LOCUS       NM_001145252            2489 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens complement factor properdin (CFP), transcript variant
            2, mRNA.
ACCESSION   NM_001145252
VERSION     NM_001145252.3
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 2489)
  AUTHORS   van Essen,M.F., Schlagwein,N., van Gijlswijk-Janssen,D.J.,
            Ruben,J.M. and van Kooten,C.
  CONSRTM   COMBAT consortium
  TITLE     Properdin produced by dendritic cells contributes to the activation
            of T cells
  JOURNAL   Immunobiology 227 (4), 152246 (2022)
   PUBMED   35843030
  REMARK    GeneRIF: Properdin produced by dendritic cells contributes to the
            activation of T cells.
REFERENCE   2  (bases 1 to 2489)
  AUTHORS   Braunger,K., Ahn,J., Jore,M.M., Johnson,S., Tang,T.T.L.,
            Pedersen,D.V., Andersen,G.R. and Lea,S.M.
  TITLE     Structure and function of a family of tick-derived complement
            inhibitors targeting properdin
  JOURNAL   Nat Commun 13 (1), 317 (2022)
   PUBMED   35031611
  REMARK    GeneRIF: Structure and function of a family of tick-derived
            complement inhibitors targeting properdin.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2489)
  AUTHORS   Al-Rayahi,I.A.M., Machado,L.R. and Stover,C.M.
  TITLE     Properdin Is a Modulator of Tumour Immunity in a Syngeneic Mouse
            Melanoma Model
  JOURNAL   Medicina (Kaunas) 57 (2), 85 (2021)
   PUBMED   33494138
  REMARK    GeneRIF: Properdin Is a Modulator of Tumour Immunity in a Syngeneic
            Mouse Melanoma Model.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2489)
  AUTHORS   Martinez,A.P.G., Abreu,P.A.E., de Arruda Vasconcellos,S., Ho,P.L.,
            Ferreira,V.P., Saggu,G., Barbosa,A.S. and Isaac,L.
  TITLE     The Role of Properdin in Killing of Non-Pathogenic Leptospira
            biflexa
  JOURNAL   Front Immunol 11, 572562 (2020)
   PUBMED   33240263
  REMARK    GeneRIF: The Role of Properdin in Killing of Non-Pathogenic
            Leptospira biflexa.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2489)
  AUTHORS   Maves,K.K. and Weiler,J.M.
  TITLE     Detection of properdin mRNA in human peripheral blood monocytes and
            spleen
  JOURNAL   J Lab Clin Med 120 (5), 762-766 (1992)
   PUBMED   1431505
REFERENCE   6  (bases 1 to 2489)
  AUTHORS   Nolan,K.F., Kaluz,S., Higgins,J.M., Goundis,D. and Reid,K.B.
  TITLE     Characterization of the human properdin gene
  JOURNAL   Biochem J 287 (Pt 1) (Pt 1), 291-297 (1992)
   PUBMED   1417780
REFERENCE   7  (bases 1 to 2489)
  AUTHORS   Coleman,M.P., Murray,J.C., Willard,H.F., Nolan,K.F., Reid,K.B.,
            Blake,D.J., Lindsay,S., Bhattacharya,S.S., Wright,A. and
            Davies,K.E.
  TITLE     Genetic and physical mapping around the properdin P gene
  JOURNAL   Genomics 11 (4), 991-996 (1991)
   PUBMED   1783405
REFERENCE   8  (bases 1 to 2489)
  AUTHORS   Nolan,K.F., Schwaeble,W., Kaluz,S., Dierich,M.P. and Reid,K.B.
  TITLE     Molecular cloning of the cDNA coding for properdin, a positive
            regulator of the alternative pathway of human complement
  JOURNAL   Eur J Immunol 21 (3), 771-776 (1991)
   PUBMED   2009915
REFERENCE   9  (bases 1 to 2489)
  AUTHORS   Goundis,D., Holt,S.M., Boyd,Y. and Reid,K.B.
  TITLE     Localization of the properdin structural locus to Xp11.23-Xp21.1
  JOURNAL   Genomics 5 (1), 56-60 (1989)
   PUBMED   2570030
REFERENCE   10 (bases 1 to 2489)
  AUTHORS   Fearon,D.T.
  TITLE     Activation of the alternative complement pathway
  JOURNAL   CRC Crit Rev Immunol 1 (1), 1-32 (1979)
   PUBMED   162484
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB146591.1, X57748.1,
            BC015756.1 and AL009172.1.
            
            On Aug 7, 2019 this sequence version replaced NM_001145252.2.
            
            Summary: This gene encodes a plasma glycoprotein that positively
            regulates the alternative complement pathway of the innate immune
            system. This protein binds to many microbial surfaces and apoptotic
            cells and stabilizes the C3- and C5-convertase enzyme complexes in
            a feedback loop that ultimately leads to formation of the membrane
            attack complex and lysis of the target cell. Mutations in this gene
            result in two forms of properdin deficiency, which results in high
            susceptibility to meningococcal infections. Multiple alternatively
            spliced variants, encoding the same protein, have been
            identified.[provided by RefSeq, Feb 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            represents use of an alternate promoter compared to variant 1. Both
            variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC015756.1, M83652.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396992.8/ ENSP00000380189.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DB146591.1         42-62
            22-332              X57748.1           1-311
            333-1558            BC015756.1         307-1532
            1559-2489           AL009172.1         19408-20338         c
FEATURES             Location/Qualifiers
     source          1..2489
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..2489
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /note="complement factor properdin"
                     /db_xref="GeneID:5199"
                     /db_xref="HGNC:HGNC:8864"
                     /db_xref="MIM:300383"
     exon            1..162
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1496
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /note="properdin P factor, complement; complement factor
                     P"
                     /codon_start=1
                     /product="properdin precursor"
                     /protein_id="NP_001138724.1"
                     /db_xref="CCDS:CCDS14282.1"
                     /db_xref="GeneID:5199"
                     /db_xref="HGNC:HGNC:8864"
                     /db_xref="MIM:300383"
                     /translation="MITEGAQAPRLLLPPLLLLLTLPATGSDPVLCFTQYEESSGKCK
                     GLLGGGVSVEDCCLNTAFAYQKRSGGLCQPCRSPRWSLWSTWAPCSVTCSEGSQLRYR
                     RCVGWNGQCSGKVAPGTLEWQLQACEDQQCCPEMGGWSGWGPWEPCSVTCSKGTRTRR
                     RACNHPAPKCGGHCPGQAQESEACDTQQVCPTHGAWATWGPWTPCSASCHGGPHEPKE
                     TRSRKCSAPEPSQKPPGKPCPGLAYEQRRCTGLPPCPVAGGWGPWGPVSPCPVTCGLG
                     QTMEQRTCNHPVPQHGGPFCAGDATRTHICNTAVPCPVDGEWDSWGEWSPCIRRNMKS
                     ISCQEIPGQQSRGRTCRGRKFDGHRCAGQQQDIRHCYSIQHCPLKGSWSEWSTWGLCM
                     PPCGPNPTRARQRLCTPLLPKYPPTVSMVEGQGEKNVTFWGRPLPRCEELQGQKLVVE
                     EKRPCLHVPACKDPEEEEL"
     exon            163..313
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /inference="alignment:Splign:2.1.0"
     exon            314..489
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /inference="alignment:Splign:2.1.0"
     exon            490..660
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /inference="alignment:Splign:2.1.0"
     exon            661..852
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /inference="alignment:Splign:2.1.0"
     exon            853..1026
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1218
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1330
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..2489
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1540..1545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /note="hexamer: AATAAA"
     polyA_site      1558
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /note="major polyA site"
     regulatory      2469..2474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
                     /note="hexamer: AGTAAA"
     polyA_site      2489
                     /gene="CFP"
                     /gene_synonym="BFD; PFC; PFD; PROPERDIN"
ORIGIN      
        1 ctctttccct gctgattcca ggagcctatc aacccagata aagcgggacc tcctctctgg
       61 tagaggtgca gggggcagta ctcaacatga tcacagaggg agcgcaggcc cctcgattgt
      121 tgctgccgcc gctgctcctg ctgctcaccc tgccagccac aggctcagac cccgtgctct
      181 gcttcaccca gtatgaagaa tcctccggca agtgcaaggg cctcctgggg ggtggtgtca
      241 gcgtggaaga ctgctgtctc aacactgcct ttgcctacca gaaacgtagt ggtgggctct
      301 gtcagccttg caggtcccca cgatggtccc tgtggtccac atgggccccc tgttcggtga
      361 cgtgctctga gggctcccag ctgcggtacc ggcgctgtgt gggctggaat gggcagtgct
      421 ctggaaaggt ggcacctggg accctggagt ggcagctcca ggcctgtgag gaccagcagt
      481 gctgtcctga gatgggcggc tggtctggct gggggccctg ggagccttgc tctgtcacct
      541 gctccaaagg gacccggacc cgcaggcgag cctgtaatca ccctgctccc aagtgtgggg
      601 gccactgccc aggacaggca caggaatcag aggcctgtga cacccagcag gtctgcccca
      661 cacacggggc ctgggccacc tggggcccct ggaccccctg ctcagcctcc tgccacggtg
      721 gaccccacga acctaaggag acacgaagcc gcaagtgttc tgcacctgag ccctcccaga
      781 aacctcctgg gaagccctgc ccggggctag cctacgagca gcggaggtgc accggcctgc
      841 caccctgccc agtggctggg ggctgggggc cttggggccc tgtgagcccc tgccctgtga
      901 cctgtggcct gggccagacc atggaacaac ggacgtgcaa tcaccctgtg ccccagcatg
      961 ggggcccctt ctgtgctggc gatgccaccc ggacccacat ctgcaacaca gctgtgccct
     1021 gccctgtgga tggggagtgg gactcgtggg gggagtggag cccctgtatc cgacggaaca
     1081 tgaagtccat cagctgtcaa gaaatcccgg gccagcagtc acgcgggagg acctgcaggg
     1141 gccgcaagtt tgacggacat cgatgtgccg ggcaacagca ggatatccgg cactgctaca
     1201 gcatccagca ctgccccttg aaaggatcat ggtcagagtg gagtacctgg gggctgtgca
     1261 tgcccccctg tggacctaat cctacccgtg cccgccagcg cctctgcaca cccttgctcc
     1321 ccaagtaccc gcccaccgtt tccatggtcg aaggtcaggg cgagaagaac gtgaccttct
     1381 gggggagacc gctgccacgg tgtgaggagc tacaagggca gaagctggtg gtggaggaga
     1441 aacgaccatg tctacacgtg cctgcttgca aagaccctga ggaagaggaa ctctaacact
     1501 tctctcctcc actctgagcc ccctgacctt ccaaacctca ataaactagc ctcttcgagt
     1561 tcgtctacga ttccttaaag gaggaaaaac aacctatccc cttccccaaa agtagggtga
     1621 tagcatctca tagggcaaac agcacagcac gggccaagac acagcagcct gttgcggaaa
     1681 acagtatttt ccactgtggt cgcaggttgg caggagtgaa agcgagtgtg cagtcccagc
     1741 ctctccccgc cgctgccata accccaatgt ctgggccctg cgcagccccc ttagagcctc
     1801 agggccgccc ggcacgttcc tctgcagagc tccgcgttac gggtttcctg attggctact
     1861 tgtcctggca ggcacttctt gattggccgg cgtgcttgtt cgttgtctcc ccgtctcctg
     1921 gacctcccta gattcccacc agccggaacc ctggaggagc ctctgccggc cgactccgac
     1981 tccgcgtcag tcgaggatga acggcagagg cgtggccgag gctggcaccc tgccgcccga
     2041 gcacctgcac ccacccactc ccgacagccc agctccaatg ccacaattac cagcgacaaa
     2101 tagctcggcg aggcgggggg cgggccgagg aagtgcctgt gttgcgctct gagctgagga
     2161 ggggcaaaga agctagagtc agtatccgcc cggaggagcc cccaagacaa atccagacac
     2221 tttcctctgg taatttgttc attcattcaa cacttattag cgcctgctgt atgctaaagc
     2281 tgagtctgag catctagggt ggaggagggc tggtagaaag aggacatctg agtgagggaa
     2341 cagactcaga aggtattcct ttcgtgtgaa catctattca acacttaacg cctactgtat
     2401 actaacaata gtgctggaca tcacggagaa tagagaagaa gaggaatcag agcgttacgt
     2461 gtctccgcag taaagggaac aaagccaga
//
