LOCUS       NM_005214               1997 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens cytotoxic T-lymphocyte associated protein 4 (CTLA4),
            transcript variant 1, mRNA.
ACCESSION   NM_005214 XM_001129541 XM_001129550 XM_001129561
VERSION     NM_005214.5
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 1997)
  AUTHORS   Sun,T., Yang,Y., Qiu,Y., Wang,T., Yang,M., Shen,S. and Wang,W.
  TITLE     High PD-1 and CTLA-4 expression correlates with host immune
            suppression in patients and a mouse model infected with
            Echinococcus multilocularis
  JOURNAL   Parasit Vectors 17 (1), 437 (2024)
   PUBMED   39456030
  REMARK    GeneRIF: High PD-1 and CTLA-4 expression correlates with host
            immune suppression in patients and a mouse model infected with
            Echinococcus multilocularis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1997)
  AUTHORS   Dhaouadi,T., Riahi,A., Ben Abdallah,T., Gorgi,Y. and Sfar,I.
  TITLE     Association of four CTLA-4 gene polymorphisms with pemphigus risk:
            a systematic review, meta-analysis, and meta-regression
  JOURNAL   J Int Med Res 52 (10), 3000605241282116 (2024)
   PUBMED   39397428
  REMARK    GeneRIF: Association of four CTLA-4 gene polymorphisms with
            pemphigus risk: a systematic review, meta-analysis, and
            meta-regression.
REFERENCE   3  (bases 1 to 1997)
  AUTHORS   Ohtani,H., Inoue,N., Iwatani,Y., Takeno,Y., Arakawa,Y., Hidaka,Y.
            and Watanabe,M.
  TITLE     Effect of DNA methylation at the CTLA4 gene on the clinical status
            of autoimmune thyroid diseases
  JOURNAL   Clin Immunol 267, 110338 (2024)
   PUBMED   39142493
  REMARK    GeneRIF: Effect of DNA methylation at the CTLA4 gene on the
            clinical status of autoimmune thyroid diseases.
REFERENCE   4  (bases 1 to 1997)
  AUTHORS   Shamala,V. and Asha Devi,S.
  TITLE     Decoding the genetic influence of CT60 non-coding polymorphism in
            CTLA-4 gene and sCTLA-4 biomarker with rheumatoid arthritis in the
            Indian population
  JOURNAL   Mol Biol Rep 51 (1), 1023 (2024)
   PUBMED   39340674
  REMARK    GeneRIF: Decoding the genetic influence of CT60 non-coding
            polymorphism in CTLA-4 gene and sCTLA-4 biomarker with rheumatoid
            arthritis in the Indian population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1997)
  AUTHORS   Oaks,M.K., Hallett,K.M., Penwell,R.T., Stauber,E.C., Warren,S.J.
            and Tector,A.J.
  TITLE     A native soluble form of CTLA-4
  JOURNAL   Cell Immunol 201 (2), 144-153 (2000)
   PUBMED   10831323
REFERENCE   6  (bases 1 to 1997)
  AUTHORS   Magistrelli,G., Jeannin,P., Herbault,N., Benoit De Coignac,A.,
            Gauchat,J.F., Bonnefoy,J.Y. and Delneste,Y.
  TITLE     A soluble form of CTLA-4 generated by alternative splicing is
            expressed by nonstimulated human T cells
  JOURNAL   Eur J Immunol 29 (11), 3596-3602 (1999)
   PUBMED   10556814
REFERENCE   7  (bases 1 to 1997)
  AUTHORS   Chen,C., Gault,A., Shen,L. and Nabavi,N.
  TITLE     Molecular cloning and expression of early T cell costimulatory
            molecule-1 and its characterization as B7-2 molecule
  JOURNAL   J Immunol 152 (10), 4929-4936 (1994)
   PUBMED   7513726
REFERENCE   8  (bases 1 to 1997)
  AUTHORS   Linsley,P.S., Brady,W., Urnes,M., Grosmaire,L.S., Damle,N.K. and
            Ledbetter,J.A.
  TITLE     CTLA-4 is a second receptor for the B cell activation antigen B7
  JOURNAL   J Exp Med 174 (3), 561-569 (1991)
   PUBMED   1714933
REFERENCE   9  (bases 1 to 1997)
  AUTHORS   Harper,K., Balzano,C., Rouvier,E., Mattei,M.G., Luciani,M.F. and
            Golstein,P.
  TITLE     CTLA-4 and CD28 activated lymphocyte molecules are closely related
            in both mouse and human as to sequence, message expression, gene
            structure, and chromosomal location
  JOURNAL   J Immunol 147 (3), 1037-1044 (1991)
   PUBMED   1713603
REFERENCE   10 (bases 1 to 1997)
  AUTHORS   Dariavach,P., Mattei,M.G., Golstein,P. and Lefranc,M.P.
  TITLE     Human Ig superfamily CTLA-4 gene: chromosomal localization and
            identity of protein sequence between murine and human CTLA-4
            cytoplasmic domains
  JOURNAL   Eur J Immunol 18 (12), 1901-1905 (1988)
   PUBMED   3220103
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010138.6, AF414120.1 and
            AI733018.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 29, 2018 this sequence version replaced NM_005214.4.
            
            Summary: This gene is a member of the immunoglobulin superfamily
            and encodes a protein which transmits an inhibitory signal to T
            cells. The protein contains a V domain, a transmembrane domain, and
            a cytoplasmic tail. Alternate transcriptional splice variants,
            encoding different isoforms, have been characterized. The
            membrane-bound isoform functions as a homodimer interconnected by a
            disulfide bond, while the soluble isoform functions as a monomer.
            Mutations in this gene have been associated with insulin-dependent
            diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac
            disease, systemic lupus erythematosus, thyroid-associated
            orbitopathy, and other autoimmune diseases. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer membrane-bound isoform CTLA4-TM.
            
            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 :: AF414120.1, BC069566.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000648405.2/ ENSP00000497102.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AC010138.6         98245-98261
            18-1407             AF414120.1         1-1390
            1408-1415           AC010138.6         103850-103857
            1416-1992           AF414120.1         1391-1967
            1993-1997           AI733018.1         4-8                 c
FEATURES             Location/Qualifiers
     source          1..1997
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.2"
     gene            1..1997
                     /gene="CTLA4"
                     /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4;
                     GSE; IDDM12"
                     /note="cytotoxic T-lymphocyte associated protein 4"
                     /db_xref="GeneID:1493"
                     /db_xref="HGNC:HGNC:2505"
                     /db_xref="MIM:123890"
     exon            1..281
                     /gene="CTLA4"
                     /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4;
                     GSE; IDDM12"
                     /inference="alignment:Splign:2.1.0"
     CDS             173..844
                     /gene="CTLA4"
                     /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4;
                     GSE; IDDM12"
                     /note="isoform CTLA4-TM precursor is encoded by transcript
                     variant 1; celiac disease 3; cytotoxic
                     T-lymphocyte-associated serine esterase-4; ligand and
                     transmembrane spliced cytotoxic T lymphocyte associated
                     antigen 4; insulin-dependent diabetes mellitus 12;
                     cytotoxic T lymphocyte associated antigen 4 short spliced
                     form; gluten-sensitive enteropathy"
                     /codon_start=1
                     /product="cytotoxic T-lymphocyte protein 4 isoform
                     CTLA4-TM precursor"
                     /protein_id="NP_005205.2"
                     /db_xref="CCDS:CCDS2362.1"
                     /db_xref="GeneID:1493"
                     /db_xref="HGNC:HGNC:2505"
                     /db_xref="MIM:123890"
                     /translation="MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPA
                     VVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQVTEVCAATYMMGNELTFLDDSI
                     CTGTSSGNQVNLTIQGLRAMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDS
                     DFLLWILAAVSSGLFFYSFLLTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPY
                     FIPIN"
     exon            282..629
                     /gene="CTLA4"
                     /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4;
                     GSE; IDDM12"
                     /inference="alignment:Splign:2.1.0"
     exon            630..739
                     /gene="CTLA4"
                     /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4;
                     GSE; IDDM12"
                     /inference="alignment:Splign:2.1.0"
     exon            740..1997
                     /gene="CTLA4"
                     /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4;
                     GSE; IDDM12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      967..972
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTLA4"
                     /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4;
                     GSE; IDDM12"
                     /note="hexamer: TATAAA"
     polyA_site      991
                     /gene="CTLA4"
                     /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4;
                     GSE; IDDM12"
                     /note="major polyA site"
     regulatory      1968..1973
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTLA4"
                     /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4;
                     GSE; IDDM12"
                     /note="hexamer: AATAAA"
     polyA_site      1997
                     /gene="CTLA4"
                     /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4;
                     GSE; IDDM12"
ORIGIN      
        1 gctttctatt caagtgcctt ctgtgtgtgc acatgtgtaa tacatatctg ggatcaaagc
       61 tatctatata aagtccttga ttctgtgtgg gttcaaacac atttcaaagc ttcaggatcc
      121 tgaaaggttt tgctctactt cctgaagacc tgaacaccgc tcccataaag ccatggcttg
      181 ccttggattt cagcggcaca aggctcagct gaacctggct accaggacct ggccctgcac
      241 tctcctgttt tttcttctct tcatccctgt cttctgcaaa gcaatgcacg tggcccagcc
      301 tgctgtggta ctggccagca gccgaggcat cgccagcttt gtgtgtgagt atgcatctcc
      361 aggcaaagcc actgaggtcc gggtgacagt gcttcggcag gctgacagcc aggtgactga
      421 agtctgtgcg gcaacctaca tgatggggaa tgagttgacc ttcctagatg attccatctg
      481 cacgggcacc tccagtggaa atcaagtgaa cctcactatc caaggactga gggccatgga
      541 cacgggactc tacatctgca aggtggagct catgtaccca ccgccatact acctgggcat
      601 aggcaacgga acccagattt atgtaattga tccagaaccg tgcccagatt ctgacttcct
      661 cctctggatc cttgcagcag ttagttcggg gttgtttttt tatagctttc tcctcacagc
      721 tgtttctttg agcaaaatgc taaagaaaag aagccctctt acaacagggg tctatgtgaa
      781 aatgccccca acagagccag aatgtgaaaa gcaatttcag ccttatttta ttcccatcaa
      841 ttgagaaacc attatgaaga agagagtcca tatttcaatt tccaagagct gaggcaattc
      901 taactttttt gctatccagc tatttttatt tgtttgtgca tttgggggga attcatctct
      961 ctttaatata aagttggatg cggaacccaa attacgtgta ctacaattta aagcaaagga
     1021 gtagaaagac agagctggga tgtttctgtc acatcagctc cactttcagt gaaagcatca
     1081 cttgggatta atatggggat gcagcattat gatgtgggtc aaggaattaa gttagggaat
     1141 ggcacagccc aaagaaggaa aaggcaggga gcgagggaga agactatatt gtacacacct
     1201 tatatttacg tatgagacgt ttatagccga aatgatcttt tcaagttaaa ttttatgcct
     1261 tttatttctt aaacaaatgt atgattacat caaggcttca aaaatactca catggctatg
     1321 ttttagccag tgatgctaaa ggttgtattg catatataca tatatatata tatatatata
     1381 tatatatata tatatatata tatatatata tatattttaa tttgatagta ttgtgcatag
     1441 agccacgtat gtttttgtgt atttgttaat ggtttgaata taaacactat atggcagtgt
     1501 ctttccacct tgggtcccag ggaagttttg tggaggagct caggacacta atacaccagg
     1561 tagaacacaa ggtcatttgc taactagctt ggaaactgga tgaggtcata gcagtgcttg
     1621 attgcgtgga attgtgctga gttggtgttg acatgtgctt tggggctttt acaccagttc
     1681 ctttcaatgg tttgcaagga agccacagct ggtggtatct gagttgactt gacagaacac
     1741 tgtcttgaag acaatggctt actccaggag acccacaggt atgaccttct aggaagctcc
     1801 agttcgatgg gcccaattct tacaaacatg tggttaatgc catggacaga agaaggcagc
     1861 aggtggcaga atggggtgca tgaaggtttc tgaaaattaa cactgcttgt gtttttaact
     1921 caatattttc catgaaaatg caacaacatg tataatattt ttaattaaat aaaaatctgt
     1981 ggtggtcgtt ttccgga
//
