• Gene id: 2006

Gene Summary

• Gene Symbol: ELN   Gene   UCSC   Ensembl
• Aliases: ADCL1, SVAS, WBS, WS
• Gene name: elastin
• Alternate names: elastin, tropoelastin,
• Gene location: 7q11.23 (74027771: 74069906)     Exons: 34     NC_000007.14
• Gene summary(Entrez): This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encod
• OMIM: 600305

Protein Summary

• Protein general information: P15502  
  • Name: Elastin (Tropoelastin)
  • Length: 786  
  • Mass: 68398
  • 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
• Sequence:

  MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGGKPLKPVPGGLAGAGL
  GAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVY
  PGGVLPGARFPGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGK
  LPYGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGT
  PAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAK
  AAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISPEAQAAAAAKAA
  KYGAAGAGVLGGLVPGAPGAVPGVPGTGGVPGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVG
  LAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGL
  GVGAGVPGFGAGADEGVRRSLSPELREGDPSSSQHLPSTPSSPRVPGALAAAKAAKYGAAVPGVLGGLGALGGVG
  IPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVPGVGGLGGIPPAAAAKAAKYGAAGLGGVLGG
  AGQFPLGGVAARPGFGLSPIFPGGACLGKACGRKRK

• Structural information:
  • Interpro: IPR003979  
  • STRING: ENSP00000351807
• Other Databases: GeneCards:  ELN  Malacards:  ELN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005201	extracellular matrix structural constituent	TAS	molecular function
GO:0007585	respiratory gaseous exchange by respiratory system	TAS	biological process
GO:0008015	blood circulation	TAS	biological process
GO:0008015	blood circulation	TAS	biological process
GO:0031012	extracellular matrix	TAS	cellular component
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050840	extracellular matrix binding	IEA	molecular function
GO:0071953	elastic fiber	IEA	cellular component
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0030833	regulation of actin filament polymerization	IEA	biological process
GO:0043149	stress fiber assembly	IEA	biological process
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0003180	aortic valve morphogenesis	IC	biological process
GO:0071953	elastic fiber	IDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0003151	outflow tract morphogenesis	IMP	biological process
GO:0048660	regulation of smooth muscle cell proliferation	TAS	biological process
GO:0071953	elastic fiber	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Cutis laxa	KEGG:H00557
Congenital supravalvar aortic stenosis	KEGG:H00553
Williams-Beuren syndrome	KEGG:H01439
Cutis laxa	KEGG:H00557
Congenital supravalvar aortic stenosis	KEGG:H00553
Pterygium	PMID:11021831
Buschke-Ollendorff syndrome	PMID:1629625
primary open angle glaucoma	PMID:1526740
Kuhnt-Junius degeneration	PMID:22065928
Thromboangiitis obliterans	PMID:8763587
Temporal arteritis	PMID:9101501
Exfoliation syndrome	PMID:7777294
Aortic valve stenosis	PMID:11175284
Melanoma	PMID:11979070
Melanoma	PMID:19032378
Williams-Beuren syndrome	PMID:10533027
Supravalvular aortic stenosis	PMID:8132745
Pseudoxanthoma elasticum	PMID:7524808
Chronic obstructive pulmonary disease	PMID:16081882
Cutis laxa	PMID:2745999
Photosensitivity disease	PMID:18753059
Aortic aneurysm	PMID:16085695
systemic scleroderma	PMID:22563211
Macular degeneration	PMID:16123400
Rheumatoid arthritis	PMID:12643515
Abdominal aortic aneurysm	PMID:15944607
Dermatitis herpetiformis	PMID:8256113
Psoriasis	PMID:6893335
Diabetic retinopathy	PMID:11707314
Systemic lupus erythematosus	PMID:12643515
Polyarteritis nodosa	PMID:12643515
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq