LOCUS       NM_003480               2872 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens microfibril associated protein 5 (MFAP5), transcript
            variant 1, mRNA.
ACCESSION   NM_003480
VERSION     NM_003480.4
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 2872)
  AUTHORS   Smetanina,M.A., Korolenya,V.A., Sipin,F.A., Oscorbin,I.P.,
            Sevostyanova,K.S., Gavrilov,K.A., Shevela,A.I. and Filipenko,M.L.
  TITLE     Loci cg06256735 and cg15815843 in the MFAP5 gene regulatory regions
            are hypomethylated in varicose veins apparently due to active
            demethylation
  JOURNAL   Biosci Rep 44 (5) (2024)
   PUBMED   38743016
  REMARK    GeneRIF: Loci cg06256735 and cg15815843 in the MFAP5 gene
            regulatory regions are hypomethylated in varicose veins apparently
            due to active demethylation.
REFERENCE   2  (bases 1 to 2872)
  AUTHORS   Chen,Z., Zhao,H., Meng,L., Yu,S., Liu,Z. and Xue,J.
  TITLE     Microfibril-Associated Glycoprotein-2 Promoted Fracture Healing via
            Integrin alphavbeta3/PTK2/AKT Signaling
  JOURNAL   Lab Invest 103 (7), 100121 (2023)
   PUBMED   36934797
  REMARK    GeneRIF: Microfibril-Associated Glycoprotein-2 Promoted Fracture
            Healing via Integrin alphavbeta3/PTK2/AKT Signaling.
REFERENCE   3  (bases 1 to 2872)
  AUTHORS   Duan,Y., Zhang,X., Ying,H., Xu,J., Yang,H., Sun,K., He,L., Li,M.,
            Ji,Y., Liang,T. and Bai,X.
  TITLE     Targeting MFAP5 in cancer-associated fibroblasts sensitizes
            pancreatic cancer to PD-L1-based immunochemotherapy via remodeling
            the matrix
  JOURNAL   Oncogene 42 (25), 2061-2073 (2023)
   PUBMED   37156839
  REMARK    GeneRIF: Targeting MFAP5 in cancer-associated fibroblasts
            sensitizes pancreatic cancer to PD-L1-based immunochemotherapy via
            remodeling the matrix.
REFERENCE   4  (bases 1 to 2872)
  AUTHORS   Wu,L., Zhou,F., Xin,W., Li,L., Liu,L., Yin,X., Xu,X., Wang,Y. and
            Hua,Z.
  TITLE     MAGP2 induces tumor progression by enhancing uPAR-mediated cell
            proliferation
  JOURNAL   Cell Signal 91, 110214 (2022)
   PUBMED   34915136
  REMARK    GeneRIF: MAGP2 induces tumor progression by enhancing uPAR-mediated
            cell proliferation.
REFERENCE   5  (bases 1 to 2872)
  AUTHORS   Imabayashi,H., Mori,T., Gojo,S., Kiyono,T., Sugiyama,T., Irie,R.,
            Isogai,T., Hata,J., Toyama,Y. and Umezawa,A.
  TITLE     Redifferentiation of dedifferentiated chondrocytes and
            chondrogenesis of human bone marrow stromal cells via chondrosphere
            formation with expression profiling by large-scale cDNA analysis
  JOURNAL   Exp Cell Res 288 (1), 35-50 (2003)
   PUBMED   12878157
REFERENCE   6  (bases 1 to 2872)
  AUTHORS   Penner,A.S., Rock,M.J., Kielty,C.M. and Shipley,J.M.
  TITLE     Microfibril-associated glycoprotein-2 interacts with fibrillin-1
            and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber
            assembly
  JOURNAL   J Biol Chem 277 (38), 35044-35049 (2002)
   PUBMED   12122015
REFERENCE   7  (bases 1 to 2872)
  AUTHORS   Gibson,M.A., Leavesley,D.I. and Ashman,L.K.
  TITLE     Microfibril-associated glycoprotein-2 specifically interacts with a
            range of bovine and human cell types via alphaVbeta3 integrin
  JOURNAL   J Biol Chem 274 (19), 13060-13065 (1999)
   PUBMED   10224057
REFERENCE   8  (bases 1 to 2872)
  AUTHORS   Hatzinikolas,G. and Gibson,M.A.
  TITLE     The exon structure of the human MAGP-2 gene. Similarity with the
            MAGP-1 gene is confined to two exons encoding a cysteine-rich
            region
  JOURNAL   J Biol Chem 273 (45), 29309-29314 (1998)
   PUBMED   9792630
REFERENCE   9  (bases 1 to 2872)
  AUTHORS   Gibson,M.A., Hatzinikolas,G., Kumaratilake,J.S., Sandberg,L.B.,
            Nicholl,J.K., Sutherland,G.R. and Cleary,E.G.
  TITLE     Further characterization of proteins associated with elastic fiber
            microfibrils including the molecular cloning of MAGP-2 (MP25)
  JOURNAL   J Biol Chem 271 (2), 1096-1103 (1996)
   PUBMED   8557636
  REMARK    Erratum:[J Biol Chem 1996 Mar 1;271(9):5288]
REFERENCE   10 (bases 1 to 2872)
  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, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB247952.1, U37283.1,
            AK124368.1, AL833019.1 and AI494006.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003480.3.
            
            Summary: This gene encodes a 25-kD microfibril-associated
            glycoprotein which is a component of microfibrils of the
            extracellular matrix. The encoded protein promotes attachment of
            cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of
            this gene in mice results in neutropenia. Alternate splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: AK315807.1, BG435242.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359478.7/ ENSP00000352455.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                DB247952.1         64-128
            66-927              U37283.1           50-911
            928-1924            AK124368.1         911-1907
            1925-2825           AL833019.1         636-1536
            2826-2872           AI494006.1         16-62               c
FEATURES             Location/Qualifiers
     source          1..2872
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..2872
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /note="microfibril associated protein 5"
                     /db_xref="GeneID:8076"
                     /db_xref="HGNC:HGNC:29673"
                     /db_xref="MIM:601103"
     exon            1..200
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /inference="alignment:Splign:2.1.0"
     exon            201..260
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /inference="alignment:Splign:2.1.0"
     CDS             203..724
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; microfibril-associated glycoprotein-2;
                     THE1A-MFAP5; microfibrillar associated protein 5"
                     /codon_start=1
                     /product="microfibrillar-associated protein 5 isoform a
                     precursor"
                     /protein_id="NP_003471.1"
                     /db_xref="CCDS:CCDS8595.1"
                     /db_xref="GeneID:8076"
                     /db_xref="HGNC:HGNC:29673"
                     /db_xref="MIM:601103"
                     /translation="MSLLGPKVLLFLAAFIITSDWIPLGVNSQRGDDVTQATPETFTE
                     DPNLVNDPATDETVLAVLADIAPSTDDLASLSEKNTTAECWDEKFTCTRLYSVHRPVK
                     QCIHQLCFTSLRRMYIVNKEICSRLVCKEHEAMKDELCRQMAGLPPRRLRRSNYFRLP
                     PCENVDLQRPNGL"
     exon            261..296
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /inference="alignment:Splign:2.1.0"
     exon            297..341
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /inference="alignment:Splign:2.1.0"
     exon            342..374
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /inference="alignment:Splign:2.1.0"
     exon            375..419
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /inference="alignment:Splign:2.1.0"
     exon            420..449
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /inference="alignment:Splign:2.1.0"
     exon            450..537
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /inference="alignment:Splign:2.1.0"
     exon            538..611
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /inference="alignment:Splign:2.1.0"
     exon            612..2872
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /inference="alignment:Splign:2.1.0"
     regulatory      916..921
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /note="hexamer: AATACA"
     polyA_site      941
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /note="major polyA site"
     regulatory      1031..1036
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /note="hexamer: ACTAAA"
     polyA_site      1056
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
     polyA_site      1557
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
     regulatory      2808..2813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /note="hexamer: ATTAAA"
     polyA_site      2836
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
     regulatory      2849..2854
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
                     /note="hexamer: AATAAA"
     polyA_site      2872
                     /gene="MFAP5"
                     /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25"
ORIGIN      
        1 attgtaacac acattctacg cctagcctgg ctttcttgct ctccctcatc tcattgtttc
       61 agcggaggcc aaatctgaag tcctttccag ggagtggctc tgttcatctt attcgccagc
      121 caaagtagga acagcgtaag aggagagaga cacattcagc agccaaagga ctcggtggaa
      181 agagcagaac accatagaca atatgtcgct cttgggaccc aaggtgctgc tgtttcttgc
      241 tgcattcatc atcacctctg actggatacc cctgggggtc aatagtcaac gaggagacga
      301 tgtgactcaa gcgactccag aaacattcac agaagatcct aatctggtga atgatcccgc
      361 tacagatgaa acagttttgg ctgttttggc tgatattgca ccttccacag atgacttggc
      421 ctccctcagt gaaaaaaata ccactgcaga gtgctgggat gagaaattta cctgcacaag
      481 gctctactct gtgcatcggc cggttaaaca atgcattcat cagttatgct tcaccagttt
      541 acgacgtatg tacatcgtca acaaggagat ctgctctcgt cttgtctgta aggaacacga
      601 agctatgaaa gatgagcttt gccgtcagat ggctggtctg ccccctagga gactccgtcg
      661 ctccaattac ttccgacttc ctccctgtga aaatgtggat ttgcagagac ccaatggtct
      721 gtgatcattg aaaaagagga aagaagaaaa aatgtatggg tgagaggaag gaggatctcc
      781 ttcttctcca accattgaca gctaaccctt agacagtatt tcttaaacca atccttttgc
      841 aatgtccagc ttttacccct actctctact ttttcaccca aactgataac atttatctca
      901 ttttctagca cttaaaatac aaagtctata ttattgcata attttgctgc ttctcaatat
      961 catagacaca gtgaatagat gatgactata tggcttatat acaaacattc tatgtacaat
     1021 ttcaagggag actaaacttt aggctaataa tctttactat tgaatctgtc tgatatagat
     1081 cttagggttg aagaagctat ctttgtctat ttgggctaac catagaattt catttatttt
     1141 cctcacaata ttttcctaga ccaactcccc atcattcacg tgttcctctt tactcttact
     1201 ttaactattt tgctggcttg cccgaaaatt tgcctggcaa gtcttcctta taagacacat
     1261 catggtaagt tttgtagtcc tgtaagattc tgcaacacag tcaagaatta tacaatccta
     1321 ctagcaatat ataaggaccc aaaatgtctt ctgctaagct cagaggctgg ggctaaagca
     1381 tgaggactat gccagctata gaacttggac tcataattcg ctatccaatt tttcatgcag
     1441 ttgtctagtc gggaagtaag gttggaaact aagtctcatt tactgattcg tttatgggta
     1501 gtaccgggat gaacccacca ccacaaagca aattagacaa cttaatgtga aatcatacca
     1561 ttggttgacg tttccttgag ttgctacttc gttcatcttc acaacttaac aagtgcacgg
     1621 tcgaattatt gtgcaagtgg cttttggata tcctgattgg ggcctaagaa gggcattcag
     1681 acttgaattt taataggcag acagaaagtt tgcctaatag ttaatacgaa agagtgaaag
     1741 aaacacaata ttcagacaac ccacattctt atcctggctc tagcagtaac cacgtagcct
     1801 tggataagcc attttccttc attaggtcct ggtttaattt cctcatcttt aaaatgagaa
     1861 ggttaaattt atcttagtac tgctgggcgc agtggctcat gcctgtaatc tgagcacttt
     1921 gggaagctga ggcgggtgga tcacttgagg tcagaaattt gagacgagcc tggccaacat
     1981 ggtgaaaccc catctctact aaaaatacaa aaattagctg ggcgtggtgg cacgtgcctg
     2041 taatcccagc tactcgggag gctgaggcag gagaatcaat tgaacctggg aggcagaggt
     2101 tgcagtgagc cgagatggcg ccattgcact ccagcctggg tgacaaaagc aaaagtccat
     2161 cttaagaaat atatatatat attatatata ttcttagttc taagatttcc tttaattcta
     2221 tgattctctg gatttaaatg cattattcat atttcttgaa gcttagatac agtctaattc
     2281 atagcaacca tatctgcttt atcctaggtg agggtagcag tccacaatgg aatagaagaa
     2341 aatcccatta taacaaatga caaattatat atcatgaatc cttctgtctg actaactcaa
     2401 taactttcta taaaagccaa tggaattcaa ataggagcta ggagacaaca agttatatat
     2461 gacagtggag gttgtattcc ttttatattg ctgagaaaac tagttaaatg atcagattct
     2521 tgctgttaag aaacaatttc gtttaatggg atctgtacaa ctgattttaa aaaaatgcta
     2581 caaaaagccc caaagcatat aatctctact ccttacagtc tctagaatta aatgtactca
     2641 tttagacaac atattaaatg catattttag ccactttaga gaaacctcat aggcacagag
     2701 tttccaagat taattttaag aatatcttca cgaacttgac cctcctactc cacattgcaa
     2761 catttccatc agacagcatt tcaattccag tattatgtat attgcaaatt aaacatttta
     2821 aaatattttt ttccaattta tttctcaaaa taaaatgtct tttgttctgg tt
//
