Gene: ELN - Homo sapiens
Last modified: Dec 09, 2014. Release 1 • Page created: May 19, 2024
Summary
Gene Symbol | : | ELN | ||||||||||||||||
NCBI Gene ID | : | 2006 | ||||||||||||||||
Species | : | Homo sapiens | ||||||||||||||||
Gene Synonyms | : | ELASTIN | elastin | ELN | supravalvular aortic stenosis | SVAS | tropoelastin | WBS | Williams-Beuren syndrome | WS Source: GPSDB |
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Gene Homologs | : | ELN (Bos taurus) | ELN (Gallus gallus) | ELN (Homo sapiens) | ELN (Macaca mulatta) | Eln (Mus musculus) | ELN (Pan troglodytes) | Eln (Rattus norvegicus) | ||||||||||||||||
Ageing Relevance Analysis | : |
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Ageing Factor Stable ID | : | AF_000099 | ||||||||||||||||
Download | : | XML |
Protein Information
Protein Name | Species | UniProt Accession Number | UniProt Entry Name | Protein Function | Sequence |
---|---|---|---|---|---|
Elastin (Supravalvular aortic stenosis, Williams-Beuren syndrome), isoform CRA_l | Homo sapiens | B3KRT8 (UniProtKB/TrEMBL) | B3KRT8_HUMAN (UniProtKB/TrEMBL) | View | |
Elastin | Homo sapiens | P15502 (UniProtKB/Swiss-Prot) | ELN_HUMAN (UniProtKB/Swiss-Prot) | 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. | View |
Observations
Ageing Phenotype
Data Type 1
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
# | Observation Stable ID | Species | Gene | Other Ageing Factor | Description | PubMed | Source | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
1 | OB_009862 | Homo sapiens |
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ELN is structural protein that may be related to arterial morphogenesis. Mice without ELN die of obstructive arterial disease [1651]. In humans, mutations in ELN have been associated with vascular disease [1655]. Large deletions resulting in hemizygosity of the elastin gene cause Williams-Beuren syndrome [1665], which has been suggested to resemble accelerated ageing [1422]. | GenAge |
Data Type 2
no ageing phenotype observation—data type 2 available
Homology Analysis
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
Legend:
- #EGHG:
- Number of Experimentally Confirmed Ageing-related Genes In Homology Group
# | Observation Stable ID | Homology Group Genes | #EGHG | Description | Source | Homology Source | ||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | OB_008588 |
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1 | The HomoloGene homology group 73880 contains 1 gene with experimental evidence for ageing relevance (ELN - Homo sapiens) and 6 other genes. | AgeFactDB Homology Analysis | HomoloGene homology group 73880 |
Sequences
B3KRT8_HUMAN | B3KRT8 | Elastin (Supravalvular aortic stenosis, Williams-Beuren syndrome), isoform CRA_l (Homo sapiens) from UniProtKB/TrEMBL Length: 617 10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320 330 340 350 360 370 380 390 400 410 420 430 440 450 460 470 480 490 500 510 520 530 540 550 560 570 580 590 600 610 B3KRT8_HUMAN 1 MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPALGPGGKPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGAEAQAAAAAKAAKYGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVPGVGGLGGIPPAAAAKAAKYGVAARPGFGLSPIFPGGACLGKACGRKRK 617
ELN_HUMAN | P15502 | Elastin (Homo sapiens) from UniProtKB/Swiss-Prot Length: 786 10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320 330 340 350 360 370 380 390 400 410 420 430 440 450 460 470 480 490 500 510 520 530 540 550 560 570 580 590 600 610 620 630 640 650 660 670 680 690 700 710 720 730 740 750 760 770 780 ELN_HUMAN 1 MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGGKPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGPQAAVPGVPGTGGVPGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAGADEGVRRSLSPELREGDPSSSQHLPSTPSSPRVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVPGVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPIFPGGACLGKACGRKRK 786
References
MeSH Terms: Only a subset of the Medical Subject Headings terms is shown: the Major Topics MeSH terms. They describe one of the main topics discussed in the article denoted by an asterisk on the MeSH term or MeSH/Subheading combination on the PubMed page. MeSH terms that belong to the Ageing MeSH are highlighted in green.
- Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL:
Natural history of Williams syndrome: physical characteristics.
J Pediatr. 1988; 113: 318-26.
PubMed (ID: 2456379)
MeSH Terms: Abnormalities, Multiple/pathology; Growth Disorders/pathology; Intellectual Disability - Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT:
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
Nat Genet. 1993; 5: 11-6.
PubMed (ID: 7693128), doi:10.1038/ng0993-11
MeSH Terms: Connective Tissue Diseases/genetics; Developmental Disabilities/genetics; Elastin/genetics - Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT:
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
Hum Mol Genet. 1997; 6: 1021-8.
PubMed (ID: 9215670)
MeSH Terms: Aortic Valve Stenosis/genetics; Elastin/genetics; Mutation - Li DY, Brooke B, Davis EC, Mecham RP, Sorensen LK, Boak BB, Eichwald E, Keating MT:
Elastin is an essential determinant of arterial morphogenesis.
Nature. 1998; 393: 276-80.
PubMed (ID: 9607766), doi:10.1038/30522
MeSH Terms: Arteries/embryology; Elastin/physiology; Morphogenesis/physiology; Neovascularization, Physiologic/physiology - Li DY, Faury G, Taylor DG, Davis EC, Boyle WA, Mecham RP, Stenzel P, Boak B, Keating MT:
Novel arterial pathology in mice and humans hemizygous for elastin.
J Clin Invest. 1998; 102: 1783-7.
PubMed (ID: 9819363), PubMed Central (ID: PMC509127), doi:10.1172/JCI4487
MeSH Terms: Aorta/pathology; Arterial Occlusive Diseases/pathology; Elastin/genetics; Tunica Media/pathology - Faury G, Pezet M, Knutsen RH, Boyle WA, Heximer SP, McLean SE, Minkes RK, Blumer KJ, Kovacs A, Kelly DP, Li DY, Starcher B, Mecham RP:
Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency.
J Clin Invest. 2003; 112: 1419-28.
PubMed (ID: 14597767), PubMed Central (ID: PMC228452), doi:10.1172/JCI19028
MeSH Terms: Elastin/deficiency; Hypertension/etiology - Devenny DA, Krinsky-McHale SJ, Kittler PM, Flory M, Jenkins E, Brown WT:
Age-associated memory changes in adults with williams syndrome.
Dev Neuropsychol. 2004; 26: 691-706.
PubMed (ID: 15525565), doi:10.1207/s15326942dn2603_3
MeSH Terms: Aging/physiology; Memory Disorders/physiopathology; Memory, Short-Term/physiology; Memory/physiology; Williams Syndrome/physiopathology - Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR:
Multisystem study of 20 older adults with Williams syndrome.
Am J Med Genet A. 2004; 131: 255-64.
PubMed (ID: 15534874), doi:10.1002/ajmg.a.30400
MeSH Terms: Williams Syndrome/physiopathology - Krinsky-McHale SJ, Kittler P, Brown WT, Jenkins EC, Devenny DA:
Repetition priming in adults with Williams syndrome: age-related dissociation between implicit and explicit memory.
Am J Ment Retard. 2005; 110: 482-96.
PubMed (ID: 16212450), doi:10.1352/0895-8017(2005)110[482:RPIAWW]2.0.CO;2
MeSH Terms: Memory Disorders/epidemiology; Williams Syndrome/epidemiology; Williams Syndrome/psychology
Sources
Ageing-related Data Sources
- AgeFactDB Homology Analysis
- GenAge
Additional Data Sources
- AgeFactDB Pipeline
- GPSDB
- HomoloGene
- NCBI Taxonomy
- PubMed
- UniProtKB/Swiss-Prot
- UniProtKB/TrEMBL