LOCUS       NM_007351               5001 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens multimerin 1 (MMRN1), transcript variant 2, mRNA.
ACCESSION   NM_007351
VERSION     NM_007351.3
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 5001)
  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 5001)
  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 5001)
  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 5001)
  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 5001)
  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 5001)
  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 5001)
  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 5001)
  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 5001)
  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 5001)
  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, BC063848.1,
            U27109.1, AK125557.1 and BM126740.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_007351.2.
            
            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 :: SRR1803616.179522.1, BC063848.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264790.7/ ENSP00000264790.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                AC093759.3         95450-95496
            48-3008             BC063848.1         1-2961
            3009-3062           U27109.1           2962-3015
            3063-4114           BC063848.1         3016-4067
            4115-4995           AK125557.1         2026-2906
            4996-5001           BM126740.1         20-25               c
FEATURES             Location/Qualifiers
     source          1..5001
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     gene            1..5001
                     /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..741
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..3805
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2; glycoprotein Ia*; endothelial cell multimerin;
                     elastin microfibril interfacer 4; elastin microfibril
                     interface located protein 4"
                     /codon_start=1
                     /product="multimerin-1 isoform 1 precursor"
                     /protein_id="NP_031377.2"
                     /db_xref="CCDS:CCDS3635.1"
                     /db_xref="GeneID:22915"
                     /db_xref="HGNC:HGNC:7178"
                     /db_xref="MIM:601456"
                     /translation="MKGARLFVLLSSLWSGGIGLNNSKHSWTIPEDGNSQKTMPSASV
                     PPNKIQSLQILPTTRVMSAEIATTPEARTSEDSLLKSTLPPSETSAPAEGVRNQTLTS
                     TEKAEGVVKLQNLTLPTNASIKFNPGAESVVLSNSTLKFLQSFARKSNEQATSLNTVG
                     GTGGIGGVGGTGGVGNRAPRETYLSRGDSSSSQRTDYQKSNFETTRGKNWCAYVHTRL
                     SPTVILDNQVTYVPGGKGPCGWTGGSCPQRSQKISNPVYRMQHKIVTSLDWRCCPGYS
                     GPKCQLRAQEQQSLIHTNQAESHTAVGRGVAEQQQQQGCGDPEVMQKMTDQVNYQAMK
                     LTLLQKKIDNISLTVNDVRNTYSSLEGKVSEDKSREFQSLLKGLKSKSINVLIRDIVR
                     EQFKIFQNDMQETVAQLFKTVSSLSEDLESTRQIIQKVNESVVSIAAQQKFVLVQENR
                     PTLTDIVELRNHIVNVRQEMTLTCEKPIKELEVKQTHLEGALEQEHSRSILYYESLNK
                     TLSKLKEVHEQLLSTEQVSDQKNAPAAESVSNNVTEYMSTLHENIKKQSLMMLQMFED
                     LHIQESKINNLTVSLEMEKESLRGECEDMLSKCRNDFKFQLKDTEENLHVLNQTLAEV
                     LFPMDNKMDKMSEQLNDLTYDMEILQPLLEQGASLRQTMTYEQPKEAIVIRKKIENLT
                     SAVNSLNFIIKELTKRHNLLRNEVQGRDDALERRINEYALEMEDGLNKTMTIINNAID
                     FIQDNYALKETLSTIKDNSEIHHKCTSDMETILTFIPQFHRLNDSIQTLVNDNQRYNF
                     VLQVAKTLAGIPRDEKLNQSNFQKMYQMFNETTSQVRKYQQNMSHLEEKLLLTTKISK
                     NFETRLQDIESKVTQTLIPYYISVKKGSVVTNERDQALQLQVLNSRFKALEAKSIHLS
                     INFFSLNKTLHEVLTMCHNASTSVSELNATIPKWIKHSLPDIQLLQKGLTEFVEPIIQ
                     IKTQAALSNLTCCIDRSLPGSLANVVKSQKQVKSLPKKINALKKPTVNLTTVLIGRTQ
                     RNTDNIIYPEEYSSCSRHPCQNGGTCINGRTSFTCACRHPFTGDNCTIKLVEENALAP
                     DFSKGSYRYAPMVAFFASHTYGMTIPGPILFNNLDVNYGASYTPRTGKFRIPYLGVYV
                     FKYTIESFSAHISGFLVVDGIDKLAFESENINSEIHCDRVLTGDALLELNYGQEVWLR
                     LAKGTIPAKFPPVTTFSGYLLYRT"
     exon            742..861
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            862..968
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1073
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1247
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..3236
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            3237..3383
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     exon            3384..5001
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4226..4231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /note="hexamer: AATAAA"
     polyA_site      4249
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
     regulatory      4981..4986
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /note="hexamer: AATAAA"
     polyA_site      5001
                     /gene="MMRN1"
                     /gene_synonym="ECM; EMILIN4; GPIa*; MMRN"
                     /note="major polyA site"
ORIGIN      
        1 acatctcaaa ctggcaaaac tcagtcttag cagattcagt gtggaagcag ctatcaaaaa
       61 ggccataagg attttgtccc caaatttcac atgagctacc ttgcttcaaa ctactgagat
      121 gaagggggca agattatttg tccttctttc tagtttatgg agtgggggca ttgggcttaa
      181 caacagtaag cattcttgga ctatacctga ggatgggaac tctcagaaga ctatgccttc
      241 tgcttcagtt cctccaaata aaatacaaag tttgcaaata ctgccaacca ctcgggtcat
      301 gtcggcggag atagctacaa ctccagaggc aagaacttct gaagacagtc ttcttaaatc
      361 aacactgcct ccctcagaaa caagtgcacc tgctgagggt gtgagaaatc aaactctcac
      421 atccacagag aaagcagaag gagtggtcaa gttacagaat cttaccctcc caaccaacgc
      481 tagcatcaag ttcaatcctg gagcagaatc agtggtcctt tccaattcta cactgaaatt
      541 tcttcagagc tttgccagaa agtcaaatga acaagcaact tctctaaaca cagttggagg
      601 cactggaggc attggaggcg ttggaggcac tggaggcgtg ggaaatcgag ccccacggga
      661 aacatacctc agccggggtg acagcagttc cagccaaaga actgactacc aaaaatcaaa
      721 tttcgaaaca actagaggaa agaattggtg tgcttatgta cataccaggt tatctcccac
      781 agtgatattg gacaaccagg tcacttatgt cccaggtggg aaaggacctt gtggctggac
      841 cggtggatcc tgtcctcaga gatctcagaa gatatccaat cctgtctata ggatgcaaca
      901 taaaattgtc acctcattgg attggaggtg ctgtcctgga tacagtgggc cgaaatgtca
      961 actaagagcc caggaacagc aaagtttgat acacaccaac caggctgaaa gtcatacagc
     1021 tgttggcaga ggagtagctg agcagcagca gcagcaaggc tgtggtgacc cagaagtgat
     1081 gcaaaaaatg actgatcagg tgaactacca ggcaatgaaa ctgactcttc tgcagaagaa
     1141 gattgacaat atttctttga ctgtgaatga tgtaaggaac acttactcct ccctagaagg
     1201 aaaagtcagc gaagataaaa gcagagaatt tcaatctctt ctaaaaggtc taaaatccaa
     1261 aagcattaat gtactgataa gagacatagt aagagaacaa tttaaaattt ttcaaaatga
     1321 catgcaagag actgtagcac agctcttcaa gactgtatca agtctatcag aggacctcga
     1381 aagcaccagg caaataattc aaaaagttaa tgaatctgtg gtttcaatag cagcccagca
     1441 aaagtttgtt ttggtgcaag agaatcggcc cactttgact gatatagtgg aactaaggaa
     1501 tcacattgtg aatgtaaggc aagaaatgac tcttacatgt gagaagccta ttaaagaact
     1561 agaagtaaag cagactcatt tagaaggtgc tctagaacag gaacactcaa gaagcattct
     1621 gtattatgaa tccctcaata aaactctttc taaattgaag gaagtacatg agcagctttt
     1681 atcaactgaa caggtatcag accagaagaa tgctccagct gctgagtcag ttagcaataa
     1741 tgtcactgag tacatgtcta ctttacatga aaatataaag aagcagagtt tgatgatgct
     1801 gcaaatgttt gaagatttgc acattcaaga aagcaagatt aacaatctca ccgtctcttt
     1861 ggagatggag aaagagtctc tcagaggtga atgtgaagac atgttatcca aatgcagaaa
     1921 tgattttaaa tttcaactta aggacacaga agagaattta catgtgttaa atcaaacatt
     1981 ggctgaagtt ctctttccaa tggacaataa gatggacaaa atgagtgagc aactaaatga
     2041 tttgacttat gatatggaga tccttcaacc cttgcttgag cagggagcat cactcagaca
     2101 gacaatgaca tatgaacaac caaaggaagc aatagtgata aggaaaaaga tagaaaatct
     2161 gactagtgct gtcaatagtc taaattttat tatcaaagaa cttacaaaaa gacacaactt
     2221 acttagaaat gaagtacagg gtcgtgatga tgccttagaa agacgtatca atgaatatgc
     2281 cttagaaatg gaagatggcc tcaataagac aatgactatt ataaataatg ctattgattt
     2341 cattcaagat aactatgccc taaaagagac tttaagtact attaaggata atagtgagat
     2401 ccatcataaa tgtacctccg atatggaaac tattttgaca tttattcctc agttccaccg
     2461 tctgaatgat tctattcaga ctttggtcaa tgacaatcag agatataact ttgttttgca
     2521 agtcgccaag acccttgcag gtattcccag agatgagaaa ctaaatcagt ccaacttcca
     2581 aaagatgtat caaatgttca atgaaaccac ttcccaagtg agaaaatacc agcaaaatat
     2641 gagtcatttg gaagaaaaac tactcttaac taccaagatt tccaaaaatt ttgagactcg
     2701 gttgcaagac attgagtcta aagttaccca gacgctcata ccttattata tttcagttaa
     2761 aaaaggcagt gtagttacaa atgagagaga tcaggctctt caactgcaag tattaaattc
     2821 cagatttaag gcgttggaag caaaatctat ccatctttca attaacttct tttcgcttaa
     2881 caaaactctc cacgaagttt taacaatgtg tcacaatgct tctacaagtg tgtcagaact
     2941 gaatgctacc atccctaagt ggataaaaca ttccctgcca gatattcaac ttcttcagaa
     3001 aggtctaaca gaatttgtgg aaccaataat tcaaataaaa actcaagctg ccctatctaa
     3061 tttaacttgt tgtatagatc gatcgttgcc tggtagtctg gcaaatgttg tcaagtctca
     3121 gaagcaagta aaatcattgc caaagaaaat taacgcactt aagaaaccaa cggtaaatct
     3181 taccacagtc ctgataggcc ggactcaaag aaacacggac aacataatat atcctgagga
     3241 gtattcaagc tgtagtcggc atccgtgcca aaatgggggc acgtgcataa atggaagaac
     3301 tagctttacc tgtgcctgca gacatccttt tactggtgac aactgcacta tcaagcttgt
     3361 ggaagaaaat gctttagctc cagatttttc caaaggatct tacagatatg cacccatggt
     3421 ggcatttttt gcatctcata cgtatggaat gactatacct ggtcctatcc tgtttaataa
     3481 cttggatgtc aattatggag cttcatatac cccaagaact ggaaaattta gaattccgta
     3541 tcttggagta tatgttttca agtacaccat cgagtcattt agtgctcata tttctggatt
     3601 tttagtggtt gatggaatag acaagcttgc atttgagtct gaaaatatta acagtgaaat
     3661 acactgtgat agggttttaa ctggggatgc cttattagaa ttaaattatg ggcaggaagt
     3721 ctggttacga cttgcaaaag gaacaattcc agccaagttt ccccctgtta ctacatttag
     3781 tggctattta ttatatcgta cataagttag tatgaaaaac agactatcac ctttattgag
     3841 aaacagccag tgttttcatt tatctttgct tgcacatctg ctctgttttg gtttttctac
     3901 aggaaatgaa aatcaacttg tttttttaat atgagtaaac ttgtatgtct attttataaa
     3961 attatttgaa tattgtttaa tgtctgaata tgaaagagtt cttgatccta aagaaattta
     4021 gtggcacaga aaacaaagtg aatttgttag cataattatt cctattctta tttcttcatt
     4081 ttaagtcatt gcaatggaaa gtaatattat aaaatggtaa ttacaacata ttatcagtca
     4141 cagttttctt tccaattaaa cacttaactt ttgttattcc ctgtatataa atatataaca
     4201 cacattttct agattcacaa atttaaataa attactcaaa aaatgaaaat tgattttgta
     4261 aacttttatt tttactcttt acgttgagtt gatcaatttt ccatactaag attttcattc
     4321 agaatcaaaa ttaagaaagt tggactgaaa atatgaaaaa tgcttaacta ttgttctctt
     4381 cctataattc tctaattata acatagtaat ttacatgtag ttggacatgt acactcaagt
     4441 ctaagaatat atgagtggat catttaccgc cccccgcccc acaacatcta taaggggcaa
     4501 aaagtctttt tctaataagt attcttctat ggtagtacct acagatctgc ccttcttctt
     4561 ctaaagggta agtcataatc tgtgtaatac tacaatttat gggatgctca ctatgccctg
     4621 tttctcttct aaacaattta catgtaatgt ctcattcctc acaataaccc ttgtaaagtg
     4681 ggcatgatta ccatgatttt tatagttgaa gaacctaaga cacagagacc aaggcccatg
     4741 agctcatagg gctgaggcag gatttggaat caggccatgt cttctccaga gcccacatcc
     4801 atcctttctc tatattgcct cccacagatg tgctaaaatt tatttaacta atcctttatc
     4861 ctctatttgt gttgtctccc attttttatt attacaatat tactgtggtg aacatgctta
     4921 aaaatacatt ccttggatat ctgacaacgt gtttctgaaa aacagatttt cataagtaat
     4981 aataaaaata ataataaaaa a
//
