2024-04-20 09:45:04, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_138296 1097 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 2, mRNA. ACCESSION NM_138296 VERSION NM_138296.2 GI:110227623 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 1097) AUTHORS Velez,D.R., Fortunato,S., Thorsen,P., Lombardi,S.J., Williams,S.M. and Menon,R. TITLE Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants JOURNAL Am. J. Obstet. Gynecol. 200 (2), 209 (2009) PUBMED 19019335 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 2 (bases 1 to 1097) AUTHORS Menon,R., Pearce,B., Velez,D.R., Merialdi,M., Williams,S.M., Fortunato,S.J. and Thorsen,P. TITLE Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants JOURNAL Reprod. Biol. Endocrinol. 7, 62 (2009) PUBMED 19527514 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only REFERENCE 3 (bases 1 to 1097) AUTHORS Velez,D.R., Fortunato,S.J., Thorsen,P., Lombardi,S.J., Williams,S.M. and Menon,R. TITLE Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants JOURNAL PLoS ONE 3 (9), E3283 (2008) PUBMED 18818748 REMARK GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) Publication Status: Online-Only REFERENCE 4 (bases 1 to 1097) AUTHORS Navarro,M.N., Nusspaumer,G., Fuentes,P., Gonzalez-Garcia,S., Alcain,J. and Toribio,M.L. TITLE Identification of CMS as a cytosolic adaptor of the human pTalpha chain involved in pre-TCR function JOURNAL Blood 110 (13), 4331-4340 (2007) PUBMED 17823309 REMARK GeneRIF: identified a polyproline-arginine sequence in the pTalpha cytoplasmic tail that interacted in vitro with SH3 domains of the CIN85/CMS family of adaptors, and mediated the recruitment of multiprotein complexes involving all (CMS, CIN85, and CD2BP3) members REFERENCE 5 (bases 1 to 1097) AUTHORS Bas,A., Hammarstrom,S.G. and Hammarstrom,M.L. TITLE Extrathymic TCR gene rearrangement in human small intestine: identification of new splice forms of recombination activating gene-1 mRNA with selective tissue expression JOURNAL J. Immunol. 171 (7), 3359-3371 (2003) PUBMED 14500629 REMARK GeneRIF: High levels of pre-T cell receptor alpha-chain mRNA splice forms have been demonstrated in immature CD2+CD7+CD3- T cells of the jejunal mucosa, both intraepithelially and in lamina propria. REFERENCE 6 (bases 1 to 1097) AUTHORS Aifantis,I., Borowski,C., Gounari,F., Lacorazza,H.D., Nikolich-Zugich,J. and von Boehmer,H. TITLE A critical role for the cytoplasmic tail of pTalpha in T lymphocyte development JOURNAL Nat. Immunol. 3 (5), 483-488 (2002) PUBMED 11927911 REMARK Erratum:[Nat Immunol 2002 Jun;3(6):591] REFERENCE 7 (bases 1 to 1097) AUTHORS Bellavia,D., Campese,A.F., Checquolo,S., Balestri,A., Biondi,A., Cazzaniga,G., Lendahl,U., Fehling,H.J., Hayday,A.C., Frati,L., von Boehmer,H., Gulino,A. and Screpanti,I. TITLE Combined expression of pTalpha and Notch3 in T cell leukemia identifies the requirement of preTCR for leukemogenesis JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (6), 3788-3793 (2002) PUBMED 11891328 REMARK GeneRIF: Combined expression of pTalpha and Notch3 in T cell leukemia identifies the requirement of preTCR for leukemogenesis REFERENCE 8 (bases 1 to 1097) AUTHORS Saint-Ruf,C., Lechner,O., Feinberg,J. and von Boehmer,H. TITLE Genomic structure of the human pre-T cell receptor alpha chain and expression of two mRNA isoforms JOURNAL Eur. J. Immunol. 28 (11), 3824-3831 (1998) PUBMED 9842925 REFERENCE 9 (bases 1 to 1097) AUTHORS Ramiro,A.R., Trigueros,C., Marquez,C., San Millan,J.L. and Toribio,M.L. TITLE Regulation of pre-T cell receptor (pT alpha-TCR beta) gene expression during human thymic development JOURNAL J. Exp. Med. 184 (2), 519-530 (1996) PUBMED 8760805 REFERENCE 10 (bases 1 to 1097) AUTHORS Del Porto,P., Bruno,L., Mattei,M.G., von Boehmer,H. and Saint-Ruf,C. TITLE Cloning and comparative analysis of the human pre-T-cell receptor alpha-chain gene JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (26), 12105-12109 (1995) PUBMED 8618853 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from U36759.1, BC100771.1, U38996.1 and AW014894.1. On Jul 7, 2006 this sequence version replaced gi:19923720. Summary: The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]. Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) lacks an alternate internal segment compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: U36759.1, BC100773.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025089 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-58 U36759.1 1-58 59-1049 BC100771.1 1-991 1050-1074 U38996.1 934-958 1075-1097 AW014894.1 1-23 c FEATURES Location/Qualifiers source 1..1097 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p21.3" gene 1..1097 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /note="pre T-cell antigen receptor alpha" /db_xref="GeneID:171558" /db_xref="HGNC:21290" /db_xref="HPRD:08435" /db_xref="MIM:606817" exon 1..139 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /inference="alignment:Splign:1.39.8" misc_feature 1..3 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /note="upstream in-frame stop codon" variation 25 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:374451302" variation 27 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:200306211" STS 32..977 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /db_xref="UniSTS:480837" STS 59..1049 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /db_xref="UniSTS:484104" CDS 82..927 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /note="isoform 2 precursor is encoded by transcript variant 2; pre-T-cell receptor alpha chain; pT-alpha-TCR" /codon_start=1 /product="pre T-cell antigen receptor alpha isoform 2 precursor" /protein_id="NP_612153.2" /db_xref="GI:110227624" /db_xref="CCDS:CCDS4874.1" /db_xref="GeneID:171558" /db_xref="HGNC:21290" /db_xref="HPRD:08435" /db_xref="MIM:606817" /translation="
MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSPIWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRSTQPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLPSPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYLSSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
" sig_peptide 82..150 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /inference="COORDINATES: ab initio prediction:SignalP:4.0" variation 88 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:376557082" variation 93 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="c" /db_xref="dbSNP:138459529" variation 96 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="g" /replace="t" /db_xref="dbSNP:188435679" exon 140..460 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /inference="alignment:Splign:1.39.8" variation 156 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:143960660" variation 169 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="g" /replace="t" /db_xref="dbSNP:371971484" variation 178 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:199894504" variation 219 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:373111406" variation 233 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="c" /db_xref="dbSNP:200942121" variation 241 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:146960695" variation 258 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:372102699" variation 276 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:137970521" variation 308 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:141630791" variation 349 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:201708224" variation 376 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:147986652" variation 391 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:150508492" variation 397 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:9471966" variation 405 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:201816889" variation 429 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:200182239" variation 452 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="t" /db_xref="dbSNP:141979329" exon 461..505 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /inference="alignment:Splign:1.39.8" exon 506..1083 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /inference="alignment:Splign:1.39.8" variation 608 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="c" /db_xref="dbSNP:376897338" variation 614 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:367893841" variation 615 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:184782115" variation 628 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:36111725" variation 640 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:187988655" variation 647 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:111782749" variation 655 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:373866603" variation 733 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:200928800" variation 734 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:369843415" variation 736 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:201876282" variation 755 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:373020262" variation 760 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:375988717" variation 761 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:146531157" variation 766 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:184524047" variation 770 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:200924110" variation 780 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:369095740" variation 783 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:112142292" variation 794 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:61745373" STS 805..986 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /standard_name="RH46834" /db_xref="UniSTS:16710" variation 826 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="c" /db_xref="dbSNP:371204759" variation 831 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:375457877" variation 835 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:115331994" variation 844 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="t" /db_xref="dbSNP:368573599" variation 847..848 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:1997554" variation 854 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:370217795" variation 916 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:372426467" variation 922 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:61743125" variation 929 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="g" /replace="t" /db_xref="dbSNP:368137542" variation 993 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="" /replace="c" /db_xref="dbSNP:34259318" polyA_signal 1054..1059 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" variation 1067 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="g" /replace="t" /db_xref="dbSNP:41274882" polyA_site 1083 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" ORIGIN
tagaaggcagtcttgtgggtgcctcctcccccagccgcaactcaggtctgcagctgggtcctgcctccttccgagtgggccatggccggtacatggctgctacttctcctggcccttgggtgtccagccctacccacaggtgtgggcggcacaccctttccttctctggccccaccaatcatgctgctggtggatggaaagcagcagatggtggtggtctgcctggtccttgatgttgcaccccctggccttgacagccccatctggttctcagccggcaatggcagtgcactggatgccttcacctatggcccttccccagcaacggatggcacctggaccaacttggcccatctctccctgccttctgaggagctggcatcctgggagcctttggtctgccacactgggcctggggctgagggtcacagcaggagtacacagcccatgcatctgtcaggagaggcttctacagccaggacctgcccccaggagcctctcagggggacaccgggtggggcgctgtggctgggggtcctgcggctgctgctcttcaagctgctgctgtttgacctgctcctgacctgcagctgcctgtgcgaccccgcgggcccgctgccttcccccgcaaccaccacccgcctgcgagccctcggctcccatcgactgcacccggccacggagactgggggacgagaggccaccagctcacccagaccccagcctcgggaccgccgctggggtgacacccctccgggtcggaagcccgggagcccagtatggggggaagggtcttacctcagcagttaccccacttgcccagcacaggcctggtgctcaagatctgccctcagggctccttcctccagtcttggagcattttttgcaggtgacctgcctcctcctctgcaggctggagctgcctgagggcagggctctacctcccctgcgtcacactgtgtgaggctgtgtctctgccatccaaaagggggccccttgagaatggtgatccacccagttacaggggcatttagggagcagatgactgagaacattaaaaaagaacttaaatgacacagcaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:171558 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:171558 -> Biological process: GO:0070244 [negative regulation of thymocyte apoptotic process] evidence: IEA GeneID:171558 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.