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Aliases for ELN Gene

Aliases for ELN Gene

  • Elastin 2 3
  • Tropoelastin 2 3 4
  • Supravalvular Aortic Stenosis 2
  • Williams-Beuren Syndrome 2
  • SVAS 3
  • WBS 3
  • WS 3

External Ids for ELN Gene

Summaries for ELN Gene

Entrez Gene Summary for ELN Gene

  • This gene encodes a protein that is one of the two components of elastic fibers. 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. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ELN Gene

ELN (Elastin) is a Protein Coding gene. Diseases associated with ELN include elastosis perforans serpiginosa and hepatoportal sclerosis. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent conferring elasticity.

UniProtKB/Swiss-Prot for ELN Gene

  • 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).

Gene Wiki entry for ELN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELN Gene

Genomics for ELN Gene

Genomic Location for ELN Gene

Start:
74,027,789 bp from pter
End:
74,069,907 bp from pter
Size:
42,119 bases
Orientation:
Plus strand

Genomic View for ELN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ELN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELN Gene

Regulatory Elements for ELN Gene

Proteins for ELN Gene

  • Protein details for ELN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15502-ELN_HUMAN
    Recommended name:
    Elastin
    Protein Accession:
    P15502
    Secondary Accessions:
    • B3KTS6
    • O15336
    • O15337
    • Q14233
    • Q14234
    • Q14235
    • Q14238
    • Q6P0L4
    • Q6ZWJ6
    • Q75MU5
    • Q7Z316
    • Q7Z3F5
    • Q9UMF5

    Protein attributes for ELN Gene

    Size:
    786 amino acids
    Molecular mass:
    68469 Da
    Quaternary structure:
    • 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. Interacts with FBLN5.
    SequenceCaution:
    • Sequence=CAD98065.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ELN Gene

neXtProt entry for ELN Gene

Proteomics data for ELN Gene at MOPED

Post-translational modifications for ELN Gene

  • 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
  • Hydroxylation on proline residues within the sequence motif, GXPG, is most likely 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates.

No data available for DME Specific Peptides for ELN Gene

Domains for ELN Gene

Protein Domains for ELN Gene

UniProtKB/Swiss-Prot:

ELN_HUMAN
Family:
  • Belongs to the elastin family.:
    • P15502
genes like me logo Genes that share domains with ELN: view

No data available for Gene Families for ELN Gene

Function for ELN Gene

Molecular function for ELN Gene

GENATLAS Biochemistry: elastin,expressed during third trimester of fetal development and early postnatal years,synthesized by the smooth muscle secreted as tropo-elastin,organized into insoluble polymers forming elastic lamellae around the arterial lumen
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005515 protein binding IPI 11805834
GO:0030023 extracellular matrix constituent conferring elasticity --
GO:0050840 extracellular matrix binding --
genes like me logo Genes that share ontologies with ELN: view
genes like me logo Genes that share phenotypes with ELN: view

Animal Models for ELN Gene

MGI Knock Outs for ELN:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for ELN Gene

Localization for ELN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELN Gene

Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers. {ECO:0000269 PubMed:17035250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELN Gene COMPARTMENTS Subcellular localization image for ELN gene
Compartment Confidence
extracellular 5
mitochondrion 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005739 mitochondrion --
GO:0071953 elastic fiber IDA 10424889
genes like me logo Genes that share ontologies with ELN: view

Pathways for ELN Gene

genes like me logo Genes that share pathways with ELN: view

Pathways by source for ELN Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for ELN Gene
1 KEGG pathway for ELN Gene

Gene Ontology (GO) - Biological Process for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001974 blood vessel remodeling --
GO:0007519 skeletal muscle tissue development --
GO:0007585 respiratory gaseous exchange TAS 9873040
GO:0008015 blood circulation TAS 8096434
GO:0008283 cell proliferation TAS 9607766
genes like me logo Genes that share ontologies with ELN: view

Compounds for ELN Gene

(3) HMDB Compounds for ELN Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(1) Drugbank Compounds for ELN Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Rofecoxib
  • MK 966
162011-90-7 target other/unknown

(124) Novoseek inferred chemical compound relationships for ELN Gene

Compound -log(P) Hits PubMed IDs
desmosine 94.5 109
isodesmosine 93.2 53
vgvapg 87.8 16
poly(vpgvg) 83.2 3
vpgvg 81.6 5
genes like me logo Genes that share compounds with ELN: view

Transcripts for ELN Gene

Unigene Clusters for ELN Gene

Elastin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELN Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a ·
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - -
SP6:
SP7: - -
SP8:
SP9:
SP10:
SP11: - -
SP12: -
SP13:
SP14:
SP15:
SP16:

ExUns: 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d ^ 21 ^ 22a · 22b · 22c · 22d · 22e ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7:
SP8: - - -
SP9:
SP10: - - -
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:

ExUns: 32 ^ 33 ^ 34 ^ 35
SP1:
SP2:
SP3: -
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for ELN Gene

GeneLoc Exon Structure for
ELN
ECgene alternative splicing isoforms for
ELN

Expression for ELN Gene

mRNA expression in normal human tissues for ELN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELN Gene

This gene is overexpressed in Artery - Aorta (14.2), Artery - Coronary (7.2), and Artery - Tibial (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ELN Gene

SOURCE GeneReport for Unigene cluster for ELN Gene Hs.647061

mRNA Expression by UniProt/SwissProt for ELN Gene

P15502-ELN_HUMAN
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.
genes like me logo Genes that share expressions with ELN: view

Orthologs for ELN Gene

This gene was present in the common ancestor of chordates.

Orthologs for ELN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELN 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELN 37
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELN 37
  • 62 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eln 16
Eln 37
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELN 37
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELN 37
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELN 37
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELN 37
  • 52 (a)
OneToOne
Species with no ortholog for ELN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ELN Gene

ENSEMBL:
Gene Tree for ELN (if available)
TreeFam:
Gene Tree for ELN (if available)

Paralogs for ELN Gene

No data available for Paralogs for ELN Gene

Variants for ELN Gene

Sequence variations from dbSNP and Humsavar for ELN Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs8326 -- 74,069,359(+) CCATC(C/G)GTCCG utr-variant-3-prime
rs810554 -- 74,064,423(-) tatat(A/T)ttttt intron-variant
rs810555 -- 74,061,919(-) GCTGG(A/G)GTGGA intron-variant
rs810556 -- 74,061,906(-) CAGAG(A/G)CTGCC intron-variant
rs868005 -- 74,030,784(-) CAGGG(A/G)TTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELN Gene

Variant ID Type Subtype PubMed ID
nsv888373 CNV Loss 21882294
nsv888374 CNV Loss 21882294
nsv888375 CNV Loss 21882294
nsv824162 CNV Gain 20364138

Relevant External Links for ELN Gene

HapMap Linkage Disequilibrium report
ELN
Human Gene Mutation Database (HGMD)
ELN

Disorders for ELN Gene

(2) OMIM Diseases for ELN Gene (130160)

UniProtKB/Swiss-Prot

ELN_HUMAN
  • Cutis laxa, autosomal dominant, 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. {ECO:0000269 PubMed:9873040}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Supravalvular aortic stenosis (SVAS) [MIM:185500]: Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. {ECO:0000269 PubMed:10942104}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

(93) Novoseek inferred disease relationships for ELN Gene

Disease -log(P) Hits PubMed IDs
aortic stenosis supravalvular 86.9 31
williams syndrome 85.3 47
solar elastosis 83.3 14
cutis laxa 81.9 31
aortic aneurysm abdominal 75.5 45

Relevant External Links for ELN

GeneTests
ELN
GeneReviews
ELN
Genetic Association Database (GAD)
ELN
Human Genome Epidemiology (HuGE) Navigator
ELN
genes like me logo Genes that share disorders with ELN: view

Publications for ELN Gene

  1. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (PMID: 8812460) Osborne L.R. … Tsui L.-C. (Genomics 1996) 3 4 23
  2. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. (PMID: 9215670) Li D.Y. … Keating M.T. (Hum. Mol. Genet. 1997) 3 4 23
  3. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). (PMID: 9873040) Zhang M.-C. … Davidson J.M. (J. Biol. Chem. 1999) 3 4 23
  4. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. (PMID: 8689688) Frangiskakis J.M. … Keating M.T. (Cell 1996) 3 4 23
  5. Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. (PMID: 10942104) Urban Z. … Boyd C.D. (Hum. Genet. 2000) 3 4 23

Products for ELN Gene

Sources for ELN Gene

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