Human Gene ELN (ENST00000252034.12) from GENCODE V43
  Description: Homo sapiens elastin (ELN), transcript variant 1, mRNA. (from RefSeq NM_000501)
RefSeq Summary (NM_000501): This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017].
Gencode Transcript: ENST00000252034.12
Gencode Gene: ENSG00000049540.19
Transcript (Including UTRs)
   Position: hg38 chr7:74,028,173-74,069,907 Size: 41,735 Total Exon Count: 33 Strand: +
Coding Region
   Position: hg38 chr7:74,028,188-74,068,700 Size: 40,513 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-02-17 13:02:02

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:74,028,173-74,069,907)mRNA (may differ from genome)Protein (724 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSCGAPEnsemblEntrez GeneExonPrimerGencode

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Elastin; AltName: Full=Tropoelastin; Flags: Precursor;
FUNCTION: Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity).
SUBUNIT: The polymeric elastin chains are cross-linked together into an extensible 3D network. Forms a ternary complex with BGN and MFAP2. Interacts with MFAP2 via divalent cations (calcium > magnesium > manganese) in a dose-dependent and saturating manner.
INTERACTION: O95967:EFEMP2; NbExp=5; IntAct=EBI-1222108, EBI-743414; Q9UBX5:FBLN5; NbExp=3; IntAct=EBI-1222108, EBI-947897; P28300:LOX; NbExp=2; IntAct=EBI-1222108, EBI-3893481;
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers.
TISSUE SPECIFICITY: Expressed within the outer myometrial smooth muscle and throughout the arteriolar tree of uterus (at protein level). Also expressed in the large arteries, lung and skin.
PTM: Elastin is formed through the cross-linking of its soluble precursor tropoelastin. Cross-linking is initiated through the action of lysyl oxidase on exposed lysines to form allysine. Subsequent spontaneous condensation reactions with other allysine or unmodified lysine residues result in various bi-, tri-, and tetrafunctional cross-links. The most abundant cross-links in mature elastin fibers are lysinonorleucine, allysine aldol, desmosine, and isodesmosine.
PTM: Hydroxylation on proline residues within the sequence motif, GXPG, is most likely 4-hydroxy as this fits the requirement for 4- hydroxylation in vertebrates (By similarity).
DISEASE: Defects in ELN are the cause of cutis laxa, autosomal dominant, type 1 (ADCL1) [MIM:123700]. A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.
DISEASE: Defects in ELN are the cause of supravalvular aortic stenosis (SVAS) [MIM:185500]. SVAS is a congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome.
DISEASE: Note=ELN is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of ELN may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
SIMILARITY: Belongs to the elastin family.
SEQUENCE CAUTION: Sequence=CAD98065.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=GeneReviews; URL="";
WEB RESOURCE: Name=Wikipedia; Note=Elastin entry; URL="";

-  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

-  MalaCards Disease Associations
  MalaCards Gene Search: ELN
Diseases sorted by gene-association score: supravalvar aortic stenosis* (1380), cutis laxa, autosomal dominant* (1269), williams-beuren syndrome* (584), eln-related cutis laxa* (100), abdominal aortic aneurysm (37), cutis laxa (29), exfoliation syndrome (26), intracranial aneurysm (21), pulmonary emphysema (20), pseudoxanthoma elasticum-like papillary dermal elastolysis (19), aortic disease (19), mid-dermal elastolysis (18), late-onset focal dermal elastosis (18), acquired cutis laxa (18), phimosis (18), chronic actinic dermatitis (18), aneurysm (16), osteopoikilosis (16), cerebral aneurysms (16), plica syndrome (15), pseudoxanthoma elasticum (15), aortic valve disease 2 (14), buschke-ollendorff syndrome (14), marfan syndrome (13), aortic aneurysm (13), familial abdominal aortic aneurysm (13), lichen sclerosus (13), hepatoportal sclerosis (13), primary optic atrophy (12), hutchinson-gilford progeria (12), congenital diaphragmatic hernia (12), alpha 1-antitrypsin deficiency (12), aortic valve disease 1 (11), elastosis perforans serpiginosa (10), menkes disease (10), elephantiasis (10), costello syndrome (10), aortic aneurysm, familial thoracic 1 (9), arteriosclerosis (9), ehlers-danlos syndrome, type iv (9), wrinkles (9), phosphoserine phosphatase deficiency (9), senile ectropion (8), sorsby fundus dystrophy (8), adult respiratory distress syndrome (8), inguinal hernia (8), glaucoma 1, open angle, e (7), open-angle glaucoma (7), wegener granulomatosis (7), phacogenic glaucoma (7), erysipelas (7), aortic valve insufficiency (7), lymphangioleiomyomatosis (7), dermatitis herpetiformis (6), chromosomal deletion syndrome (6), arterial tortuosity syndrome (6), collagen disease (6), optic disk drusen (5), pulmonary disease, chronic obstructive (4), vascular disease (4), homocysteinemia (4), optic nerve disease (4), serine deficiency (4), lung disease (4), juvenile glaucoma (3), fundus dystrophy (3), heart disease (3), connective tissue disease (2), cystic fibrosis (2)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 565.02 RPKM in Artery - Aorta
Total median expression: 2301.48 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
3' UTR -416.701207-0.345 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
IPR003979 - Tropoelastin

ModBase Predicted Comparative 3D Structure on P15502
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 Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding

Biological Process:
GO:0007585 respiratory gaseous exchange
GO:0008015 blood circulation
GO:0008283 cell proliferation
GO:0009887 animal organ morphogenesis
GO:0030198 extracellular matrix organization

Cellular Component:
GO:0005576 extracellular region
GO:0031012 extracellular matrix
GO:0071953 elastic fiber

-  Descriptions from all associated GenBank mRNAs
  AK304845 - Homo sapiens cDNA FLJ56005 complete cds, highly similar to Elastin precursor.
AK075554 - Homo sapiens cDNA PSEC0254 fis, clone NT2RP3003474, moderately similar to ELASTIN PRECURSOR.
AK075494 - Homo sapiens cDNA PSEC0191 fis, clone HEMBA1000446, moderately similar to ELASTIN PRECURSOR.
AK125511 - Homo sapiens cDNA FLJ43523 fis, clone PLACE5000282, weakly similar to Homo sapiens elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) (ELN).
AK130894 - Homo sapiens cDNA FLJ27384 fis, clone UBA08610, highly similar to Elastin precursor (Tropoelastin).
M36860 - Human elastin mRNA, complete cds.
X52896 - H.sapiens RNA for dermal fibroblast elastin.
BX538199 - Homo sapiens mRNA; cDNA DKFZp686O21208 (from clone DKFZp686O21208); complete cds.
BC065566 - Homo sapiens elastin, mRNA (cDNA clone MGC:70763 IMAGE:6153564), complete cds.
AB208942 - Homo sapiens mRNA for Elastin precursor variant protein.
BX537939 - Homo sapiens mRNA; cDNA DKFZp686F06102 (from clone DKFZp686F06102); complete cds.
BC050379 - Homo sapiens mRNA similar to elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) (cDNA clone IMAGE:5768028).
AK094138 - Homo sapiens cDNA FLJ36819 fis, clone ASTRO2005575, highly similar to Elastin precursor.
AK095990 - Homo sapiens cDNA FLJ38671 fis, clone HSYRA2000332, highly similar to Elastin precursor.
AK122731 - Homo sapiens cDNA FLJ16246 fis, clone HCHON2001577, highly similar to Human elastin gene.
AK225659 - Homo sapiens mRNA for Splice isoform 2 of P15502 variant, clone: STM04371.
AK092232 - Homo sapiens cDNA FLJ34913 fis, clone NT2RP7000311, moderately similar to ELASTIN PRECURSOR.
AX747420 - Sequence 945 from Patent EP1308459.
BC035570 - Homo sapiens, clone IMAGE:5241630, mRNA.
AM393341 - Synthetic construct Homo sapiens clone IMAGE:100002222 for hypothetical protein (ELN gene).
M24782 - Homo sapiens elastin (ELN) mRNA, 3' end.
M26867 - Human fetal elastin mRNA 3' untranslated region.
AF086171 - Homo sapiens full length insert cDNA clone ZB89B06.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P15502 (Reactome details) participates in the following event(s):

R-HSA-1566948 Elastic fibre formation
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: B3KTS6, ELN_HUMAN, ENST00000252034.1, ENST00000252034.10, ENST00000252034.11, ENST00000252034.2, ENST00000252034.3, ENST00000252034.4, ENST00000252034.5, ENST00000252034.6, ENST00000252034.7, ENST00000252034.8, ENST00000252034.9, NM_000501, O15336, O15337, P15502, Q14233, Q14234, Q14235, Q14238, Q6P0L4, Q6ZWJ6, Q75MU5, Q7Z316, Q7Z3F5, Q9UMF5, uc003tzn.1, uc003tzn.2, uc003tzn.3, uc003tzn.4, uc003tzn.5, uc003tzn.6
UCSC ID: ENST00000252034.12
RefSeq Accession: NM_000501
Protein: P15502 (aka ELN_HUMAN)
CCDS: CCDS5562.2, CCDS43598.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64677.1, CCDS64678.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ELN:
eln-cutis-laxa (ELN-Related Cutis Laxa)
williams (Williams Syndrome)

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