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HUMAN:ELN

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) ELN
Protein Name(s) Elastin

Tropoelastin

External Links
UniProt P15502
EMBL M17282
M16983
M17265
M17266
M17267
M17268
M17271
M17272
M17273
M17275
M17276
M17277
M17278
M17279
M17281
M17282
M16983
M17265
M17266
M17267
M17268
M17270
M17271
M17272
M17273
M17275
M17276
M17277
M17278
M17279
M17280
M17281
M17282
M16983
M17265
M17266
M17267
M17268
M17270
M17271
M17272
M17273
M17274
M17275
M17276
M17277
M17278
M17279
M17280
M17281
M36860
AK095990
AK122731
BX537939
BX538199
AK225659
AC005056
CH471200
BC065566
X15603
U93037
U93034
U93035
U93036
U93037
U93034
U93035
U93036
M24782
U63721
U62292
CCDS CCDS43598.1
CCDS43599.1
CCDS47611.1
CCDS47612.1
CCDS5562.2
CCDS64673.1
CCDS64675.1
CCDS75616.1
PIR A32707
RefSeq NP_000492.2
NP_001075221.1
NP_001075222.1
NP_001075223.1
NP_001075224.1
NP_001265844.1
NP_001265845.1
UniGene Hs.647061
ProteinModelPortal P15502
BioGrid 108321
IntAct P15502
Allergome 11040
PhosphoSite P15502
DMDM 306526276
PaxDb P15502
PRIDE P15502
DNASU 2006
Ensembl ENST00000252034
ENST00000320399
ENST00000357036
ENST00000380553
ENST00000380562
ENST00000380575
ENST00000380576
ENST00000380584
ENST00000429192
GeneID 2006
KEGG hsa:2006
UCSC uc003tzn.3
uc003tzo.3
uc003tzq.3
uc003tzs.3
uc003tzt.3
uc003tzu.3
uc003tzv.3
uc003tzw.3
CTD 2006
GeneCards GC07P073442
GeneReviews ELN
H-InvDB HIX0006761
HGNC HGNC:3327
HPA CAB010750
HPA018111
HPA056941
MIM 123700
130160
185500
neXtProt NX_P15502
Orphanet 90348
3193
904
PharmGKB PA27757
eggNOG NOG331579
GeneTree ENSGT00730000111510
InParanoid P15502
KO K14211
TreeFam TF338594
Reactome REACT_118572
REACT_150331
REACT_150366
ChiTaRS ELN
GeneWiki Elastin
GenomeRNAi 2006
NextBio 8119
PMAP-CutDB P15502
PRO PR:P15502
Proteomes UP000005640
Bgee P15502
ExpressionAtlas P15502
Genevestigator P15502
GO GO:0071953
GO:0005576
GO:0005578
GO:0005201
GO:0008015
GO:0008283
GO:0022617
GO:0030198
GO:0009887
GO:0007585
InterPro IPR003979
PRINTS PR01500

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

Contributes to

GO:0060311

negative regulation of elastin catabolic process

PMID:24358135[1]

ECO:0000314

P

Figure 9 shows where the boundaries of the elastic lamellae layers are compromised and loose amorphous elastin has been exposed as a result of elastase digestion.

complete
CACAO 9316

enables

GO:0030023

extracellular matrix constituent conferring elasticity

PMID:28327460[2]

ECO:0007666

automatically integrated combinatorial computational and experimental evidence used in manual assertion

F

occurs_in:(CL:0002570)

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

PMID:28327460[2]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

part_of:(CL:0002570)

Seeded From UniProt

complete

enables

GO:0030023

extracellular matrix constituent conferring elasticity

PMID:27559042[3]

ECO:0007666

automatically integrated combinatorial computational and experimental evidence used in manual assertion

F

  • occurs_in:(UBERON:0006618)
  • occurs_in:(UBERON:0002302)

Seeded From UniProt

complete

involved_in

GO:0003151

outflow tract morphogenesis

PMID:8132745[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

PMID:28675934[5]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

part_of:(UBERON:0003688)

Seeded From UniProt

complete

enables

GO:0030023

extracellular matrix constituent conferring elasticity

PMID:28675934[5]

ECO:0007666

automatically integrated combinatorial computational and experimental evidence used in manual assertion

F

occurs_in:(UBERON:0003688)

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

PMID:25037231[6]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

part_of:(UBERON:0002107)

Seeded From UniProt

complete

enables

GO:0005201

extracellular matrix structural constituent

PMID:25037231[6]

ECO:0007666

automatically integrated combinatorial computational and experimental evidence used in manual assertion

F

occurs_in:(UBERON:0001155)

Seeded From UniProt

complete

involved_in

GO:0003180

aortic valve morphogenesis

PMID:8132745[4]

ECO:0000305

curator inference used in manual assertion

GO:0003151

P

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

PMID:25037231[6]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

part_of:(UBERON:0001155)

Seeded From UniProt

complete

enables

GO:0005201

extracellular matrix structural constituent

PMID:25037231[6]

ECO:0007666

automatically integrated combinatorial computational and experimental evidence used in manual assertion

F

occurs_in:(UBERON:0002107)

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

PMID:27559042[3]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

  • part_of:(UBERON:0006618)
  • part_of:(UBERON:0002302)

Seeded From UniProt

complete

part_of

GO:0071953

elastic fiber

PMID:7534784[7]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(UBERON:0000014)

Seeded From UniProt

complete

part_of

GO:0071953

elastic fiber

PMID:10424889[8]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(UBERON:0002097)

Seeded From UniProt

complete

part_of

GO:0071953

elastic fiber

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:95317
PANTHER:PTN001931357
UniProtKB:P04985
UniProtKB:P15502

C

Seeded From UniProt

complete

part_of

GO:0071953

elastic fiber

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P54320
ensembl:ENSMUSP00000015138

C

Seeded From UniProt

complete

enables

GO:0050840

extracellular matrix binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P54320
ensembl:ENSMUSP00000015138

F

Seeded From UniProt

complete

involved_in

GO:0043149

stress fiber assembly

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P54320
ensembl:ENSMUSP00000015138

P

Seeded From UniProt

complete

involved_in

GO:0030833

regulation of actin filament polymerization

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P54320
ensembl:ENSMUSP00000015138

P

Seeded From UniProt

complete

involved_in

GO:0030198

extracellular matrix organization

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P54320
ensembl:ENSMUSP00000015138

P

Seeded From UniProt

complete

involved_in

GO:0007519

skeletal muscle tissue development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P54320
ensembl:ENSMUSP00000015138

P

Seeded From UniProt

complete

enables

GO:0005201

extracellular matrix structural constituent

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003979

F

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003979

C

Seeded From UniProt

complete

involved_in

GO:0009887

animal organ morphogenesis

PMID:9580666[10]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0048660

regulation of smooth muscle cell proliferation

PMID:9607766[11]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0008015

blood circulation

PMID:8096434[12]
PMID:9873040[13]

ECO:0000304

author statement supported by traceable reference used in manual assertion


P

Seeded From UniProt

complete

involved_in

GO:0007585

respiratory gaseous exchange

PMID:9873040[13]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0031012

extracellular matrix

PMID:9580666[10]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005201

extracellular matrix structural constituent

PMID:9580666[10]

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0030198

extracellular matrix organization

Reactome:R-HSA-1474244

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005576

extracellular region

Reactome:R-NUL-2426460
Reactome:R-HSA-2514790
Reactome:R-HSA-2161293
Reactome:R-HSA-2161282
Reactome:R-HSA-2129375
Reactome:R-HSA-2129353
Reactome:R-HSA-1592387
Reactome:R-HSA-1566962

ECO:0000304

author statement supported by traceable reference used in manual assertion








C

Seeded From UniProt

complete

part_of

GO:0005576

extracellular region

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0964

C

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ Chow, MJ et al. (2013) The effect of static stretch on elastin degradation in arteries. PLoS ONE 8 e81951 PubMed GONUTS page
  2. ↑ 2.0 2.1 Ragelle, H et al. (2017) Comprehensive proteomic characterization of stem cell-derived extracellular matrices. Biomaterials 128 147-159 PubMed GONUTS page
  3. ↑ 3.0 3.1 Barallobre-Barreiro, J et al. (2016) Glycoproteomics Reveals Decorin Peptides With Anti-Myostatin Activity in Human Atrial Fibrillation. Circulation 134 817-32 PubMed GONUTS page
  4. ↑ 4.0 4.1 Ewart, AK et al. (1994) Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J. Clin. Invest. 93 1071-7 PubMed GONUTS page
  5. ↑ 5.0 5.1 Naba, A et al. (2017) Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics. J. Proteome Res. 16 3083-3091 PubMed GONUTS page
  6. ↑ 6.0 6.1 6.2 6.3 Naba, A et al. (2014) Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver. BMC Cancer 14 518 PubMed GONUTS page
  7. ↑ Roark, EF et al. (1995) The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study. J. Histochem. Cytochem. 43 401-11 PubMed GONUTS page
  8. ↑ Toyoshima, T et al. (1999) Ultrastructural distribution of 36-kD microfibril-associated glycoprotein (MAGP-36) in human and bovine tissues. J. Histochem. Cytochem. 47 1049-56 PubMed GONUTS page
  9. ↑ Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  10. ↑ 10.0 10.1 10.2 Tassabehji, M et al. (1998) An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum. Mol. Genet. 7 1021-8 PubMed GONUTS page
  11. ↑ Li, DY et al. (1998) Elastin is an essential determinant of arterial morphogenesis. Nature 393 276-80 PubMed GONUTS page
  12. ↑ Curran, ME et al. (1993) The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73 159-68 PubMed GONUTS page
  13. ↑ 13.0 13.1 Zhang, MC et al. (1999) Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J. Biol. Chem. 274 981-6 PubMed GONUTS page
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