LOCUS       NM_001928               1191 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens complement factor D (CFD), transcript variant 1, mRNA.
ACCESSION   NM_001928
VERSION     NM_001928.4
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 1191)
  AUTHORS   Maity,S.K., Das Sharma,A., Sarkar,J., Chaudhuri,T., Tantia,O. and
            Chakrabarti,P.
  TITLE     Adipose tissue-derived adipsin marks human aging in non-type 2
            diabetes population
  JOURNAL   BMJ Open Diabetes Res Care 12 (4), e004179 (2024)
   PUBMED   39209774
  REMARK    GeneRIF: Adipose tissue-derived adipsin marks human aging in
            non-type 2 diabetes population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1191)
  AUTHORS   Rahman,S., Affleck,A.G. 4th, Ruhl,R.A., Patel,R.K., Gao,L.,
            Brinkerhoff,B.T., Tsikitis,V.L. and Anand,S.
  TITLE     Combinatorial Inhibition of Complement Factor D and BCL2 for
            Early-Onset Colorectal Cancer
  JOURNAL   Dis Colon Rectum 67 (7), 940-950 (2024)
   PUBMED   38479005
  REMARK    GeneRIF: Combinatorial Inhibition of Complement Factor D and BCL2
            for Early-Onset Colorectal Cancer.
REFERENCE   3  (bases 1 to 1191)
  AUTHORS   Dare,A. and Chen,S.Y.
  TITLE     Adipsin in the pathogenesis of cardiovascular diseases
  JOURNAL   Vascul Pharmacol 154, 107270 (2024)
   PUBMED   38114042
  REMARK    GeneRIF: Adipsin in the pathogenesis of cardiovascular diseases.
            Review article
REFERENCE   4  (bases 1 to 1191)
  AUTHORS   Chen,J., Wang,J., Hart,D.A., Zhou,Z., Ackermann,P.W. and Ahmed,A.S.
  TITLE     Complement factor D regulates collagen type I expression and
            fibroblast migration to enhance human tendon repair and healing
            outcomes
  JOURNAL   Front Immunol 14, 1225957 (2023)
   PUBMED   37744351
  REMARK    GeneRIF: Complement factor D regulates collagen type I expression
            and fibroblast migration to enhance human tendon repair and healing
            outcomes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1191)
  AUTHORS   Ricklin,D., Hajishengallis,G., Yang,K. and Lambris,J.D.
  TITLE     Complement: a key system for immune surveillance and homeostasis
  JOURNAL   Nat Immunol 11 (9), 785-797 (2010)
   PUBMED   20720586
  REMARK    Review article
REFERENCE   6  (bases 1 to 1191)
  AUTHORS   Narayana,S.V., Carson,M., el-Kabbani,O., Kilpatrick,J.M., Moore,D.,
            Chen,X., Bugg,C.E., Volanakis,J.E. and DeLucas,L.J.
  TITLE     Structure of human factor D. A complement system protein at 2.0 A
            resolution
  JOURNAL   J Mol Biol 235 (2), 695-708 (1994)
   PUBMED   8289289
REFERENCE   7  (bases 1 to 1191)
  AUTHORS   White,R.T., Damm,D., Hancock,N., Rosen,B.S., Lowell,B.B., Usher,P.,
            Flier,J.S. and Spiegelman,B.M.
  TITLE     Human adipsin is identical to complement factor D and is expressed
            at high levels in adipose tissue
  JOURNAL   J Biol Chem 267 (13), 9210-9213 (1992)
   PUBMED   1374388
REFERENCE   8  (bases 1 to 1191)
  AUTHORS   Johnson,D.M., Gagnon,J. and Reid,K.B.
  TITLE     Amino acid sequence of human factor D of the complement system.
            Similarity in sequence between factor D and proteases of non-plasma
            origin
  JOURNAL   FEBS Lett 166 (2), 347-351 (1984)
   PUBMED   6363133
REFERENCE   9  (bases 1 to 1191)
  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   10 (bases 1 to 1191)
  AUTHORS   Hobart,M.J. and Lachmann,P.J.
  TITLE     Allotypes of complement components in man
  JOURNAL   Transplant Rev 32, 26-42 (1976)
   PUBMED   824769
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY087483.1, BC057807.1,
            HY281047.1, M84526.1 and AC112706.2.
            
            On May 17, 2019 this sequence version replaced NM_001928.3.
            
            Summary: This gene encodes a member of the S1, or chymotrypsin,
            family of serine peptidases. This protease catalyzes the cleavage
            of factor B, the rate-limiting step of the alternative pathway of
            complement activation. This protein also functions as an adipokine,
            a cell signaling protein secreted by adipocytes, which regulates
            insulin secretion in mice. Mutations in this gene underlie
            complement factor D deficiency, which is associated with recurrent
            bacterial meningitis infections in human patients. Alternative
            splicing of this gene results in multiple transcript variants. At
            least one of these variants encodes a preproprotein that is
            proteolytically processed to generate the mature protease.
            [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter isoform (1).
            
            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 :: AK300963.1, DRR138524.963562.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327726.11/ ENSP00000332139.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 HY087483.1         7-7
            2-838               BC057807.1         6-842
            839-1007            HY281047.1         1-169               c
            1008-1119           M84526.1           960-1071
            1120-1191           AC112706.2         16603-16674
FEATURES             Location/Qualifiers
     source          1..1191
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1191
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
                     /note="complement factor D"
                     /db_xref="GeneID:1675"
                     /db_xref="HGNC:HGNC:2771"
                     /db_xref="MIM:134350"
     exon            1..81
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..788
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
                     /EC_number="3.4.21.46"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; D component of complement (adipsin); properdin
                     factor D; C3 convertase activator; complement factor D
                     preproprotein"
                     /codon_start=1
                     /product="complement factor D isoform 1 preproprotein"
                     /protein_id="NP_001919.2"
                     /db_xref="CCDS:CCDS12046.1"
                     /db_xref="GeneID:1675"
                     /db_xref="HGNC:HGNC:2771"
                     /db_xref="MIM:134350"
                     /translation="MHSWERLAVLVLLGAAACAAPPRGRILGGREAEAHARPYMASVQ
                     LNGAHLCGGVLVAEQWVLSAAHCLEDAADGKVQVLLGAHSLSQPEPSKRLYDVLRAVP
                     HPDSQPDTIDHDLLLLQLSEKATLGPAVRPLPWQRVDRDVAPGTLCDVAGWGIVNHAG
                     RRPDSLQHVLLPVLDRATCNRRTHHDGAITERLMCAESNRRDSCKGDSGGPLVCGGVL
                     EGVVTSGSRVCGNRKKPGIYTRVASYAAWIDSVLA"
     exon            82..238
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
                     /inference="alignment:Splign:2.1.0"
     exon            239..383
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
                     /inference="alignment:Splign:2.1.0"
     exon            384..641
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
                     /inference="alignment:Splign:2.1.0"
     exon            642..1191
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      838..843
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
                     /note="hexamer: AATGAA"
     polyA_site      859
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
     regulatory      983..988
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
                     /note="hexamer: AATAAA"
     polyA_site      1003
                     /gene="CFD"
                     /gene_synonym="ADIPSIN; ADN; DF; PFD"
                     /note="major polyA site"
ORIGIN      
        1 agtgtctcag ccacagcggc ttcaccatgc acagctggga gcgcctggca gttctggtcc
       61 tcctaggagc ggccgcctgc gcggcgccgc cccgtggtcg gatcctgggc ggcagagagg
      121 ccgaggcgca cgcgcggccc tacatggcgt cggtgcagct gaacggcgcg cacctgtgcg
      181 gcggcgtcct ggtggcggag cagtgggtgc tgagcgcggc gcactgcctg gaggacgcgg
      241 ccgacgggaa ggtgcaggtt ctcctgggcg cgcactccct gtcgcagccg gagccctcca
      301 agcgcctgta cgacgtgctc cgcgcagtgc cccacccgga cagccagccc gacaccatcg
      361 accacgacct cctgctgcta cagctgtcgg agaaggccac actgggccct gctgtgcgcc
      421 ccctgccctg gcagcgcgtg gaccgcgacg tggcaccggg aactctctgc gacgtggccg
      481 gctggggcat agtcaaccac gcgggccgcc gcccggacag cctgcagcac gtgctcttgc
      541 cagtgctgga ccgcgccacc tgcaaccggc gcacgcacca cgacggcgcc atcaccgagc
      601 gcttgatgtg cgcggagagc aatcgccggg acagctgcaa gggtgactcc gggggcccgc
      661 tggtgtgcgg gggcgtgctc gagggcgtgg tcacctcggg ctcgcgcgtt tgcggcaacc
      721 gcaagaagcc cgggatctac acccgcgtgg cgagctatgc ggcctggatc gacagcgtcc
      781 tggcctaggg tgccggggcc tgaaggtcag ggtcacccaa gcaacaaagt cccgagcaat
      841 gaagtcatcc actcctgcat ctggttggtc tttattgagc acctactata tgcagaaggg
      901 gaggccgagg tgggaggatc attggatctc aggagttcga gatcagcatg ggccacgtag
      961 cgcgactcca tctctacaaa taaataaaaa attagctggg caattggcgg gcatggaggt
     1021 gggtgcttgt agttccagct actcaggagg ctgaggtggg aggatgactt gaacgcagga
     1081 ggctgaggct gcagtgagtt gtgattgcac cactgccctc cagcctgggc aacagagtga
     1141 aaccttgtct ctctctacaa aaaaaaaaaa aaaattctgc gtggtggctc a
//
