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
//
Inga kommentarer:
Skicka en kommentar