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ELN elastin [ Homo sapiens (human) ]

Gene ID: 2006, updated on 24-May-2020

Summary

Official Symbol
ELNprovided by HGNC
Official Full Name
elastinprovided by HGNC
Primary source
HGNC:HGNC:3327
See related
Ensembl:ENSG00000049540 MIM:130160
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

Genomic context

See ELN in Genome Data Viewer
Location:
7q11.23
Exon count:
34
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74027772..74069907)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73442119..73484237)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene methyltransferase like 27 Neighboring gene transmembrane protein 270 Neighboring gene Sharpr-MPRA regulatory region 6518 Neighboring gene ELN antisense RNA 1 Neighboring gene LIM domain kinase 1 Neighboring gene Sharpr-MPRA regulatory region 11846 Neighboring gene eukaryotic translation initiation factor 4H

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cutis laxa, autosomal dominant 1
MedGen: C3276539 OMIM: 123700 GeneReviews: FBLN5-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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38671, FLJ43523

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix constituent conferring elasticity RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
aortic valve morphogenesis IC
Inferred by Curator
more info
PubMed 
blood circulation TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
regulation of smooth muscle cell proliferation TAS
Traceable Author Statement
more info
PubMed 
respiratory gaseous exchange TAS
Traceable Author Statement
more info
PubMed 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
stress fiber assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
elastic fiber IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 

NCBI Reference Sequences (RefSeq)

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

  1. NG_009261.1 RefSeqGene

    Range
    5077..46811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000501.4NP_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/Swiss-Prot
    P15502
    Related
    ENSP00000252034.7, ENST00000252034.12
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  2. NM_001081752.3NP_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/Swiss-Prot
    P15502
    Related
    ENSP00000369949.4, ENST00000380575.8
    Conserved Domains (1) summary
    pfam05642
    Location:119173
    Sporozoite_P67; Sporozoite P67 surface antigen
  3. NM_001081753.3NP_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/Swiss-Prot
    P15502
    Related
    ENSP00000391129.1, ENST00000429192.5
    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  4. NM_001081754.3NP_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/Swiss-Prot
    P15502
    Related
    ENSP00000349540.5, ENST00000357036.9
    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  5. NM_001081755.3NP_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/Swiss-Prot
    P15502
    Related
    ENSP00000369950.5, ENST00000380576.9
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  6. NM_001278912.2NP_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
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  7. NM_001278913.2NP_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
    Conserved Domains (1) summary
    pfam05642
    Location:117171
    Sporozoite_P67; Sporozoite P67 surface antigen
  8. NM_001278914.2NP_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
    G3V0G6, Q6ZUN2
    Related
    ENSP00000392575.1, ENST00000414324.5
    Conserved Domains (1) summary
    pfam05642
    Location:124178
    Sporozoite_P67; Sporozoite P67 surface antigen
  9. NM_001278915.2NP_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/Swiss-Prot
    P15502
    Related
    ENSP00000369936.4, ENST00000380562.8
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  10. NM_001278916.2NP_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/Swiss-Prot
    P15502
    Related
    ENSP00000369958.4, ENST00000380584.8
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  11. NM_001278917.2NP_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
    E7EN65, Q59H17
    Related
    ENSP00000403162.1, ENST00000458204.5
    Conserved Domains (1) summary
    pfam05642
    Location:119173
    Sporozoite_P67; Sporozoite P67 surface antigen
  12. NM_001278918.1NP_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
    Related
    ENSP00000480955.1, ENST00000621115.4
  13. NM_001278939.1NP_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/TrEMBL
    F8WAH6
    Related
    ENSP00000351807.5, ENST00000358929.8
    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    74027772..74069907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515870.1XP_011514172.1  elastin isoform X3

    Conserved Domains (1) summary
    pfam05642
    Location:122176
    Sporozoite_P67; Sporozoite P67 surface antigen
  2. XM_011515874.1XP_011514176.1  elastin isoform X9

    Conserved Domains (1) summary
    pfam05642
    Location:112166
    Sporozoite_P67; Sporozoite P67 surface antigen
  3. XM_011515875.2XP_011514177.1  elastin isoform X10

    Conserved Domains (1) summary
    pfam05642
    Location:107161
    Sporozoite_P67; Sporozoite P67 surface antigen
  4. XM_011515868.2XP_011514170.1  elastin isoform X1

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  5. XM_011515876.2XP_011514178.1  elastin isoform X12

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  6. XM_011515873.2XP_011514175.1  elastin isoform X7

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  7. XM_011515872.2XP_011514174.1  elastin isoform X6

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  8. XM_011515877.2XP_011514179.1  elastin isoform X14

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  9. XM_011515871.2XP_011514173.1  elastin isoform X4

    Conserved Domains (1) summary
    pfam05642
    Location:134188
    Sporozoite_P67; Sporozoite P67 surface antigen
  10. XM_017011814.2XP_016867303.1  elastin isoform X13

  11. XM_005250187.2XP_005250244.1  elastin isoform X5

    Conserved Domains (1) summary
    pfam05642
    Location:117171
    Sporozoite_P67; Sporozoite P67 surface antigen
  12. XM_011515869.1XP_011514171.1  elastin isoform X2

    Conserved Domains (1) summary
    pfam05642
    Location:124178
    Sporozoite_P67; Sporozoite P67 surface antigen
  13. XM_005250188.2XP_005250245.1  elastin isoform X8

    Conserved Domains (1) summary
    pfam05642
    Location:129183
    Sporozoite_P67; Sporozoite P67 surface antigen
  14. XM_017011813.1XP_016867302.1  elastin isoform X11

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