LOCUS       NM_000204               1978 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens complement factor I (CFI), transcript variant 2, mRNA.
ACCESSION   NM_000204
VERSION     NM_000204.5
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 1978)
  AUTHORS   Schwotzer,N., Fakhouri,F., Martins,P.V., Delmas,Y., Caillard,S.,
            Zuber,J., Moranne,O., Mesnard,L., Fremeaux-Bacchi,V. and
            El-Sissy,C.
  TITLE     Hot Spot of Complement Factor I Rare Variant p.Ile357Met in
            Patients With Hemolytic Uremic Syndrome
  JOURNAL   Am J Kidney Dis 84 (2), 244-249 (2024)
   PUBMED   38423159
  REMARK    GeneRIF: Hot Spot of Complement Factor I Rare Variant p.Ile357Met
            in Patients With Hemolytic Uremic Syndrome.
REFERENCE   2  (bases 1 to 1978)
  AUTHORS   Felberg,A., Bienkowski,M., Stokowy,T., Myszczynski,K.,
            Polakiewicz,Z., Kitowska,K., Sadej,R., Mohlin,F., Kuzniewska,A.,
            Kowalska,D., Stasilojc,G., Jongerius,I., Spaapen,R.,
            Mesa-Guzman,M., Montuenga,L.M., Blom,A.M., Pio,R. and Okroj,M.
  TITLE     Elevated expression of complement factor I in lung cancer cells
            associates with shorter survival-Potentially via non-canonical
            mechanism
  JOURNAL   Transl Res 269, 1-13 (2024)
   PUBMED   38395390
  REMARK    GeneRIF: Elevated expression of complement factor I in lung cancer
            cells associates with shorter survival-Potentially via
            non-canonical mechanism.
REFERENCE   3  (bases 1 to 1978)
  AUTHORS   Massey,V., Nguyen,C.E., Francois,T., De Bruycker,J.J., Bonnefoy,A.,
            Lapeyraque,A.L. and Decaluwe,H.
  TITLE     CNS Inflammation as the First Sign of Complement Factor I
            Deficiency: A Severe Myelitis Treated With Intense Immunotherapy
            and Eculizumab
  JOURNAL   Neurol Neuroimmunol Neuroinflamm 11 (2), e200191 (2024)
   PUBMED   38134378
  REMARK    GeneRIF: CNS Inflammation as the First Sign of Complement Factor I
            Deficiency.
REFERENCE   4  (bases 1 to 1978)
  AUTHORS   Hallam,T.M., Sharp,S.J., Andreadi,A. and Kavanagh,D.
  TITLE     Complement factor I: Regulatory nexus, driver of immunopathology,
            and therapeutic
  JOURNAL   Immunobiology 228 (5), 152410 (2023)
   PUBMED   37478687
  REMARK    GeneRIF: Complement factor I: Regulatory nexus, driver of
            immunopathology, and therapeutic.
REFERENCE   5  (bases 1 to 1978)
  AUTHORS   van de Ven,J.P., Nilsson,S.C., Tan,P.L., Buitendijk,G.H.,
            Ristau,T., Mohlin,F.C., Nabuurs,S.B., Schoenmaker-Koller,F.E.,
            Smailhodzic,D., Campochiaro,P.A., Zack,D.J., Duvvari,M.R.,
            Bakker,B., Paun,C.C., Boon,C.J., Uitterlinden,A.G., Liakopoulos,S.,
            Klevering,B.J., Fauser,S., Daha,M.R., Katsanis,N., Klaver,C.C.,
            Blom,A.M., Hoyng,C.B. and den Hollander,A.I.
  TITLE     A functional variant in the CFI gene confers a high risk of
            age-related macular degeneration
  JOURNAL   Nat Genet 45 (7), 813-817 (2013)
   PUBMED   23685748
  REMARK    GeneRIF: these findings demonstrate that rare, highly penetrant
            mutations in CFI contribute to the genetic burden of age-related
            macular degeneration.
REFERENCE   6  (bases 1 to 1978)
  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   7  (bases 1 to 1978)
  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   8  (bases 1 to 1978)
  AUTHORS   DiScipio,R.G.
  TITLE     Ultrastructures and interactions of complement factors H and I
  JOURNAL   J Immunol 149 (8), 2592-2599 (1992)
   PUBMED   1401896
REFERENCE   9  (bases 1 to 1978)
  AUTHORS   Shiang,R., Murray,J.C., Morton,C.C., Buetow,K.H., Wasmuth,J.J.,
            Olney,A.H., Sanger,W.G. and Goldberger,G.
  TITLE     Mapping of the human complement factor I gene to 4q25
  JOURNAL   Genomics 4 (1), 82-86 (1989)
   PUBMED   2563353
REFERENCE   10 (bases 1 to 1978)
  AUTHORS   Catterall,C.F., Lyons,A., Sim,R.B., Day,A.J. and Harris,T.J.
  TITLE     Characterization of primary amino acid sequence of human complement
            control protein factor I from an analysis of cDNA clones
  JOURNAL   Biochem J 242 (3), 849-856 (1987)
   PUBMED   2954545
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC126283.3.
            
            On Feb 26, 2020 this sequence version replaced NM_000204.4.
            
            Summary: This gene encodes a serine proteinase that is essential
            for regulating the complement cascade. The encoded preproprotein is
            cleaved to produce both heavy and light chains, which are linked by
            disulfide bonds to form a heterodimeric glycoprotein. This
            heterodimer can cleave and inactivate the complement components C4b
            and C3b, and it prevents the assembly of the C3 and C5 convertase
            enzymes. Defects in this gene cause complement factor I deficiency,
            an autosomal recessive disease associated with a susceptibility to
            pyogenic infections. Mutations in this gene have been associated
            with a predisposition to atypical hemolytic uremic syndrome, a
            disease characterized by acute renal failure, microangiopathic
            hemolytic anemia and thrombocytopenia. Primary glomerulonephritis
            with immune deposits and age-related macular degeneration are other
            conditions associated with mutations of this gene. [provided by
            RefSeq, Dec 2015].
            
            Transcript Variant: This variant (2) encodes isoform 2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: Y00318.1, J02770.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394634.7/ ENSP00000378130.2
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-85                AC126283.3         70113-70197         c
            86-356              AC126283.3         34752-35022         c
            357-510             AC126283.3         32735-32888         c
            511-686             AC126283.3         29715-29890         c
            687-800             AC126283.3         28721-28834         c
            801-911             AC126283.3         28468-28578         c
            912-932             AC126283.3         25961-25981         c
            933-968             AC126283.3         20666-20701         c
            969-1072            AC126283.3         17697-17800         c
            1073-1176           AC126283.3         17416-17519         c
            1177-1457           AC126283.3         14420-14700         c
            1458-1562           AC126283.3         10689-10793         c
            1563-1978           AC126283.3         8893-9308           c
FEATURES             Location/Qualifiers
     source          1..1978
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..1978
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /note="complement factor I"
                     /db_xref="GeneID:3426"
                     /db_xref="HGNC:HGNC:5394"
                     /db_xref="MIM:217030"
     exon            1..85
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1780
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /EC_number="3.4.21.45"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; C3b-inactivator; Konglutinogen-activating
                     factor; complement factor I heavy chain; complement
                     component I; C3B/C4B inactivator; complement control
                     protein factor I; light chain of factor I"
                     /codon_start=1
                     /product="complement factor I isoform 2 preproprotein"
                     /protein_id="NP_000195.3"
                     /db_xref="CCDS:CCDS34049.1"
                     /db_xref="GeneID:3426"
                     /db_xref="HGNC:HGNC:5394"
                     /db_xref="MIM:217030"
                     /translation="MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCD
                     KVFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLN
                     NGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQ
                     QGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQK
                     ADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQY
                     QCNGEVDCITGEDEVGCAGFASVTQEETEILTADMDAERRRIKSLLPKLSCGVKNRMH
                     IRRKRIVGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQI
                     WTTVVDWIHPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDGNKKDCELPRSI
                     PACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYGNRFYEKEM
                     ECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYTKVANYF
                     DWISYHVGRPFISQYNV"
     exon            86..356
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            357..510
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            511..686
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            687..800
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            801..911
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            912..932
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            933..968
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1072
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1176
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1457
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            1458..1562
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..1978
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1956..1961
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /note="hexamer: AATAAA"
     polyA_site      1978
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /note="major polyA site"
ORIGIN      
        1 agagacaaag accccgaaca cctccaacat gaagcttctt catgttttcc tgttatttct
       61 gtgcttccac ttaaggtttt gcaaggtcac ttatacatct caagaggatc tggtggagaa
      121 aaagtgctta gcaaaaaaat atactcacct ctcctgcgat aaagtcttct gccagccatg
      181 gcagagatgc attgagggca cctgtgtttg taaactaccg tatcagtgcc caaagaatgg
      241 cactgcagtg tgtgcaacta acaggagaag cttcccaaca tactgtcaac aaaagagttt
      301 ggaatgtctt catccaggga caaagttttt aaataacgga acatgcacag ccgaaggaaa
      361 gtttagtgtt tccttgaagc atggaaatac agattcagag ggaatagttg aagtaaaact
      421 tgtggaccaa gataagacaa tgttcatatg caaaagcagc tggagcatga gggaagccaa
      481 cgtggcctgc cttgaccttg ggtttcaaca aggtgctgat actcaaagaa ggtttaagtt
      541 gtctgatctc tctataaatt ccactgaatg tctacatgtg cattgccgag gattagagac
      601 cagtttggct gaatgtactt ttactaagag aagaactatg ggttaccagg atttcgctga
      661 tgtggtttgt tatacacaga aagcagattc tccaatggat gacttctttc agtgtgtgaa
      721 tgggaaatac atttctcaga tgaaagcctg tgatggtatc aatgattgtg gagaccaaag
      781 tgatgaactg tgttgtaaag catgccaagg caaaggcttc cattgcaaat cgggtgtttg
      841 cattccaagc cagtatcaat gcaatggtga ggtggactgc attacagggg aagatgaagt
      901 tggctgtgca ggctttgcat ctgtgactca agaagaaaca gaaattttga ctgctgacat
      961 ggatgcagaa agaagacgga taaaatcatt attacctaaa ctatcttgtg gagttaaaaa
     1021 cagaatgcac attcgaagga aacgaattgt gggaggaaag cgagcacaac tgggagacct
     1081 cccatggcag gtggcaatta aggatgccag tggaatcacc tgtgggggaa tttatattgg
     1141 tggctgttgg attctgactg ctgcacattg tctcagagcc agtaaaactc atcgttacca
     1201 aatatggaca acagtagtag actggataca ccccgacctt aaacgtatag taattgaata
     1261 cgtggataga attattttcc atgaaaacta caatgcaggc acttaccaaa atgacatcgc
     1321 tttgattgaa atgaaaaaag acggaaacaa aaaagattgt gagctgcctc gttccatccc
     1381 tgcctgtgtc ccctggtctc cttacctatt ccaacctaat gatacatgca tcgtttctgg
     1441 ctggggacga gaaaaagata acgaaagagt cttttcactt cagtggggtg aagttaaact
     1501 aataagcaac tgctctaagt tttacggaaa tcgtttctat gaaaaagaaa tggaatgtgc
     1561 aggtacatat gatggttcca tcgatgcctg taaaggggac tctggaggcc ccttagtctg
     1621 tatggatgcc aacaatgtga cttatgtctg gggtgttgtg agttgggggg aaaactgtgg
     1681 aaaaccagag ttcccaggtg tttacaccaa agtggccaat tattttgact ggattagcta
     1741 ccatgtagga aggcctttta tttctcagta caatgtataa aattgtgatc tctctcttca
     1801 ttctattctt tttctctcaa gagttccatt taatggaaat aaaacggtat aattaataat
     1861 tctctagggg ggaaaaatga agcaaatctc actggatatt tttaaaggtc tccacagagt
     1921 ttatgccata ttggaatttt gttgtataat tctcaaataa atattttggt gaagcata
//
