ELN
entrez
2006
canonical
uniprot
P15502
canonical
ensembl
ENSG00000049540
resolver
ensp
ENSP00000252034
resolver
ensp
ENSP00000315607
resolver
ensp
ENSP00000349540
resolver
ensp
ENSP00000369936
resolver
ensp
ENSP00000369949
resolver
ensp
ENSP00000369950
resolver
ensp
ENSP00000369958
resolver
ensp
ENSP00000389857
resolver
ensp
ENSP00000391129
resolver
ensp
ENSP00000392575
resolver
ensp
ENSP00000403162
resolver
ensp
ENSP00000480955
resolver
ensp
ENSP00000510104
resolver
ensp
ENSP00000539862
resolver
ensp
ENSP00000539864
resolver
ensp
ENSP00000539867
resolver
ensp
ENSP00000539869
resolver
ensp
ENSP00000539870
resolver
ensp
ENSP00000539873
resolver
ensp
ENSP00000539875
resolver
ensp
ENSP00000539876
resolver
ensp
ENSP00000539877
resolver
ensp
ENSP00000539878
resolver
ensp
ENSP00000539880
resolver
ensp
ENSP00000539882
resolver
ensp
ENSP00000539884
resolver
ensp
ENSP00000539885
resolver
ensp
ENSP00000539889
resolver
ensp
ENSP00000539890
resolver
ensp
ENSP00000539891
resolver
ensp
ENSP00000539906
resolver
ensp
ENSP00000539907
resolver
ensp
ENSP00000539909
resolver
ensp
ENSP00000539910
resolver
ensp
ENSP00000623876
resolver
ensp
ENSP00000623890
resolver
ensp
ENSP00000623897
resolver
ensp
ENSP00000623906
resolver
ensp
ENSP00000623911
resolver
ensp
ENSP00000623915
resolver
ensp
ENSP00000623918
resolver
ensp
ENSP00000623929
resolver
ensp
ENSP00000623933
resolver
ensp
ENSP00000623939
resolver
ensp
ENSP00000623940
resolver
ensp
ENSP00000623942
resolver
ensp
ENSP00000623947
resolver
ensp
ENSP00000623954
resolver
enst
ENST00000320492
resolver
enst
ENST00000414324
resolver
enst
ENST00000445912
resolver
enst
ENST00000458204
resolver
enst
ENST00000621115
resolver
genesymbol
ELN
resolver
hgnc
HGNC:3327
resolver
uniprot
A0A087WXE6
resolver
uniprot
B3KRT8
resolver
uniprot
B3KTS6
resolver
uniprot
B4E3S4
resolver
uniprot
E7EN65
resolver
uniprot
E7ENM0
resolver
uniprot
G3V0G6
resolver
uniprot
G5E950
resolver
uniprot
O15336
resolver
uniprot
O15337
resolver
uniprot
Q14233
resolver
uniprot
Q14234
resolver
uniprot
Q14235
resolver
uniprot
Q14238
resolver
uniprot
Q59H17
resolver
uniprot
Q6P0L4
resolver
uniprot
Q6ZUN2
resolver
uniprot
Q6ZWJ6
resolver
uniprot
Q75MU5
resolver
uniprot
Q7Z316
resolver
uniprot
Q7Z3F5
resolver
uniprot
Q8NBI4
resolver
uniprot
Q9UMF5
resolver
uniprot_entry
A0A087WXE6_HUMAN
resolver
uniprot_entry
B3KRT8_HUMAN
resolver
uniprot_entry
B4E3S4_HUMAN
resolver
uniprot_entry
E7EN65_HUMAN
resolver
uniprot_entry
E7ENM0_HUMAN
resolver
uniprot_entry
ELN_HUMAN
resolver
uniprot_entry
G3V0G6_HUMAN
resolver
uniprot_entry
G5E950_HUMAN
resolver
uniprot_entry
Q59H17_HUMAN
resolver
uniprot_entry
Q6ZUN2_HUMAN
resolver
uniprot_entry
Q8NBI4_HUMAN
resolver
uniprot_sec
B3KTS6
resolver
uniprot_sec
O15336
resolver
uniprot_sec
O15337
resolver
uniprot_sec
Q14233
resolver
uniprot_sec
Q14234
resolver
uniprot_sec
Q14235
resolver
uniprot_sec
Q14238
resolver
uniprot_sec
Q6P0L4
resolver
uniprot_sec
Q6ZWJ6
resolver
uniprot_sec
Q75MU5
resolver
uniprot_sec
Q7Z316
resolver
uniprot_sec
Q7Z3F5
resolver
uniprot_sec
Q9UMF5
resolver
amino_acid_sequence
MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGGKPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGAPGAVPGVPGTGGVPGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAGADEGVRRSLSPELREGDPSSSQHLPSTPSSPRVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVPGVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPIFPGGACLGKACGRKRK
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.; 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 (PubMed:8812460). {ECO:0000269|PubMed:8812460}.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:P54320}.
uniprot
proteins
mass_dalton
68398
uniprot
proteins
post_translational_modification
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. {ECO:0000250}.
uniprot
proteins
protein_family
Elastin family
uniprot
proteins
pubmed
10942104
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15790312
uniprot
proteins
pubmed
16078697
uniprot
proteins
pubmed
16161116
uniprot
proteins
pubmed
16478991
uniprot
proteins
pubmed
17035250
uniprot
proteins
pubmed
17255108
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19194475
uniprot
proteins
pubmed
19570982
uniprot
proteins
pubmed
2722804
uniprot
proteins
pubmed
2831431
uniprot
proteins
pubmed
3039501
uniprot
proteins
pubmed
3171221
uniprot
proteins
pubmed
8689688
uniprot
proteins
pubmed
8812460
uniprot
proteins
pubmed
9215670
uniprot
proteins
pubmed
9873040
uniprot
proteins
sequence_length
786
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:17035250}. Note=Extracellular matrix of elastic fibers. {ECO:0000269|PubMed:17035250}.
uniprot
proteins