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ELN elastin [ Homo sapiens (human) ]

Gene ID: 2006, updated on 8-Oct-2022

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
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Genomic context

See ELN in Genome Data Viewer
Location:
7q11.23
Exon count:
34
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74028173..74069907)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75231309..75273042)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73442503..73484237)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8209 Neighboring gene Sharpr-MPRA regulatory region 9451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73476445-73476945 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 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
enables extracellular matrix binding 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 ISS
Inferred from Sequence or Structural Similarity
more info
 
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
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 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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in 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 
involved_in skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in stress fiber assembly IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  12. NM_001278918.2NP_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_001278939.2NP_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
    Q9UMF5
    UniProtKB/TrEMBL
    F8WAH6
    Related
    ENSP00000510104.1, ENST00000692049.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    74028173..74069907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515868.3XP_011514170.1  elastin isoform X1

  2. XM_011515876.3XP_011514178.1  elastin isoform X21

  3. XM_011515873.3XP_011514175.1  elastin isoform X7

  4. XM_011515872.3XP_011514174.1  elastin isoform X6

  5. XM_047419965.1XP_047275921.1  elastin isoform X25

  6. XM_011515877.3XP_011514179.1  elastin isoform X27

  7. XM_011515871.3XP_011514173.1  elastin isoform X4

  8. XM_047419959.1XP_047275915.1  elastin isoform X17

  9. XM_017011814.3XP_016867303.1  elastin isoform X20

  10. XM_047419981.1XP_047275937.1  elastin isoform X42

  11. XM_047419968.1XP_047275924.1  elastin isoform X29

  12. XM_047419971.1XP_047275927.1  elastin isoform X32

    Related
    ENSP00000369926.4, ENST00000380553.8
  13. XM_047419954.1XP_047275910.1  elastin isoform X10

  14. XM_047419970.1XP_047275926.1  elastin isoform X31

  15. XM_047419972.1XP_047275928.1  elastin isoform X33

  16. XM_005250188.2XP_005250245.1  elastin isoform X8

  17. XM_047419966.1XP_047275922.1  elastin isoform X26

  18. XM_047419969.1XP_047275925.1  elastin isoform X30

  19. XM_047419967.1XP_047275923.1  elastin isoform X28

  20. XM_011515870.2XP_011514172.1  elastin isoform X3

  21. XM_047419956.1XP_047275912.1  elastin isoform X14

  22. XM_047419957.1XP_047275913.1  elastin isoform X15

  23. XM_005250187.3XP_005250244.1  elastin isoform X5

  24. XM_047419963.1XP_047275919.1  elastin isoform X23

  25. XM_047419978.1XP_047275934.1  elastin isoform X39

  26. XM_047419964.1XP_047275920.1  elastin isoform X24

  27. XM_047419958.1XP_047275914.1  elastin isoform X16

  28. XM_047419979.1XP_047275935.1  elastin isoform X40

  29. XM_011515869.2XP_011514171.1  elastin isoform X2

  30. XM_047419955.1XP_047275911.1  elastin isoform X12

  31. XM_047419973.1XP_047275929.1  elastin isoform X34

  32. XM_047419960.1XP_047275916.1  elastin isoform X18

  33. XM_047419976.1XP_047275932.1  elastin isoform X37

  34. XM_047419962.1XP_047275918.1  elastin isoform X22

  35. XM_047419961.1XP_047275917.1  elastin isoform X19

  36. XM_047419980.1XP_047275936.1  elastin isoform X41

  37. XM_017011813.1XP_016867302.1  elastin isoform X13

  38. XM_047419977.1XP_047275933.1  elastin isoform X38

  39. XM_011515874.2XP_011514176.1  elastin isoform X9

  40. XM_011515875.3XP_011514177.1  elastin isoform X11

  41. XM_047419974.1XP_047275930.1  elastin isoform X35

  42. XM_047419975.1XP_047275931.1  elastin isoform X36

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    75231309..75273042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)