Human Gene EMILIN3 (ENST00000332312.4_8) from GENCODE V47lift37
  Description: elastin microfibril interfacer 3 (from RefSeq NM_052846.2)
Gencode Transcript: ENST00000332312.4_8
Gencode Gene: ENSG00000183798.5_10
Transcript (Including UTRs)
   Position: hg19 chr20:39,988,602-39,995,458 Size: 6,857 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr20:39,989,908-39,995,274 Size: 5,367 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:39,988,602-39,995,458)mRNA (may differ from genome)Protein (766 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EMIL3_HUMAN
DESCRIPTION: RecName: Full=EMILIN-3; AltName: Full=EMILIN-5; AltName: Full=Elastin microfibril interface-located protein 3; Short=Elastin microfibril interfacer 3; AltName: Full=Elastin microfibril interface-located protein 5; Short=Elastin microfibril interfacer 5; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
SIMILARITY: Contains 1 EMI domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.30 RPKM in Nerve - Tibial
Total median expression: 26.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -107.10184-0.582 Picture PostScript Text
3' UTR -490.101306-0.375 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011489 - EMI_domain

Pfam Domains:
PF07546 - EMI domain

SCOP Domains:
90257 - Myosin rod fragments
57997 - Tropomyosin
161270 - PspA lactotransferrin-binding region
58100 - Bacterial hemolysins
58104 - Methyl-accepting chemotaxis protein (MCP) signaling domain

ModBase Predicted Comparative 3D Structure on Q9NT22
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  KJ899895 - Synthetic construct Homo sapiens clone ccsbBroadEn_09289 EMILIN3 gene, encodes complete protein.
LF206005 - JP 2014500723-A/13508: Polycomb-Associated Non-Coding RNAs.
AL137580 - Homo sapiens mRNA; cDNA DKFZp434A2410 (from clone DKFZp434A2410).
AB089149 - Homo sapiens emilin C20orf130 mRNA for hypothetical protein emilin like chromosome 20 open reading frame 130, complete cds.
JD224646 - Sequence 205670 from Patent EP1572962.
JD115017 - Sequence 96041 from Patent EP1572962.
JD386738 - Sequence 367762 from Patent EP1572962.
JD210177 - Sequence 191201 from Patent EP1572962.
JD098192 - Sequence 79216 from Patent EP1572962.
JD415551 - Sequence 396575 from Patent EP1572962.
JD099245 - Sequence 80269 from Patent EP1572962.
JD437759 - Sequence 418783 from Patent EP1572962.
JD299222 - Sequence 280246 from Patent EP1572962.
JD437388 - Sequence 418412 from Patent EP1572962.
JD265764 - Sequence 246788 from Patent EP1572962.
JD537787 - Sequence 518811 from Patent EP1572962.
JD126323 - Sequence 107347 from Patent EP1572962.
JD521893 - Sequence 502917 from Patent EP1572962.
JD093556 - Sequence 74580 from Patent EP1572962.
JD043333 - Sequence 24357 from Patent EP1572962.
JD096752 - Sequence 77776 from Patent EP1572962.
JD226175 - Sequence 207199 from Patent EP1572962.
JD386705 - Sequence 367729 from Patent EP1572962.
JD067136 - Sequence 48160 from Patent EP1572962.
JD477569 - Sequence 458593 from Patent EP1572962.
JD492482 - Sequence 473506 from Patent EP1572962.
JD075067 - Sequence 56091 from Patent EP1572962.
JD134764 - Sequence 115788 from Patent EP1572962.
JD392647 - Sequence 373671 from Patent EP1572962.
JD439837 - Sequence 420861 from Patent EP1572962.
JD184776 - Sequence 165800 from Patent EP1572962.
JD333917 - Sequence 314941 from Patent EP1572962.
JD532055 - Sequence 513079 from Patent EP1572962.
JD384384 - Sequence 365408 from Patent EP1572962.
BC101043 - Homo sapiens elastin microfibril interfacer 3, mRNA (cDNA clone MGC:119498 IMAGE:40007928), complete cds.
BC101044 - Homo sapiens elastin microfibril interfacer 3, mRNA (cDNA clone IMAGE:40007929).
BC101045 - Homo sapiens elastin microfibril interfacer 3, mRNA (cDNA clone MGC:119500 IMAGE:40007932), complete cds.
BC101046 - Homo sapiens elastin microfibril interfacer 3, mRNA (cDNA clone IMAGE:40007933), complete cds.
JD520507 - Sequence 501531 from Patent EP1572962.
JD377838 - Sequence 358862 from Patent EP1572962.
JD053410 - Sequence 34434 from Patent EP1572962.
JD152487 - Sequence 133511 from Patent EP1572962.
JD470439 - Sequence 451463 from Patent EP1572962.
JD341992 - Sequence 323016 from Patent EP1572962.
LF350504 - JP 2014500723-A/158007: Polycomb-Associated Non-Coding RNAs.
JD337035 - Sequence 318059 from Patent EP1572962.
JD072595 - Sequence 53619 from Patent EP1572962.
JD219486 - Sequence 200510 from Patent EP1572962.
JD076621 - Sequence 57645 from Patent EP1572962.
JD310843 - Sequence 291867 from Patent EP1572962.
LF350505 - JP 2014500723-A/158008: Polycomb-Associated Non-Coding RNAs.
LF211863 - JP 2014500723-A/19366: Polycomb-Associated Non-Coding RNAs.
MA586081 - JP 2018138019-A/158007: Polycomb-Associated Non-Coding RNAs.
MA586082 - JP 2018138019-A/158008: Polycomb-Associated Non-Coding RNAs.
MA441582 - JP 2018138019-A/13508: Polycomb-Associated Non-Coding RNAs.
MA447440 - JP 2018138019-A/19366: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C20orf130, EMIL3_HUMAN, EMILIN5, ENST00000332312.1, ENST00000332312.2, ENST00000332312.3, NM_052846, Q495S5, Q495S6, Q495S7, Q76KT4, Q9NT22, uc317tkh.1, uc317tkh.2
UCSC ID: ENST00000332312.4_8
RefSeq Accession: NM_052846.2
Protein: Q9NT22 (aka EMIL3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.