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    ELN elastin [ Homo sapiens (human) ]

    Gene ID: 2006, updated on 11-Jul-2021

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ELN in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74027772..74069907)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73442503..73484237)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transmembrane protein 270 Neighboring gene Sharpr-MPRA regulatory region 9451 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
    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 RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    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
      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_001278918.2NP_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/TrEMBL
      F8WAH6
      Conserved Domains (1) summary
      pfam05642
      Location:129183
      Sporozoite_P67; Sporozoite P67 surface antigen

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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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