LOCUS       NM_000501               3397 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens elastin (ELN), transcript variant 1, mRNA.
ACCESSION   NM_000501
VERSION     NM_000501.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3397)
  AUTHORS   Lee,S.S., Al Halawani,A., Teo,J.D., Weiss,A.S. and Yeo,G.C.
  TITLE     The Matrix Protein Tropoelastin Prolongs Mesenchymal Stromal Cell
            Vitality and Delays Senescence During Replicative Aging
  JOURNAL   Adv Sci (Weinh) 11 (39), e2402168 (2024)
   PUBMED   39120048
  REMARK    GeneRIF: The Matrix Protein Tropoelastin Prolongs Mesenchymal
            Stromal Cell Vitality and Delays Senescence During Replicative
            Aging.
REFERENCE   2  (bases 1 to 3397)
  AUTHORS   Nietupski,C.A., Moset Zupan,A. and Schutte,S.C.
  TITLE     Impact of Cyclic Strain on Elastin Synthesis in a 3D Human
            Myometrial Culture Model
  JOURNAL   Tissue Eng Part C Methods 30 (7), 279-288 (2024)
   PUBMED   38943281
  REMARK    GeneRIF: Impact of Cyclic Strain on Elastin Synthesis in a 3D Human
            Myometrial Culture Model.
REFERENCE   3  (bases 1 to 3397)
  AUTHORS   Tassabehji,M., Metcalfe,K., Donnai,D., Hurst,J., Reardon,W.,
            Burch,M. and Read,A.P.
  TITLE     Elastin: genomic structure and point mutations in patients with
            supravalvular aortic stenosis
  JOURNAL   Hum Mol Genet 6 (7), 1029-1036 (1997)
   PUBMED   9215671
REFERENCE   4  (bases 1 to 3397)
  AUTHORS   Curran,M.E., Atkinson,D.L., Ewart,A.K., Morris,C.A., Leppert,M.F.
            and Keating,M.T.
  TITLE     The elastin gene is disrupted by a translocation associated with
            supravalvular aortic stenosis
  JOURNAL   Cell 73 (1), 159-168 (1993)
   PUBMED   8096434
REFERENCE   5  (bases 1 to 3397)
  AUTHORS   Callewaert,B.L. and Urban,Z.
  TITLE     ELN-Related Cutis Laxa
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36173875
REFERENCE   6  (bases 1 to 3397)
  AUTHORS   Morris,C.A.
  TITLE     Williams Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301427
REFERENCE   7  (bases 1 to 3397)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   8  (bases 1 to 3397)
  AUTHORS   Wakui,H., Komatsuda,A., Itoh,H., Kobayashi,R., Nakamoto,Y. and
            Miura,A.B.
  TITLE     Renal argininosuccinate synthetase: purification,
            immunohistochemical localization, and elastin-binding property
  JOURNAL   Ren Physiol Biochem 15 (1), 1-9 (1992)
   PUBMED   1372742
REFERENCE   9  (bases 1 to 3397)
  AUTHORS   Fazio,M.J., Olsen,D.R., Kauh,E.A., Baldwin,C.T., Indik,Z.,
            Ornstein-Goldstein,N., Yeh,H., Rosenbloom,J. and Uitto,J.
  TITLE     Cloning of full-length elastin cDNAs from a human skin fibroblast
            recombinant cDNA library: further elucidation of alternative
            splicing utilizing exon-specific oligonucleotides
  JOURNAL   J Invest Dermatol 91 (5), 458-464 (1988)
   PUBMED   3171221
REFERENCE   10 (bases 1 to 3397)
  AUTHORS   Indik,Z., Yoon,K., Morrow,S.D., Cicila,G., Rosenbloom,J.,
            Rosenbloom,J. and Ornstein-Goldstein,N.
  TITLE     Structure of the 3' region of the human elastin gene: great
            abundance of Alu repetitive sequences and few coding sequences
  JOURNAL   Connect Tissue Res 16 (3), 197-211 (1987)
   PUBMED   3038460
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005056.2, BC035570.1 and
            AA600350.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000501.3.
            
            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].
            
            Transcript Variant: This variant (1) encodes isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035570.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252034.12/ ENSP00000252034.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AC005056.2         65959-65969         c
            12-3168             BC035570.1         1-3157
            3169-3397           AA600350.1         9-237               c
FEATURES             Location/Qualifiers
     source          1..3397
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..3397
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="elastin"
                     /db_xref="GeneID:2006"
                     /db_xref="HGNC:HGNC:3327"
                     /db_xref="MIM:130160"
     exon            1..97
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..2190
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; tropoelastin"
                     /codon_start=1
                     /product="elastin isoform a precursor"
                     /protein_id="NP_000492.2"
                     /db_xref="CCDS:CCDS5562.2"
                     /db_xref="GeneID:2006"
                     /db_xref="HGNC:HGNC:3327"
                     /db_xref="MIM:130160"
                     /translation="MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYP
                     GAGLGALGGGALGPGGKPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAA
                     YKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARF
                     PGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYG
                     LPYTTGKLPYGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPG
                     VGGAGVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVV
                     GVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVG
                     GIPTYGVGAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISPEAQAAAAAKAA
                     KYGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVG
                     VAPGVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGA
                     GVPGLGVGAGVPGFGAVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPA
                     AAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVPGVGGLGGIPPAAAAKAAKYGAAGL
                     GGVLGGAGQFPLGGVAARPGFGLSPIFPGGACLGKACGRKRK"
     exon            98..148
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            149..178
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            179..211
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            212..247
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            248..340
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            341..391
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            392..442
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            443..484
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            485..556
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            557..586
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            587..658
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            659..700
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            701..760
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            761..814
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            815..904
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            905..964
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1111
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1165
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1330
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..1372
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1373..1429
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1430..1591
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1592..1636
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..1762
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1763..1801
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..1873
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1874..1933
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1934..2008
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            2009..2047
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            2048..2101
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            2102..2146
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            2147..3397
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3142..3147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="hexamer: AATAAA"
     polyA_site      3168
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="major polyA site"
     regulatory      3376..3381
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="hexamer: AATGAA"
     polyA_site      3397
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="major polyA site"
ORIGIN      
        1 gcatttctcc ccgagatggc gggtctgacg gcggcggccc cgcggcccgg agtcctcctg
       61 ctcctgctgt ccatcctcca cccctctcgg cctggagggg tccctggggc cattcctggt
      121 ggagttcctg gaggagtctt ttatccaggg gctggtctcg gagcccttgg aggaggagcg
      181 ctggggcctg gaggcaaacc tcttaagcca gttcccggag ggcttgcggg tgctggcctt
      241 ggggcagggc tcggcgcctt ccccgcagtt acctttccgg gggctctggt gcctggtgga
      301 gtggctgacg ctgctgcagc ctataaagct gctaaggctg gcgctgggct tggtggtgtc
      361 ccaggagttg gtggcttagg agtgtctgca ggtgcggtgg ttcctcagcc tggagccgga
      421 gtgaagcctg ggaaagtgcc gggtgtgggg ctgccaggtg tatacccagg tggcgtgctc
      481 ccaggagctc ggttccccgg tgtgggggtg ctccctggag ttcccactgg agcaggagtt
      541 aagcccaagg ctccaggtgt aggtggagct tttgctggaa tcccaggagt tggacccttt
      601 gggggaccgc aacctggagt cccactgggg tatcccatca aggcccccaa gctgcctggt
      661 ggctatggac tgccctacac cacagggaaa ctgccctatg gctatgggcc cggaggagtg
      721 gctggtgcag cgggcaaggc tggttaccca acagggacag gggttggccc ccaggcagca
      781 gcagcagcgg cagctaaagc agcagcaaag ttcggtgctg gagcagccgg agtcctccct
      841 ggtgttggag gggctggtgt tcctggcgtg cctggggcaa ttcctggaat tggaggcatc
      901 gcaggcgttg ggactccagc tgcagctgca gctgcagcag cagccgctaa ggcagccaag
      961 tatggagctg ctgcaggctt agtgcctggt gggccaggct ttggcccggg agtagttggt
     1021 gtcccaggag ctggcgttcc aggtgttggt gtcccaggag ctgggattcc agttgtccca
     1081 ggtgctggga tcccaggtgc tgcggttcca ggggttgtgt caccagaagc agctgctaag
     1141 gcagctgcaa aggcagccaa atacggggcc aggcccggag tcggagttgg aggcattcct
     1201 acttacgggg ttggagctgg gggctttccc ggctttggtg tcggagtcgg aggtatccct
     1261 ggagtcgcag gtgtccctgg tgtcggaggt gttcccggag tcggaggtgt cccgggagtt
     1321 ggcatttccc ccgaagctca ggcagcagct gccgccaagg ctgccaagta cggagtgggg
     1381 accccagcag ctgcagctgc taaagcagcc gccaaagccg cccagtttgg gttagttcct
     1441 ggtgtcggcg tggctcctgg agttggcgtg gctcctggtg tcggtgtggc tcctggagtt
     1501 ggcttggctc ctggagttgg cgtggctcct ggagttggtg tggctcctgg cgttggcgtg
     1561 gctcccggca ttggccctgg tggagttgca gctgcagcaa aatccgctgc caaggtggct
     1621 gccaaagccc agctccgagc tgcagctggg cttggtgctg gcatccctgg acttggagtt
     1681 ggtgtcggcg tccctggact tggagttggt gctggtgttc ctggacttgg agttggtgct
     1741 ggtgttcctg gcttcggggc agtacctgga gccctggctg ccgctaaagc agccaaatat
     1801 ggagcagcag tgcctggggt ccttggaggg ctcggggctc tcggtggagt aggcatccca
     1861 ggcggtgtgg tgggagccgg acccgccgcc gccgctgccg cagccaaagc tgctgccaaa
     1921 gccgcccagt ttggcctagt gggagccgct gggctcggag gactcggagt cggagggctt
     1981 ggagttccag gtgttggggg ccttggaggt atacctccag ctgcagccgc taaagcagct
     2041 aaatacggtg ctgctggcct tggaggtgtc ctagggggtg ccgggcagtt cccacttgga
     2101 ggagtggcag caagacctgg cttcggattg tctcccattt tcccaggtgg ggcctgcctg
     2161 gggaaagctt gtggccggaa gagaaaatga gcttcctagg acccctgact cacgacctca
     2221 tcaacgttgg tgctactgct tggtggagaa tgtaaaccct ttgtaacccc atcccatgcc
     2281 cctccgactc cccaccccag gagggaacgg gcaggccggg cggccttgca gatccacagg
     2341 gcaaggaaac aagaggggag cggccaagtg ccccgaccag gaggccccct acttcagagg
     2401 caagggccat gtggtcctgg ccccccaccc catcccttcc cacctaggag ctccccctcc
     2461 acacagcctc catctccagg ggaacttggt gctacacgct ggtgctctta tcttcctggg
     2521 gggagggagg agggaagggt ggcccctcgg ggaaccccct acctggggct cctctaaaga
     2581 tggtgcagac acttcctggg cagtcccagc tccccctgcc caccaggacc caccgttggc
     2641 tgccatccag ttggtaccca agcacctgaa gcctcaaagc tggattcgct ctagcatccc
     2701 tcctctcctg ggtccacttg gccgtctcct ccccaccgat cgctgttccc cacatctggg
     2761 gcgcttttgg gttggaaaac caccccacac tgggaatagc caccttgccc ttgtagaatc
     2821 catccgccca tccgtccatt catccatcgg tccgtccatc catgtcccca gttgaccgcc
     2881 cggcaccact agctggctgg gtgcacccac catcaacctg gttgacctgt catggccgcc
     2941 tgtgccctgc ctccaccccc atcctacact cccccagggc gtgcggggct gtgcagactg
     3001 gggtgccagg catctcctcc ccacccgggg tgtccccaca tgcagtactg tatacccccc
     3061 atccctccct cggtccactg aacttcagag cagttcccat tcctgccccg cccatctttt
     3121 tgtgtctcgc tgtgatagat caataaatat tttatttttt gtcctggata tttggggatt
     3181 atttttgatt gttgatattc tcttttggtt ttattgttgt ggttcattga aaaaaaaaga
     3241 taattttttt ttctgatccg gggagctgta tccccagtag aaaaaacatt ttaatcactc
     3301 taatataact ctggatgaaa cacacctttt tttttaataa gaaaagagaa ttaactgctt
     3361 cagaaatgac taataaatga aaaaccttta aaggaaa
//
