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mRNA1
Homo sapiens cytotoxic T-lymphocyte-
associated protein 4 (CTLA4), transcript variant
1, mRNA
NCBI Reference
Sequence: NM_005214.4
FASTA
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LOCUS
NM_005214
2033 bp
mRNA
linear
PRI 01-APR-2012
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_005214.4
GI:339276048
KEYWORDS
.
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
2033)
AUTHORS
Ryden,A.,
Bolmeson,C., Jonson,C.O., Cilio,C.M. and
Faresjo,M.
TITLE
Low expression
and secretion of circulating soluble CTLA-4 in
peripheral blood mononuclear cells and
sera from type 1 diabetic
children
JOURNAL
Diabetes Metab.
Res. Rev. 28 (1), 84-96 (2012)
PUBMED
22218756
REMARK
GeneRIF: Low protein concentrations of
circulating soluble CTLA-4
and a positive
correlation between soluble CTLA-4 mRNA and
protein
were seen in IDDM, in
parallel with a negative correlation in
healthy subjects
REFERENCE
2
(bases 1 to 2033)
AUTHORS
Rabe,H., Lundell,A.C.,
Andersson,K., Adlerberth,I., Wold,A.E. and
Rudin,A.
TITLE
Higher
proportions of circulating FOXP3+ and CTLA-4+
regulatory T
cells are associated with
lower fractions of memory CD4+ T cells in
infants
JOURNAL
J. Leukoc. Biol. 90 (6), 1133-1140
(2011)
PUBMED
21934066
REMARK
GeneRIF: FOXP3+ or CTLA-4+
regulatory T cells may modulate CD4+ T
cell activation and homing receptor
expression in children.
REFERENCE
3
(bases 1 to 2033)
AUTHORS
Olive,D., le Thi,S.,
Xerri,L., Hirsch,I. and Nunes,J.A.
TITLE
[The role of co-inhibitory signals
driven by CTLA-4 in immune
system]
JOURNAL
Med Sci (Paris) 27 (10), 842-849 (2011)
PUBMED
22027421
REMARK
GeneRIF: The role of CTLA4
as an inhibitory co-signaling molecule
in
activated T lymphocytes is reviewed. Review.
REFERENCE
4
(bases 1 to
2033)
AUTHORS
Kimkong,I.,
Nakkuntod,J., Sae-Ngow,S., Snabboon,T.,
Avihingsanon,Y
.
and
Hirankarn,N.
TITLE
Association
between CTLA-4 polymorphisms and the
susceptibility to
systemic lupus
erythematosus and Graves' disease in Thai
population
JOURNAL
Asian Pac. J. Allergy Immunol. 29 (3),
229-235 (2011)
PUBMED
22053592
REMARK
GeneRIF: No association
between two functional polymorphisms
(+49A/G and CT60A/G) of the CTLA-4 gene
and susceptibility to
systemic lupus
erythematosus and Graves' disease .
REFERENCE
5
(bases 1 to
2033)
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 2033)
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
2033)
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
2033)
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
2033)
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 2033)
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 AF414120.1 and
AC010138.6.
This sequence is a
reference standard in the RefSeqGene project.
On Jul 2, 2011 this sequence version
replaced gi:83700229.
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.
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.
COMPLETENESS: complete on
the 3' end.
PRIMARY
REFSEQ_SPAN
PRIMARY_IDENTIFIER PRIMARY_SPAN
1-1390
AF414120.1
1-1390
1391-1398
AC010138.6
103850-103857
1399-2033
AF414120.1
1391-2025
FEATURES
Location/Qualifiers
source
1..2033
/organism=
/mol_type=
/db_xref=
COMP
/chromosome=
/map=
gene
1..2033
/gene=
/gene_synonym=
ICOS; IDDM12
/note=
/db_xref=
/db_xref=
/db_xref=
/db_xref=
exon
1..264
/gene=
/gene_synonym=
ICOS; IDDM12
/inference=
/number=1
STS
61..1019
/gene=
/gene_synonym=
ICOS; IDDM12
/db_xref=
STS
125..877
/gene=
/gene_synonym=
ICOS; IDDM12
/db_xref=
misc_feature
126..128
/gene=
/gene_synonym=
ICOS; IDDM12
/note=
CDS
156..827
/gene=
/gene_synonym=
ICOS; IDDM12
/note=
variant 1; celiac disease 3; cytotoxic
T-lymphocyte-associated
serine esterase-4; cytotoxic
T-lymphocyte-associated antigen 4;
cytotoxic T-lymphocyte
protein 4; ligand and transmembrane
spliced cytotoxic T
lymphocyte associated antigen 4;
cytotoxic T-lymphocyte
antigen 4; CD152 isoform; cytotoxic T
lymphocyte
associated
antigen 4 short spliced form
/codon_start=1
/product=
CTLA4-TM precursor
/protein_id=
/db_xref=
/db_xref=
/db_xref=
/db_xref=
/db_xref=
/db_xref=
/translation=
AQPA
VVLASSRGIASFVCEY
ASPGKATEVRVTVLRQADSQVTEVCAATYMMGNELTFLDDSI
CTGTSSGNQVNLTIQGLRAMDTGL
YICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDS
DFLLWILAAVSSGLFFYSFLLTA
VSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPY
FIPIN
sig_peptide
156..260
/gene=
/gene_synonym=
ICOS; IDDM12
mat_peptide
261..824
/gene=
/gene_synonym=
ICOS; IDDM12
/product=
CTLA4-TM
misc_feature
291..305
/gene=
/gene_synonym=
ICOS; IDDM12
/experiment=
recorded
/note=
Region: Homodimerization
misc_feature
603..620
/gene=
/gene_synonym=
ICOS; IDDM12
/experiment=
recorded
/note=
Region: Homodimerization
misc_feature
639..701
/gene=
/gene_synonym=
ICOS; IDDM12
/inference=
details recorded
/note=
transmembrane region
misc_feature
756..758
/gene=
/gene_synonym=
ICOS; IDDM12
/experiment=
recorded
/note=
UniProtKB/Swiss-Prot (P16410.3);
phosphorylation site
exon
265..612
/gene=
/gene_synonym=
ICOS; IDDM12
/inference=
/number=2
exon
613..722
/gene=
/gene_synonym=
ICOS; IDDM12
/inference=
/number=3
exon
723..1975
/gene=
/gene_synonym=
ICOS; IDDM12
/inference=
/number=4
STS
855..1041
/gene=
/gene_synonym=
ICOS; IDDM12
/standard_name=
/db_xref=
STS
1309..1436
/gene=
/gene_synonym=
ICOS; IDDM12
/standard_name=
/db_xref=
polyA_signal
1951..1956
/gene=
/gene_synonym=
ICOS; IDDM12
polyA_site
1975
/gene=
/gene_synonym=
ICOS; IDDM12
ORIGIN
1 cttctgtgtg
tgcacatgtg taatacatat ctgggatcaa agctatctat
ataaagtcct
61 tgattctgtg tgggttcaaa cacatttcaa
agcttcagga tcctgaaagg ttttgctcta
121 cttcctgaag acctgaacac
cgctcccata aagccatggc ttgccttgga tttcagcggc
181 acaaggctca
gctgaacctg gctaccagga cctggccctg cactctcctg
ttttttcttc
241
tcttcatccc tgtcttctgc aaagcaatgc acgtggccca
gcctgctgtg gtactggcca
301 gcagccgagg catcgccagc tttgtgtgtg
agtatgcatc tccaggcaaa gccactgagg
361 tccgggtgac agtgcttcgg
caggctgaca gccaggtgac tgaagtctgt gcggcaacct
421 acatgatggg
gaatgagttg accttcctag atgattccat ctgcacgggc
acctccagtg
481
gaaatcaagt gaacctcact atccaaggac tgagggccat
ggacacggga ctctacatct
541 gcaaggtgga gctcatgtac ccaccgccat
actacctggg cataggcaac ggaacccaga
601 tttatgtaat tgatccagaa
ccgtgcccag attctgactt cctcctctgg atccttgcag
661 cagttagttc
ggggttgttt ttttatagct ttctcctcac agctgtttct
ttgagcaaaa
721
tgctaaagaa aagaagccct cttacaacag gggtctatgt
gaaaatgccc ccaacagagc
781 cagaatgtga aaagcaattt cagccttatt
ttattcccat caattgagaa accattatga
841 agaagagagt ccatatttca
atttccaaga gctgaggcaa ttctaacttt tttgctatcc
901 agctattttt
atttgtttgt gcatttgggg ggaattcatc tctctttaat
ataaagttgg
961
atgcggaacc caaattacgt gtactacaat ttaaagcaaa
ggagtagaaa gacagagctg
1021 ggatgtttct gtcacatcag ctccactttc
agtgaaagca tcacttggga ttaatatggg
1081 gatgcagcat tatgatgtgg gtcaaggaat
taagttaggg aatggcacag cccaaagaag
1141 gaaaaggcag ggagcgaggg agaagactat
attgtacaca ccttatattt acgtatgaga
1201 cgtttatagc cgaaatgatc ttttcaagtt
aaattttatg ccttttattt cttaaacaaa
1261 tgtatgatta catcaaggct tcaaaaatac
tcacatggct atgttttagc cagtgatgct
1321 aaaggttgta ttgcatatat acatatatat
atatatatat atatatatat atatatatat
1381 atatatatat atatatattt taatttgata
gtattgtgca tagagccacg tatgtttttg
1441 tgtatttgtt aatggtttga atataaacac
tatatggcag tgtctttcca ccttgggtcc
1501 cagggaagtt ttgtggagga gctcaggaca
ctaatacacc aggtagaaca caaggtcatt
1561 tgctaactag cttggaaact ggatgaggtc
atagcagtgc ttgattgcgt ggaattgtgc
1621 tgagttggtg ttgacatgtg ctttggggct
tttacaccag ttcctttcaa tggtttgcaa
1681 ggaagccaca gctggtggta tctgagttga
cttgacagaa cactgtcttg aagacaatgg
1741 cttactccag gagacccaca ggtatgacct
tctaggaagc tccagttcga tgggcccaat
1801 tcttacaaac atgtggttaa tgccatggac
agaagaaggc agcaggtggc agaatggggt
1861 gcatgaaggt ttctgaaaat taacactgct
tgtgttttta actcaatatt ttccatgaaa
1921 atgcaacaac atgtataata tttttaatta
aataaaaatc tgtggtggtc gttttaaaaa