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


RefSeq Accession Definition Services Price Order
NM_005214 Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA. ORF Sequence $194.88
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RefSeq Version NM_005214.4, 339276048
Length 2033 bp
Structure linear
Update Date 29-APR-2013
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)291..305
Misc Feature(4)order(306..308,312..314,330..332,471..473,504..506)
Misc Feature(5)327..548
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
204+a, gdbSNP:231775
230+c, gdbSNP:16840275
242+c, tdbSNP:145950656
294+dbSNP:
294+c, tdbSNP:146200342
371+a, gdbSNP:199943943
401+c, tdbSNP:139154557
427+c, tdbSNP:1065442
481+a, gdbSNP:144988077
545+a, gdbSNP:147679342
566+a, gdbSNP:188862082
623+dbSNP:
623+a, gdbSNP:200657280
701+a, tdbSNP:146571801
704+c, tdbSNP:199659316
720+a, gdbSNP:199912925
770+dbSNP:
770+c, gdbSNP:74808460
861+a, gdbSNP:34162447
927+a, gdbSNP:56102377
1095+a, gdbSNP:56083753
1202+a, gdbSNP:13384548
1278+c, gdbSNP:35411154
1335..1344+, atatatacatdbSNP:66857345
1335..1342+, atatatacatatatatatatatatatatatatatatatatatdbSNP:68081199
1343..1384+, atatatatatatatatatatatatatatatatatatatatatdbSNP:142863133
1343..1368+, atatatatatatatatatatatatatdbSNP:201484258
1343..1366+, atatatatatatatatatatatatdbSNP:201801137
1345+, atatatdbSNP:60872763
1349+, atatatatatdbSNP:66475712
1359..1378+, atatatatatatatatatatdbSNP:71971632
1384+c, tdbSNP:59665421
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 Sequence Price Select
NM_001037631 Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 2, mRNA. Full Length $557.67
ORF Sequence $159.00
NM_005214 Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA. Full Length $589.57
ORF Sequence $194.88
Title Association between cytotoxic T lymphocyte antigen-4 polymorphism and type 1 diabetes: a meta-analysis .
Author Chen,Z., Fei,M., Fu,D., Zhang,L., Ma,Y., Wang,Y., Zhang,F., Xia,Q. and Wang,X.
Journal Gene 516 (2), 263-270 (2013)
Title FOXP3, CBLB and ITCH gene expression and cytotoxic T lymphocyte antigen 4 expression on CD4(+) CD25(high) T cells in multiple sclerosis .
Author Sellebjerg,F., Krakauer,M., Khademi,M., Olsson,T. and Sorensen,P.S.
Journal Clin. Exp. Immunol. 170 (2), 149-155 (2012)
Title The impact of rs231775 (+49AG) CTLA4 gene polymorphism on transplanted kidney function .
Author Domanski,L., Bobrek-Lesiakowska,K., Kloda,K., Pawlik,A., Safranow,K., Wisniewska,M., Romanowski,M. and Ciechanowski,K.
Journal Ann. Transplant. 17 (3), 29-35 (2012)
Title A soluble form of CTLA-4 is present in paediatric patients with acute lymphoblastic leukaemia and correlates with CD1d+ expression .
Author Simone,R., Tenca,C., Fais,F., Luciani,M., De Rossi,G., Pesce,G., Bagnasco,M. and Saverino,D.
Journal PLoS ONE 7 (9), E44654 (2012)
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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