LOCUS       NM_007046               3890 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.
ACCESSION   NM_007046
VERSION     NM_007046.4
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 3890)
  AUTHORS   Capuano,A., Vescovo,M., Canesi,S., Pivetta,E., Doliana,R.,
            Nadin,M.G., Yamamoto,M., Tsukamoto,T., Nomura,S., Pilozzi,E.,
            Palumbo,A., Canzonieri,V., Cannizzaro,R., Scanziani,E.,
            Baldassarre,G., Mongiat,M. and Spessotto,P.
  TITLE     The extracellular matrix protein EMILIN-1 impacts on the
            microenvironment by hampering gastric cancer development and
            progression
  JOURNAL   Gastric Cancer 27 (5), 1016-1030 (2024)
   PUBMED   38941035
  REMARK    GeneRIF: The extracellular matrix protein EMILIN-1 impacts on the
            microenvironment by hampering gastric cancer development and
            progression.
REFERENCE   2  (bases 1 to 3890)
  AUTHORS   Mengzhen,Z., Xinwei,H., Zeheng,T., Nan,L., Yang,Y., Huirong,Y.,
            Kaisi,F., Xiaoting,D., Liucheng,Y. and Kai,W.
  TITLE     Integrated machine learning-driven disulfidptosis profiling: CYFIP1
            and EMILIN1 as therapeutic nodes in neuroblastoma
  JOURNAL   J Cancer Res Clin Oncol 150 (3), 109 (2024)
   PUBMED   38427078
  REMARK    GeneRIF: Integrated machine learning-driven disulfidptosis
            profiling: CYFIP1 and EMILIN1 as therapeutic nodes in
            neuroblastoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3890)
  AUTHORS   Honda,C.K., Kurozumi,S., Fujii,T., Pourquier,D., Khellaf,L.,
            Boissiere,F., Horiguchi,J., Oyama,T., Shirabe,K., Colinge,J.,
            Yokobori,T. and Turtoi,A.
  TITLE     Cancer-associated fibroblast spatial heterogeneity and EMILIN1
            expression in the tumor microenvironment modulate TGF-beta activity
            and CD8+ T-cell infiltration in breast cancer
  JOURNAL   Theranostics 14 (5), 1873-1885 (2024)
   PUBMED   38505604
  REMARK    GeneRIF: Cancer-associated fibroblast spatial heterogeneity and
            EMILIN1 expression in the tumor microenvironment modulate TGF-beta
            activity and CD8[+] T-cell infiltration in breast cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3890)
  AUTHORS   Deng,P., Huang,J., Zhang,Q., Li,Y. and Li,J.
  TITLE     The role of EMILIN-1 in the osteo/odontogenic differentiation of
            dental pulp stem cells
  JOURNAL   BMC Oral Health 23 (1), 203 (2023)
   PUBMED   37024847
  REMARK    GeneRIF: The role of EMILIN-1 in the osteo/odontogenic
            differentiation of dental pulp stem cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3890)
  AUTHORS   Adamo,C.S., Beyens,A., Schiavinato,A., Keene,D.R., Tufa,S.F.,
            Morgelin,M., Brinckmann,J., Sasaki,T., Niehoff,A., Dreiner,M.,
            Pottie,L., Muino-Mosquera,L., Gulec,E.Y., Gezdirici,A.,
            Braghetta,P., Bonaldo,P., Wagener,R., Paulsson,M., Bornaun,H., De
            Rycke,R., De Bruyne,M., Baeke,F., Devine,W.P., Gangaram,B., Tam,A.,
            Balasubramanian,M., Ellard,S., Moore,S., Symoens,S., Shen,J.,
            Cole,S., Schwarze,U., Holmes,K.W., Hayflick,S.J., Wiszniewski,W.,
            Nampoothiri,S., Davis,E.C., Sakai,L.Y., Sengle,G. and Callewaert,B.
  TITLE     EMILIN1 deficiency causes arterial tortuosity with osteopenia and
            connects impaired elastogenesis with defective collagen
            fibrillogenesis
  JOURNAL   Am J Hum Genet 109 (12), 2230-2252 (2022)
   PUBMED   36351433
  REMARK    GeneRIF: EMILIN1 deficiency causes arterial tortuosity with
            osteopenia and connects impaired elastogenesis with defective
            collagen fibrillogenesis.
REFERENCE   6  (bases 1 to 3890)
  AUTHORS   Spessotto,P., Cervi,M., Mucignat,M.T., Mungiguerra,G.,
            Sartoretto,I., Doliana,R. and Colombatti,A.
  TITLE     beta 1 Integrin-dependent cell adhesion to EMILIN-1 is mediated by
            the gC1q domain
  JOURNAL   J Biol Chem 278 (8), 6160-6167 (2003)
   PUBMED   12456677
  REMARK    GeneRIF: beta1 Integrin-dependent cell adhesion to this protein is
            mediated by its gC1q domain
REFERENCE   7  (bases 1 to 3890)
  AUTHORS   Doliana,R., Bot,S., Mungiguerra,G., Canton,A., Cilli,S.P. and
            Colombatti,A.
  TITLE     Isolation and characterization of EMILIN-2, a new component of the
            growing EMILINs family and a member of the EMI domain-containing
            superfamily
  JOURNAL   J Biol Chem 276 (15), 12003-12011 (2001)
   PUBMED   11278945
REFERENCE   8  (bases 1 to 3890)
  AUTHORS   Mongiat,M., Mungiguerra,G., Bot,S., Mucignat,M.T., Giacomello,E.,
            Doliana,R. and Colombatti,A.
  TITLE     Self-assembly and supramolecular organization of EMILIN
  JOURNAL   J Biol Chem 275 (33), 25471-25480 (2000)
   PUBMED   10821830
REFERENCE   9  (bases 1 to 3890)
  AUTHORS   Doliana,R., Canton,A., Bucciotti,F., Mongiat,M., Bonaldo,P. and
            Colombatti,A.
  TITLE     Structure, chromosomal localization, and promoter analysis of the
            human elastin microfibril interfase located proteIN (EMILIN) gene
  JOURNAL   J Biol Chem 275 (2), 785-792 (2000)
   PUBMED   10625608
REFERENCE   10 (bases 1 to 3890)
  AUTHORS   Doliana,R., Mongiat,M., Bucciotti,F., Giacomello,E., Deutzmann,R.,
            Volpin,D., Bressan,G.M. and Colombatti,A.
  TITLE     EMILIN, a component of the elastic fiber and a new member of the
            C1q/tumor necrosis factor superfamily of proteins
  JOURNAL   J Biol Chem 274 (24), 16773-16781 (1999)
   PUBMED   10358019
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL552691.3 and BC142688.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_007046.3.
            
            Summary: This gene encodes an extracellular matrix glycoprotein
            that is characterized by an N-terminal microfibril interface
            domain, a coiled-coiled alpha-helical domain, a collagenous domain
            and a C-terminal globular C1q domain. The encoded protein
            associates with elastic fibers at the interface between elastin and
            microfibrils and may play a role in the development of elastic
            tissues including large blood vessels, dermis, heart and lung.
            [provided by RefSeq, Sep 2009].
            
            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 :: BC142688.1, AL050138.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380320.9/ ENSP00000369677.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                AL552691.3         49-118
            71-3890             BC142688.1         1-3820
FEATURES             Location/Qualifiers
     source          1..3890
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..3890
                     /gene="EMILIN1"
                     /gene_synonym="ATBFS; EMI; EMILIN; gp115; HMN10; HMND10"
                     /note="elastin microfibril interfacer 1"
                     /db_xref="GeneID:11117"
                     /db_xref="HGNC:HGNC:19880"
                     /db_xref="MIM:130660"
     exon            1..621
                     /gene="EMILIN1"
                     /gene_synonym="ATBFS; EMI; EMILIN; gp115; HMN10; HMND10"
                     /inference="alignment:Splign:2.1.0"
     CDS             452..3502
                     /gene="EMILIN1"
                     /gene_synonym="ATBFS; EMI; EMILIN; gp115; HMN10; HMND10"
                     /note="elastin microfibril interface-located protein 1"
                     /codon_start=1
                     /product="EMILIN-1 precursor"
                     /protein_id="NP_008977.1"
                     /db_xref="CCDS:CCDS1733.1"
                     /db_xref="GeneID:11117"
                     /db_xref="HGNC:HGNC:19880"
                     /db_xref="MIM:130660"
                     /translation="MAPRTLWSCYLCCLLTAAAGAASYPPRGFSLYTGSSGALSPGGP
                     QAQIAPRPASRHRNWCAYVVTRTVSCVLEDGVETYVKYQPCAWGQPQCPQSIMYRRFL
                     RPRYRVAYKTVTDMEWRCCQGYGGDDCAESPAPALGPASSTPRPLARPARPNLSGSSA
                     GSPLSGLGGEGPGESEKVQQLEEQVQSLTKELQGLRGVLQGLSGRLAEDVQRAVETAF
                     NGRQQPADAAARPGVHETLNEIQHQLQLLDTRVSTHDQELGHLNNHHGGSSSSGGSRA
                     PAPASAPPGPSEELLRQLEQRLQESCSVCLAGLDGFRRQQQEDRERLRAMEKLLASVE
                     ERQRHLAGLAVGRRPPQECCSPELGRRLAELERRLDVVAGSVTVLSGRRGTELGGAAG
                     QGGHPPGYTSLASRLSRLEDRFNSTLGPSEEQEESWPGAPGGLSHWLPAARGRLEQLG
                     GLLANVSGELGGRLDLLEEQVAGAMQACGQLCSGAPGEQDSQVSEILSALERRVLDSE
                     GQLRLVGSGLHTVEAAGEARQATLEGLQEVVGRLQDRVDAQDETAAEFTLRLNLTAAR
                     LGQLEGLLQAHGDEGCGACGGVQEELGRLRDGVERCSCPLLPPRGPGAGPGVGGPSRG
                     PLDGFSVFGGSSGSALQALQGELSEVILSFSSLNDSLNELQTTVEGQGADLADLGATK
                     DRIISEINRLQQEATEHATESEERFRGLEEGQAQAGQCPSLEGRLGRLEGVCERLDTV
                     AGGLQGLREGLSRHVAGLWAGLRETNTTSQMQAALLEKLVGGQAGLGRRLGALNSSLQ
                     LLEDRLHQLSLKDLTGPAGEAGPPGPPGLQGPPGPAGPPGSPGKDGQEGPIGPPGPQG
                     EQGVEGAPAAPVPQVAFSAALSLPRSEPGTVPFDRVLLNDGGYYDPETGVFTAPLAGR
                     YLLSAVLTGHRHEKVEAVLSRSNQGVARVDSGGYEPEGLENKPVAESQPSPGTLGVFS
                     LILPLQAGDTVCVDLVMGQLAHSEEPLTIFSGALLYGDPELEHA"
     exon            622..741
                     /gene="EMILIN1"
                     /gene_synonym="ATBFS; EMI; EMILIN; gp115; HMN10; HMND10"
                     /inference="alignment:Splign:2.1.0"
     exon            742..962
                     /gene="EMILIN1"
                     /gene_synonym="ATBFS; EMI; EMILIN; gp115; HMN10; HMND10"
                     /inference="alignment:Splign:2.1.0"
     exon            963..2891
                     /gene="EMILIN1"
                     /gene_synonym="ATBFS; EMI; EMILIN; gp115; HMN10; HMND10"
                     /inference="alignment:Splign:2.1.0"
     exon            2892..3008
                     /gene="EMILIN1"
                     /gene_synonym="ATBFS; EMI; EMILIN; gp115; HMN10; HMND10"
                     /inference="alignment:Splign:2.1.0"
     exon            3009..3026
                     /gene="EMILIN1"
                     /gene_synonym="ATBFS; EMI; EMILIN; gp115; HMN10; HMND10"
                     /inference="alignment:Splign:2.1.0"
     exon            3027..3164
                     /gene="EMILIN1"
                     /gene_synonym="ATBFS; EMI; EMILIN; gp115; HMN10; HMND10"
                     /inference="alignment:Splign:2.1.0"
     exon            3165..3890
                     /gene="EMILIN1"
                     /gene_synonym="ATBFS; EMI; EMILIN; gp115; HMN10; HMND10"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 actctcgcgc ctccgaacag ccacaggggc aaagccctgt cacccccagg atccggtcat
       61 cagggaaaga ggacagggag accagaagag ggccagctgg gacgaggggg cggacgccca
      121 ggaggcaact tctgagacgc agctcctgag aggggcaggg accaggcgcg ggaggccaga
      181 gggggcacag agaacaaacc ccctcagaag tgaagaggag agcggaagga accgagaggg
      241 gacggacagg agctgaggag gaaagaggag gggagagggg tcaggccagg cagccaagga
      301 gaagacgtgt ggccgggggc tatcagaagg aaactgggac ggacgggccg ggctcgggct
      361 gtcctgtgga gcagcagcat ccccggggcc ggcagaggcg ccagtggctg ggcgggatga
      421 gtctctgagg gccactgtgg agcgccccgc catggccccc cgcaccctct ggagctgcta
      481 cctctgctgc ctgctgacgg cagctgcagg ggccgccagc taccctcctc gaggtttcag
      541 cctctacaca ggttccagtg gggccctcag ccccgggggg ccccaggccc agattgcccc
      601 ccggccagcc agccgccaca ggaactggtg tgcctacgtg gtgacccgga cagtgagctg
      661 tgtccttgag gatggagtgg agacatatgt caagtaccag ccttgtgcct ggggccagcc
      721 ccagtgtccc caaagcatca tgtaccgccg cttcctccgc cctcgctacc gtgtggccta
      781 caagacagtg accgacatgg agtggaggtg ctgtcagggt tatgggggcg atgactgtgc
      841 tgagagtccc gctccagcgc tggggcctgc gtcttccaca ccacggcccc tggcccggcc
      901 tgcccgcccc aacctctctg gctccagtgc aggcagcccc ctcagtggac tggggggaga
      961 aggtcctggg gagtcagaga aggtgcagca gctggaggaa caggtgcaga gcctgaccaa
     1021 ggagctgcaa ggcctgcggg gcgtcctgca aggactgagc gggcgcctgg cagaggatgt
     1081 gcagagggct gtggagacgg ccttcaacgg gaggcagcag ccagctgacg cggctgcccg
     1141 ccctggggtg catgaaaccc tcaatgagat ccagcaccag ctgcagctcc tggacacccg
     1201 cgtctccacc cacgaccagg agctgggtca cctcaacaac catcatggcg gcagcagcag
     1261 cagtgggggc agcagggccc cagccccagc ctcagcccct ccgggcccca gtgaggagct
     1321 gctgcggcag ctggagcagc ggttgcagga gtcctgctcc gtgtgcctgg ccgggctaga
     1381 tggcttccgc cggcagcagc aggaggacag ggagcggctg cgagcgatgg agaagctgct
     1441 ggcctcggtg gaggagcggc aacggcacct cgcagggctg gcggtgggcc gcaggccccc
     1501 tcaggaatgc tgctctccag agctgggccg gcgactggca gagctggagc gcaggctgga
     1561 tgtcgtggcc ggctcagtga cagtgctgag tgggcggcga ggcacagagc tgggaggagc
     1621 cgcggggcag ggaggccacc ccccaggcta caccagcttg gcctcccgcc tgtctcgcct
     1681 ggaggaccgc ttcaactcca ccctgggccc ttcggaggag caggaggaga gctggcctgg
     1741 ggctcctggg gggctgagcc actggctgcc tgctgcccgg ggccgactag agcagttggg
     1801 ggggctgctg gccaatgtga gcggggagct gggggggcgg ttggatctgt tggaggagca
     1861 ggtggcaggg gccatgcagg catgcgggca gctctgctct ggggcccctg gggagcagga
     1921 ctctcaagtc agcgagatcc tcagtgcctt ggagcgcagg gtgctggaca gtgaggggca
     1981 gctgcggctg gtgggctccg gcctgcacac ggtggaagca gcgggggagg cccggcaggc
     2041 cacgctggag ggattacaag aggttgtggg ccggctccag gatcgtgtgg atgcccagga
     2101 tgagacagct gcagagttca cactacggct gaatctcact gcggcccggc taggccaact
     2161 ggaggggctg ctgcaggccc atggggatga gggctgtggg gcctgtggcg gagtccaaga
     2221 ggaactaggc cgccttcggg atggtgtgga gcgctgctcc tgccccctgt tgcctcctcg
     2281 gggtcctggg gctggtccag gtgttggggg cccaagccgt gggcccctgg acggcttcag
     2341 cgtgtttggg ggcagctcag gctcagccct gcaggccctg caaggagagc tctctgaggt
     2401 tattctcagc ttcagctccc tcaatgactc actgaatgag ctccagacca ctgtggaggg
     2461 ccagggcgct gatctggctg acctgggggc aaccaaggac cgtatcattt ctgagattaa
     2521 caggctgcag caggaggcca cagagcatgc tacagagagt gaagagcgct tccgaggcct
     2581 agaggaggga caagcacagg ccggccagtg ccccagctta gaggggcgat tgggccgtct
     2641 tgagggtgtc tgtgaacggt tggacactgt ggctggggga ctgcagggcc tgcgcgaggg
     2701 cctttccaga cacgtggctg ggctctgggc tgggctccgg gaaaccaaca ccaccagcca
     2761 gatgcaggca gccctgctgg agaagctggt cgggggacag gcgggcctgg gcaggcggct
     2821 gggtgccctt aacagctccc tgcagctcct ggaggaccgt ctgcaccagc tcagcctgaa
     2881 ggacctcact gggcctgcag gagaggctgg gcccccaggg cctcctgggc tgcagggacc
     2941 cccaggccct gctggacctc caggatcacc aggcaaggac gggcaagagg gccccatcgg
     3001 gccaccaggt cctcaaggtg aacagggagt ggagggggca ccagcagccc ctgtgcccca
     3061 agtggcattt tcagctgctc tgagtttgcc ccggtctgaa ccaggcacgg tccccttcga
     3121 cagagtcctg ctcaatgatg gaggctatta tgatccagag acaggcgtgt tcacagcgcc
     3181 actggctgga cgctacttgc tgagcgcggt gctgactggg caccggcacg agaaagtgga
     3241 ggccgtgctg tcccgctcca accagggcgt ggcccgcgta gactccggtg gctacgagcc
     3301 tgagggcctg gagaataagc cggtggccga gagccagccc agcccgggca ccctgggcgt
     3361 cttcagcctc atcctgccgc tgcaggccgg ggacacggtc tgcgtcgacc tggtcatggg
     3421 gcagctggcg cactcggagg agccgctcac catcttcagc ggggccctgc tctatgggga
     3481 cccagagctt gaacacgcgt agactggggt cccgcccgac gtgtctacgt cggctgaaga
     3541 gacagcgggg gcggcgggct cctggggtct cgcctgagac ggggcaccta gccctgggcg
     3601 agcgccgcac ccgggcccgc agcggcaccg cgcccagagc ggcctctccc cacgcccggg
     3661 gcgcgccggc tcagggaggc tcggggccgc ccatgcagac ttttggcctg gcgcgatccc
     3721 ccaagaaccc ctccagggcc ggcctgcgga ggagccgatc ctcgcaccct ccgctccctc
     3781 cactggccct ccaggtcgat tccctgggct ccaggctccc ccgcgcgggc gccgcccacc
     3841 gccatactaa acgatcgagg aataaagaca cttggttttt ctaaaaaaaa
//
