ontology More...PROⁱ	PR:Q9Y6C2
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000138080 Expressed in 165 organ(s), highest expression level in right ovary
CleanExⁱ	HS_EMILIN1
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
ProtoNetⁱ	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:	November 7, 2018
	This is version 164 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, Complete proteome, Reference proteome

Documents

Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
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

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UniProtKB - Q9Y6C2 (EMIL1_HUMAN)

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EMILIN-1

EMILIN1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Enzyme and pathway databases

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Keywords - PTMi

Proteomic databases

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Gene expression databases

Organism-specific databases

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ