Version 5.4
Homo sapiens Gene: ELN
Summary
InnateDB Gene IDBG-20555.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ELN
Gene Name elastin
Synonyms SVAS; WBS; WS
Species Homo sapiens
Ensembl Gene ENSG00000049540
Encoded Proteins
IDBP-20557
elastin
IDBP-20559
elastin
IDBP-20561
elastin
IDBP-20563
elastin
IDBP-20565
elastin
IDBP-20567
elastin
IDBP-20569
elastin
IDBP-20571
elastin
IDBP-20573
elastin
IDBP-20575
elastin
IDBP-378533
elastin
IDBP-378560
elastin
IDBP-378563
elastin
IDBP-378566
elastin
IDBP-378567
elastin
IDBP-378569
elastin
IDBP-378571
elastin
IDBP-378573
elastin
IDBP-378576
elastin
IDBP-378582
elastin
IDBP-378586
elastin
IDBP-378591
elastin
IDBP-813502
elastin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:74027789-74069907
Strand Forward strand
Band q11.23
Transcripts
ENST00000320492 ENSP00000315607
ENST00000380584 ENSP00000369958
ENST00000252034 ENSP00000252034
ENST00000380576 ENSP00000369950
ENST00000380575 ENSP00000369949
ENST00000380562 ENSP00000369936
ENST00000357036 ENSP00000349540
ENST00000380553 ENSP00000369926
ENST00000358929 ENSP00000351807
ENST00000320399 ENSP00000313565
ENST00000445912 ENSP00000389857
ENST00000431562 ENSP00000394549
ENST00000438906 ENSP00000406949
ENST00000414324 ENSP00000392575
ENST00000438880 ENSP00000389206
ENST00000458204 ENSP00000403162
ENST00000429192 ENSP00000391129
ENST00000417091 ENSP00000411092
ENST00000442310 ENSP00000403961
ENST00000416107 ENSP00000404138
ENST00000428787 ENSP00000399499
ENST00000419398 ENSP00000412262
ENST00000494160
ENST00000492003
ENST00000468517
ENST00000480728
ENST00000462506
ENST00000479432
ENST00000473323
ENST00000477397
ENST00000493839
ENST00000466878
ENST00000492210
ENST00000621115 ENSP00000480955
Interactions
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]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0030023 extracellular matrix constituent conferring elasticity
GO:0050840 extracellular matrix binding
Biological Process
GO:0001974 blood vessel remodeling
GO:0007519 skeletal muscle tissue development
GO:0007585 respiratory gaseous exchange
GO:0008015 blood circulation
GO:0008283 cell proliferation
GO:0009887 organ morphogenesis
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030833 regulation of actin filament polymerization
GO:0043149 stress fiber assembly
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005739 mitochondrion
GO:0071953 elastic fiber
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029675
View Gene Order
ENSBTAG00000019517
Not yet available
Pathways
NETPATH
REACTOME
REACT_150331
Molecules associated with elastic fibres pathway
REACT_150366
Elastic fibre formation pathway
REACT_118779
Extracellular matrix organization pathway
REACT_118572
Degradation of the extracellular matrix pathway
KEGG
hsa04974
Protein digestion and absorption pathway
INOH
INOH website
Integrin signaling pathway pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.647061
RefSeq NM_000501 NM_001081752 NM_001081753 NM_001081754 NM_001081755 NM_001278912 NM_001278913 NM_001278914 NM_001278915 NM_001278916 NM_001278917 NM_001278918 NM_001278939 XM_005250187
HUGO
OMIM
CCDS CCDS43598 CCDS43599 CCDS47611 CCDS47612 CCDS5562 CCDS64673 CCDS64674 CCDS64675 CCDS64676 CCDS64677 CCDS64678 CCDS75616 CCDS75617
HPRD 00556
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca