Tieto tästä geenistä. Huomaa, miten moniin yleisiin kansantauteihin se assosioituu, jos siinä on mutaatioita.
Geeni CTLA4 , (2q33.2)
Sytotoksiseen
T–imusoluun liittyvä proteiini 4 , CTLA4.
- Suositeltu nimi
- cytotoxic T-lymphocyte protein 4
- Nimet
- CD152 isoform
- celiac disease 3
- cytotoxic T lymphocyte associated antigen 4 short spliced form
- cytotoxic T-lymphocyte-associated serine esterase-4
- insulin-dependent diabetes mellitus 12
- ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4
Synonyyminimien merkinnät : tälle geenille ovat:
CD; GSE; GRD4;
ALPS5; CD152; CTLA-4; IDDM12; CELIAC3
Suomennosta
yhteenvedosta. Tämä geeni on immunoglobuliinien superperheen jäsen
ja se koodaa erästä proteiinia, joka välittää T-soluihin
estäviä signaaleita. Proteiinissa on V-domeeni, transmembraaninen
domeeni ja sytoplasminen pääty. On luonnehdittu myös
vaihtoehtoisesti pleissautuneita variantteja, jotka koodaavat eri
isoformeja. Kalvoonsitoutunut isoformi toimii homodimeerinä, jonka
osat ovat liittyneet toisiinsa rikkisillalla. Liukoinen isoformi
toimii monomeerinä. Tämän geenin mutaatiot ovat assosioituneet
insuliinsita riippuvaan diabetekseen, Graven tautiin, Hashimoton
tyreoidiittiin, keliakiaan, systeemiseen lupus erytematosukseen,
kilpirauhaseen assosioituvaan orbitopatiaan ja muihin
autoimmuunitauteihin. Geeniä ilmenee imusolmukkeissa,
umpilisäkkeessä ja 8 muussa kudoksessa.
- Official Symbol
- CTLA4provided by HGNC
- Official Full Name
- cytotoxic T-lymphocyte associated protein 4provided by HGNC
- Also known as
- CD; GSE; GRD4; ALPS5; CD152; CTLA-4; IDDM12; CELIAC3
- 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]
- Expression
- Biased expression in lymph node (RPKM 10.3), appendix (RPKM 9.7) and 8 other tissues See more
-
Genetic association of CTLA4 gene with polycystic ovary syndrome in the Chinese Han population. Su J, et al. Medicine (Baltimore), 2018 Jul. PMID 30024513, Free PMC Article
-
A meta-analysis of the association between CTLA-4 genetic polymorphism and susceptibility of asthma. Zheng Y, et al. Medicine (Baltimore), 2018 Jul. PMID 29995780, Free PMC Article
-
Association of Five Snps in Cytotoxic T-Lymphocyte Antigen 4 and Cancer Susceptibility: Evidence from 67 Studies. Fang M, et al. Cell Physiol Biochem, 2018. PMID 29794444
-
Distribution of Cytotoxic T Lymphocyte-Associated Antigen-4 Promoter Polymorphisms in Taiwanese Patients with Type 2 Diabetes Mellitus. Shih YL, et al. Int J Med Sci, 2018. PMID 29511375, Free PMC Article
-
CTLA-4
polymorphisms: influence on transplant-related mortality and
survival in children undergoing allogeneic hematopoietic stem cell
transplantation. Hammrich J, et al. J Cancer Res Clin
Oncol, 2018 Mar. PMID 29335768
See citations in PubMed for homologs of this gene provided by HomoloGene
GeneRIFs: Gene References Into FunctionsWhat's
a GeneRIF?
Sequence:
sCTLA-4delTM
(soluble isoform)
( variantti joka on
liukoinen ja jossa ei ole transmembraania osaa)
Transcript Variant:
This variant (2) lacks an exon in the coding region, which results in
a frameshift and an early stop codon, compared to variant 1. The
encoded isoform CTLA-4delTM (also known as sCTLA4) is soluble
and lacks the transmembrane domain, compared to isoform a. The
exon skip represented in this variant is based on human U90273.1,
and is consistent with mouse U90270.1 and the data published in
PMID:10831323 and PMID:10556814.
CTLA-4TM precursor
(Citate)
cytotoxic
T-lymphocyte protein 4 isoform CTLA4-TM precursor [Homo sapiens]
NCBI Reference Sequence: NP_005205.2Identical Proteins FASTA Graphics
LOCUS NP_005205 223 aa linear PRI 30-SEP-2018 DEFINITION cytotoxic T-lymphocyte protein 4 isoform CTLA4-TM precursor [Homo sapiens]. ACCESSION NP_005205 XP_001129541 XP_001129550 XP_001129561 VERSION NP_005205.2 DBSOURCE REFSEQ: accession NM_005214.5 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 (residues 1 to 223) AUTHORS Zurawek M, Dzikiewicz-Krawczyk A, Izykowska K, Ziolkowska-Suchanek I, Skowronska B, Czainska M, Podralska M, Fichna P, Przybylski G, Fichna M and Nowak J. TITLE miR-487a-3p upregulated in type 1 diabetes targets CTLA4 and FOXO3 JOURNAL Diabetes Res. Clin. Pract. 142, 146-153 (2018) PUBMED 29859273 REMARK GeneRIF: Study suggests that miR-487a-3p might repress CTLA4 and FOXO3 by binding to their 3'UTRs and contribute to the development of T1D. REFERENCE 2 (residues 1 to 223) AUTHORS Su J, Li Y, Su G, Wang J, Qiu T, Ma R and Zhao L. TITLE Genetic association of CTLA4 gene with polycystic ovary syndrome in the Chinese Han population JOURNAL Medicine (Baltimore) 97 (29), e11422 (2018) PUBMED 30024513 REMARK GeneRIF: CTLA4 gene is suggested to correlated with polycyctic ovary syndrome, and influence polycycstic ovary syndrome through regulating obesity and the homeostatic model assessment for insulin resistance in a novel way. REFERENCE 3 (residues 1 to 223) AUTHORS Zheng Y, Wang H, Luo L, Liao L, You L, Wang J and Li Q. TITLE A meta-analysis of the association between CTLA-4 genetic polymorphism and susceptibility of asthma JOURNAL Medicine (Baltimore) 97 (28), e11380 (2018) PUBMED 29995780 REMARK GeneRIF: Our meta-analysis suggested that the +49 A/G polymorphism in CTLA4 might be a risk factor for asthma susceptibility, especially in Asian individuals, children, and patients with atopy Review article REFERENCE 4 (residues 1 to 223) AUTHORS Fang M, Huang W, Mo D, Zhao W and Huang R. TITLE Association of Five Snps in Cytotoxic T-Lymphocyte Antigen 4 and Cancer Susceptibility: Evidence from 67 Studies JOURNAL Cell. Physiol. Biochem. 47 (1), 414-427 (2018) PUBMED 29794444 REMARK GeneRIF: rs231775, rs4553808 and rs5742909 but not rs3087243 and rs733618 were significantly related to cancer risk. In analyses stratified by ethnicity, both rs231775 and rs4553808 were significant susceptibility polymorphisms in an Asian population but not in a Caucasian population. REFERENCE 5 (residues 1 to 223) AUTHORS Oaks MK, Hallett KM, Penwell RT, Stauber EC, Warren SJ and Tector AJ. TITLE A native soluble form of CTLA-4 JOURNAL Cell. Immunol. 201 (2), 144-153 (2000) PUBMED 10831323 REFERENCE 6 (residues 1 to 223) AUTHORS Magistrelli G, Jeannin P, Herbault N, Benoit De Coignac A, Gauchat JF, Bonnefoy JY 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 (residues 1 to 223) 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 (residues 1 to 223) AUTHORS Linsley PS, Brady W, Urnes M, Grosmaire LS, Damle NK and Ledbetter JA. 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 (residues 1 to 223) AUTHORS Harper K, Balzano C, Rouvier E, Mattei MG, Luciani MF 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 (residues 1 to 223) AUTHORS Dariavach P, Mattei MG, Golstein P and Lefranc MP. 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 AC010138.6, AF414120.1 and AI733018.1. This sequence is a reference standard in the RefSeqGene project. On or before Sep 20, 2006 this sequence version replaced XP_001129561.1, XP_001129550.1, XP_001129541.1, NP_005205.1. 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. 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 :: AF414120.1, BC069566.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..223 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q33.2" Protein 1..223 /product="cytotoxic T-lymphocyte protein 4 isoform CTLA4-TM precursor" /note="celiac disease 3; cytotoxic T-lymphocyte-associated serine esterase-4; ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4; insulin-dependent diabetes mellitus 12; CD152 isoform; cytotoxic T lymphocyte associated antigen 4 short spliced form" /calculated_mol_wt=20573 sig_peptide 1..35 /experiment="experimental evidence, no additional details recorded" /note="{ECO:0000255}; propagated from UniProtKB/Swiss-Prot (P16410.3)" /calculated_mol_wt=4101 mat_peptide 36..223 /product="Cytotoxic T-lymphocyte protein 4" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P16410.3)" /calculated_mol_wt=20573 Region 39..152 /region_name="IgV_CTLA-4" /note="Immunoglobulin (Ig) domain of cytotoxic T lymphocyte-associated antigen 4 (CTLA-4); cd05721" /db_xref="CDD:143198" Region 46..50 /region_name="Homodimerization. {ECO:0000269|PubMed:21156796}" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P16410.3)" Site order(51,53,59,106,117) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:143198" Region 134..139 /region_name="Important for interaction with CD80 and CD86. {ECO:0000269|PubMed:28484017}" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P16410.3)" Site order(134..135,138..139) /site_type="other" /note="antigen binding site [polypeptide binding]" /db_xref="CDD:143198" Region 150..155 /region_name="Homodimerization. {ECO:0000269|PubMed:21156796, ECO:0000269|PubMed:28484017}" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P16410.3)" Site 162..182 /site_type="transmembrane region" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P16410.3)" Site 201 /site_type="phosphorylation" /experiment="experimental evidence, no additional details recorded" /note="Phosphotyrosine, by TXK and JAK2. {ECO:0000269|PubMed:10842319, ECO:0000269|PubMed:9175836, ECO:0000269|PubMed:9813138}; propagated from UniProtKB/Swiss-Prot (P16410.3)" CDS 1..223 /gene="CTLA4" /gene_synonym="ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12" /coded_by="NM_005214.5:173..844" /note="isoform CTLA4-TM precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS2362.1" /db_xref="GeneID:1493" /db_xref="HGNC:HGNC:2505" /db_xref="MIM:123890" ORIGIN 1 maclgfqrhk aqlnlatrtw pctllffllf ipvfckamhv aqpavvlass rgiasfvcey 61 aspgkatevr vtvlrqadsq vtevcaatym mgneltfldd sictgtssgn qvnltiqglr 121 amdtglyick velmypppyy lgigngtqiy vidpepcpds dfllwilaav ssglffysfl 181 ltavslskml kkrsplttgv yvkmpptepe cekqfqpyfi pin //
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