LOCUS       NM_139125               3894 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens MBL associated serine protease 1 (MASP1), transcript
            variant 2, mRNA.
ACCESSION   NM_139125
VERSION     NM_139125.4
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 3894)
  AUTHORS   Liu,X., Tan,S., Liu,H., Jiang,J., Wang,X., Li,L. and Wu,B.
  TITLE     Hepatocyte-derived MASP1-enriched small extracellular vesicles
            activate HSCs to promote liver fibrosis
  JOURNAL   Hepatology 77 (4), 1181-1197 (2023)
   PUBMED   35849032
  REMARK    GeneRIF: Hepatocyte-derived MASP1-enriched small extracellular
            vesicles activate HSCs to promote liver fibrosis.
REFERENCE   2  (bases 1 to 3894)
  AUTHORS   Bhagwat,S.R., Choudhary,K., Pandya,N., Sharma,S., Srivastava,S.,
            Kumar,A. and Hajela,K.
  TITLE     Identification of substrates of MBL Associated Serine Protease-1
            (MASP-1) from human plasma using N-terminomics strategy
  JOURNAL   Mol Immunol 151, 114-125 (2022)
   PUBMED   36126499
  REMARK    GeneRIF: Identification of substrates of MBL Associated Serine
            Protease-1 (MASP-1) from human plasma using N-terminomics strategy.
REFERENCE   3  (bases 1 to 3894)
  AUTHORS   Oliveira Cavalcanti,E., Freitas Lidani,K.C., de Freitas Oliveira
            Tore,C., de Messias Reason,I.J. and Andrade,F.A.
  TITLE     MASP1 Gene Polymorphism and MASP-3 Serum Levels in Patients with
            Chronic Chagas Disease
  JOURNAL   Immunol Invest 51 (7), 2108-2121 (2022)
   PUBMED   36166216
  REMARK    GeneRIF: MASP1 Gene Polymorphism and MASP-3 Serum Levels in
            Patients with Chronic Chagas Disease.
REFERENCE   4  (bases 1 to 3894)
  AUTHORS   Zhang,C.H., Xu,Z.Q., Peng,L.L., Wang,J.J. and Gu,H.T.
  TITLE     Comprehensive analysis of the immune and prognostic implication of
            MASP1 in stomach adenocarcinoma
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (18), 6725-6741 (2022)
   PUBMED   36196721
  REMARK    GeneRIF: Comprehensive analysis of the immune and prognostic
            implication of MASP1 in stomach adenocarcinoma.
REFERENCE   5  (bases 1 to 3894)
  AUTHORS   Golomingi,M., Kohler,J., Jenny,L., Hardy,E.T., Dobo,J., Gal,P.,
            Pal,G., Kiss,B., Lam,W.A. and Schroeder,V.
  TITLE     Complement lectin pathway components MBL and MASP-1 promote
            haemostasis upon vessel injury in a microvascular bleeding model
  JOURNAL   Front Immunol 13, 948190 (2022)
   PUBMED   36032172
  REMARK    GeneRIF: Complement lectin pathway components MBL and MASP-1
            promote haemostasis upon vessel injury in a microvascular bleeding
            model.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3894)
  AUTHORS   Endo,M., Ohi,H., Ohsawa,I., Fujita,T., Matsushita,M. and Fujita,T.
  TITLE     Glomerular deposition of mannose-binding lectin (MBL) indicates a
            novel mechanism of complement activation in IgA nephropathy
  JOURNAL   Nephrol Dial Transplant 13 (8), 1984-1990 (1998)
   PUBMED   9719152
REFERENCE   7  (bases 1 to 3894)
  AUTHORS   Endo,Y., Sato,T., Matsushita,M. and Fujita,T.
  TITLE     Exon structure of the gene encoding the human mannose-binding
            protein-associated serine protease light chain: comparison with
            complement C1r and C1s genes
  JOURNAL   Int Immunol 8 (9), 1355-1358 (1996)
   PUBMED   8921412
REFERENCE   8  (bases 1 to 3894)
  AUTHORS   Takada,F., Seki,N., Matsuda,Y., Takayama,Y. and Kawakami,M.
  TITLE     Localization of the genes for the 100-kDa complement-activating
            components of Ra-reactive factor (CRARF and Crarf) to human
            3q27-q28 and mouse 16B2-B3
  JOURNAL   Genomics 25 (3), 757-759 (1995)
   PUBMED   7759119
REFERENCE   9  (bases 1 to 3894)
  AUTHORS   Sato,T., Endo,Y., Matsushita,M. and Fujita,T.
  TITLE     Molecular characterization of a novel serine protease involved in
            activation of the complement system by mannose-binding protein
  JOURNAL   Int Immunol 6 (4), 665-669 (1994)
   PUBMED   8018603
REFERENCE   10 (bases 1 to 3894)
  AUTHORS   Takada,F., Takayama,Y., Hatsuse,H. and Kawakami,M.
  TITLE     A new member of the C1s family of complement proteins found in a
            bactericidal factor, Ra-reactive factor, in human serum
  JOURNAL   Biochem Biophys Res Commun 196 (2), 1003-1009 (1993)
   PUBMED   8240317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291157.1, AC007920.18,
            AF284421.1 and AI278088.1.
            
            On Nov 30, 2019 this sequence version replaced NM_139125.3.
            
            Summary: This gene encodes a serine protease that functions as a
            component of the lectin pathway of complement activation. The
            complement pathway plays an essential role in the innate and
            adaptive immune response. The encoded protein is synthesized as a
            zymogen and is activated when it complexes with the pathogen
            recognition molecules of lectin pathway, the mannose-binding lectin
            and the ficolins. This protein is not directly involved in
            complement activation but may play a role as an amplifier of
            complement activation by cleaving complement C2 or by activating
            another complement serine protease, MASP-2. The encoded protein is
            also able to cleave fibrinogen and factor XIII and may may be
            involved in coagulation. A splice variant of this gene which lacks
            the serine protease domain functions as an inhibitor of the
            complement pathway. Alternate splicing results in multiple
            transcript variants.[provided by RefSeq, Apr 2010].
            
            Transcript Variant: This variant (2) differs in the 3' UTR and 3'
            coding region, compared to variant 1. The encoded isoform (2) is
            longer and has a distinct C-terminus, compared to isoform 1. This
            isoform (2) is referred to as MASP3 in the literature.
            
            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 :: AF284421.1, AK291157.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296280.11/ ENSP00000296280.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1279              AK291157.1         122-1400
            1280-1280           AC007920.18        118319-118319
            1281-1439           AK291157.1         1402-1560
            1440-3892           AF284421.1         1425-3877
            3893-3894           AI278088.1         6-7                 c
FEATURES             Location/Qualifiers
     source          1..3894
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.3"
     gene            1..3894
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /note="MBL associated serine protease 1"
                     /db_xref="GeneID:5648"
                     /db_xref="HGNC:HGNC:6901"
                     /db_xref="MIM:600521"
     exon            1..110
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     CDS             106..2292
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /EC_number="3.4.21.-"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; Ra-reactive factor serine protease p100; C4/C2
                     activating component of Ra-reactive factor; mannan-binding
                     lectin serine protease 1; mannose-associated serine
                     protease 1; mannan binding lectin serine peptidase 1;
                     serine protease 5; complement factor MASP-3;
                     mannose-binding protein-associated serine protease;
                     mannose-binding lectin-associated serine protease 1;
                     complement-activating component of Ra-reactive factor"
                     /codon_start=1
                     /product="mannan-binding lectin serine protease 1 isoform
                     2 precursor"
                     /protein_id="NP_624302.1"
                     /db_xref="CCDS:CCDS33908.1"
                     /db_xref="GeneID:5648"
                     /db_xref="HGNC:HGNC:6901"
                     /db_xref="MIM:600521"
                     /translation="MRWLLLYYALCFSLSKASAHTVELNNMFGQIQSPGYPDSYPSDS
                     EVTWNITVPDGFRIKLYFMHFNLESSYLCEYDYVKVETEDQVLATFCGRETTDTEQTP
                     GQEVVLSPGSFMSITFRSDFSNEERFTGFDAHYMAVDVDECKEREDEELSCDHYCHNY
                     IGGYYCSCRFGYILHTDNRTCRVECSDNLFTQRTGVITSPDFPNPYPKSSECLYTIEL
                     EEGFMVNLQFEDIFDIEDHPEVPCPYDYIKIKVGPKVLGPFCGEKAPEPISTQSHSVL
                     ILFHSDNSGENRGWRLSYRAAGNECPELQPPVHGKIEPSQAKYFFKDQVLVSCDTGYK
                     VLKDNVEMDTFQIECLKDGTWSNKIPTCKIVDCRAPGELEHGLITFSTRNNLTTYKSE
                     IKYSCQEPYYKMLNNNTGIYTCSAQGVWMNKVLGRSLPTCLPECGQPSRSLPSLVKRI
                     IGGRNAEPGLFPWQALIVVEDTSRVPNDKWFGSGALLSASWILTAAHVLRSQRRDTTV
                     IPVSKEHVTVYLGLHDVRDKSGAVNSSAARVVLHPDFNIQNYNHDIALVQLQEPVPLG
                     PHVMPVCLPRLEPEGPAPHMLGLVAGWGISNPNVTVDEIISSGTRTLSDVLQYVKLPV
                     VPHAECKTSYESRSGNYSVTENMFCAGYYEGGKDTCLGDSGGAFVIFDDLSQRWVVQG
                     LVSWGGPEECGSKQVYGVYTKVSNYVDWVWEQMGLPQSVVEPQVER"
     exon            111..342
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     exon            343..520
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     exon            521..652
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     exon            653..849
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     exon            850..997
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1116
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..1195
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1333
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..1408
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..3894
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3870..3875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /note="hexamer: AATAAA"
     polyA_site      3894
                     /gene="MASP1"
                     /gene_synonym="3MC1; CRARF; CRARF1; MAP-1; MAP1; MAp44;
                     MASP; MASP-3; MASP3; PRSS5; RaRF"
                     /note="major polyA site"
ORIGIN      
        1 agaacaaaga taaggcatca cggacaccac accgggcacg agctcacagg caagtcaagc
       61 tgggaggacc aaggccgggc agccgggagc acccaaggca ggaaaatgag gtggctgctt
      121 ctctattatg ctctgtgctt ctccctgtca aaggcttcag cccacaccgt ggagctaaac
      181 aatatgtttg gccagatcca gtcgcctggt tatccagact cctatcccag tgattcagag
      241 gtgacttgga atatcactgt cccagatggg tttcggatca agctttactt catgcacttc
      301 aacttggaat cctcctacct ttgtgaatat gactatgtga aggtagaaac tgaggaccag
      361 gtgctggcaa ccttctgtgg cagggagacc acagacacag agcagactcc cggccaggag
      421 gtggtcctct cccctggctc cttcatgtcc atcactttcc ggtcagattt ctccaatgag
      481 gagcgtttca caggctttga tgcccactac atggctgtgg atgtggacga gtgcaaggag
      541 agggaggacg aggagctgtc ctgtgaccac tactgccaca actacattgg cggctactac
      601 tgctcctgcc gcttcggcta catcctccac acagacaaca ggacctgccg agtggagtgc
      661 agtgacaacc tcttcactca aaggactggg gtgatcacca gccctgactt cccaaaccct
      721 taccccaaga gctctgaatg cctgtatacc atcgagctgg aggagggttt catggtcaac
      781 ctgcagtttg aggacatatt tgacattgag gaccatcctg aggtgccctg cccctatgac
      841 tacatcaaga tcaaagttgg tccaaaagtt ttggggcctt tctgtggaga gaaagcccca
      901 gaacccatca gcacccagag ccacagtgtc ctgatcctgt tccatagtga caactcggga
      961 gagaaccggg gctggaggct ctcatacagg gctgcaggaa atgagtgccc agagctacag
     1021 cctcctgtcc atgggaaaat cgagccctcc caagccaagt atttcttcaa agaccaagtg
     1081 ctcgtcagct gtgacacagg ctacaaagtg ctgaaggata atgtggagat ggacacattc
     1141 cagattgagt gtctgaagga tgggacgtgg agtaacaaga ttcccacctg taaaattgta
     1201 gactgtagag ccccaggaga gctggaacac gggctgatca ccttctctac aaggaacaac
     1261 ctcaccacat acaagtctga gatcaaatac tcctgtcagg agccctatta caagatgctc
     1321 aacaataaca caggtatata tacctgttct gcccaaggag tctggatgaa taaagtattg
     1381 gggagaagcc tacccacctg ccttccagag tgtggtcagc cctcccgctc cctgccaagc
     1441 ctggtcaaga ggatcattgg gggccgaaat gctgagcctg gcctcttccc gtggcaggcc
     1501 ctgatagtgg tggaggacac ttcgagagtg ccaaatgaca agtggtttgg gagtggggcc
     1561 ctgctctctg cgtcctggat cctcacagca gctcatgtgc tgcgctccca gcgtagagac
     1621 accacggtga taccagtctc caaggagcat gtcaccgtct acctgggctt gcatgatgtg
     1681 cgagacaaat cgggggcagt caacagctca gctgcccgag tggtgctcca cccagacttc
     1741 aacatccaaa actacaacca cgatatagct ctggtgcagc tgcaggagcc tgtgcccctg
     1801 ggaccccacg ttatgcctgt ctgcctgcca aggcttgagc ctgaaggccc ggccccccac
     1861 atgctgggcc tggtggccgg ctggggcatc tccaatccca atgtgacagt ggatgagatc
     1921 atcagcagtg gcacacggac cttgtcagat gtcctgcagt atgtcaagtt acccgtggtg
     1981 cctcacgctg agtgcaaaac tagctatgag tcccgctcgg gcaattacag cgtcacggag
     2041 aacatgttct gtgctggcta ctacgagggc ggcaaagaca cgtgccttgg agatagcggt
     2101 ggggcctttg tcatctttga tgacttgagc cagcgctggg tggtgcaagg cctggtgtcc
     2161 tgggggggac ctgaagaatg cggcagcaag caggtctatg gagtctacac aaaggtctcc
     2221 aattacgtgg actgggtgtg ggagcagatg ggcttaccac aaagtgttgt ggagccccag
     2281 gtggaacggt gagctgactt acttcctcgg ggcctgcctc ccctgagcga agctacaccg
     2341 cacttccgac agcacactcc acattactta tcagaccata tggaatggaa cacactgacc
     2401 tagcggtggc ttctcctacc gagacagccc ccaggaccct gagaggcaga gtgtggtata
     2461 gggaaaaggc tccaggcagg agacctgtgt tcctgagctt gtccaagtct ctttccctgt
     2521 ctgggcctca ctctaccgag taatacaatg caggagctca accaaggcct ctgtgccaat
     2581 cccagcactc ctttccaggc catgcttctt accccagtgg cctttattca ctcctgacca
     2641 cttatcaaac ccatcggtcc tactgttggt ataactgagc ttggacctga ctattagaaa
     2701 atggtttcta acattgaact gaatgccgca tctgtatatt ttcctgctct gccttctggg
     2761 actagccttg gcctaatcct tcctctagga gaagagcatt caggttttgg gagatggctc
     2821 atagccaagc ccctctctct tagtgtgatc ccttggagca ccttcatgcc tggggtttct
     2881 ctcccaaaag cttcttgcag tctaagcctt atcccttatg ttccccatta aaggaatttc
     2941 aaaagacatg gagaaagttg ggaaggtttg tgctgactgc tgggagcaga atagccgtgg
     3001 gaggcccacc aagcccttaa attcccattg tcaactcaga acacatttgg gcccatatgc
     3061 caccctggaa caccagctga caccatgggc gtccacacct gctgctccag acaagcacaa
     3121 agcaatcttt cagccttgaa atgtattatc tgaaaggcta cctgaagccc aggcccgaat
     3181 atggggactt agtcgattac ctggaaaaag aaaagaccca cactgtgtcc tgctgtgctt
     3241 ttgggcagga aaatggaaga aagagtgggg tgggcacatt agaagtcacc caaatcctgc
     3301 caggctgcct ggcatccctg gggcatgagc tgggcggaga atccaccccg caggatgttc
     3361 agagggaccc actccttcat ttttcagagt caaaggaatc agaggctcac ccatggcagg
     3421 cagtgaaaag agccaggagt cctgggttct agtccctgct ctgcccccaa ctggctgtat
     3481 aacctttgaa aaatcatttt ctttgtctga gtctctggtt ctccgtcagc aacaggctgg
     3541 cataaggtcc cctgcaggtt ccttctagct ggagcactca gagcttccct gactgctagc
     3601 agcctctctg gccctcacag ggctgattgt tctccttctc cctggagctc tctctcctga
     3661 aaatctccat cagagcaagg cagccagaga agcccctgag agggaatgat tgggaagtgt
     3721 ccactttctc aaccggctca tcaaacacac tcctttgtct atgaatggca catgtaaatg
     3781 atgttatatt ttgtatcttt tatatcatat gcttcaccat tctgtaaagg gcctctgcat
     3841 tgttgctccc atcaggggtc tcaagtggaa ataaaccctc gtggataacc aaca
//
