LOCUS       NM_172351               3320 bp    mRNA    linear   PRI 24-NOV-2024
DEFINITION  Homo sapiens CD46 molecule (CD46), transcript variant c, mRNA.
ACCESSION   NM_172351
VERSION     NM_172351.3
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 3320)
  AUTHORS   Grodstein,F., Lemos,B., Yang,J., de Paiva Lopes,K., Vialle,R.A.,
            Seyfried,N., Wang,Y., Shireby,G., Hannon,E., Thomas,A., Brookes,K.,
            Mill,J., De Jager,P.L. and Bennett,D.A.
  TITLE     Genetic architecture of epigenetic cortical clock age in brain
            tissue from older individuals: alterations in CD46 and other loci
  JOURNAL   Epigenetics 19 (1), 2392050 (2024)
   PUBMED   39169872
  REMARK    GeneRIF: Genetic architecture of epigenetic cortical clock age in
            brain tissue from older individuals: alterations in CD46 and other
            loci.
REFERENCE   2  (bases 1 to 3320)
  AUTHORS   Thi,T.N., Thanh,H.D., Nguyen,V.T., Kwon,S.Y., Moon,C., Hwang,E.C.
            and Jung,C.
  TITLE     Complement regulatory protein CD46 promotes bladder cancer
            metastasis through activation of MMP9
  JOURNAL   Int J Oncol 65 (1) (2024)
   PUBMED   38847230
  REMARK    GeneRIF: Complement regulatory protein CD46 promotes bladder cancer
            metastasis through activation of MMP9.
REFERENCE   3  (bases 1 to 3320)
  AUTHORS   Vassiliev,P., Gusev,E., Komelkova,M., Kochetkov,A., Dobrynina,M.
            and Sarapultsev,A.
  TITLE     Computational Analysis of CD46 Protein Interaction with SARS-CoV-2
            Structural Proteins: Elucidating a Putative Viral Entry Mechanism
            into Human Cells
  JOURNAL   Viruses 15 (12), 2297 (2023)
   PUBMED   38140538
  REMARK    GeneRIF: Computational Analysis of CD46 Protein Interaction with
            SARS-CoV-2 Structural Proteins: Elucidating a Putative Viral Entry
            Mechanism into Human Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3320)
  AUTHORS   Richards,A., Kemp,E.J., Liszewski,M.K., Goodship,J.A., Lampe,A.K.,
            Decorte,R., Muslumanoglu,M.H., Kavukcu,S., Filler,G., Pirson,Y.,
            Wen,L.S., Atkinson,J.P. and Goodship,T.H.
  TITLE     Mutations in human complement regulator, membrane cofactor protein
            (CD46), predispose to development of familial hemolytic uremic
            syndrome
  JOURNAL   Proc Natl Acad Sci U S A 100 (22), 12966-12971 (2003)
   PUBMED   14566051
  REMARK    GeneRIF: Mutations predispose to development of familial hemolytic
            uremic syndrome.
REFERENCE   5  (bases 1 to 3320)
  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 3320)
  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 3320)
  AUTHORS   Russell,S.M., Sparrow,R.L., McKenzie,I.F. and Purcell,D.F.
  TITLE     Tissue-specific and allelic expression of the complement regulator
            CD46 is controlled by alternative splicing
  JOURNAL   Eur J Immunol 22 (6), 1513-1518 (1992)
   PUBMED   1601037
REFERENCE   8  (bases 1 to 3320)
  AUTHORS   Adams,E.M., Brown,M.C., Nunge,M., Krych,M. and Atkinson,J.P.
  TITLE     Contribution of the repeating domains of membrane cofactor protein
            (CD46) of the complement system to ligand binding and cofactor
            activity
  JOURNAL   J Immunol 147 (9), 3005-3011 (1991)
   PUBMED   1717583
REFERENCE   9  (bases 1 to 3320)
  AUTHORS   Post,T.W., Liszewski,M.K., Adams,E.M., Tedja,I., Miller,E.A. and
            Atkinson,J.P.
  TITLE     Membrane cofactor protein of the complement system: alternative
            splicing of serine/threonine/proline-rich exons and cytoplasmic
            tails produces multiple isoforms that correlate with protein
            phenotype
  JOURNAL   J Exp Med 174 (1), 93-102 (1991)
   PUBMED   1711570
REFERENCE   10 (bases 1 to 3320)
  AUTHORS   Lublin,D.M., Liszewski,M.K., Post,T.W., Arce,M.A., Le Beau,M.M.,
            Rebentisch,M.B., Lemons,L.S., Seya,T. and Atkinson,J.P.
  TITLE     Molecular cloning and chromosomal localization of human membrane
            cofactor protein (MCP). Evidence for inclusion in the multigene
            family of complement-regulatory proteins
  JOURNAL   J Exp Med 168 (1), 181-194 (1988)
   PUBMED   3260937
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB078198.1 and X59405.1.
            
            On Jun 2, 2019 this sequence version replaced NM_172351.2.
            
            Summary: The protein encoded by this gene is a type I membrane
            protein and is a regulatory part of the complement system. The
            encoded protein has cofactor activity for inactivation of
            complement components C3b and C4b by serum factor I, which protects
            the host cell from damage by complement. In addition, the encoded
            protein can act as a receptor for the Edmonston strain of measles
            virus, human herpesvirus-6, and type IV pili of pathogenic
            Neisseria. Finally, the protein encoded by this gene may be
            involved in the fusion of the spermatozoa with the oocyte during
            fertilization. Mutations at this locus have been associated with
            susceptibility to hemolytic uremic syndrome. Alternatively spliced
            transcript variants encoding different isoforms have been
            described. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (c) lacks an alternate in-frame
            exon compared to variant a, resulting in a shorter isoform (3)
            compared to 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 :: X59405.1, SRR11853558.2304.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367042.6/ ENSP00000356009.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DB078198.1         17-30
            15-3320             X59405.1           1-3306
FEATURES             Location/Qualifiers
     source          1..3320
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2"
     gene            1..3320
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /note="CD46 molecule"
                     /db_xref="GeneID:4179"
                     /db_xref="HGNC:HGNC:6953"
                     /db_xref="MIM:120920"
     exon            1..256
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     CDS             160..1293
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /note="isoform 3 precursor is encoded by transcript
                     variant c; CD46 antigen, complement regulatory protein;
                     membrane cofactor protein (CD46, trophoblast-lymphocyte
                     cross-reactive antigen); complement membrane cofactor
                     protein; measles virus receptor; trophoblast leucocyte
                     common antigen; antigen identified by monoclonal antibody
                     TRA-2-10; trophoblast leukocyte common antigen; CD46
                     molecule, complement regulatory protein"
                     /codon_start=1
                     /product="membrane cofactor protein isoform 3 precursor"
                     /protein_id="NP_758861.1"
                     /db_xref="CCDS:CCDS31008.1"
                     /db_xref="GeneID:4179"
                     /db_xref="HGNC:HGNC:6953"
                     /db_xref="MIM:120920"
                     /translation="MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAM
                     ELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYI
                     RDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV
                     LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSR
                     AAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTW
                     DPPVPKCLKVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAV
                     IVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL"
     exon            257..445
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            446..548
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            549..634
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            635..832
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            833..1015
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1060
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1102
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1141
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1177
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1241
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            1242..1334
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     exon            1335..3320
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3301..3306
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /note="hexamer: AATAAA"
     polyA_site      3320
                     /gene="CD46"
                     /gene_synonym="AHUS2; MCP; MIC10; TLX; TRA2.10"
                     /note="major polyA site"
ORIGIN      
        1 gcggctcggg ccacgcccac ctgtcctgca gcactggatg ctttgtgagt tggggattgt
       61 tgcgtcccat atctggaccc agaagggact tccctgctcg gctggctctc ggtttctctg
      121 ctttcctccg gagaaataac agcgtcttcc gcgccgcgca tggagcctcc cggccgccgc
      181 gagtgtccct ttccttcctg gcgctttcct gggttgcttc tggcggccat ggtgttgctg
      241 ctgtactcct tctccgatgc ctgtgaggag ccaccaacat ttgaagctat ggagctcatt
      301 ggtaaaccaa aaccctacta tgagattggt gaacgagtag attataagtg taaaaaagga
      361 tacttctata tacctcctct tgccacccat actatttgtg atcggaatca tacatggcta
      421 cctgtctcag atgacgcctg ttatagagaa acatgtccat atatacggga tcctttaaat
      481 ggccaagcag tccctgcaaa tgggacttac gagtttggtt atcagatgca ctttatttgt
      541 aatgagggtt attacttaat tggtgaagaa attctatatt gtgaacttaa aggatcagta
      601 gcaatttgga gcggtaagcc cccaatatgt gaaaaggttt tgtgtacacc acctccaaaa
      661 ataaaaaatg gaaaacacac ctttagtgaa gtagaagtat ttgagtatct tgatgcagta
      721 acttatagtt gtgatcctgc acctggacca gatccatttt cacttattgg agagagcacg
      781 atttattgtg gtgacaattc agtgtggagt cgtgctgctc cagagtgtaa agtggtcaaa
      841 tgtcgatttc cagtagtcga aaatggaaaa cagatatcag gatttggaaa aaaattttac
      901 tacaaagcaa cagttatgtt tgaatgcgat aagggttttt acctcgatgg cagcgacaca
      961 attgtctgtg acagtaacag tacttgggat cccccagttc caaagtgtct taaagtgtcg
     1021 acttcttcca ctacaaaatc tccagcgtcc agtgcctcag gtcctaggcc tacttacaag
     1081 cctccagtct caaattatcc aggatatcct aaacctgagg aaggaatact tgacagtttg
     1141 gatgtttggg tcattgctgt gattgttatt gccatagttg ttggagttgc agtaatttgt
     1201 gttgtcccgt acagatatct tcaaaggagg aagaagaaag gcacatacct aactgatgag
     1261 acccacagag aagtaaaatt tacttctctc tgagaaggag agatgagaga aaggtttgct
     1321 tttatcatta aaaggaaagc agatggtgga gctgaatatg ccacttacca gactaaatca
     1381 accactccag cagagcagag aggctgaata gattccacaa cctggtttgc cagttcatct
     1441 tttgactcta ttaaaatctt caatagttgt tattctgtag tttcactctc atgagtgcaa
     1501 ctgtggctta gctaatattg caatgtggct tgaatgtagg tagcatcctt tgatgcttct
     1561 ttgaaacttg tatgaatttg ggtatgaaca gattgcctgc tttcccttaa ataacactta
     1621 gatttattgg accagtcagc acagcatgcc tggttgtatt aaagcaggga tatgctgtat
     1681 tttataaaat tggcaaaatt agagaaatat agttcacaat gaaattatat tttctttgta
     1741 aagaaagtgg cttgaaatct tttttgttca aagattaatg ccaactctta agattattct
     1801 ttcaccaact atagaatgta ttttatatat cgttcattgt aaaaagccct taaaaatatg
     1861 tgtatactac tttggctctt gtgcataaaa acaagaacac tgaaaattgg gaatatgcac
     1921 aaacttggct tctttaacca agaatattat tggaaaattc tctaaaagtt aatagggtaa
     1981 attctctatt ttttgtaatg tgttcggtga tttcagaaag ctagaaagtg tatgtgtggc
     2041 atttgttttc actttttaaa acatccctaa ctgatcgaat atatcagtaa tttcagaatc
     2101 agatgcatcc tttcataaga agtgagagga ctctgacagc cataacagga gtgccacttc
     2161 atggtgcgaa gtgaacactg tagtcttgtt gttttcccaa agagaactcc gtatgttctc
     2221 ttaggttgag taacccactc tgaattctgg ttacatgtgt ttttctctcc ctccttaaat
     2281 aaagagaggg gttaaacatg ccctctaaaa gtaggtggtt ttgaagagaa taaattcatc
     2341 agataacctc aagtcacatg agaatcttag tccatttaca ttgccttggc tagtaaaagc
     2401 catctatgta tatgtcttac ctcatctcct aaaaggcaga gtacaaagta agccatgtat
     2461 ctcaggaagg taacttcatt ttgtctattt gctgttgatt gtaccaaggg atggaagaag
     2521 taaatatagc tcaggtagca ctttatactc aggcagatct cagccctcta ctgagtccct
     2581 tagccaagca gtttctttca aagaagccag caggcgaaaa gcagggactg ccactgcatt
     2641 tcatatcaca ctgttaaaag ttgtgttttg aaattttatg tttagttgca caaattgggc
     2701 caaagaaaca ttgccttgag gaagatatga ttggaaaatc aagagtgtag aagaataaat
     2761 actgttttac tgtccaaaga catgtttata gtgctctgta aatgttcctt tcctttgtag
     2821 tctctggcaa gatgctttag gaagataaaa gtttgaggag aacaaacagg aattctgaat
     2881 taagcacaga gttgaagttt atacccgttt cacatgcttt tcaagaatgt cgcaattact
     2941 aagaagcaga taatggtgtt ttttagaaac ctaattgaag tatattcaac caaatacttt
     3001 aatgtataaa ataaatatta tacaatatac ttgtatagca gtttctgctt cacatttgat
     3061 tttttcaaat ttaatattta tattagagat ctatatatgt ataaatatgt attttgtcaa
     3121 atttgttact taaatatata gagaccagtt ttctctggaa gtttgtttaa atgacagaag
     3181 cgtatatgaa ttcaagaaaa tttaagctgc aaaaatgtat ttgctataaa atgagaagtc
     3241 tcactgatag aggttcttta ttgctcattt tttaaaaaat ggactcttga aatctgttaa
     3301 aataaaattg tacatttgga
//
