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Protein

EMILIN-3

Gene

EMILIN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript 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

HGNCiHGNC:16123. EMILIN3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164741521.

Polymorphism and mutation databases

BioMutaiEMILIN3.
DMDMi55584183.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence analysisAdd
BLAST
Chaini23 – 766744EMILIN-3PRO_0000007819Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi59 ↔ 121PROSITE-ProRule annotation
Glycosylationi66 – 661N-linked (GlcNAc...)Sequence analysis
Disulfide bondi86 ↔ 92PROSITE-ProRule annotation
Disulfide bondi120 ↔ 129PROSITE-ProRule annotation
Glycosylationi443 – 4431N-linked (GlcNAc...)Sequence analysis
Glycosylationi562 – 5621N-linked (GlcNAc...)Sequence analysis
Glycosylationi616 – 6161N-linked (GlcNAc...)Sequence analysis
Glycosylationi732 – 7321N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9NT22.
PaxDbiQ9NT22.
PRIDEiQ9NT22.

PTM databases

iPTMnetiQ9NT22.
PhosphoSiteiQ9NT22.

Expressioni

Gene expression databases

BgeeiQ9NT22.
CleanExiHS_EMILIN3.
GenevisibleiQ9NT22. HS.

Organism-specific databases

HPAiHPA044034.

Interactioni

Protein-protein interaction databases

BioGridi124673. 12 interactions.
IntActiQ9NT22. 1 interaction.
STRINGi9606.ENSP00000332806.

Structurei

3D structure databases

ProteinModelPortaliQ9NT22.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini55 – 13177EMIPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili467 – 49125Sequence analysisAdd
BLAST
Coiled coili615 – 66349Sequence analysisAdd
BLAST
Coiled coili726 – 76136Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 1 EMI domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Signal

Phylogenomic databases

eggNOGiENOG410IIJ1. Eukaryota.
ENOG4110DGR. LUCA.
GeneTreeiENSGT00660000095314.
HOGENOMiHOG000230955.
HOVERGENiHBG051475.
InParanoidiQ9NT22.
OMAiYVDRRLH.
OrthoDBiEOG74R1RX.
PhylomeDBiQ9NT22.
TreeFamiTF331033.

Family and domain databases

InterProiIPR011489. EMI_domain.
[Graphical view]
PfamiPF07546. EMI. 1 hit.
[Graphical view]
PROSITEiPS51041. EMI. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti532 – 5321S → N.1 Publication
Corresponds to variant rs2235592 [ dbSNP | Ensembl ].
VAR_053075

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 394394Missing in isoform 2. 1 PublicationVSP_055481Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB089149 mRNA. Translation: BAD11034.1.
AL031667 Genomic DNA. Translation: CAI42976.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB089149 mRNA. Translation: BAD11034.1.
AL031667 Genomic DNA. Translation: CAI42976.1.
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.

3D structure databases

ProteinModelPortaliQ9NT22.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124673. 12 interactions.
IntActiQ9NT22. 1 interaction.
STRINGi9606.ENSP00000332806.

PTM databases

iPTMnetiQ9NT22.
PhosphoSiteiQ9NT22.

Polymorphism and mutation databases

BioMutaiEMILIN3.
DMDMi55584183.

Proteomic databases

EPDiQ9NT22.
PaxDbiQ9NT22.
PRIDEiQ9NT22.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi90187.
GeneCardsiEMILIN3.
HGNCiHGNC:16123. EMILIN3.
HPAiHPA044034.
MIMi608929. gene.
neXtProtiNX_Q9NT22.
PharmGKBiPA164741521.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIJ1. Eukaryota.
ENOG4110DGR. LUCA.
GeneTreeiENSGT00660000095314.
HOGENOMiHOG000230955.
HOVERGENiHBG051475.
InParanoidiQ9NT22.
OMAiYVDRRLH.
OrthoDBiEOG74R1RX.
PhylomeDBiQ9NT22.
TreeFamiTF331033.

Enzyme and pathway databases

ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.

Miscellaneous databases

GenomeRNAii90187.
PROiQ9NT22.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NT22.
CleanExiHS_EMILIN3.
GenevisibleiQ9NT22. HS.

Family and domain databases

InterProiIPR011489. EMI_domain.
[Graphical view]
PfamiPF07546. EMI. 1 hit.
[Graphical view]
PROSITEiPS51041. EMI. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of a novel gene, EMILIN-5, and its possible involvement in skeletal development."
    Doi M., Nagano A., Nakamura Y.
    Biochem. Biophys. Res. Commun. 313:888-893(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Mesenchymal stem cell.
  2. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ASN-532.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 304-766 (ISOFORM 1).
    Tissue: Testis.

Entry informationi

Entry nameiEMIL3_HUMAN
AccessioniPrimary (citable) accession number: Q9NT22
Secondary accession number(s): Q495S5
, Q495S6, Q495S7, Q76KT4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: November 9, 2004
Last modified: June 8, 2016
This is version 107 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.