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Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005214 Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $399.00 14

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RefSeq Version NM_005214.4, 339276048
Length 2033 bp
Structure linear
Update Date 10-MAY-2014
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 CTLA4-TM 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, Jul 2008].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer membrane-bound isoform CTLA4-TM.

RefSeq NP_005205.2
CDS 156..827
Misc Feature(1)126..128
Misc Feature(2)270..611
Misc Feature(3)282..551
Misc Feature(4)291..305
Misc Feature(5)order(306..308,312..314,330..332,471..473,504..506)
Misc Feature(6)order(555..560,567..572)
Misc Feature(7)603..620
Misc Feature(8)639..701
Misc Feature(9)756..758
Misc Feature(10)756..758
Misc Feature(11)756..758
Misc Feature(12)756..758
Misc Feature(13)756..758
Exon (1)1..264
Gene:CTLA4
Gene Synonym:CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12
Exon (2)265..612
Gene:CTLA4
Gene Synonym:CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12
Exon (3)613..722
Gene:CTLA4
Gene Synonym:CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12
Exon (4)723..1975
Gene:CTLA4
Gene Synonym:CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12
Translation MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEY ASPGKATEVRVTVLRQADSQVTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLR AMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDSDFLLWILAAVSSGLFFYSFL LTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN
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Position Chain Variation Link
177+c, tdbSNP:201778935
178+a, gdbSNP:138279736
183+a, gdbSNP:146541851
197+c, tdbSNP:376591332
204+a, gdbSNP:231775
230+c, gdbSNP:16840275
242+c, tdbSNP:145950656
249+c, tdbSNP:369567630
294+dbSNP:
294+c, tdbSNP:146200342
326+a, gdbSNP:373393185
371+a, gdbSNP:199943943
401+c, tdbSNP:139154557
412+c, tdbSNP:376038796
423+a, gdbSNP:370443546
427+c, tdbSNP:1065442
481+a, gdbSNP:144988077
527+a, gdbSNP:372929906
545+a, gdbSNP:147679342
566+a, gdbSNP:188862082
569+a, tdbSNP:376126248
623+dbSNP:
623+a, gdbSNP:200657280
671+a, gdbSNP:375949600
701+a, tdbSNP:146571801
704+c, tdbSNP:199659316
720+a, gdbSNP:199912925
770+dbSNP:
770+c, gdbSNP:74808460
819+a, gdbSNP:367760388
821+c, tdbSNP:370517673
839+a, gdbSNP:369757839
853+a, gdbSNP:373219319
861+a, gdbSNP:34162447
927+a, gdbSNP:56102377
1095+a, gdbSNP:56083753
1156+a, gdbSNP:370681295
1169+a, gdbSNP:370224520
1202+a, gdbSNP:13384548
1278+c, gdbSNP:35411154
1343..1384+, atatatatatatatatatatatatatatatatatatatatatdbSNP:142863133
1343..1368+, atatatatatatatatatatatatatdbSNP:201484258
1343..1366+, atatatatatatatatatatatatdbSNP:201801137
1384+c, tdbSNP:59665421
1393..1398+, atatatdbSNP:60872763
1398..1399+, atatatatatatatatatatatatatatatatatatatatatdbSNP:67181450
1411+a, gdbSNP:180789983
1476+a, gdbSNP:139105990
1788+c, tdbSNP:56217811
1810+c, tdbSNP:113318671
1869+a, gdbSNP:55696217
1882+a, tdbSNP:190211458
Gene SymbolCTLA4
Gene SynonymCD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12
Chromosome2
Locus Map2q33
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001037631 Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 2, mRNA. On-demand $399.00 14
NM_005214 Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA. On-demand $399.00 14
Title Association of CTLA4 gene polymorphism (rs5742909) with cervical cancer: a meta-analysis .
Author Xu,H.B., Yang,H., Liu,T. and Chen,H.
Journal Tumour Biol. 35 (2), 1605-1608 (2014)
Title Differential expression of alternative splice variants of CTLA4 in Kuwaiti autoimmune disease patients .
Author AlFadhli,S. and Nizam,R.
Journal Gene 534 (2), 307-312 (2014)
Title Association of CTLA-4 gene 49A/G polymorphism with the incidence of type 1 diabetes mellitus in the Iranian Kurdish population .
Author Ahmadi S, Rostamzadeh J, Khosravi D, Shariati P and Shakiba N.
Journal Pak. J. Biol. Sci. 16 (24), 1929-1935 (2013)
Title CTLA-4 +49 and TNF-alpha-308 gene polymorphisms in celiac patients with exocrine pancreatic insufficiency .
Author Licul V, Cizmarevic NS, Ristic S, Mikolasevic I and Mijandrusic BS.
Journal Coll Antropol 37 (4), 1191-1194 (2013)
Title A native soluble form of CTLA-4 .
Author Oaks MK, Hallett KM, Penwell RT, Stauber EC, Warren SJ and Tector AJ.
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 JF, Bonnefoy JY 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 PS, Brady W, Urnes M, Grosmaire LS, Damle NK and Ledbetter JA.
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 MG, Luciani MF 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 MG, Golstein P and Lefranc MP.
Journal Eur. J. Immunol. 18 (12), 1901-1905 (1988)

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