Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Elastin

Gene

ELN

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

Functioni

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).By similarity

GO - Molecular functioni

  • extracellular matrix structural constituent Source: ProtInc

GO - Biological processi

  • animal organ morphogenesis Source: ProtInc
  • blood circulation Source: ProtInc
  • cell proliferation Source: ProtInc
  • extracellular matrix disassembly Source: Reactome
  • extracellular matrix organization Source: Reactome
  • respiratory gaseous exchange Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000049540-MONOMER.
ReactomeiR-HSA-1474228. Degradation of the extracellular matrix.
R-HSA-1566948. Elastic fibre formation.
R-HSA-2129379. Molecules associated with elastic fibres.
SIGNORiP15502.

Names & Taxonomyi

Protein namesi
Recommended name:
Elastin
Alternative name(s):
Tropoelastin
Gene namesi
Name:ELN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:3327. ELN.

Subcellular locationi

GO - Cellular componenti

  • elastic fiber Source: UniProtKB
  • extracellular region Source: Reactome
  • proteinaceous extracellular matrix Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Cutis laxa, autosomal dominant, 1 (ADCL1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:123700
Supravalvular aortic stenosis (SVAS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCongenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome.
See also OMIM:185500

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 (PubMed:8812460).

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi2006.
MalaCardsiELN.
MIMi123700. phenotype.
185500. phenotype.
OpenTargetsiENSG00000049540.
Orphaneti90348. Autosomal dominant cutis laxa.
3193. Supravalvular aortic stenosis.
904. Williams syndrome.
PharmGKBiPA27757.

Protein family/group databases

Allergomei11040. Hom s Elastin.

Polymorphism and mutation databases

BioMutaiELN.
DMDMi306526276.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26By similarityAdd BLAST26
ChainiPRO_000002116327 – 786ElastinAdd BLAST760

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei34Hydroxyproline1 Publication1
Modified residuei65Hydroxyproline; partial1 Publication1
Modified residuei67Hydroxyproline; partial1 Publication1
Modified residuei88Hydroxyproline; partial1 Publication1
Modified residuei104AllysineBy similarity1
Modified residuei1164-hydroxyproline; partial1 Publication1
Modified residuei156Hydroxyproline; partial1 Publication1
Modified residuei167Hydroxyproline; partial1 Publication1
Modified residuei170Hydroxyproline; partial1 Publication1
Modified residuei177Hydroxyproline; partial1 Publication1
Modified residuei1904-hydroxyproline; partial2 Publications1
Modified residuei241AllysineBy similarity1
Modified residuei261AllysineBy similarity1
Modified residuei265AllysineBy similarity1
Modified residuei2834-hydroxyproline; partial1 Publication1
Modified residuei2864-hydroxyproline; partial2 Publications1
Modified residuei290Hydroxyproline; partial1 Publication1
Modified residuei312AllysineBy similarity1
Modified residuei315AllysineBy similarity1
Modified residuei3274-hydroxyproline; partial1 Publication1
Modified residuei3424-hydroxyproline; partial1 Publication1
Modified residuei3474-hydroxyproline; partial1 Publication1
Modified residuei352Hydroxyproline; partial1 Publication1
Modified residuei355Hydroxyproline; partial1 Publication1
Modified residuei3604-hydroxyproline; partial1 Publication1
Modified residuei375AllysineBy similarity1
Modified residuei379AllysineBy similarity1
Modified residuei382AllysineBy similarity1
Modified residuei4154-hydroxyproline; partial1 Publication1
Modified residuei421Hydroxyproline; partial1 Publication1
Modified residuei4274-hydroxyproline; partial2 Publications1
Modified residuei451AllysineBy similarity1
Modified residuei465Hydroxyproline; partial1 Publication1
Modified residuei467Hydroxyproline; partial1 Publication1
Modified residuei4814-hydroxyproline; partial1 Publication1
Modified residuei492AllysineBy similarity1
Modified residuei496AllysineBy similarity1
Modified residuei522Hydroxyproline; partial1 Publication1
Modified residuei550Hydroxyproline; partial1 Publication1
Modified residuei558AllysineBy similarity1
Modified residuei562AllysineBy similarity1
Modified residuei566AllysineBy similarity1
Modified residuei5804-hydroxyproline; partial2 Publications1
Modified residuei5894-hydroxyproline1 Publication1
Modified residuei5984-hydroxyproline1 Publication1
Modified residuei6074-hydroxyproline; partial1 Publication1
Modified residuei646Hydroxyproline; partial1 Publication1
Modified residuei653AllysineBy similarity1
Modified residuei656AllysineBy similarity1
Modified residuei6774-hydroxyproline; partial2 Publications1
Modified residuei693AllysineBy similarity1
Modified residuei697AllysineBy similarity1
Modified residuei735AllysineBy similarity1
Modified residuei738AllysineBy similarity1
Modified residuei769Hydroxyproline; partial1 Publication1
Modified residuei772Hydroxyproline; partial1 Publication1
Disulfide bondi776 ↔ 781By similarity

Post-translational modificationi

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.By similarity

Keywords - PTMi

Disulfide bond, Hydroxylation

Proteomic databases

PaxDbiP15502.
PeptideAtlasiP15502.
PRIDEiP15502.

PTM databases

iPTMnetiP15502.
PhosphoSitePlusiP15502.

Miscellaneous databases

PMAP-CutDBP15502.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000049540.
ExpressionAtlasiP15502. baseline and differential.
GenevisibleiP15502. HS.

Organism-specific databases

HPAiCAB010750.
HPA018111.
HPA056941.

Interactioni

Subunit structurei

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 (PubMed:15790312, PubMed:17035250). Interacts with FBN1 (PubMed:15790312). Forms a ternary complex with FBN1 and FBLN2 or FBLN5 (PubMed:17255108). Interacts with MFAP4 in a Ca (2+)-dependent manner; this interaction promotes ELN self-assembly (By similarity).By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
EFEMP2O959675EBI-1222108,EBI-743414
FBLN5Q9UBX53EBI-1222108,EBI-947897
LOXP283002EBI-1222108,EBI-3893481

Protein-protein interaction databases

BioGridi108321. 14 interactors.
IntActiP15502. 10 interactors.
STRINGi9606.ENSP00000252034.

Structurei

3D structure databases

ProteinModelPortaliP15502.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi97 – 102Poly-Ala6
Compositional biasi236 – 742Ala-richAdd BLAST507

Sequence similaritiesi

Belongs to the elastin family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IZT8. Eukaryota.
ENOG4111817. LUCA.
GeneTreeiENSGT00730000111510.
InParanoidiP15502.
KOiK14211.
TreeFamiTF338594.

Family and domain databases

InterProiIPR003979. Tropoelastin.
[Graphical view]
PRINTSiPR01500. TROPOELASTIN.

Sequences (13)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 13 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 3 (identifier: P15502-3) [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
MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA
60 70 80 90 100
LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA
110 120 130 140 150
AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY
160 170 180 190 200
PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP
210 220 230 240 250
GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV
260 270 280 290 300
GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT
310 320 330 340 350
PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG
360 370 380 390 400
IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG
410 420 430 440 450
AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA
460 470 480 490 500
KYGAAGAGVL GGLVPGPQAA VPGVPGTGGV PGVGTPAAAA AKAAAKAAQF
510 520 530 540 550
GLVPGVGVAP GVGVAPGVGV APGVGLAPGV GVAPGVGVAP GVGVAPGIGP
560 570 580 590 600
GGVAAAAKSA AKVAAKAQLR AAAGLGAGIP GLGVGVGVPG LGVGAGVPGL
610 620 630 640 650
GVGAGVPGFG AGADEGVRRS LSPELREGDP SSSQHLPSTP SSPRVPGALA
660 670 680 690 700
AAKAAKYGAA VPGVLGGLGA LGGVGIPGGV VGAGPAAAAA AAKAAAKAAQ
710 720 730 740 750
FGLVGAAGLG GLGVGGLGVP GVGGLGGIPP AAAAKAAKYG AAGLGGVLGG
760 770 780
AGQFPLGGVA ARPGFGLSPI FPGGACLGKA CGRKRK
Length:786
Mass (Da):68,469
Last modified:October 5, 2010 - v3
Checksum:iD3C6F4EC6BC4991F
GO
Isoform 1 (identifier: P15502-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     453-481: Missing.
     500-500: F → FALLNLA
     612-644: Missing.

Show »
Length:730
Mass (Da):63,230
Checksum:iB38B11526A0CB52D
GO
Isoform 2 (identifier: P15502-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     453-481: Missing.
     612-644: Missing.

Show »
Length:724
Mass (Da):62,634
Checksum:i0A7E4424F9EC0F78
GO
Isoform 4 (identifier: P15502-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     453-481: Missing.

Show »
Length:757
Mass (Da):66,106
Checksum:i2B24F955D8360738
GO
Isoform 5 (identifier: P15502-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     125-125: A → AAPSVP
     453-481: Missing.
     612-644: Missing.
     740-757: Missing.

Note: No experimental confirmation available.
Show »
Length:711
Mass (Da):61,605
Checksum:i151A0A4E089B3A5C
GO
Isoform 6 (identifier: P15502-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     453-500: Missing.
     612-644: Missing.
     740-757: Missing.

Show »
Length:687
Mass (Da):59,500
Checksum:i86446D90C8E2664F
GO
Isoform 7 (identifier: P15502-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-54: Missing.
     453-500: Missing.
     612-644: Missing.
     740-757: Missing.

Note: No experimental confirmation available.
Show »
Length:677
Mass (Da):58,789
Checksum:iC5082D1C00A310BA
GO
Isoform 8 (identifier: P15502-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-228: Missing.
     453-500: Missing.
     555-570: AAAKSAAKVAAKAQLR → G
     612-644: Missing.
     740-757: Missing.

Note: No experimental confirmation available.
Show »
Length:658
Mass (Da):56,551
Checksum:i5DAFC55566AB809B
GO
Isoform 9 (identifier: P15502-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     500-500: F → FALLNLA

Note: No experimental confirmation available.
Show »
Length:792
Mass (Da):69,064
Checksum:i35AAC849F2DC2EC6
GO
Isoform 10 (identifier: P15502-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     500-500: F → FALLNLA
     612-644: Missing.

Note: No experimental confirmation available.
Show »
Length:759
Mass (Da):65,593
Checksum:iE8E4CBC20D02A185
GO
Isoform 11 (identifier: P15502-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     78-180: Missing.
     215-228: Missing.
     453-500: Missing.
     612-644: Missing.
     740-757: Missing.

Note: No experimental confirmation available.
Show »
Length:570
Mass (Da):48,897
Checksum:i6C9128F3D079D9B0
GO
Isoform 12 (identifier: P15502-12) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     125-125: A → AAPSVP
     453-500: Missing.
     612-644: Missing.
     740-757: Missing.

Show »
Length:692
Mass (Da):59,951
Checksum:i65D038D48352C5E9
GO
Isoform 13 (identifier: P15502-13) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     453-500: Missing.
     612-644: Missing.

Show »
Length:705
Mass (Da):60,980
Checksum:i78F444C823E5F8B4
GO

Sequence cautioni

The sequence CAD98065 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti317G → E in CAD97910 (PubMed:17974005).Curated1
Sequence conflicti467 – 469PQA → APG in AAB65620 (PubMed:9215670).Curated3
Sequence conflicti467 – 469PQA → APG in AAB65621 (PubMed:9215670).Curated3
Sequence conflicti553V → I in BAC85506 (PubMed:14702039).Curated1
Sequence conflicti691A → T in CAD98065 (PubMed:17974005).Curated1
Sequence conflicti773G → D in CAD97910 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072395211P → S Found as homozygous mutation in a patient with autosomal recessive cutis laxa also carrying a mutation in FBLN5; unknown pathological significance. 1 Publication1
Natural variantiVAR_020882422G → S.7 PublicationsCorresponds to variant rs2071307dbSNPEnsembl.1
Natural variantiVAR_056869610G → R.2 PublicationsCorresponds to variant rs17855988dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01247945 – 54Missing in isoform 7. 1 Publication10
Alternative sequenceiVSP_01248078 – 180Missing in isoform 11. 1 PublicationAdd BLAST103
Alternative sequenceiVSP_012481125A → AAPSVP in isoform 5 and isoform 12. 2 Publications1
Alternative sequenceiVSP_012482215 – 228Missing in isoform 8 and isoform 11. 2 PublicationsAdd BLAST14
Alternative sequenceiVSP_012483453 – 500Missing in isoform 6, isoform 7, isoform 8, isoform 11, isoform 12 and isoform 13. 4 PublicationsAdd BLAST48
Alternative sequenceiVSP_012484453 – 481Missing in isoform 1, isoform 2, isoform 4 and isoform 5. 3 PublicationsAdd BLAST29
Alternative sequenceiVSP_012485500F → FALLNLA in isoform 1, isoform 9 and isoform 10. 1 Publication1
Alternative sequenceiVSP_012486555 – 570AAAKS…KAQLR → G in isoform 8. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_012487612 – 644Missing in isoform 1, isoform 2, isoform 5, isoform 6, isoform 7, isoform 8, isoform 10, isoform 11, isoform 12 and isoform 13. 6 PublicationsAdd BLAST33
Alternative sequenceiVSP_012488740 – 757Missing in isoform 5, isoform 6, isoform 7, isoform 8, isoform 11 and isoform 12. 3 PublicationsAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M17282
, M16983, M17265, M17266, M17267, M17268, M17271, M17272, M17273, M17275, M17276, M17277, M17278, M17279, M17281 Genomic DNA. Translation: AAC98393.1.
M17282
, M16983, M17265, M17266, M17267, M17268, M17270, M17271, M17272, M17273, M17275, M17276, M17277, M17278, M17279, M17280, M17281 Genomic DNA. Translation: AAC98394.1.
M17282
, M16983, M17265, M17266, M17267, M17268, M17270, M17271, M17272, M17273, M17274, M17275, M17276, M17277, M17278, M17279, M17280, M17281 Genomic DNA. Translation: AAC98395.1.
M36860 mRNA. Translation: AAA52382.1.
AK095990 mRNA. Translation: BAG53188.1.
AK122731 mRNA. Translation: BAC85506.1.
BX537939 mRNA. Translation: CAD97910.1.
BX538199 mRNA. Translation: CAD98065.1. Different initiation.
AK225659 mRNA. No translation available.
AC005056 Genomic DNA. Translation: AAS07435.1.
CH471200 Genomic DNA. Translation: EAW69627.1.
BC065566 mRNA. Translation: AAH65566.1.
X15603 Genomic DNA. Translation: CAA33627.1.
U93037
, U93034, U93035, U93036 Genomic DNA. Translation: AAB65620.1.
U93037
, U93034, U93035, U93036 Genomic DNA. Translation: AAB65621.1.
M24782 mRNA. Translation: AAA53190.1.
U63721 Genomic DNA. Translation: AAC13884.1.
U62292 Genomic DNA. Translation: AAB17544.1.
CCDSiCCDS43598.1. [P15502-5]
CCDS43599.1. [P15502-7]
CCDS47611.1. [P15502-12]
CCDS47612.1. [P15502-13]
CCDS5562.2. [P15502-2]
CCDS64673.1. [P15502-1]
CCDS64675.1. [P15502-8]
CCDS75616.1. [P15502-3]
PIRiA32707. EAHU.
RefSeqiNP_000492.2. NM_000501.3. [P15502-2]
NP_001075221.1. NM_001081752.2. [P15502-7]
NP_001075222.1. NM_001081753.2. [P15502-12]
NP_001075223.1. NM_001081754.2. [P15502-5]
NP_001075224.1. NM_001081755.2. [P15502-13]
NP_001265844.1. NM_001278915.1. [P15502-1]
NP_001265845.1. NM_001278916.1. [P15502-8]
UniGeneiHs.647061.

Genome annotation databases

EnsembliENST00000252034; ENSP00000252034; ENSG00000049540. [P15502-2]
ENST00000320399; ENSP00000313565; ENSG00000049540. [P15502-4]
ENST00000357036; ENSP00000349540; ENSG00000049540. [P15502-5]
ENST00000380553; ENSP00000369926; ENSG00000049540. [P15502-11]
ENST00000380562; ENSP00000369936; ENSG00000049540. [P15502-1]
ENST00000380575; ENSP00000369949; ENSG00000049540. [P15502-7]
ENST00000380576; ENSP00000369950; ENSG00000049540. [P15502-13]
ENST00000380584; ENSP00000369958; ENSG00000049540. [P15502-8]
ENST00000429192; ENSP00000391129; ENSG00000049540. [P15502-12]
GeneIDi2006.
KEGGihsa:2006.
UCSCiuc003tzn.5. human. [P15502-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Elastin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M17282
, M16983, M17265, M17266, M17267, M17268, M17271, M17272, M17273, M17275, M17276, M17277, M17278, M17279, M17281 Genomic DNA. Translation: AAC98393.1.
M17282
, M16983, M17265, M17266, M17267, M17268, M17270, M17271, M17272, M17273, M17275, M17276, M17277, M17278, M17279, M17280, M17281 Genomic DNA. Translation: AAC98394.1.
M17282
, M16983, M17265, M17266, M17267, M17268, M17270, M17271, M17272, M17273, M17274, M17275, M17276, M17277, M17278, M17279, M17280, M17281 Genomic DNA. Translation: AAC98395.1.
M36860 mRNA. Translation: AAA52382.1.
AK095990 mRNA. Translation: BAG53188.1.
AK122731 mRNA. Translation: BAC85506.1.
BX537939 mRNA. Translation: CAD97910.1.
BX538199 mRNA. Translation: CAD98065.1. Different initiation.
AK225659 mRNA. No translation available.
AC005056 Genomic DNA. Translation: AAS07435.1.
CH471200 Genomic DNA. Translation: EAW69627.1.
BC065566 mRNA. Translation: AAH65566.1.
X15603 Genomic DNA. Translation: CAA33627.1.
U93037
, U93034, U93035, U93036 Genomic DNA. Translation: AAB65620.1.
U93037
, U93034, U93035, U93036 Genomic DNA. Translation: AAB65621.1.
M24782 mRNA. Translation: AAA53190.1.
U63721 Genomic DNA. Translation: AAC13884.1.
U62292 Genomic DNA. Translation: AAB17544.1.
CCDSiCCDS43598.1. [P15502-5]
CCDS43599.1. [P15502-7]
CCDS47611.1. [P15502-12]
CCDS47612.1. [P15502-13]
CCDS5562.2. [P15502-2]
CCDS64673.1. [P15502-1]
CCDS64675.1. [P15502-8]
CCDS75616.1. [P15502-3]
PIRiA32707. EAHU.
RefSeqiNP_000492.2. NM_000501.3. [P15502-2]
NP_001075221.1. NM_001081752.2. [P15502-7]
NP_001075222.1. NM_001081753.2. [P15502-12]
NP_001075223.1. NM_001081754.2. [P15502-5]
NP_001075224.1. NM_001081755.2. [P15502-13]
NP_001265844.1. NM_001278915.1. [P15502-1]
NP_001265845.1. NM_001278916.1. [P15502-8]
UniGeneiHs.647061.

3D structure databases

ProteinModelPortaliP15502.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108321. 14 interactors.
IntActiP15502. 10 interactors.
STRINGi9606.ENSP00000252034.

Protein family/group databases

Allergomei11040. Hom s Elastin.

PTM databases

iPTMnetiP15502.
PhosphoSitePlusiP15502.

Polymorphism and mutation databases

BioMutaiELN.
DMDMi306526276.

Proteomic databases

PaxDbiP15502.
PeptideAtlasiP15502.
PRIDEiP15502.

Protocols and materials databases

DNASUi2006.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252034; ENSP00000252034; ENSG00000049540. [P15502-2]
ENST00000320399; ENSP00000313565; ENSG00000049540. [P15502-4]
ENST00000357036; ENSP00000349540; ENSG00000049540. [P15502-5]
ENST00000380553; ENSP00000369926; ENSG00000049540. [P15502-11]
ENST00000380562; ENSP00000369936; ENSG00000049540. [P15502-1]
ENST00000380575; ENSP00000369949; ENSG00000049540. [P15502-7]
ENST00000380576; ENSP00000369950; ENSG00000049540. [P15502-13]
ENST00000380584; ENSP00000369958; ENSG00000049540. [P15502-8]
ENST00000429192; ENSP00000391129; ENSG00000049540. [P15502-12]
GeneIDi2006.
KEGGihsa:2006.
UCSCiuc003tzn.5. human. [P15502-3]

Organism-specific databases

CTDi2006.
DisGeNETi2006.
GeneCardsiELN.
GeneReviewsiELN.
H-InvDBHIX0006761.
HGNCiHGNC:3327. ELN.
HPAiCAB010750.
HPA018111.
HPA056941.
MalaCardsiELN.
MIMi123700. phenotype.
130160. gene.
185500. phenotype.
neXtProtiNX_P15502.
OpenTargetsiENSG00000049540.
Orphaneti90348. Autosomal dominant cutis laxa.
3193. Supravalvular aortic stenosis.
904. Williams syndrome.
PharmGKBiPA27757.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IZT8. Eukaryota.
ENOG4111817. LUCA.
GeneTreeiENSGT00730000111510.
InParanoidiP15502.
KOiK14211.
TreeFamiTF338594.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000049540-MONOMER.
ReactomeiR-HSA-1474228. Degradation of the extracellular matrix.
R-HSA-1566948. Elastic fibre formation.
R-HSA-2129379. Molecules associated with elastic fibres.
SIGNORiP15502.

Miscellaneous databases

ChiTaRSiELN. human.
GeneWikiiElastin.
GenomeRNAii2006.
PMAP-CutDBP15502.
PROiP15502.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000049540.
ExpressionAtlasiP15502. baseline and differential.
GenevisibleiP15502. HS.

Family and domain databases

InterProiIPR003979. Tropoelastin.
[Graphical view]
PRINTSiPR01500. TROPOELASTIN.
ProtoNetiSearch...

Entry informationi

Entry nameiELN_HUMAN
AccessioniPrimary (citable) accession number: P15502
Secondary accession number(s): B3KTS6
, O15336, O15337, Q14233, Q14234, Q14235, Q14238, Q6P0L4, Q6ZWJ6, Q75MU5, Q7Z316, Q7Z3F5, Q9UMF5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: October 5, 2010
Last modified: November 2, 2016
This is version 183 of the entry and version 3 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 7
    Human chromosome 7: 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.