Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 167 (13 Feb 2019)
Sequence version 3 (27 Sep 2017)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

EMILIN-1

Gene

EMILIN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2129379 Molecules associated with elastic fibres

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
EMILIN-1
Alternative name(s):
Elastin microfibril interface-located protein 1
Short name:
Elastin microfibril interfacer 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EMILIN1
Synonyms:EMI
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000138080.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19880 EMILIN1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
130660 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y6C2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
11117

MalaCards human disease database

More...
MalaCardsi
EMILIN1

Open Targets

More...
OpenTargetsi
ENSG00000138080

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
485418 EMILIN-1-related connective tissue disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134922135

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EMILIN1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
205371751

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 211 PublicationAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000781522 – 1016EMILIN-1Add BLAST995

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi60 ↔ 121PROSITE-ProRule annotation
Disulfide bondi85 ↔ 92PROSITE-ProRule annotation
Disulfide bondi120 ↔ 129PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y6C2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y6C2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y6C2

PeptideAtlas

More...
PeptideAtlasi
Q9Y6C2

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y6C2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
86648

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
Q9Y6C2

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1201

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y6C2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y6C2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138080 Expressed in 165 organ(s), highest expression level in right ovary

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y6C2 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA002822

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116292, 61 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-421 EMILIN-1 complex

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9Y6C2

Database of interacting proteins

More...
DIPi
DIP-35733N

Protein interaction database and analysis system

More...
IntActi
Q9Y6C2, 38 interactors

Molecular INTeraction database

More...
MINTi
Q9Y6C2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000369677

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

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 entryMethodResolution (Å)ChainPositionsPDBsum
2KA3NMR-A/B/C867-1016[»]
2OIINMR-A/B/C867-1016[»]

Database of protein disorder

More...
DisProti
DP01063

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9Y6C2

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9Y6C2

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9Y6C2

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini56 – 131EMIPROSITE-ProRule annotationAdd BLAST76
Domaini814 – 864Collagen-likeAdd BLAST51
Domaini866 – 1013C1qPROSITE-ProRule annotationAdd BLAST148

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IKJ2 Eukaryota
ENOG4111F2M LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153767

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112364

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051473

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y6C2

Identification of Orthologs from Complete Genome Data

More...
OMAi
EEGWPGR

Database of Orthologous Groups

More...
OrthoDBi
1205089at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y6C2

TreeFam database of animal gene trees

More...
TreeFami
TF331033

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.120.40, 1 hit

Integrated resource of protein families, domains and functional sites

More...
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

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00110 C1Q, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49842 SSF49842, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50871 C1Q, 1 hit
PS51041 EMI, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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]

Protein sequence database of the Protein Information Resource

More...
PIRi
T08772

NCBI Reference Sequences

More...
RefSeqi
NP_008977.1, NM_007046.3 [Q9Y6C2-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.63348

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000380320; ENSP00000369677; ENSG00000138080 [Q9Y6C2-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
11117

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:11117

UCSC genome browser

More...
UCSCi
uc002rii.5 human [Q9Y6C2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 61 interactors
ComplexPortaliCPX-421 EMILIN-1 complex
CORUMiQ9Y6C2
DIPiDIP-35733N
IntActiQ9Y6C2, 38 interactors
MINTiQ9Y6C2
STRINGi9606.ENSP00000369677

PTM databases

GlyConnecti1201
iPTMnetiQ9Y6C2
PhosphoSitePlusiQ9Y6C2

Polymorphism and mutation databases

BioMutaiEMILIN1
DMDMi205371751

2D gel databases

REPRODUCTION-2DPAGEiQ9Y6C2

Proteomic databases

EPDiQ9Y6C2
jPOSTiQ9Y6C2
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

Comparative Toxicogenomics Database

More...
CTDi
11117
DisGeNETi11117
EuPathDBiHostDB:ENSG00000138080.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EMILIN1
HGNCiHGNC:19880 EMILIN1
HPAiHPA002822
MalaCardsiEMILIN1
MIMi130660 gene
neXtProtiNX_Q9Y6C2
OpenTargetsiENSG00000138080
Orphaneti485418 EMILIN-1-related connective tissue disease
PharmGKBiPA134922135

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IKJ2 Eukaryota
ENOG4111F2M LUCA
GeneTreeiENSGT00940000153767
HOGENOMiHOG000112364
HOVERGENiHBG051473
InParanoidiQ9Y6C2
OMAiEEGWPGR
OrthoDBi1205089at2759
PhylomeDBiQ9Y6C2
TreeFamiTF331033

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
EMILIN1 human
EvolutionaryTraceiQ9Y6C2

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EMILIN1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
11117

Protein Ontology

More...
PROi
PR:Q9Y6C2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138080 Expressed in 165 organ(s), highest expression level in right ovary
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEMIL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y6C2
Secondary accession number(s): A0A0C4DFX3
, A5PL03, H0Y7A0, Q53SY9, Q96G58, Q96IH6, Q9UG76
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: September 27, 2017
Last modified: February 13, 2019
This is version 167 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. 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