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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
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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)

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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