LOCUS       NM_001410735            4393 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens multimerin 1 (MMRN1), transcript variant 3, mRNA.
ACCESSION   NM_001410735 XM_047449832
VERSION     NM_001410735.1
KEYWORDS    RefSeq.
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 4393)
  AUTHORS   Houlahan,C.B., Kong,Y., Johnston,B., Cielesh,M., Chau,T.H.,
            Fenwick,J., Coleman,P.R., Hao,H., Haltiwanger,R.S.,
            Thaysen-Andersen,M., Passam,F.H. and Larance,M.
  TITLE     Analysis of the Healthy Platelet Proteome Identifies a New Form of
            Domain-Specific O-Fucosylation
  JOURNAL   Mol Cell Proteomics 23 (2), 100717 (2024)
   PUBMED   38237698
REFERENCE   2  (bases 1 to 4393)
  AUTHORS   Saini,A., Kumar,V., Tomar,A.K., Sharma,A. and Yadav,S.
  TITLE     Multimerin 1 aids in the progression of ovarian cancer possibly via
            modulation of DNA damage response and repair pathways
  JOURNAL   Mol Cell Biochem 478 (10), 2395-2403 (2023)
   PUBMED   36723821
  REMARK    GeneRIF: Multimerin 1 aids in the progression of ovarian cancer
            possibly via modulation of DNA damage response and repair pathways.
REFERENCE   3  (bases 1 to 4393)
  AUTHORS   Saini,A., Chandra,K.B., Kumar,V., Mathur,S.R., Sharma,J.B.,
            Kumar,S. and Yadav,S.
  TITLE     Analysis of Multimerin 1 (MMRN1) expression in ovarian cancer
  JOURNAL   Mol Biol Rep 47 (12), 9459-9468 (2020)
   PUBMED   33263168
  REMARK    GeneRIF: Analysis of Multimerin 1 (MMRN1) expression in ovarian
            cancer.
REFERENCE   4  (bases 1 to 4393)
  AUTHORS   Wang,Y., Anderson,E.P. and Tatakis,D.N.
  TITLE     Whole transcriptome analysis of smoker palatal mucosa identifies
            multiple downregulated innate immunity genes
  JOURNAL   J Periodontol 91 (6), 756-766 (2020)
   PUBMED   31682009
  REMARK    GeneRIF: MMRN1 expression in healthy human palatal mucosa is
            strongly negatively correlated with serum cotinine levels.
REFERENCE   5  (bases 1 to 4393)
  AUTHORS   Naba,A., Pearce,O.M.T., Del Rosario,A., Ma,D., Ding,H., Rajeeve,V.,
            Cutillas,P.R., Balkwill,F.R. and Hynes,R.O.
  TITLE     Characterization of the Extracellular Matrix of Normal and Diseased
            Tissues Using Proteomics
  JOURNAL   J Proteome Res 16 (8), 3083-3091 (2017)
   PUBMED   28675934
REFERENCE   6  (bases 1 to 4393)
  AUTHORS   Hayward,C.P.
  TITLE     Multimerin: a bench-to-bedside chronology of a unique platelet and
            endothelial cell protein--from discovery to function to
            abnormalities in disease
  JOURNAL   Clin Invest Med 20 (3), 176-187 (1997)
   PUBMED   9189649
  REMARK    Review article
REFERENCE   7  (bases 1 to 4393)
  AUTHORS   Hayward,C.P., Rivard,G.E., Kane,W.H., Drouin,J., Zheng,S.,
            Moore,J.C. and Kelton,J.G.
  TITLE     An autosomal dominant, qualitative platelet disorder associated
            with multimerin deficiency, abnormalities in platelet factor V,
            thrombospondin, von Willebrand factor, and fibrinogen and an
            epinephrine aggregation defect
  JOURNAL   Blood 87 (12), 4967-4978 (1996)
   PUBMED   8652809
REFERENCE   8  (bases 1 to 4393)
  AUTHORS   Hayward,C.P., Furmaniak-Kazmierczak,E., Cieutat,A.M., Moore,J.C.,
            Bainton,D.F., Nesheim,M.E., Kelton,J.G. and Cote,G.
  TITLE     Factor V is complexed with multimerin in resting platelet lysates
            and colocalizes with multimerin in platelet alpha-granules
  JOURNAL   J Biol Chem 270 (33), 19217-19224 (1995)
   PUBMED   7642592
REFERENCE   9  (bases 1 to 4393)
  AUTHORS   Hayward,C.P., Hassell,J.A., Denomme,G.A., Rachubinski,R.A.,
            Brown,C. and Kelton,J.G.
  TITLE     The cDNA sequence of human endothelial cell multimerin. A unique
            protein with RGDS, coiled-coil, and epidermal growth factor-like
            domains and a carboxyl terminus similar to the globular domain of
            complement C1q and collagens type VIII and X
  JOURNAL   J Biol Chem 270 (31), 18246-18251 (1995)
   PUBMED   7629143
REFERENCE   10 (bases 1 to 4393)
  AUTHORS   Hayward,C.P., Bainton,D.F., Smith,J.W., Horsewood,P., Stead,R.H.,
            Podor,T.J., Warkentin,T.E. and Kelton,J.G.
  TITLE     Multimerin is found in the alpha-granules of resting platelets and
            is synthesized by a megakaryocytic cell line
  JOURNAL   J Clin Invest 91 (6), 2630-2639 (1993)
   PUBMED   8514871
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093759.3.
            
            On Aug 15, 2022 this sequence version replaced XM_047449832.1.
            
            Summary:  Multimerin is a massive, soluble protein found in
            platelets and in the endothelium of blood vessels.  It is comprised
            of subunits linked by interchain disulfide bonds to form large,
            variably sized homomultimers.  Multimerin is a factor V/Va-binding
            protein and may function as a carrier protein for platelet factor
            V.  It may also have functions as an extracellular matrix or
            adhesive protein.  Recently, patients with an unusual
            autosomal-dominant bleeding disorder (factor V Quebec) were found
            to have a deficiency of platelet multimerin. [provided by RefSeq,
            Jul 2008].
            
            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 :: AK302421.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-133               AC093759.3         102579-102711
            134-253             AC093759.3         109872-109991
            254-360             AC093759.3         112540-112646
            361-465             AC093759.3         123764-123868
            466-639             AC093759.3         128391-128564
            640-2628            AC093759.3         135406-137394
            2629-2775           AC093759.3         152201-152347
            2776-4393           AC093759.3         153593-155210
FEATURES             Location/Qualifiers
     source          1..4393
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     gene            1..4393
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /note="multimerin 1"
                     /db_xref="GeneID:22915"
                     /db_xref="HGNC:HGNC:7178"
                     /db_xref="MIM:601456"
     exon            1..133
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            134..253
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            254..360
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     CDS             285..3197
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /note="isoform 2 is encoded by transcript variant 3;
                     glycoprotein Ia*; endothelial cell multimerin; elastin
                     microfibril interfacer 4; elastin microfibril interface
                     located protein 4"
                     /codon_start=1
                     /product="multimerin-1 isoform 2"
                     /protein_id="NP_001397664.1"
                     /db_xref="CCDS:CCDS93560.1"
                     /db_xref="GeneID:22915"
                     /db_xref="HGNC:HGNC:7178"
                     /db_xref="MIM:601456"
                     /translation="MQHKIVTSLDWRCCPGYSGPKCQLRAQEQQSLIHTNQAESHTAV
                     GRGVAEQQQQQGCGDPEVMQKMTDQVNYQAMKLTLLQKKIDNISLTVNDVRNTYSSLE
                     GKVSEDKSREFQSLLKGLKSKSINVLIRDIVREQFKIFQNDMQETVAQLFKTVSSLSE
                     DLESTRQIIQKVNESVVSIAAQQKFVLVQENRPTLTDIVELRNHIVNVRQEMTLTCEK
                     PIKELEVKQTHLEGALEQEHSRSILYYESLNKTLSKLKEVHEQLLSTEQVSDQKNAPA
                     AESVSNNVTEYMSTLHENIKKQSLMMLQMFEDLHIQESKINNLTVSLEMEKESLRGEC
                     EDMLSKCRNDFKFQLKDTEENLHVLNQTLAEVLFPMDNKMDKMSEQLNDLTYDMEILQ
                     PLLEQGASLRQTMTYEQPKEAIVIRKKIENLTSAVNSLNFIIKELTKRHNLLRNEVQG
                     RDDALERRINEYALEMEDGLNKTMTIINNAIDFIQDNYALKETLSTIKDNSEIHHKCT
                     SDMETILTFIPQFHRLNDSIQTLVNDNQRYNFVLQVAKTLAGIPRDEKLNQSNFQKMY
                     QMFNETTSQVRKYQQNMSHLEEKLLLTTKISKNFETRLQDIESKVTQTLIPYYISVKK
                     GSVVTNERDQALQLQVLNSRFKALEAKSIHLSINFFSLNKTLHEVLTMCHNASTSVSE
                     LNATIPKWIKHSLPDIQLLQKGLTEFVEPIIQIKTQAALSNLTCCIDRSLPGSLANVV
                     KSQKQVKSLPKKINALKKPTVNLTTVLIGRTQRNTDNIIYPEEYSSCSRHPCQNGGTC
                     INGRTSFTCACRHPFTGDNCTIKLVEENALAPDFSKGSYRYAPMVAFFASHTYGMTIP
                     GPILFNNLDVNYGASYTPRTGKFRIPYLGVYVFKYTIESFSAHISGFLVVDGIDKLAF
                     ESENINSEIHCDRVLTGDALLELNYGQEVWLRLAKGTIPAKFPPVTTFSGYLLYRT"
     exon            361..465
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            466..639
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            640..2628
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            2629..2775
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            2776..4393
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3618..3623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /note="hexamer: AATAAA"
     polyA_site      3641
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
     regulatory      4373..4378
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /note="hexamer: AATAAA"
     polyA_site      4393
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /note="major polyA site"
ORIGIN      
        1 atccgttagc ctgcctttgt ggtctgcacg ctgggaaagc ctgacaccta ctggaataga
       61 aacagtttac aacgcccgga atatgctcaa gtcacagttt tgcaaggaag ggggaaacaa
      121 aaaataaaat taggaattgg tgtgcttatg tacataccag gttatctccc acagtgatat
      181 tggacaacca ggtcacttat gtcccaggtg ggaaaggacc ttgtggctgg accggtggat
      241 cctgtcctca gagatctcag aagatatcca atcctgtcta taggatgcaa cataaaattg
      301 tcacctcatt ggattggagg tgctgtcctg gatacagtgg gccgaaatgt caactaagag
      361 cccaggaaca gcaaagtttg atacacacca accaggctga aagtcataca gctgttggca
      421 gaggagtagc tgagcagcag cagcagcaag gctgtggtga cccagaagtg atgcaaaaaa
      481 tgactgatca ggtgaactac caggcaatga aactgactct tctgcagaag aagattgaca
      541 atatttcttt gactgtgaat gatgtaagga acacttactc ctccctagaa ggaaaagtca
      601 gcgaagataa aagcagagaa tttcaatctc ttctaaaagg tctaaaatcc aaaagcatta
      661 atgtactgat aagagacata gtaagagaac aatttaaaat ttttcaaaat gacatgcaag
      721 agactgtagc acagctcttc aagactgtat caagtctatc agaggacctc gaaagcacca
      781 ggcaaataat tcaaaaagtt aatgaatctg tggtttcaat agcagcccag caaaagtttg
      841 ttttggtgca agagaatcgg cccactttga ctgatatagt ggaactaagg aatcacattg
      901 tgaatgtaag gcaagaaatg actcttacat gtgagaagcc tattaaagaa ctagaagtaa
      961 agcagactca tttagaaggt gctctagaac aggaacactc aagaagcatt ctgtattatg
     1021 aatccctcaa taaaactctt tctaaattga aggaagtaca tgagcagctt ttatcaactg
     1081 aacaggtatc agaccagaag aatgctccag ctgctgagtc agttagcaat aatgtcactg
     1141 agtacatgtc tactttacat gaaaatataa agaagcagag tttgatgatg ctgcaaatgt
     1201 ttgaagattt gcacattcaa gaaagcaaga ttaacaatct caccgtctct ttggagatgg
     1261 agaaagagtc tctcagaggt gaatgtgaag acatgttatc caaatgcaga aatgatttta
     1321 aatttcaact taaggacaca gaagagaatt tacatgtgtt aaatcaaaca ttggctgaag
     1381 ttctctttcc aatggacaat aagatggaca aaatgagtga gcaactaaat gatttgactt
     1441 atgatatgga gatccttcaa cccttgcttg agcagggagc atcactcaga cagacaatga
     1501 catatgaaca accaaaggaa gcaatagtga taaggaaaaa gatagaaaat ctgactagtg
     1561 ctgtcaatag tctaaatttt attatcaaag aacttacaaa aagacacaac ttacttagaa
     1621 atgaagtaca gggtcgtgat gatgccttag aaagacgtat caatgaatat gccttagaaa
     1681 tggaagatgg cctcaataag acaatgacta ttataaataa tgctattgat ttcattcaag
     1741 ataactatgc cctaaaagag actttaagta ctattaagga taatagtgag atccatcata
     1801 aatgtacctc cgatatggaa actattttga catttattcc tcagttccac cgtctgaatg
     1861 attctattca gactttggtc aatgacaatc agagatataa ctttgttttg caagtcgcca
     1921 agacccttgc aggtattccc agagatgaga aactaaatca gtccaacttc caaaagatgt
     1981 atcaaatgtt caatgaaacc acttcccaag tgagaaaata ccagcaaaat atgagtcatt
     2041 tggaagaaaa actactctta actaccaaga tttccaaaaa ttttgagact cggttgcaag
     2101 acattgagtc taaagttacc cagacgctca taccttatta tatttcagtt aaaaaaggca
     2161 gtgtagttac aaatgagaga gatcaggctc ttcaactgca agtattaaat tccagattta
     2221 aggcgttgga agcaaaatct atccatcttt caattaactt cttttcgctt aacaaaactc
     2281 tccacgaagt tttaacaatg tgtcacaatg cttctacaag tgtgtcagaa ctgaatgcta
     2341 ccatccctaa gtggataaaa cattccctgc cagatattca acttcttcag aaaggtctaa
     2401 cagaatttgt ggaaccaata attcaaataa aaactcaagc tgccctatct aatttaactt
     2461 gttgtataga tcgatcgttg cctggtagtc tggcaaatgt tgtcaagtct cagaagcaag
     2521 taaaatcatt gccaaagaaa attaacgcac ttaagaaacc aacggtaaat cttaccacag
     2581 tcctgatagg ccggactcaa agaaacacgg acaacataat atatcctgag gagtattcaa
     2641 gctgtagtcg gcatccgtgc caaaatgggg gcacgtgcat aaatggaaga actagcttta
     2701 cctgtgcctg cagacatcct tttactggtg acaactgcac tatcaagctt gtggaagaaa
     2761 atgctttagc tccagatttt tccaaaggat cttacagata tgcacccatg gtggcatttt
     2821 ttgcatctca tacgtatgga atgactatac ctggtcctat cctgtttaat aacttggatg
     2881 tcaattatgg agcttcatat accccaagaa ctggaaaatt tagaattccg tatcttggag
     2941 tatatgtttt caagtacacc atcgagtcat ttagtgctca tatttctgga tttttagtgg
     3001 ttgatggaat agacaagctt gcatttgagt ctgaaaatat taacagtgaa atacactgtg
     3061 atagggtttt aactggggat gccttattag aattaaatta tgggcaggaa gtctggttac
     3121 gacttgcaaa aggaacaatt ccagccaagt ttccccctgt tactacattt agtggctatt
     3181 tattatatcg tacataagtt agtatgaaaa acagactatc acctttattg agaaacagcc
     3241 agtgttttca tttatctttg cttgcacatc tgctctgttt tggtttttct acaggaaatg
     3301 aaaatcaact tgttttttta atatgagtaa acttgtatgt ctattttata aaattatttg
     3361 aatattgttt aatgtctgaa tatgaaagag ttcttgatcc taaagaaatt tagtggcaca
     3421 gaaaacaaag tgaatttgtt agcataatta ttcctattct tatttcttca ttttaagtca
     3481 ttgcaatgga aagtaatatt ataaaatggt aattacaaca tattatcagt cacagttttc
     3541 tttccaatta aacacttaac ttttgttatt ccctgtatat aaatatataa cacacatttt
     3601 ctagattcac aaatttaaat aaattactca aaaaatgaaa attgattttg taaactttta
     3661 tttttactct ttacgttgag ttgatcaatt ttccatacta agattttcat tcagaatcaa
     3721 aattaagaaa gttggactga aaatatgaaa aatgcttaac tattgttctc ttcctataat
     3781 tctctaatta taacatagta atttacatgt agttggacat gtacactcaa gtctaagaat
     3841 atatgagtgg atcatttacc gccccccgcc ccacaacatc tataaggggc aaaaagtctt
     3901 tttctaataa gtattcttct atggtagtac ctacagatct gcccttcttc ttctaaaggg
     3961 taagtcataa tctgtgtaat actacaattt atgggatgct cactatgccc tgtttctctt
     4021 ctaaacaatt tacatgtaat gtctcattcc tcacaataac ccttgtaaag tgggcatgat
     4081 taccatgatt tttatagttg aagaacctaa gacacagaga ccaaggccca tgagctcata
     4141 gggctgaggc aggatttgga atcaggccat gtcttctcca gagcccacat ccatcctttc
     4201 tctatattgc ctcccacaga tgtgctaaaa tttatttaac taatccttta tcctctattt
     4261 gtgttgtctc ccatttttta ttattacaat attactgtgg tgaacatgct taaaaataca
     4321 ttccttggat atctgacaac gtgtttctga aaaacagatt ttcataagta ataataaaaa
     4381 taataataaa aaa
//
