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2024-04-19 10:28:17, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_148902 1193 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens tumor necrosis factor receptor superfamily, member 18
(TNFRSF18), transcript variant 3, mRNA.
ACCESSION NM_148902
VERSION NM_148902.1 GI:23238196
KEYWORDS RefSeq.
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 1193)
AUTHORS Arandi,N., Mirshafiey,A., Abolhassani,H., Jeddi-Tehrani,M.,
Edalat,R., Sadeghi,B., Shaghaghi,M. and Aghamohammadi,A.
TITLE Frequency and expression of inhibitory markers of CD4(+) CD25(+)
FOXP3(+) regulatory T cells in patients with common variable
immunodeficiency
JOURNAL Scand. J. Immunol. 77 (5), 405-412 (2013)
PUBMED 23432692
REMARK GeneRIF: Data indicate that the mRNAs of CTLA-4 and GITR genes were
expressed at lower levels in CVID patients compared to control
group.
REFERENCE 2 (bases 1 to 1193)
AUTHORS Pedroza-Gonzalez,A., Verhoef,C., Ijzermans,J.N.,
Peppelenbosch,M.P., Kwekkeboom,J., Verheij,J., Janssen,H.L. and
Sprengers,D.
TITLE Activated tumor-infiltrating CD4+ regulatory T cells restrain
antitumor immunity in patients with primary or metastatic liver
cancer
JOURNAL Hepatology 57 (1), 183-194 (2013)
PUBMED 22911397
REMARK GeneRIF: Liver tumor Tregs up-regulate the expression of
glucocorticoid-induced tumor necrosis factor receptor compared with
Tregs in tumor-free liver tissue and blood.
REFERENCE 3 (bases 1 to 1193)
AUTHORS Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee
JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K,
Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z,
Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN,
Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A,
Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De
Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson
LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas
J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH,
Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees
CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W,
Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M,
Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber
S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M,
Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier
RJ, Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V,
Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD,
Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC and
Cho JH.
CONSRTM International IBD Genetics Consortium (IIBDGC)
TITLE Host-microbe interactions have shaped the genetic architecture of
inflammatory bowel disease
JOURNAL Nature 491 (7422), 119-124 (2012)
PUBMED 23128233
REFERENCE 4 (bases 1 to 1193)
AUTHORS von Rahden,B.H., Kircher,S., Landmann,D., Schlegel,N.,
Lazariotou,M., Jurowich,C.F., Germer,C.T. and Grimm,M.
TITLE Glucocorticoid-induced tumour necrosis factor receptor expression:
a potential molecular link between steroid intake and complicated
diverticulitis?
JOURNAL Colorectal Dis 14 (10), 1276-1286 (2012)
PUBMED 22309286
REMARK GeneRIF: Results suggest that GITR expression might indicate a
molecular link between steroid use and complicated acute sigmoid
diverticulitis. Increased MMP-9 expression by GITR signalling might
explain morphological changes in the colonic wall in
diverticulitis.
REFERENCE 5 (bases 1 to 1193)
AUTHORS Pan,Y., Li,X.P., Sun,J.F., Wang,L., Chen,Z., Li,X.M., Tao,J.H.,
Qian,L. and Zhang,H.
TITLE [Effects of glucocorticoids on the expression of GTIR and apoptosis
of the CD4(+)CD25(+)CD127(dim/-) T cells in patients with systemic
lupus erythematosus]
JOURNAL Beijing Da Xue Xue Bao 44 (2), 215-220 (2012)
PUBMED 22516990
REMARK GeneRIF: GITR is pathologically expressed on Treg cells in systemic
lupus erythematosus.
REFERENCE 6 (bases 1 to 1193)
AUTHORS Shimizu,J., Yamazaki,S., Takahashi,T., Ishida,Y. and Sakaguchi,S.
TITLE Stimulation of CD25(+)CD4(+) regulatory T cells through GITR breaks
immunological self-tolerance
JOURNAL Nat. Immunol. 3 (2), 135-142 (2002)
PUBMED 11812990
REFERENCE 7 (bases 1 to 1193)
AUTHORS Nocentini,G., Ronchetti,S., Bartoli,A., Spinicelli,S., Delfino,D.,
Brunetti,L., Migliorati,G. and Riccardi,C.
TITLE Identification of three novel mRNA splice variants of GITR
JOURNAL Cell Death Differ. 7 (4), 408-410 (2000)
PUBMED 10836847
REFERENCE 8 (bases 1 to 1193)
AUTHORS Kwon,B., Yu,K.Y., Ni,J., Yu,G.L., Jang,I.K., Kim,Y.J., Xing,L.,
Liu,D., Wang,S.X. and Kwon,B.S.
TITLE Identification of a novel activation-inducible protein of the tumor
necrosis factor receptor superfamily and its ligand
JOURNAL J. Biol. Chem. 274 (10), 6056-6061 (1999)
PUBMED 10037686
REFERENCE 9 (bases 1 to 1193)
AUTHORS Gurney,A.L., Marsters,S.A., Huang,R.M., Pitti,R.M., Mark,D.T.,
Baldwin,D.T., Gray,A.M., Dowd,A.D., Brush,A.D., Heldens,A.D.,
Schow,A.D., Goddard,A.D., Wood,W.I., Baker,K.P., Godowski,P.J. and
Ashkenazi,A.
TITLE Identification of a new member of the tumor necrosis factor family
and its receptor, a human ortholog of mouse GITR
JOURNAL Curr. Biol. 9 (4), 215-218 (1999)
PUBMED 10074428
REFERENCE 10 (bases 1 to 1193)
AUTHORS Nocentini,G., Giunchi,L., Ronchetti,S., Krausz,L.T., Bartoli,A.,
Moraca,R., Migliorati,G. and Riccardi,C.
TITLE A new member of the tumor necrosis factor/nerve growth factor
receptor family inhibits T cell receptor-induced apoptosis
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 94 (12), 6216-6221 (1997)
PUBMED 9177197
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL162741.44, AF117297.1 and
AF241229.1.
Summary: This gene encodes a member of the TNF-receptor
superfamily. The encoded receptor has been shown to have increased
expression upon T-cell activation, and it is thought to play a key
role in dominant immunological self-tolerance maintained by
CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also
suggest the role of this receptor is in the regulation of
CD3-driven T-cell activation and programmed cell death. Three
alternatively spliced transcript variants of this gene encoding
distinct isoforms have been reported. [provided by RefSeq, Feb
2011].
Transcript Variant: This variant (3) contains an extra coding
segment, which leads to a frame shift, compared to variant 2. The
resulting protein (isoform 3) contains a distinct and shorter
C-terminus, as compared to isoform 2.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: AF117297.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025093 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-325 AL162741.44 16497-16821 c
326-843 AF117297.1 188-705
844-1193 AF241229.1 516-865
FEATURES Location/Qualifiers
source 1..1193
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p36.3"
gene 1..1193
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/note="tumor necrosis factor receptor superfamily, member
18"
/db_xref="GeneID:8784"
/db_xref="HGNC:11914"
/db_xref="HPRD:04879"
/db_xref="MIM:603905"
exon 1..325
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/inference="alignment:Splign:1.39.8"
STS 26..1121
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/db_xref="UniSTS:490342"
misc_feature 127..129
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/note="upstream in-frame stop codon"
CDS 139..843
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/note="isoform 3 precursor is encoded by transcript
variant 3; TNF receptor superfamily activation-inducible
protein; glucocorticoid-induced TNFR-related protein;
activation-inducible TNFR family receptor"
/codon_start=1
/product="tumor necrosis factor receptor superfamily
member 18 isoform 3 precursor"
/protein_id="NP_683700.1"
/db_xref="GI:23238197"
/db_xref="CCDS:CCDS30552.1"
/db_xref="GeneID:8784"
/db_xref="HGNC:11914"
/db_xref="HPRD:04879"
/db_xref="MIM:603905"
/translation="
MAQHGAMGAFRALCGLALLCALSLGQRPTGGPGCGPGRLLLGTGTDARCCRVHTTRCCRDYPGEECCSEWDCMCVQPEFHCGDPCCTTCRHHPCPPGQGVQSQGKFSFGFQCIDCASGTFSGGHEGHCKPWTDCTQFGFLTVFPGNKTHNAVCVPGSPPAEPLGWLTVVLLAVAACVLLLTSAQLGLHIWQLRKTQLLLEVPPSTEDARSCQFPEEERGERSAEEKGRLGDLWV
"
sig_peptide 139..213
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 214..840
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/product="tumor necrosis factor receptor superfamily
member 18 isoform 3"
variation 266
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="c"
/replace="g"
/db_xref="dbSNP:11466676"
exon 326..448
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/inference="alignment:Splign:1.39.8"
variation 328
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="a"
/replace="g"
/db_xref="dbSNP:11466687"
variation 330
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="a"
/replace="g"
/db_xref="dbSNP:35586212"
variation 385
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="a"
/replace="g"
/db_xref="dbSNP:11466688"
variation 399
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="a"
/replace="g"
/db_xref="dbSNP:11466689"
exon 449..536
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/inference="alignment:Splign:1.39.8"
variation 453
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="a"
/replace="g"
/db_xref="dbSNP:11466691"
misc_feature 537..726
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/note="Region: sequence absent in variant 2"
exon 537..718
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/inference="alignment:Splign:1.39.8"
variation 588
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="c"
/replace="t"
/db_xref="dbSNP:61761323"
variation 655
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="a"
/replace="g"
/db_xref="dbSNP:11466693"
exon 719..1179
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/inference="alignment:Splign:1.39.8"
variation 851
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="c"
/replace="t"
/db_xref="dbSNP:11466695"
variation 865
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="a"
/replace="g"
/db_xref="dbSNP:2298213"
variation 1152
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="a"
/replace="g"
/db_xref="dbSNP:11466696"
variation 1154
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
/replace="a"
/replace="g"
/db_xref="dbSNP:3819001"
polyA_signal 1160..1165
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
polyA_site 1179
/gene="TNFRSF18"
/gene_synonym="AITR; CD357; GITR; GITR-D"
ORIGIN
gtctacaccccctcctcacacgcacttcacctgggtcgggattctcaggtcatgaacggtcccagccacctccgggcagggcgggtgaggacggggacggggcgtgtccaactggctgtgggctcttgaaacccgagcatggcacagcacggggcgatgggcgcgtttcgggccctgtgcggcctggcgctgctgtgcgcgctcagcctgggtcagcgccccaccgggggtcccgggtgcggccctgggcgcctcctgcttgggacgggaacggacgcgcgctgctgccgggttcacacgacgcgctgctgccgcgattacccgggcgaggagtgctgttccgagtgggactgcatgtgtgtccagcctgaattccactgcggagacccttgctgcacgacctgccggcaccacccttgtcccccaggccagggggtacagtcccaggggaaattcagttttggcttccagtgtatcgactgtgcctcggggaccttctccgggggccacgaaggccactgcaaaccttggacagactgcacccagttcgggtttctcactgtgttccctgggaacaagacccacaacgctgtgtgcgtcccagggtccccgccggcagagccgcttgggtggctgaccgtcgtcctcctggccgtggccgcctgcgtcctcctcctgacctcggcccagcttggactgcacatctggcagctgaggaagacccagctgctgctggaggtgccgccgtcgaccgaagacgccagaagctgccagttccccgaggaagagcggggcgagcgatcggcagaggagaaggggcggctgggagacctgtgggtgtgagcctggccgtcctccggggccaccgaccgcagccagcccctccccaggagctccccaggccgcaggggctctgcgttctgctctgggccgggccctgctcccctggcagcagaagtgggtgcaggaaggtggcagtgaccagcgccctggaccatgcagttcggcggccgcggctgggccctgcaggagggagagagagacacagtcatggcccccttcctcccttgctggccctgatggggtggggtcttaggacgggaggctgtgtccgtgggtgtgcagtgcccagcacgggacccggctgcaggggaccttcaataaacacttgtccagtgaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:8784 -> Molecular function: GO:0005031 [tumor necrosis factor-activated receptor activity] evidence: TAS
GeneID:8784 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:8784 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
GeneID:8784 -> Biological process: GO:0033209 [tumor necrosis factor-mediated signaling pathway] evidence: TAS
GeneID:8784 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:8784 -> Cellular component: GO:0005576 [extracellular region] evidence: IEA
GeneID:8784 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: IEA
GeneID:8784 -> Cellular component: GO:0009897 [external side of plasma membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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