ELN elastin [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELNprovided by HGNC
Official Full Name: elastinprovided by HGNC
Primary source: HGNC:HGNC:3327
See related: Ensembl:ENSG00000049540 MIM:130160; AllianceGenome:HGNC:3327
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: WS; WBS; SVAS; ADCL1
Summary: 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 encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]
Expression: Broad expression in urinary bladder (RPKM 40.8), gall bladder (RPKM 38.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (74028173..74069907)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (75231309..75273042)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (73442503..73484237)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Matrix Protein Tropoelastin Prolongs Mesenchymal Stromal Cell Vitality and Delays Senescence During Replicative Aging.
Title: The Matrix Protein Tropoelastin Prolongs Mesenchymal Stromal Cell Vitality and Delays Senescence During Replicative Aging.
Impact of Cyclic Strain on Elastin Synthesis in a 3D Human Myometrial Culture Model.
Title: Impact of Cyclic Strain on Elastin Synthesis in a 3D Human Myometrial Culture Model.
Lysyl oxidase-mediated elastin upregulation promotes the proliferation and migration of human retinal endothelial cells.
Title: Lysyl oxidase-mediated elastin upregulation promotes the proliferation and migration of human retinal endothelial cells.
A non-canonical role of ELN protects from cellular senescence by limiting iron-dependent regulation of gene expression.
Title: A non-canonical role of ELN protects from cellular senescence by limiting iron-dependent regulation of gene expression.
Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.
Title: Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.
TGF-alpha/EGFR signaling promotes lipopolysaccharide-induced abnormal elastin deposition and alveolar simplification.
Title: TGF-α/EGFR signaling promotes lipopolysaccharide-induced abnormal elastin deposition and alveolar simplification.
Elastin recoil is driven by the hydrophobic effect.
Title: Elastin recoil is driven by the hydrophobic effect.
Single Nucleotide Polymorphisms Mutation of Tropoelastin Gene Affects Tropoelastin mRNA and Elastin Expressions in Human Aortic Smooth Muscle Cells.
Title: Single Nucleotide Polymorphisms Mutation of Tropoelastin Gene Affects Tropoelastin mRNA and Elastin Expressions in Human Aortic Smooth Muscle Cells.
Configuration of elastin fibers in the intra- and extra-capsule ligaments of the elderly cricoarytenoid joint.
Title: Configuration of elastin fibers in the intra- and extra-capsule ligaments of the elderly cricoarytenoid joint.
Elastin stabilization prevents impaired biomechanics in human pulmonary arteries and pulmonary hypertension in rats with left heart disease.
Title: Elastin stabilization prevents impaired biomechanics in human pulmonary arteries and pulmonary hypertension in rats with left heart disease.

Submit: New GeneRIF Correction See all GeneRIFs (219)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cutis laxa, autosomal dominant 1 MedGen: C3276539 OMIM: 123700 GeneReviews: FBLN5-Related Cutis Laxa, ELN-Related Cutis Laxa	Compare labs
Supravalvar aortic stenosis MedGen: C0003499 OMIM: 185500 GeneReviews: Not available	Compare labs
Williams syndrome MedGen: C0175702 OMIM: 194050 GeneReviews: Williams Syndrome	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2012-07-10) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-10) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2764 (e-PCR)
- UniSTS:46111

GDB:360310 (e-PCR)
- UniSTS:156716

GDB:3754258 (e-PCR)
- UniSTS:25142

D7S2764 (e-PCR)
- UniSTS:51514

GDB:181244 (e-PCR)
- UniSTS:155212

GDB:226550 (e-PCR)
- UniSTS:156240

Eln (e-PCR), detects polymorphism
- UniSTS:230789

SHGC-149516 (e-PCR)
- UniSTS:177051

G31704 (e-PCR)
- UniSTS:70812

SHGC-36654 (e-PCR)
- UniSTS:65705

D7S3270 (e-PCR)
- UniSTS:254169

D7S3298 (e-PCR)
- UniSTS:254197

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix constituent conferring elasticity	IEA Inferred from Electronic Annotation more info
enables extracellular matrix constituent conferring elasticity	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables extracellular matrix structural constituent	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables extracellular matrix structural constituent	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in aortic valve morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in aortic valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in blood circulation	TAS Traceable Author Statement more info	PubMed
involved_in extracellular matrix assembly	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of actin filament polymerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of smooth muscle cell proliferation	TAS Traceable Author Statement more info	PubMed
involved_in respiratory gaseous exchange by respiratory system	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within stress fiber assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in elastic fiber	IDA Inferred from Direct Assay more info	PubMed
located_in elastic fiber	IEA Inferred from Electronic Annotation more info
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: elastin

Names: tropoelastin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009261.1 RefSeqGene

Range

5077..46811

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000501.4 → NP_000492.2 elastin isoform a precursor

See identical proteins and their annotated locations for NP_000492.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform (a).

Source sequence(s)

AA600350, AC005056, BC035570

Consensus CDS

CCDS5562.2

UniProtKB/TrEMBL

B4E3S4

Related

ENSP00000252034.7, ENST00000252034.12
NM_001081752.3 → NP_001075221.1 elastin isoform b precursor

See identical proteins and their annotated locations for NP_001075221.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AA600350, AC005056, BX538199

Consensus CDS

CCDS43599.1

UniProtKB/TrEMBL

B4E3S4

Related

ENSP00000369949.4, ENST00000380575.8
NM_001081753.3 → NP_001075222.1 elastin isoform c precursor

See identical proteins and their annotated locations for NP_001075222.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform c), compared to isoform a.

Source sequence(s)

AA600350, AC005056, AK095990

Consensus CDS

CCDS47611.1

UniProtKB/TrEMBL

B4E3S4

Related

ENSP00000391129.1, ENST00000429192.5
NM_001081754.3 → NP_001075223.1 elastin isoform d precursor

See identical proteins and their annotated locations for NP_001075223.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform d), compared to isoform a.

Source sequence(s)

AA600350, AC005056, BX537939

Consensus CDS

CCDS43598.1

UniProtKB/TrEMBL

B4E3S4

Related

ENSP00000349540.5, ENST00000357036.9
NM_001081755.3 → NP_001075224.1 elastin isoform e precursor

See identical proteins and their annotated locations for NP_001075224.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks alternate in-frame exons and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform e), compared to isoform a.

Source sequence(s)

AA600350, AC005056, AK225659

Consensus CDS

CCDS47612.1

UniProtKB/TrEMBL

B4E3S4

Related

ENSP00000369950.5, ENST00000380576.9
NM_001278912.2 → NP_001265841.1 elastin isoform f precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform f which is shorter compared to isoform a.

Source sequence(s)

AA600350, AC005056, AK304845

Consensus CDS

CCDS64674.1

UniProtKB/TrEMBL

B4E3S4, E7ENM0

Related

ENSP00000389857.1, ENST00000445912.5
NM_001278913.2 → NP_001265842.1 elastin isoform g precursor

See identical proteins and their annotated locations for NP_001265842.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) has multiple differences in the coding region but maintains the reading frame compared to variant 1. It encodes isoform g which is shorter compared to isoform a.

Source sequence(s)

AA600350, AC005056, AK075554

Consensus CDS

CCDS64676.1

UniProtKB/TrEMBL

G5E950, Q8NBI4

Related

ENSP00000315607.7, ENST00000320492.11
NM_001278914.2 → NP_001265843.1 elastin isoform h precursor

See identical proteins and their annotated locations for NP_001265843.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks two in-frame exons in the coding region compared to variant 1. It encodes isoform h which is shorter compared to isoform a.

Source sequence(s)

AA600350, AC005056, AK125511

Consensus CDS

CCDS64677.1

UniProtKB/TrEMBL

B4E3S4, G3V0G6

Related

ENSP00000392575.1, ENST00000414324.5
NM_001278915.2 → NP_001265844.1 elastin isoform i precursor

See identical proteins and their annotated locations for NP_001265844.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) uses an alternate in-frame splice site in the central coding region compared to variant 1. It encodes isoform i which is longer compared to isoform a.

Source sequence(s)

AA600350, AC005056, M36860

Consensus CDS

CCDS64673.1

UniProtKB/TrEMBL

B4E3S4

Related

ENSP00000369936.4, ENST00000380562.8
NM_001278916.2 → NP_001265845.1 elastin isoform j precursor

See identical proteins and their annotated locations for NP_001265845.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) has multiple differences in the coding region but maintains the reading frame compared to variant 1. It encodes isoform j which is shorter compared to isoform a.

Source sequence(s)

AC005056, BC065566

Consensus CDS

CCDS64675.1

UniProtKB/TrEMBL

B4E3S4

Related

ENSP00000369958.4, ENST00000380584.8
NM_001278917.2 → NP_001265846.1 elastin isoform k precursor

Status: REVIEWED

Description

Transcript Variant: This variant (11) lacks an in-frame exon in the 3' coding region compared to variant 1. It encodes isoform k which is shorter compared to isoform a.

Source sequence(s)

AA600350, AB208942

Consensus CDS

CCDS64678.1

UniProtKB/TrEMBL

B4E3S4, E7EN65

Related

ENSP00000403162.1, ENST00000458204.5
NM_001278918.2 → NP_001265847.1 elastin isoform l precursor

See identical proteins and their annotated locations for NP_001265847.1

Status: REVIEWED

Description

Transcript Variant: This variant (12) has multiple differences in the coding region but maintains the reading frame compared to variant 1. It encodes isoform l which is shorter compared to isoform a.

Source sequence(s)

AA600350, AC005056, AK092232

Consensus CDS

CCDS75617.1

UniProtKB/TrEMBL

B3KRT8, Q8NBI4

Related

ENSP00000480955.1, ENST00000621115.4
NM_001278939.2 → NP_001265868.1 elastin isoform m precursor

Status: REVIEWED

Description

Transcript Variant: This variant (13) has multiple difference in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (m) is longer than isoform a. This variant lacks full-length support. The structure is based on PMID: 9215671.

Source sequence(s)

AC005056

Consensus CDS

CCDS75616.1

UniProtKB/Swiss-Prot

B3KTS6, O15336, O15337, P15502, Q14233, Q14234, Q14235, Q14238, Q6P0L4, Q6ZWJ6, Q75MU5, Q7Z316, Q7Z3F5, Q9UMF5

UniProtKB/TrEMBL

A7L3I8

Related

ENSP00000510104.1, ENST00000692049.1