LOCUS       NM_002404               1820 bp    mRNA    linear   PRI 15-JUL-2024
DEFINITION  Homo sapiens microfibril associated protein 4 (MFAP4), transcript
            variant 2, mRNA.
ACCESSION   NM_002404
VERSION     NM_002404.3
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 1820)
  AUTHORS   Wozny,M.R., Nelea,V., Siddiqui,I.F.S., Wanga,S., de Waard,V.,
            Strauss,M. and Reinhardt,D.P.
  TITLE     Microfibril-associated glycoprotein 4 forms octamers that mediate
            interactions with elastogenic proteins and cells
  JOURNAL   Nat Commun 15 (1), 4015 (2024)
   PUBMED   38740766
  REMARK    GeneRIF: Microfibril-associated glycoprotein 4 forms octamers that
            mediate interactions with elastogenic proteins and cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1820)
  AUTHORS   Nishida,H., Sasaki,T., Taga,Y., Murasawa,Y., Simizu,S.,
            Matsushita,S., Isogai,Z., Hattori,S., Daa,T., Nagamine,N.,
            Sekine,A. and Fujiwara,S.
  TITLE     Presence of microfibril associated glycoprotein 4 and type V
            collagen and the possible absence of fibrillin-1 in bead-like
            structures in elastofibroma
  JOURNAL   J Dermatol Sci 112 (2), 112-116 (2023)
   PUBMED   37880056
  REMARK    GeneRIF: Presence of microfibril associated glycoprotein 4 and type
            V collagen and the possible absence of fibrillin-1 in bead-like
            structures in elastofibroma.
REFERENCE   3  (bases 1 to 1820)
  AUTHORS   Li,J., Wang,J., Liu,Z., Guo,H., Wei,X., Wei,Q., Zheng,S. and Xu,X.
  TITLE     Tumor-suppressive role of microfibrillar associated protein 4 and
            its clinical significance as prognostic factor and diagnostic
            biomarker in hepatocellular carcinoma
  JOURNAL   J Cancer Res Ther 18 (7), 1919-1925 (2022)
   PUBMED   36647950
  REMARK    GeneRIF: Tumor-suppressive role of microfibrillar associated
            protein 4 and its clinical significance as prognostic factor and
            diagnostic biomarker in hepatocellular carcinoma.
REFERENCE   4  (bases 1 to 1820)
  AUTHORS   Kanaan,R., Medlej-Hashim,M., Jounblat,R., Pilecki,B. and
            Sorensen,G.L.
  TITLE     Microfibrillar-associated protein 4 in health and disease
  JOURNAL   Matrix Biol 111, 1-25 (2022)
   PUBMED   35644509
  REMARK    GeneRIF: Microfibrillar-associated protein 4 in health and disease.
            Review article
REFERENCE   5  (bases 1 to 1820)
  AUTHORS   Han,Y., Xia,K. and Su,T.
  TITLE     Exploration of the Important Role of Microfibril-Associated Protein
            4 Gene in Oral Squamous Cell Carcinoma
  JOURNAL   Med Sci Monit 27, e931238 (2021)
   PUBMED   34210950
  REMARK    GeneRIF: Exploration of the Important Role of
            Microfibril-Associated Protein 4 Gene in Oral Squamous Cell
            Carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1820)
  AUTHORS   Liu,T., Qian,W.J., Gritsenko,M.A., Camp,D.G. 2nd, Monroe,M.E.,
            Moore,R.J. and Smith,R.D.
  TITLE     Human plasma N-glycoproteome analysis by immunoaffinity
            subtraction, hydrazide chemistry, and mass spectrometry
  JOURNAL   J Proteome Res 4 (6), 2070-2080 (2005)
   PUBMED   16335952
REFERENCE   7  (bases 1 to 1820)
  AUTHORS   Zhang,Z. and Henzel,W.J.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   8  (bases 1 to 1820)
  AUTHORS   Lausen,M., Lynch,N., Schlosser,A., Tornoe,I., Saekmose,S.G.,
            Teisner,B., Willis,A.C., Crouch,E., Schwaeble,W. and Holmskov,U.
  TITLE     Microfibril-associated protein 4 is present in lung washings and
            binds to the collagen region of lung surfactant protein D
  JOURNAL   J Biol Chem 274 (45), 32234-32240 (1999)
   PUBMED   10542261
REFERENCE   9  (bases 1 to 1820)
  AUTHORS   Toyoshima,T., Yamashita,K., Furuichi,H., Shishibori,T., Itano,T.
            and Kobayashi,R.
  TITLE     Ultrastructural distribution of 36-kD microfibril-associated
            glycoprotein (MAGP-36) in human and bovine tissues
  JOURNAL   J Histochem Cytochem 47 (8), 1049-1056 (1999)
   PUBMED   10424889
REFERENCE   10 (bases 1 to 1820)
  AUTHORS   Zhao,Z., Lee,C.C., Jiralerspong,S., Juyal,R.C., Lu,F., Baldini,A.,
            Greenberg,F., Caskey,C.T. and Patel,P.I.
  TITLE     The gene for a human microfibril-associated glycoprotein is
            commonly deleted in Smith-Magenis syndrome patients
  JOURNAL   Hum Mol Genet 4 (4), 589-597 (1995)
   PUBMED   7633408
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK293056.1, AC124066.6 and
            BQ017631.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_002404.2.
            
            Summary: This gene encodes a protein with similarity to a bovine
            microfibril-associated protein. The protein has binding
            specificities for both collagen and carbohydrate. It is thought to
            be an extracellular matrix protein which is involved in cell
            adhesion or intercellular interactions. The gene is located within
            the Smith-Magenis syndrome region. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct N-terminus compared to isoform 1.
            
            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 :: SRR1803612.1429.1,
                                           SRR1803617.73694.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299610.5/ ENSP00000299610.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1101              AK293056.1         1-1101
            1102-1102           AC124066.6         12618-12618
            1103-1257           AK293056.1         1103-1257
            1258-1820           BQ017631.1         21-583              c
FEATURES             Location/Qualifiers
     source          1..1820
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..1820
                     /gene="MFAP4"
                     /note="microfibril associated protein 4"
                     /db_xref="GeneID:4239"
                     /db_xref="HGNC:HGNC:7035"
                     /db_xref="MIM:600596"
     exon            1..41
                     /gene="MFAP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..803
                     /gene="MFAP4"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; microfibrillar associated protein 4"
                     /codon_start=1
                     /product="microfibril-associated glycoprotein 4 isoform 2
                     precursor"
                     /protein_id="NP_002395.1"
                     /db_xref="CCDS:CCDS11208.1"
                     /db_xref="GeneID:4239"
                     /db_xref="HGNC:HGNC:7035"
                     /db_xref="MIM:600596"
                     /translation="MKALLALPLLLLLSTPPCAPQVSGIRGDALERFCLQQPLDCDDI
                     YAQGYQSDGVYLIYPSGPSVPVPVFCDMTTEGGKWTVFQKRFNGSVSFFRGWNDYKLG
                     FGRADGEYWLGLQNMHLLTLKQKYELRVDLEDFENNTAYAKYADFSISPNAVSAEEDG
                     YTLFVAGFEDGGAGDSLSYHSGQKFSTFDRDQDLFVQNCAALSSGAFWFRSCHFANLN
                     GFYLGGSHLSYANGINWAQWKGFYYSLKRTEMKIRRA"
     exon            42..120
                     /gene="MFAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            121..275
                     /gene="MFAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            276..372
                     /gene="MFAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            373..555
                     /gene="MFAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            556..1820
                     /gene="MFAP4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1799..1804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFAP4"
                     /note="hexamer: AATAAA"
     polyA_site      1820
                     /gene="MFAP4"
                     /note="major polyA site"
ORIGIN      
        1 gcagacaccc agccactctg agcagaactg acagcatgaa ggcactcctg gccctgccgc
       61 tgctgctgct tctctccacg cccccgtgtg ccccccaggt ctccgggatc cgaggagatg
      121 ctctggagag gttttgcctt cagcaacccc tggactgtga cgacatctat gcccagggct
      181 accagtcaga cggcgtgtac ctcatctacc cctcgggccc cagtgtgcct gtgcccgtct
      241 tctgtgacat gaccaccgag ggcgggaagt ggacggtttt ccagaagaga ttcaatggct
      301 cagtaagttt cttccgcggc tggaatgact acaagctggg cttcggccgt gctgatggag
      361 agtactggct ggggctgcag aacatgcacc tcctgacact gaagcagaag tatgagctgc
      421 gagtggactt ggaggacttt gagaacaaca cggcctatgc caagtacgct gacttctcca
      481 tctccccgaa cgcggtcagc gcagaggagg atggctacac cctctttgtg gcaggctttg
      541 aggatggcgg ggcaggtgac tccctgtcct accacagtgg ccagaagttc tctaccttcg
      601 accgggacca ggacctcttt gtgcagaact gcgcagctct ctcctcagga gccttctggt
      661 tccgcagctg ccactttgcc aacctcaatg gcttctacct aggtggctcc cacctctctt
      721 atgccaatgg catcaactgg gcccagtgga agggcttcta ctactccctc aaacgcactg
      781 agatgaaaat ccgccgggcc tgaagggctg gccccctcag gcacctttcc tcccctggac
      841 acccatggtc tccatgagtg ctccctctgc tgcccctgat gcatgcttct gctgattccc
      901 gagcaccaac tccttacaag ggggccttgt ggctctcagc catgccacat ccctgtcaca
      961 cacccagggc atccattcct aagccagacc cggctcccct acacctgaag ttacactgcc
     1021 agcagttccc caggcctctt ccgagaggca catggttcta gcctggacct ggctgggctc
     1081 catgagaatg agttgcctcc aacctgtccc aacagctgac agccaggagc cactctccca
     1141 gctgcaggcc tttgtggtcc atcttgtcct gcttcctcac tgtggacccc tgtctgggcc
     1201 accctagtgt gctaagctga gcagtgcagt gtgaacaggg cccatggtgt attctaggcc
     1261 acagcccagc actcctctgg gctgctctca aaccatgtcc catcttcagc atccctccca
     1321 ccaacttact cccctgtggt gagtaccgtg gaaccccagc ccacctcact atcatactca
     1381 gcttcccctg atggcccatc ccagcccctg aagctctatg ccaagaacac agctaccgca
     1441 caccaccctg aaacagccac agccaaggta ggcatgcata tgaggtcttc cccataccct
     1501 ctgggtgttg agaggtttag ccacatgagg gagcagagga caatctctgc agggctggga
     1561 gtgggtaggg actgaaggtc tcaataaacc ttcagaacct gaatgaactg gcttcataca
     1621 cacaaacata tttgtttatc ccccaaatgt aggcacctgg ctcctccttg ctcccctgct
     1681 gatggtgtcc taccccgaac tccaaaaatt acacctggag tcaggtgcag aagggaacct
     1741 tgtatttcac aggcctcatt ttgatggcaa aaagacagtg taataataac ataataataa
     1801 taaaaatata atactgaaaa
//
