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    ELN elastin [ Homo sapiens (human) ]

    Gene ID: 2006, updated on 5-Aug-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
    NEW
    Try the new Gene table
    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
    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 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
    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)