LOCUS       NM_001710               2476 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens complement factor B (CFB), mRNA.
ACCESSION   NM_001710
VERSION     NM_001710.6
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 2476)
  AUTHORS   Ghate,A. and Uhlig,H.H.
  TITLE     Defective microbial sensing and clearance in perianal Crohn's
            disease: a role for complement factor B
  JOURNAL   Gut 72 (11), 2010-2012 (2023)
   PUBMED   37098439
  REMARK    GeneRIF: Defective microbial sensing and clearance in perianal
            Crohn's disease: a role for complement factor B.
REFERENCE   2  (bases 1 to 2476)
  AUTHORS   Akhlaghpour,M., Haritunians,T., More,S.K., Thomas,L.S.,
            Stamps,D.T., Dube,S., Li,D., Yang,S., Landers,C.J., Mengesha,E.,
            Hamade,H., Murali,R., Potdar,A.A., Wolf,A.J., Botwin,G.J.,
            Khrom,M., Ananthakrishnan,A.N., Faubion,W.A., Jabri,B., Lira,S.A.,
            Newberry,R.D., Sandler,R.S., Sartor,R.B., Xavier,R.J., Brant,S.R.,
            Cho,J.H., Duerr,R.H., Lazarev,M.G., Rioux,J.D., Schumm,L.P.,
            Silverberg,M.S., Zaghiyan,K., Fleshner,P., Melmed,G.Y.,
            Vasiliauskas,E.A., Ha,C., Rabizadeh,S., Syal,G., Bonthala,N.N.,
            Ziring,D.A., Targan,S.R., Long,M.D., McGovern,D.P.B. and
            Michelsen,K.S.
  CONSRTM   International IBD Genetics Consortium
  TITLE     Genetic coding variant in complement factor B (CFB) is associated
            with increased risk for perianal Crohn's disease and leads to
            impaired CFB cleavage and phagocytosis
  JOURNAL   Gut 72 (11), 2068-2080 (2023)
   PUBMED   37080587
  REMARK    GeneRIF: Genetic coding variant in complement factor B (CFB) is
            associated with increased risk for perianal Crohn's disease and
            leads to impaired CFB cleavage and phagocytosis.
REFERENCE   3  (bases 1 to 2476)
  AUTHORS   Tsiftsoglou,S.A., Gavriilaki,E., Touloumenidou,T., Koravou,E.E.,
            Koutra,M., Papayanni,P.G., Karali,V., Papalexandri,A., Varelas,C.,
            Chatzopoulou,F., Chatzidimitriou,M., Chatzidimitriou,D., Veleni,A.,
            Rapti,E., Kioumis,I., Kaimakamis,E., Bitzani,M., Boumpas,D.T.,
            Tsantes,A., Sotiropoulos,D., Papadopoulou,A., Sakellari,I.,
            Kokoris,S. and Anagnostopoulos,A.
  TITLE     Targeted genotyping of COVID-19 patients reveals a signature of
            complement C3 and factor B coding SNPs associated with severe
            infection
  JOURNAL   Immunobiology 228 (2), 152351 (2023)
   PUBMED   36805858
  REMARK    GeneRIF: Targeted genotyping of COVID-19 patients reveals a
            signature of complement C3 and factor B coding SNPs associated with
            severe infection.
REFERENCE   4  (bases 1 to 2476)
  AUTHORS   Shi,D.C., Feng,S.Z., Zhong,Z., Cai,L., Wang,M., Fu,D.Y., Yu,X.Q.
            and Li,M.
  TITLE     Functional variant rs12614 in CFB confers a low risk of IgA
            nephropathy by attenuating complement alternative pathway
            activation in Han Chinese
  JOURNAL   Front Immunol 13, 973169 (2022)
   PUBMED   36311737
  REMARK    GeneRIF: Functional variant rs12614 in CFB confers a low risk of
            IgA nephropathy by attenuating complement alternative pathway
            activation in Han Chinese.
            Erratum:[Front Immunol. 2022 Nov 24;13:1098003. doi:
            10.3389/fimmu.2022.1098003.. PMID: 36505473]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2476)
  AUTHORS   Martin,B. and Smith,R.J.H.
  TITLE     C3 Glomerulopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301598
REFERENCE   6  (bases 1 to 2476)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301541
REFERENCE   7  (bases 1 to 2476)
  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
REFERENCE   8  (bases 1 to 2476)
  AUTHORS   Schreiber,R.D., Pangburn,M.K., Lesavre,P.H. and
            Muller-Eberhard,H.J.
  TITLE     Initiation of the alternative pathway of complement: recognition of
            activators by bound C3b and assembly of the entire pathway from six
            isolated proteins
  JOURNAL   Proc Natl Acad Sci U S A 75 (8), 3948-3952 (1978)
   PUBMED   279011
REFERENCE   9  (bases 1 to 2476)
  AUTHORS   Arnason,A., Larsen,B., Marshall,W.H., Edwards,J.H., Macintosh,P.,
            Olaisen,B. and Teisberg,P.
  TITLE     Very close linkage between HLA-B and Bf inferred from allelic
            association
  JOURNAL   Nature 268 (5620), 527-528 (1977)
   PUBMED   889587
REFERENCE   10 (bases 1 to 2476)
  AUTHORS   Rittner,C., Grosse-Wilde,H., Netzel,B., Scholz,S., Lorenz,H. and
            Albert,E.D.
  TITLE     Linkage group HL-A-MLC-BF (properdin factor B). The site of the Bf
            locus at the immunogenetic linkage group on chromosome 6
  JOURNAL   Humangenetik 27 (3), 173-183 (1975)
   PUBMED   125222
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC368322.1, BC004143.2 and
            CD689714.1.
            
            On Aug 31, 2019 this sequence version replaced NM_001710.5.
            
            Summary: This gene encodes complement factor B, a component of the
            alternative pathway of complement activation. Factor B circulates
            in the blood as a single chain polypeptide. Upon activation of the
            alternative pathway, it is cleaved by complement factor D yielding
            the noncatalytic chain Ba and the catalytic subunit Bb. The active
            subunit Bb is a serine protease which associates with C3b to form
            the alternative pathway C3 convertase. Bb is involved in the
            proliferation of preactivated B lymphocytes, while Ba inhibits
            their proliferation. This gene localizes to the major
            histocompatibility complex (MHC) class III region on chromosome 6.
            This cluster includes several genes involved in regulation of the
            immune reaction. Polymorphisms in this gene are associated with a
            reduced risk of age-related macular degeneration. The
            polyadenylation site of this gene is 421 bp from the 5' end of the
            gene for complement component 2. [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 :: BC007990.2, AK130533.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000425368.7/ ENSP00000416561.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-221               DC368322.1         152-372
            222-576             BC004143.2         230-584
            577-649             CD689714.1         595-667
            650-2476            BC004143.2         658-2484
FEATURES             Location/Qualifiers
     source          1..2476
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2476
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /note="complement factor B"
                     /db_xref="GeneID:629"
                     /db_xref="HGNC:HGNC:1037"
                     /db_xref="MIM:138470"
     exon            1..191
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..2422
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /EC_number="3.4.21.47"
                     /note="B-factor, properdin; C3 proactivator; C3
                     proaccelerator; glycine-rich beta-glycoprotein; C3/C5
                     convertase; properdin factor B; properdin B"
                     /codon_start=1
                     /product="complement factor B preproprotein"
                     /protein_id="NP_001701.2"
                     /db_xref="CCDS:CCDS4729.1"
                     /db_xref="GeneID:629"
                     /db_xref="HGNC:HGNC:1037"
                     /db_xref="MIM:138470"
                     /translation="MGSNLSPQLCLMPFILGLLSGGVTTTPWSLARPQGSCSLEGVEI
                     KGGSFRLLQEGQALEYVCPSGFYPYPVQTRTCRSTGSWSTLKTQDQKTVRKAECRAIH
                     CPRPHDFENGEYWPRSPYYNVSDEISFHCYDGYTLRGSANRTCQVNGRWSGQTAICDN
                     GAGYCSNPGIPIGTRKVGSQYRLEDSVTYHCSRGLTLRGSQRRTCQEGGSWSGTEPSC
                     QDSFMYDTPQEVAEAFLSSLTETIEGVDAEDGHGPGEQQKRKIVLDPSGSMNIYLVLD
                     GSDSIGASNFTGAKKCLVNLIEKVASYGVKPRYGLVTYATYPKIWVKVSEADSSNADW
                     VTKQLNEINYEDHKLKSGTNTKKALQAVYSMMSWPDDVPPEGWNRTRHVIILMTDGLH
                     NMGGDPITVIDEIRDLLYIGKDRKNPREDYLDVYVFGVGPLVNQVNINALASKKDNEQ
                     HVFKVKDMENLEDVFYQMIDESQSLSLCGMVWEHRKGTDYHKQPWQAKISVIRPSKGH
                     ESCMGAVVSEYFVLTAAHCFTVDDKEHSIKVSVGGEKRDLEIEVVLFHPNYNINGKKE
                     AGIPEFYDYDVALIKLKNKLKYGQTIRPICLPCTEGTTRALRLPPTTTCQQQKEELLP
                     AQDIKALFVSEEEKKLTRKEVYIKNGDKKGSCERDAQYAPGYDKVKDISEVVTPRFLC
                     TGGVSPYADPNTCRGDSGGPLIVHKRSRFIQVGVISWGVVDVCKNQKRQKQVPAHARD
                     FHINLFQVLPWLKEKLQDEDLGFL"
     exon            192..425
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            426..611
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            612..785
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            786..887
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1024
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1163
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1295
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1397
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1398..1535
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..1633
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1751
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1752..1905
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1906..1982
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1983..2083
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2084..2216
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2217..2266
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2267..2476
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2456..2461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /note="hexamer: ATTAAA"
     polyA_site      2476
                     /gene="CFB"
                     /gene_synonym="AHUS4; ARMD14; BF; BFD; CFAB; CFBD; FB;
                     FBI12; GBG; H2-Bf; PBF2"
                     /note="major polyA site"
ORIGIN      
        1 gggaagggaa tgtgaccagg tctaggtctg gagtttcagc ttggacactg agccaagcag
       61 acaagcaaag caagccagga cacaccatcc tgccccaggc ccagcttctc tcctgccttc
      121 caacgccatg gggagcaatc tcagccccca actctgcctg atgcccttta tcttgggcct
      181 cttgtctgga ggtgtgacca ccactccatg gtctttggcc cggccccagg gatcctgctc
      241 tctggagggg gtagagatca aaggcggctc cttccgactt ctccaagagg gccaggcact
      301 ggagtacgtg tgtccttctg gcttctaccc gtaccctgtg cagacacgta cctgcagatc
      361 tacggggtcc tggagcaccc tgaagactca agaccaaaag actgtcagga aggcagagtg
      421 cagagcaatc cactgtccaa gaccacacga cttcgagaac ggggaatact ggccccggtc
      481 tccctactac aatgtgagtg atgagatctc tttccactgc tatgacggtt acactctccg
      541 gggctctgcc aatcgcacct gccaagtgaa tggccgatgg agtgggcaga cagcgatctg
      601 tgacaacgga gcggggtact gctccaaccc gggcatcccc attggcacaa ggaaggtggg
      661 cagccagtac cgccttgaag acagcgtcac ctaccactgc agccgggggc ttaccctgcg
      721 tggctcccag cggcgaacgt gtcaggaagg tggctcttgg agcgggacgg agccttcctg
      781 ccaagactcc ttcatgtacg acacccctca agaggtggcc gaagctttcc tgtcttccct
      841 gacagagacc atagaaggag tcgatgctga ggatgggcac ggcccagggg aacaacagaa
      901 gcggaagatc gtcctggacc cttcaggctc catgaacatc tacctggtgc tagatggatc
      961 agacagcatt ggggccagca acttcacagg agccaaaaag tgtctagtca acttaattga
     1021 gaaggtggca agttatggtg tgaagccaag atatggtcta gtgacatatg ccacataccc
     1081 caaaatttgg gtcaaagtgt ctgaagcaga cagcagtaat gcagactggg tcacgaagca
     1141 gctcaatgaa atcaattatg aagaccacaa gttgaagtca gggactaaca ccaagaaggc
     1201 cctccaggca gtgtacagca tgatgagctg gccagatgac gtccctcctg aaggctggaa
     1261 ccgcacccgc catgtcatca tcctcatgac tgatggattg cacaacatgg gcggggaccc
     1321 aattactgtc attgatgaga tccgggactt gctatacatt ggcaaggatc gcaaaaaccc
     1381 aagggaggat tatctggatg tctatgtgtt tggggtcggg cctttggtga accaagtgaa
     1441 catcaatgct ttggcttcca agaaagacaa tgagcaacat gtgttcaaag tcaaggatat
     1501 ggaaaacctg gaagatgttt tctaccaaat gatcgatgaa agccagtctc tgagtctctg
     1561 tggcatggtt tgggaacaca ggaagggtac cgattaccac aagcaaccat ggcaggccaa
     1621 gatctcagtc attcgccctt caaagggaca cgagagctgt atgggggctg tggtgtctga
     1681 gtactttgtg ctgacagcag cacattgttt cactgtggat gacaaggaac actcaatcaa
     1741 ggtcagcgta ggaggggaga agcgggacct ggagatagaa gtagtcctat ttcaccccaa
     1801 ctacaacatt aatgggaaaa aagaagcagg aattcctgaa ttttatgact atgacgttgc
     1861 cctgatcaag ctcaagaata agctgaaata tggccagact atcaggccca tttgtctccc
     1921 ctgcaccgag ggaacaactc gagctttgag gcttcctcca actaccactt gccagcaaca
     1981 aaaggaagag ctgctccctg cacaggatat caaagctctg tttgtgtctg aggaggagaa
     2041 aaagctgact cggaaggagg tctacatcaa gaatggggat aagaaaggca gctgtgagag
     2101 agatgctcaa tatgccccag gctatgacaa agtcaaggac atctcagagg tggtcacccc
     2161 tcggttcctt tgtactggag gagtgagtcc ctatgctgac cccaatactt gcagaggtga
     2221 ttctggcggc cccttgatag ttcacaagag aagtcgtttc attcaagttg gtgtaatcag
     2281 ctggggagta gtggatgtct gcaaaaacca gaagcggcaa aagcaggtac ctgctcacgc
     2341 ccgagacttt cacatcaacc tctttcaagt gctgccctgg ctgaaggaga aactccaaga
     2401 tgaggatttg ggttttctat aaggggtttc ctgctggaca ggggcgtggg attgaattaa
     2461 aacagctgcg acaaca
//
