LOCUS       NM_000074               1852 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens CD40 ligand (CD40LG), mRNA.
ACCESSION   NM_000074
VERSION     NM_000074.3
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 1852)
  AUTHORS   Allard,C.C., Salti,S., Mourad,W. and Hassan,G.S.
  TITLE     Implications of CD154 and Its Receptors in the Pathogenesis and
            Treatment of Systemic Lupus Erythematosus
  JOURNAL   Cells 13 (19), 1621 (2024)
   PUBMED   39404385
  REMARK    GeneRIF: Implications of CD154 and Its Receptors in the
            Pathogenesis and Treatment of Systemic Lupus Erythematosus.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1852)
  AUTHORS   Guo,M., Ma,Y., Cai,K., Liu,X., Liu,W., Wang,F., Qu,N. and Liu,S.
  TITLE     A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes
            and compound heterozygous DOCK8 mutations of hyper IgE syndromes in
            two Chinese families
  JOURNAL   Immunogenetics 76 (3), 165-173 (2024)
   PUBMED   38587548
  REMARK    GeneRIF: A novel hemizygous CD40L mutation of X-linked hyper IgM
            syndromes and compound heterozygous DOCK8 mutations of hyper IgE
            syndromes in two Chinese families.
REFERENCE   3  (bases 1 to 1852)
  AUTHORS   Pazhanisamy,A., Jorge,S.D., Zimmermann,M.T., Kitcharoensakkul,M.,
            Abdalgani,M., Khojah,A., Victor,C., Rueda,C., Urrutia,R. and
            Abraham,R.S.
  TITLE     Advanced computational analysis of CD40LG variants in atypical
            X-linked hyper-IgM syndrome
  JOURNAL   Clin Immunol 253, 109692 (2023)
   PUBMED   37433422
  REMARK    GeneRIF: Advanced computational analysis of CD40LG variants in
            atypical X-linked hyper-IgM syndrome.
REFERENCE   4  (bases 1 to 1852)
  AUTHORS   Fan,H., Huang,L., Yang,D., Zhang,C., Zeng,Q., Yin,G., Lu,G. and
            Shen,K.
  TITLE     Respiratory infections in X-linked hyper-IgM syndrome with CD40LG
            mutation: a case series of seven children in China
  JOURNAL   BMC Pediatr 22 (1), 675 (2022)
   PUBMED   36419145
  REMARK    GeneRIF: Respiratory infections in X-linked hyper-IgM syndrome with
            CD40LG mutation: a case series of seven children in China.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1852)
  AUTHORS   Marsman,C., Verstegen,N.J., Streutker,M., Jorritsma,T., Boon,L.,
            Ten Brinke,A. and van Ham,S.M.
  TITLE     Termination of CD40L co-stimulation promotes human B cell
            differentiation into antibody-secreting cells
  JOURNAL   Eur J Immunol 52 (10), 1662-1675 (2022)
   PUBMED   36073009
  REMARK    GeneRIF: Termination of CD40L co-stimulation promotes human B cell
            differentiation into antibody-secreting cells.
REFERENCE   6  (bases 1 to 1852)
  AUTHORS   Dunn,C.P. and de la Morena,M.T.
  TITLE     X-Linked Hyper IgM Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301576
REFERENCE   7  (bases 1 to 1852)
  AUTHORS   Spriggs,M.K., Armitage,R.J., Strockbine,L., Clifford,K.N.,
            Macduff,B.M., Sato,T.A., Maliszewski,C.R. and Fanslow,W.C.
  TITLE     Recombinant human CD40 ligand stimulates B cell proliferation and
            immunoglobulin E secretion
  JOURNAL   J Exp Med 176 (6), 1543-1550 (1992)
   PUBMED   1281209
REFERENCE   8  (bases 1 to 1852)
  AUTHORS   Hollenbaugh,D., Grosmaire,L.S., Kullas,C.D., Chalupny,N.J.,
            Braesch-Andersen,S., Noelle,R.J., Stamenkovic,I., Ledbetter,J.A.
            and Aruffo,A.
  TITLE     The human T cell antigen gp39, a member of the TNF gene family, is
            a ligand for the CD40 receptor: expression of a soluble form of
            gp39 with B cell co-stimulatory activity
  JOURNAL   EMBO J 11 (12), 4313-4321 (1992)
   PUBMED   1385114
REFERENCE   9  (bases 1 to 1852)
  AUTHORS   Graf,D., Korthauer,U., Mages,H.W., Senger,G. and Kroczek,R.A.
  TITLE     Cloning of TRAP, a ligand for CD40 on human T cells
  JOURNAL   Eur J Immunol 22 (12), 3191-3194 (1992)
   PUBMED   1280226
REFERENCE   10 (bases 1 to 1852)
  AUTHORS   Padayachee,M., Feighery,C., Finn,A., McKeown,C., Levinsky,R.J.,
            Kinnon,C. and Malcolm,S.
  TITLE     Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26
            by close linkage to HPRT
  JOURNAL   Genomics 14 (2), 551-553 (1992)
   PUBMED   1427881
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL135783.6, BC071754.1 and
            X67878.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000074.2.
            
            Summary: The protein encoded by this gene is expressed on the
            surface of T cells. It regulates B cell function by engaging CD40
            on the B cell surface. A defect in this gene results in an
            inability to undergo immunoglobulin class switch and is associated
            with hyper-IgM syndrome. [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 :: BC071754.1, L07414.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370629.7/ ENSP00000359663.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AL135783.6         48414-48432
            20-1394             BC071754.1         1-1375
            1395-1618           X67878.1           1349-1572
            1619-1852           BC071754.1         1596-1829
FEATURES             Location/Qualifiers
     source          1..1852
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..1852
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="CD40 ligand"
                     /db_xref="GeneID:959"
                     /db_xref="HGNC:HGNC:11935"
                     /db_xref="MIM:300386"
     exon            1..247
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..877
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="tumor necrosis factor (ligand) superfamily member
                     5; CD40 antigen ligand; T-B cell-activating molecule;
                     TNF-related activation protein; CD40-L; T-cell antigen
                     Gp39"
                     /codon_start=1
                     /product="CD40 ligand"
                     /protein_id="NP_000065.1"
                     /db_xref="CCDS:CCDS14659.1"
                     /db_xref="GeneID:959"
                     /db_xref="HGNC:HGNC:11935"
                     /db_xref="MIM:300386"
                     /translation="MIETYNQTSPRSAATGLPISMKIFMYLLTVFLITQMIGSALFAV
                     YLHRRLDKIEDERNLHEDFVFMKTIQRCNTGERSLSLLNCEEIKSQFEGFVKDIMLNK
                     EETKKENSFEMQKGDQNPQIAAHVISEASSKTTSVLQWAEKGYYTMSNNLVTLENGKQ
                     LTVKRQGLYYIYAQVTFCSNREASSQAPFIASLCLKSPGRFERILLRAANTHSSAKPC
                     GQQSIHLGGVFELQPGASVFVNVTDPSQVSHGTGFTSFGLLKL"
     exon            248..379
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            380..437
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            438..500
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            501..1852
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1177..1182
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="hexamer: AGTAAA"
     polyA_site      1200
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="major polyA site"
     regulatory      1832..1837
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="hexamer: AATAAA"
     polyA_site      1852
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="major polyA site"
ORIGIN      
        1 aatcctgagt aaggtggcca ctttgacagt cttctcatgc tgcctctgcc accttctctg
       61 ccagaagata ccatttcaac tttaacacag catgatcgaa acatacaacc aaacttctcc
      121 ccgatctgcg gccactggac tgcccatcag catgaaaatt tttatgtatt tacttactgt
      181 ttttcttatc acccagatga ttgggtcagc actttttgct gtgtatcttc atagaaggtt
      241 ggacaagata gaagatgaaa ggaatcttca tgaagatttt gtattcatga aaacgataca
      301 gagatgcaac acaggagaaa gatccttatc cttactgaac tgtgaggaga ttaaaagcca
      361 gtttgaaggc tttgtgaagg atataatgtt aaacaaagag gagacgaaga aagaaaacag
      421 ctttgaaatg caaaaaggtg atcagaatcc tcaaattgcg gcacatgtca taagtgaggc
      481 cagcagtaaa acaacatctg tgttacagtg ggctgaaaaa ggatactaca ccatgagcaa
      541 caacttggta accctggaaa atgggaaaca gctgaccgtt aaaagacaag gactctatta
      601 tatctatgcc caagtcacct tctgttccaa tcgggaagct tcgagtcaag ctccatttat
      661 agccagcctc tgcctaaagt cccccggtag attcgagaga atcttactca gagctgcaaa
      721 tacccacagt tccgccaaac cttgcgggca acaatccatt cacttgggag gagtatttga
      781 attgcaacca ggtgcttcgg tgtttgtcaa tgtgactgat ccaagccaag tgagccatgg
      841 cactggcttc acgtcctttg gcttactcaa actctgaaca gtgtcacctt gcaggctgtg
      901 gtggagctga cgctgggagt cttcataata cagcacagcg gttaagccca ccccctgtta
      961 actgcctatt tataacccta ggatcctcct tatggagaac tatttattat acactccaag
     1021 gcatgtagaa ctgtaataag tgaattacag gtcacatgaa accaaaacgg gccctgctcc
     1081 ataagagctt atatatctga agcagcaacc ccactgatgc agacatccag agagtcctat
     1141 gaaaagacaa ggccattatg cacaggttga attctgagta aacagcagat aacttgccaa
     1201 gttcagtttt gtttctttgc gtgcagtgtc tttccatgga taatgcattt gatttatcag
     1261 tgaagatgca gaagggaaat ggggagcctc agctcacatt cagttatggt tgactctggg
     1321 ttcctatggc cttgttggag ggggccaggc tctagaacgt ctaacacagt ggagaaccga
     1381 aacccccccc ccccccccgc caccctctcg gacagttatt cattctcttt caatctctct
     1441 ctctccatct ctctctttca gtctctctct ctcaacctct ttcttccaat ctctctttct
     1501 caatctctct gtttcccttt gtcagtctct tccctccccc agtctctctt ctcaatcccc
     1561 ctttctaaca cacacacaca cacacacaca cacacacaca cacacacaca cacacacaca
     1621 gagtcaggcc gttgctagtc agttctcttc tttccaccct gtccctatct ctaccactat
     1681 agatgagggt gaggagtagg gagtgcagcc ctgagcctgc ccactcctca ttacgaaatg
     1741 actgtattta aaggaaatct attgtatcta cctgcagtct ccattgtttc cagagtgaac
     1801 ttgtaattat cttgttattt attttttgaa taataaagac ctcttaacat ta
//
