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    Eln elastin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 25043, updated on 16-Apr-2024

    Summary

    Official Symbol
    Elnprovided by RGD
    Official Full Name
    elastinprovided by RGD
    Primary source
    RGD:67394
    See related
    Ensembl:ENSRNOG00000001469 AllianceGenome:RGD:67394
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Trela; TREL11; Trela26; RATTREL11
    Summary
    Enables extracellular matrix constituent conferring elasticity. Involved in several processes, including cellular response to L-ascorbic acid; cellular response to growth factor stimulus; and cellular response to lipid. Located in extracellular matrix and extracellular space. Used to study abdominal aortic aneurysm. Biomarker of autosomal recessive polycystic kidney disease; bladder neck obstruction; congenital diaphragmatic hernia; liver cirrhosis; and silicosis. Human ortholog(s) of this gene implicated in several diseases, including Williams-Beuren syndrome; aortic disease (multiple); autoimmune disease (multiple); cutis laxa (multiple); and retinal disease (multiple). Orthologous to human ELN (elastin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Lung (RPKM 2587.0), Heart (RPKM 1006.0) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    12q12
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 12 NC_086030.1 (27604983..27648413)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 12 NC_051347.1 (21968544..22011929)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 12 NC_005111.4 (24978478..25021864)

    Chromosome 12 - NC_086030.1Genomic Context describing neighboring genes Neighboring gene claudin-4-like Neighboring gene uncharacterized LOC120095920 Neighboring gene transmembrane protein 270 Neighboring gene uncharacterized LOC102553484 Neighboring gene LIM domain kinase 1 Neighboring gene 40S ribosomal protein S14 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in aorta development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in aortic valve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aortic valve morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in blood vessel remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to L-ascorbic acid IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to copper ion IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to dexamethasone stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to fibroblast growth factor stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to organic cyclic compound IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to retinoic acid IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to transforming growth factor beta stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in elastic fiber assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in extracellular matrix assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within extracellular matrix organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outflow tract morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of actin filament polymerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to hyperoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within skeletal muscle tissue development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in stress fiber assembly IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within stress fiber assembly ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in elastic fiber IEA
    Inferred from Electronic Annotation
    more info
     
    located_in elastic fiber ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    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.

    mRNA and Protein(s)

    1. NM_012722.1NP_036854.1  elastin precursor

      See identical proteins and their annotated locations for NP_036854.1

      Status: PROVISIONAL

      Source sequence(s)
      BC085910
      UniProtKB/Swiss-Prot
      Q5RKH4, Q99372
      Related
      ENSRNOP00000030301.6, ENSRNOT00000032780.8

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086030.1 Reference GRCr8

      Range
      27604983..27648413
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063271069.1XP_063127139.1  elastin isoform X1

      UniProtKB/TrEMBL
      A0A0G2JST5
    2. XM_063271072.1XP_063127142.1  elastin isoform X3

    3. XM_063271071.1XP_063127141.1  elastin isoform X2

    4. XM_063271073.1XP_063127143.1  elastin isoform X4

      UniProtKB/TrEMBL
      D4A9U4
    5. XM_063271074.1XP_063127144.1  elastin isoform X5

    6. XM_063271075.1XP_063127145.1  elastin isoform X6

      UniProtKB/TrEMBL
      A0A8I6APE9