InnateDB Protein
|
IDBP-20575.7
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
ELN
|
Protein Name
|
elastin
|
Synonyms
|
SVAS; WBS; WS;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000313565
|
InnateDB Gene
|
IDBG-20555 (ELN)
|
Protein Structure
|
|
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}.
|
Subcellular Localization |
Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers.
|
Disease Associations |
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:0000269PubMed: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:0000269PubMed: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.
|
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. {ECO:0000269PubMed:8812460}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated |
Total |
23
[view]
|
Protein-Protein |
22
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
4 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR003979
Tropoelastin
|
PFAM |
|
PRINTS |
PR01500
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P15502
|
PhosphoSite |
PhosphoSite-P15502
|
TrEMBL |
Q9UMK5
|
UniProt Splice Variant |
|
Entrez Gene |
2006
|
UniGene |
Hs.647061
|
RefSeq |
|
HUGO |
HGNC:3327
|
OMIM |
130160
|
CCDS |
|
HPRD |
00556
|
IMGT |
|
EMBL |
AC005056
AK095990
AK122731
AK225659
BC065566
BX537939
BX538199
CH471200
EF649954
J04821
M16983
M17265
M17266
M17267
M17268
M17270
M17271
M17272
M17273
M17274
M17275
M17276
M17277
M17278
M17279
M17280
M17281
M17282
M24782
M36860
U62292
U63721
U93034
U93035
U93036
U93037
X15603
|
GenPept |
AAA52379
AAA52382
AAA53190
AAB17544
AAB65620
AAB65621
AAC13884
AAC98393
AAC98394
AAC98395
AAH65566
AAS07435
ABS29265
BAC85506
BAG53188
CAA33627
CAD97910
CAD98065
EAW69627
|
|
|