LOCUS       NM_015991               1091 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens complement C1q A chain (C1QA), transcript variant 1,
            mRNA.
ACCESSION   NM_015991
VERSION     NM_015991.4
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 1091)
  AUTHORS   Cui,H.K., Tang,C.J., Gao,Y., Li,Z.A., Zhang,J. and Li,Y.D.
  TITLE     An integrative analysis of single-cell and bulk transcriptome and
            bidirectional mendelian randomization analysis identified C1Q as a
            novel stimulated risk gene for Atherosclerosis
  JOURNAL   Front Immunol 14, 1289223 (2023)
   PUBMED   38179058
  REMARK    GeneRIF: An integrative analysis of single-cell and bulk
            transcriptome and bidirectional mendelian randomization analysis
            identified C1Q as a novel stimulated risk gene for Atherosclerosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1091)
  AUTHORS   Schulz,K., Donat,C., Punjabi,M., Glatz,K., Kaufmann,B. and
            Trendelenburg,M.
  TITLE     Complement C1q and von Willebrand factor interaction in
            atherosclerosis of human carotid artery
  JOURNAL   Front Immunol 14, 1265387 (2023)
   PUBMED   38155969
  REMARK    GeneRIF: Complement C1q and von Willebrand factor interaction in
            atherosclerosis of human carotid artery.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1091)
  AUTHORS   Hu,Z.P., Wu,F., Du,Y.H. and Ye,M.
  TITLE     Association between serum complement 1q and the associated factors
            of acute ischemic stroke in patients with type 2 diabetes
  JOURNAL   Hum Exp Toxicol 42, 9603271231188291 (2023)
   PUBMED   37550830
  REMARK    GeneRIF: Association between serum complement 1q and the associated
            factors of acute ischemic stroke in patients with type 2 diabetes.
REFERENCE   4  (bases 1 to 1091)
  AUTHORS   Son,M., Diamond,B. and Santiago-Schwarz,F.
  TITLE     Fundamental role of C1q in autoimmunity and inflammation
  JOURNAL   Immunol Res 63 (1-3), 101-106 (2015)
   PUBMED   26410546
  REMARK    Review article
REFERENCE   5  (bases 1 to 1091)
  AUTHORS   Kouser,L., Madhukaran,S.P., Shastri,A., Saraon,A., Ferluga,J.,
            Al-Mozaini,M. and Kishore,U.
  TITLE     Emerging and Novel Functions of Complement Protein C1q
  JOURNAL   Front Immunol 6, 317 (2015)
   PUBMED   26175731
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1091)
  AUTHORS   Sellar,G.C., Cockburn,D. and Reid,K.B.
  TITLE     Localization of the gene cluster encoding the A, B, and C chains of
            human C1q to 1p34.1-1p36.3
  JOURNAL   Immunogenetics 35 (3), 214-216 (1992)
   PUBMED   1537612
REFERENCE   7  (bases 1 to 1091)
  AUTHORS   Sellar,G.C., Blake,D.J. and Reid,K.B.
  TITLE     Characterization and organization of the genes encoding the A-, B-
            and C-chains of human complement subcomponent C1q. The complete
            derived amino acid sequence of human C1q
  JOURNAL   Biochem J 274 (Pt 2) (Pt 2), 481-490 (1991)
   PUBMED   1706597
REFERENCE   8  (bases 1 to 1091)
  AUTHORS   Reid,K.B.
  TITLE     Complete amino acid sequences of the three collagen-like regions
            present in subcomponent C1q of the first component of human
            complement
  JOURNAL   Biochem J 179 (2), 367-371 (1979)
   PUBMED   486087
REFERENCE   9  (bases 1 to 1091)
  AUTHORS   Reid,K.B.
  TITLE     Isolation, by partial pepsin digestion, of the three collagen-like
            regions present in subcomponent Clq of the first component of human
            complement
  JOURNAL   Biochem J 155 (1), 5-17 (1976)
   PUBMED   7240
REFERENCE   10 (bases 1 to 1091)
  AUTHORS   Ziccardi,R.J. and Cooper,N.R.
  TITLE     Physicochemical and functional characterization of the C1r subunit
            of the first complement component
  JOURNAL   J Immunol 116 (2), 496-503 (1976)
   PUBMED   814163
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG548439.1, BC030153.2,
            BC071986.1 and BX369252.2.
            
            On Nov 22, 2018 this sequence version replaced NM_015991.3.
            
            Summary: This gene encodes the A-chain polypeptide of serum
            complement subcomponent C1q, which associates with C1r and C1s to
            yield the first component of the serum complement system. C1q
            deficiency is associated with lupus erythematosus and
            glomerulonephritis. C1q is composed of 18 polypeptide chains which
            include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains
            an N-terminal collagen-like region and a C-terminal C1q globular
            domain. Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Nov 2016].
            
            Transcript Variant: This variant (1) uses an alternate splice site
            in the 5' UTR, compared to variant (2). Variants 1-3 encode the
            same protein.
            
            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 :: BC030153.2, ERR279834.4876.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374642.8/ ENSP00000363773.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                BG548439.1         5-31
            28-357              BC030153.2         1-330
            358-1021            BC071986.1         297-960
            1022-1091           BX369252.2         64-133
FEATURES             Location/Qualifiers
     source          1..1091
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..1091
                     /gene="C1QA"
                     /gene_synonym="C1QD1"
                     /note="complement C1q A chain"
                     /db_xref="GeneID:712"
                     /db_xref="HGNC:HGNC:1241"
                     /db_xref="MIM:120550"
     exon            1..75
                     /gene="C1QA"
                     /gene_synonym="C1QD1"
                     /inference="alignment:Splign:2.1.0"
     exon            76..245
                     /gene="C1QA"
                     /gene_synonym="C1QD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..820
                     /gene="C1QA"
                     /gene_synonym="C1QD1"
                     /note="complement component C1q, A chain; complement
                     component 1, q subcomponent, alpha polypeptide; complement
                     C1q subcomponent subunit A; complement component 1, q
                     subcomponent, A chain; complement C1q chain A"
                     /codon_start=1
                     /product="complement C1q subcomponent subunit A precursor"
                     /protein_id="NP_057075.1"
                     /db_xref="CCDS:CCDS226.1"
                     /db_xref="GeneID:712"
                     /db_xref="HGNC:HGNC:1241"
                     /db_xref="MIM:120550"
                     /translation="MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGR
                     PGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPGKVGYPGPSGPLGARGIPGIKGT
                     KGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYY
                     FTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVE
                     KDPKKGHIYQGSEADSVFSGFLIFPSA"
     exon            246..1091
                     /gene="C1QA"
                     /gene_synonym="C1QD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      993..998
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1QA"
                     /gene_synonym="C1QD1"
                     /note="hexamer: AATAAA"
     polyA_site      1021
                     /gene="C1QA"
                     /gene_synonym="C1QD1"
                     /note="major polyA site"
     regulatory      1067..1072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1QA"
                     /gene_synonym="C1QD1"
                     /note="hexamer: AATAAT"
     polyA_site      1091
                     /gene="C1QA"
                     /gene_synonym="C1QD1"
ORIGIN      
        1 actcctgctg ggcagcccac agggtccctg ggcggagggc aggagcatcc agttggagtt
       61 gacaacagga ggcagaggca tcatggaggg tccccgggga tggctggtgc tctgtgtgct
      121 ggccatatcg ctggcctcta tggtgaccga ggacttgtgc cgagcaccag acgggaagaa
      181 aggggaggca ggaagacctg gcagacgggg gcggccaggc ctcaaggggg agcaagggga
      241 gccgggggcc cctggcatcc ggacaggcat ccaaggcctt aaaggagacc agggggaacc
      301 tgggccctct ggaaaccccg gcaaggtggg ctacccaggg cccagcggcc ccctcggagc
      361 ccgtggcatc ccgggaatta aaggcaccaa gggcagccca ggaaacatca aggaccagcc
      421 gaggccagcc ttctccgcca ttcggcggaa ccccccaatg gggggcaacg tggtcatctt
      481 cgacacggtc atcaccaacc aggaagaacc gtaccagaac cactccggcc gattcgtctg
      541 cactgtaccc ggctactact acttcacctt ccaggtgctg tcccagtggg aaatctgcct
      601 gtccatcgtc tcctcctcaa ggggccaggt ccgacgctcc ctgggcttct gtgacaccac
      661 caacaagggg ctcttccagg tggtgtcagg gggcatggtg cttcagctgc agcagggtga
      721 ccaggtctgg gttgaaaaag accccaaaaa gggtcacatt taccagggct ctgaggccga
      781 cagcgtcttc agcggcttcc tcatcttccc atctgcctga gccagggaag gaccccctcc
      841 cccacccacc tctctggctt ccatgctccg cctgtaaaat gggggcgcta ttgcttcagc
      901 tgctgaaggg agggggctgg ctctgagagc cccaggactg gctgccccgt gacacatgct
      961 ctaagaagct cgtttcttag acctcttcct ggaataaaca tctgtgtctg tgtctgctga
     1021 acatgagctt cagttgctac tcggagcatt gagagggagg cctaagaata ataacaatcc
     1081 agtgcttaag a
//
