Q9NT22 (EMIL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	EMILIN3
Synonyms:	C20orf130, EMILIN5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	766 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Secreted › extracellular space › extracellular matrix By similarity.
Sequence similarities	Contains 1 EMI domain.

Ontologies

Keywords
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Domain	Coiled coil Signal
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 22	22	Potential
	Chain	23 – 766	744	EMILIN-3		PRO_0000007819
Regions
	Domain	55 – 131	77	EMI
	Coiled coil	467 – 491	25	Potential
	Coiled coil	615 – 663	49	Potential
	Coiled coil	726 – 761	36	Potential
Amino acid modifications
	Glycosylation	66	1	N-linked (GlcNAc...) Potential
	Glycosylation	443	1	N-linked (GlcNAc...) Potential
	Glycosylation	562	1	N-linked (GlcNAc...) Potential
	Glycosylation	616	1	N-linked (GlcNAc...) Potential
	Glycosylation	732	1	N-linked (GlcNAc...) Potential
	Disulfide bond	59 ↔ 121		By similarity
	Disulfide bond	86 ↔ 92		By similarity
	Disulfide bond	120 ↔ 129		By similarity
Natural variations
	Natural variant	532	1	S → N. Ref.3 Corresponds to variant rs2235592 [ dbSNP | Ensembl ].		VAR_053075

Sequences

	Sequence		Length	Mass (Da)
	Q9NT22 [UniParc]. Last modified November 9, 2004. Version 2. Checksum: 72B9BFC6DCD15DC5	FASTA	766	82,647
	10 20 30 40 50 60 MGRRRLLVWL CAVAALLSGA QARGTPLLAR PAPPGASRYS LYTTGWRPRL RPGPHKALCA 70 80 90 100 110 120 YVVHRNVTCI LQEGAESYVK AEYRQCRWGP KCPGTVTYRT VLRPKYKVGY KTVTDLAWRC 130 140 150 160 170 180 CPGFTGKRCP EHLTDHGAAS PQLEPEPQIP SGQLDPGPRP PSYSRAAPSP HGRKGPGLFG 190 200 210 220 230 240 ERLERLEGDV QRLAQTYGTL SGLVASHEDP NRMTGGPRAP AVPVGFGVIP EGLVGPGDRA 250 260 270 280 290 300 RGPLTPPLDE ILSKVTEVSN TLQTKVQLLD KVHGLALGHE AHLQRLREAP PSPLTSLALL 310 320 330 340 350 360 EEYVDRRLHR LWGSLLDGFE QKLQGVQSEC DLRVQEVRRQ CEEGQAASRR LHQSLDGREL 370 380 390 400 410 420 ALRQELSQLG SQLQGLSVSG RGSCCGQLAL INARMDGLER ALQAVTETQR GPGAPAGDEL 430 440 450 460 470 480 TRLSAAMLEG GVDGLLEGLE TLNGTEGGAR GCCLRLDMGG WGVGGFGTML EERVQSLEER 490 500 510 520 530 540 LATLAGELSH DSASPGRSAR PLVQTELAVL EQRLVSLETS CTPSTTSAIL DSLVAEVKAW 550 560 570 580 590 600 QSRSEALLRQ VASHAALLQQ LNGTVAEVQG QLAEGTGSSL QGEITLLKVN LNSVSKSLTG 610 620 630 640 650 660 LSDSVSQYSD AFLAANTSLD ERERKVEAEV QAIQEQVSSQ GSRLQAGHRQ VLNLRGELEQ 670 680 690 700 710 720 LKAGVAKVAS GLSRCQDTAQ KLQHTVGHFD QRVAQVEGAC RRLGLLAAGL DSLPTEPLRP 730 740 750 760 REGLWSHVDQ LNRTLAQHTQ DIARLRDDLL DCQAQLAEQV RPGQAN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]. 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], VARIANT ASN-532.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 304-766. Tissue: Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. AL137580 mRNA. Translation: CAB70822.1.
IPI	IPI00011730.
PIR	T46290.
RefSeq	NP_443078.1. NM_052846.1.
UniGene	Hs.726525.
3D structure databases
ProteinModelPortal	Q9NT22.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NT22. 1 interaction.
STRING	9606.ENSP00000332806.
PTM databases
PhosphoSite	Q9NT22.
Polymorphism databases
DMDM	55584183.
Proteomic databases
PaxDb	Q9NT22.
PRIDE	Q9NT22.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000332312; ENSP00000332806; ENSG00000183798.
GeneID	90187.
KEGG	hsa:90187.
UCSC	uc002xjy.1. human.
Organism-specific databases
CTD	90187.
GeneCards	GC20M039988.
HGNC	HGNC:16123. EMILIN3.
HPA	HPA044034.
MIM	608929. gene.
neXtProt	NX_Q9NT22.
PharmGKB	PA164741521.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG77485.
HOGENOM	HOG000230955.
HOVERGEN	HBG051475.
InParanoid	Q9NT22.
OMA	RQQCEEG.
OrthoDB	EOG405S0P.
PhylomeDB	Q9NT22.
Enzyme and pathway databases
Reactome	REACT_118779. Extracellular matrix organization.
Gene expression databases
ArrayExpress	Q9NT22.
Bgee	Q9NT22.
CleanEx	HS_EMILIN3.
Genevestigator	Q9NT22.
GermOnline	ENSG00000183798. Homo sapiens.
Family and domain databases
InterPro	IPR011489. EMI_domain. [Graphical view]
Pfam	PF07546. EMI. 1 hit. [Graphical view]
PROSITE	PS51041. EMI. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	90187.
NextBio	76571.
SOURCE	Search...

Entry information

Entry name

EMIL3_HUMAN

Accession

Primary (citable) accession number: Q9NT22
Secondary accession number(s): Q495S6, Q495S7, Q76KT4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2003
Last sequence update:	November 9, 2004
Last modified:	April 3, 2013
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.