Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA.
| RefSeq Version | NM_005214.3, 83700229 |
| Length | 1988 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA. |
| Product | cytotoxic T-lymphocyte protein 4 isoform a precursor |
| Comment | 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]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer membrane-bound isoform (a, also referred to as CTLA4-TM). |
| RefSeq | NP_005205.2 |
| CDS | 158..829 | Exon (1) | 1..266 | Exon (2) | 1..266 | Exon (3) | 267..614 | Exon (4) | 615..724 | Exon (5) | 725..1977 |
| Translation | MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEY
ASPGKATEVRVTVLRQADSQVTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLR
AMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDSDFLLWILAAVSSGLFFYSFL
LTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN
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| Position | Chain | Variation | Link |
| 206 | + | a, g | dbSNP:231775 |
| 232 | + | c, g | dbSNP:16840275 |
| 429 | + | c, t | dbSNP:1065442 |
| 772 | + | c, g | dbSNP:74808460 |
| 863 | + | a, g | dbSNP:34162447 |
| 929 | + | a, g | dbSNP:56102377 |
| 1097 | + | a, g | dbSNP:56083753 |
| 1204 | + | a, g | dbSNP:13384548 |
| 1280 | + | c, g | dbSNP:35411154 |
| 1337..1346 | + | , atatatacat | dbSNP:66857345 |
| 1337..1344 | + | , atatatacatatatatatatatatatatatatatatatatat | dbSNP:68081199 |
| 1381..1400 | + | , atatatatatatatatatat | dbSNP:71971632 |
| 1386 | + | c, t | dbSNP:59665421 |
| 1391 | + | , atatatatat | dbSNP:66475712 |
| 1395 | + | , atatat | dbSNP:60872763 |
| 1400..1401 | + | , atatatatatatatatatatatatatatatatatatatatat | dbSNP:67181450 |
| 1790 | + | c, t | dbSNP:56217811 |
| 1812 | + | c, t | dbSNP:113318671 |
| 1871 | + | a, g | dbSNP:55696217 |
| Gene Symbol | CTLA4 |
| Gene Synonym | CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; ICOS; IDDM12 |
| Chromosome | 2 |
| Locus Map | 2q33 |
| All Transcripts | NM_005214 , NM_001037631 |
| Title | (AT) repeat in the 3' untranslated region of the CTLA-4 gene and susceptibility to acute allograft rejection in Tunisian renal transplantation . |
| Author | Krichen,H., Sfar,I., Hadj Kacem,H., Bardi,R., Jendoubi-Ayed,S., Makhlouf,M., Ben Romdhane,T., Besseghair,F., Aouadi,H., Ben Abdallah,T., Ayadi,H., Ayed,K. and Gorgi,Y. |
| Journal | Transplant. Proc. 42 (10), 4314-4317 (2010) |
| Title | [CTLA-4 gene polymorphism regulates CTLA-4 mRNA stability and protein level in patients with ulcerative colitis] . |
| Author | Chen,Z.T., Xia,B., Jiang,T., Zhou,F., Zou,K.F. and Ge,L.Q. |
| Journal | Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27 (6), 603-609 (2010) |
| Title | Effect of cytotoxic T lymphocyte-associated molecule 4 1661 gene polymorphism on its expression and transcription in ulcerative colitis . |
| Author | Jiang,T., Ge,L.Q., Chen,Z.T., Li,C., Zhou,F., Luo,Y. and Xia,B. |
| Journal | J Dig Dis 11 (6), 369-375 (2010) |
| Title | Investigation of CTLA-4 and CD28 gene polymorphisms in patients with diabetes mellitus type 2 using PCR-RFLP in a Turkish population . |
| Author | Uzer,E., Dilmec,F., Akkafa,F., Boduroglu,O. and van Kuilenburg,A.B. |
| Journal | West Indian Med J 59 (3), 235-240 (2010) |
| Title | A native soluble form of CTLA-4 . |
| Author | Oaks,M.K., Hallett,K.M., Penwell,R.T., Stauber,E.C., Warren,S.J. and Tector,A.J. |
| Journal | Cell. Immunol. 201 (2), 144-153 (2000) |
| Title | A soluble form of CTLA-4 generated by alternative splicing is expressed by nonstimulated human T cells . |
| Author | Magistrelli,G., Jeannin,P., Herbault,N., Benoit De Coignac,A., Gauchat,J.F., Bonnefoy,J.Y. and Delneste,Y. |
| Journal | Eur. J. Immunol. 29 (11), 3596-3602 (1999) |
| Title | Molecular cloning and expression of early T cell costimulatory molecule-1 and its characterization as B7-2 molecule . |
| Author | Chen,C., Gault,A., Shen,L. and Nabavi,N. |
| Journal | J. Immunol. 152 (10), 4929-4936 (1994) |
| Title | CTLA-4 is a second receptor for the B cell activation antigen B7 . |
| Author | Linsley,P.S., Brady,W., Urnes,M., Grosmaire,L.S., Damle,N.K. and Ledbetter,J.A. |
| Journal | J. Exp. Med. 174 (3), 561-569 (1991) |
| 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 . |
| Author | Harper,K., Balzano,C., Rouvier,E., Mattei,M.G., Luciani,M.F. and Golstein,P. |
| Journal | J. Immunol. 147 (3), 1037-1044 (1991) |
| Title | Human Ig superfamily CTLA-4 gene: chromosomal localization and identity of protein sequence between murine and human CTLA-4 cytoplasmic domains . |
| Author | Dariavach,P., Mattei,M.G., Golstein,P. and Lefranc,M.P. |
| Journal | Eur. J. Immunol. 18 (12), 1901-1905 (1988) |
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