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Protein

EMILIN-3

Gene

EMILIN3

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

Functioni

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres

Names & Taxonomyi

Protein namesi
Recommended name:
EMILIN-3
Alternative name(s):
EMILIN-5
Elastin microfibril interface-located protein 3
Short name:
Elastin microfibril interfacer 3
Elastin microfibril interface-located protein 5
Short name:
Elastin microfibril interfacer 5
Gene namesi
Name:EMILIN3
Synonyms:C20orf130, EMILIN5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000183798.4
HGNCiHGNC:16123 EMILIN3
MIMi608929 gene
neXtProtiNX_Q9NT22

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

DisGeNETi90187
OpenTargetsiENSG00000183798
PharmGKBiPA164741521

Polymorphism and mutation databases

BioMutaiEMILIN3
DMDMi55584183

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000000781923 – 766EMILIN-3Add BLAST744

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi59 ↔ 121PROSITE-ProRule annotation
Glycosylationi66N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi86 ↔ 92PROSITE-ProRule annotation
Disulfide bondi120 ↔ 129PROSITE-ProRule annotation
Glycosylationi443N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi562N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi616N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi732N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9NT22
PaxDbiQ9NT22
PeptideAtlasiQ9NT22
PRIDEiQ9NT22

PTM databases

iPTMnetiQ9NT22
PhosphoSitePlusiQ9NT22

Expressioni

Gene expression databases

BgeeiENSG00000183798
CleanExiHS_EMILIN3
GenevisibleiQ9NT22 HS

Organism-specific databases

HPAiHPA044034
HPA059912

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124673, 17 interactors
IntActiQ9NT22, 5 interactors
STRINGi9606.ENSP00000332806

Structurei

3D structure databases

ProteinModelPortaliQ9NT22
SMRiQ9NT22
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini55 – 131EMIPROSITE-ProRule annotationAdd BLAST77

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili467 – 491Sequence analysisAdd BLAST25
Coiled coili615 – 663Sequence analysisAdd BLAST49
Coiled coili726 – 761Sequence analysisAdd BLAST36

Keywords - Domaini

Coiled coil, Signal

Phylogenomic databases

eggNOGiENOG410IIJ1 Eukaryota
ENOG4110DGR LUCA
GeneTreeiENSGT00660000095314
HOGENOMiHOG000230955
HOVERGENiHBG051475
InParanoidiQ9NT22
OMAiYVDRRLH
OrthoDBiEOG091G0C3E
PhylomeDBiQ9NT22
TreeFamiTF331033

Family and domain databases

InterProiView protein in InterPro
IPR011489 EMI_domain
PfamiView protein in Pfam
PF07546 EMI, 1 hit
PROSITEiView protein in PROSITE
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

Isoform 1 (identifier: Q9NT22-1) [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
MGRRRLLVWL CAVAALLSGA QARGTPLLAR PAPPGASRYS LYTTGWRPRL
60 70 80 90 100
RPGPHKALCA YVVHRNVTCI LQEGAESYVK AEYRQCRWGP KCPGTVTYRT
110 120 130 140 150
VLRPKYKVGY KTVTDLAWRC CPGFTGKRCP EHLTDHGAAS PQLEPEPQIP
160 170 180 190 200
SGQLDPGPRP PSYSRAAPSP HGRKGPGLFG ERLERLEGDV QRLAQTYGTL
210 220 230 240 250
SGLVASHEDP NRMTGGPRAP AVPVGFGVIP EGLVGPGDRA RGPLTPPLDE
260 270 280 290 300
ILSKVTEVSN TLQTKVQLLD KVHGLALGHE AHLQRLREAP PSPLTSLALL
310 320 330 340 350
EEYVDRRLHR LWGSLLDGFE QKLQGVQSEC DLRVQEVRRQ CEEGQAASRR
360 370 380 390 400
LHQSLDGREL ALRQELSQLG SQLQGLSVSG RGSCCGQLAL INARMDGLER
410 420 430 440 450
ALQAVTETQR GPGAPAGDEL TRLSAAMLEG GVDGLLEGLE TLNGTEGGAR
460 470 480 490 500
GCCLRLDMGG WGVGGFGTML EERVQSLEER LATLAGELSH DSASPGRSAR
510 520 530 540 550
PLVQTELAVL EQRLVSLETS CTPSTTSAIL DSLVAEVKAW QSRSEALLRQ
560 570 580 590 600
VASHAALLQQ LNGTVAEVQG QLAEGTGSSL QGEITLLKVN LNSVSKSLTG
610 620 630 640 650
LSDSVSQYSD AFLAANTSLD ERERKVEAEV QAIQEQVSSQ GSRLQAGHRQ
660 670 680 690 700
VLNLRGELEQ LKAGVAKVAS GLSRCQDTAQ KLQHTVGHFD QRVAQVEGAC
710 720 730 740 750
RRLGLLAAGL DSLPTEPLRP REGLWSHVDQ LNRTLAQHTQ DIARLRDDLL
760
DCQAQLAEQV RPGQAN
Length:766
Mass (Da):82,647
Last modified:November 9, 2004 - v2
Checksum:i72B9BFC6DCD15DC5
GO
Isoform 2 (identifier: Q9NT22-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-394: Missing.

Note: No experimental confirmation available.
Show »
Length:372
Mass (Da):39,603
Checksum:i7CF870E41A29FD8C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053075532S → N1 PublicationCorresponds to variant dbSNP:rs2235592Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0554811 – 394Missing in isoform 2. 1 PublicationAdd BLAST394

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB089149 mRNA Translation: BAD11034.1
AL031667 Genomic DNA No translation available.
BC101043 mRNA Translation: AAI01044.1
BC101044 mRNA No translation available.
BC101045 mRNA Translation: AAI01046.1
BC101046 mRNA Translation: AAI01047.1
AL137580 mRNA Translation: CAB70822.1
CCDSiCCDS13316.1 [Q9NT22-1]
PIRiT46290
RefSeqiNP_443078.1, NM_052846.1 [Q9NT22-1]
UniGeneiHs.726525

Genome annotation databases

EnsembliENST00000332312; ENSP00000332806; ENSG00000183798 [Q9NT22-1]
GeneIDi90187
KEGGihsa:90187
UCSCiuc002xjy.2 human [Q9NT22-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEMIL3_HUMAN
AccessioniPrimary (citable) accession number: Q9NT22
Secondary accession number(s): Q495S5
, Q495S6, Q495S7, Q76KT4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: November 9, 2004
Last modified: January 31, 2018
This is version 118 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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

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