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MGP000949

UniProt Annotations

Entry Information

Gene Name	elastin
Protein Entry
UniProt ID	Q8NBI4
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=13; Comment=Additional isoforms seem to exist.; Name=3; IsoId=P15502-3; Sequence=Displayed; Name=1; IsoId=P15502-1; Sequence=VSP_012484, VSP_012485, VSP_012487; Name=2; IsoId=P15502-2; Sequence=VSP_012484, VSP_012487; Name=4; IsoId=P15502-4; Sequence=VSP_012484; Name=5; IsoId=P15502-5; Sequence=VSP_012481, VSP_012484, VSP_012487, VSP_012488; Note=No experimental confirmation available.; Name=6; IsoId=P15502-6; Sequence=VSP_012483, VSP_012487, VSP_012488; Name=7; IsoId=P15502-7; Sequence=VSP_012479, VSP_012483, VSP_012487, VSP_012488; Note=No experimental confirmation available.; Name=8; IsoId=P15502-8; Sequence=VSP_012482, VSP_012483, VSP_012486, VSP_012487, VSP_012488; Note=No experimental confirmation available.; Name=9; IsoId=P15502-9; Sequence=VSP_012485; Note=No experimental confirmation available.; Name=10; IsoId=P15502-10; Sequence=VSP_012485, VSP_012487; Note=No experimental confirmation available.; Name=11; IsoId=P15502-11; Sequence=VSP_012480, VSP_012482, VSP_012483, VSP_012487, VSP_012488; Note=No experimental confirmation available.; Name=12; IsoId=P15502-12; Sequence=VSP_012481, VSP_012483, VSP_012487, VSP_012488; Name=13; IsoId=P15502-13; Sequence=VSP_012483, VSP_012487;
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 mutations 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.
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 mutations affecting the gene represented in this entry.
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}.
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;
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}.
Sequence Caution	Sequence=CAD98065.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Belongs to the elastin family. {ECO:0000305}.
Subcellular Location	Secreted, extracellular space, extracellular matrix {ECO:0000269\|PubMed:17035250}. Note=Extracellular matrix of elastic fibers. {ECO:0000269\|PubMed:17035250}.
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. Interacts with FBLN5. {ECO:0000250\|UniProtKB:P04985, ECO:0000269\|PubMed:17035250}.
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:0000269\|PubMed:8812460}.
Web Resource	Name=Wikipedia; Note=Elastin entry; URL="http://en.wikipedia.org/wiki/Elastin";