2024-03-30 00:42:46, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001243169 1022 bp mRNA linear PRI 12-MAY-2013 DEFINITION Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 3, mRNA. ACCESSION NM_001243169 VERSION NM_001243169.1 GI:341926170 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 1022) 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 1022) 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 1022) 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 1022) 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 1022) 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 1022) 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 1022) 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 1022) 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 1022) 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 1022) 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, AF165312.1, BC153829.1 and AW014894.1. 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 (3) uses alternate in-frame splice junctions at the 5' ends of two exons and contains an alternate in-frame exon compared to variant 1. The resulting isoform (3) contains an alternate internal segment but lacks two others compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AF165312.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-81 U36759.1 1-81 82-771 AF165312.1 1-690 772-974 BC153829.1 789-991 975-1022 AW014894.1 1-48 c FEATURES Location/Qualifiers source 1..1022 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p21.3" gene 1..1022 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /note="pre T-cell antigen receptor alpha" /db_xref="GeneID:171558" /db_xref="HGNC:21290" /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..902 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /db_xref="UniSTS:480837" STS 59..974 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /db_xref="UniSTS:484104" CDS 82..852 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /note="isoform 3 precursor is encoded by transcript variant 3; pre-T-cell receptor alpha chain; pT-alpha-TCR" /codon_start=1 /product="pre T-cell antigen receptor alpha isoform 3 precursor" /protein_id="NP_001230098.1" /db_xref="GI:341926171" /db_xref="CCDS:CCDS59019.1" /db_xref="GeneID:171558" /db_xref="HGNC:21290" /db_xref="MIM:606817" /translation="
MAGTWLLLLLALGCPALPTGPVSFPSSPEAATTGPIWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRSTQPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLPSPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYLSSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
" sig_peptide 82..135 /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..182 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /inference="alignment:Splign:1.39.8" exon 183..385 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /inference="alignment:Splign:1.39.8" variation 183 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:372102699" variation 201 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:137970521" variation 233 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:141630791" variation 274 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:201708224" variation 301 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:147986652" variation 316 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:150508492" variation 322 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:9471966" variation 330 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:201816889" variation 354 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:200182239" variation 377 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="t" /db_xref="dbSNP:141979329" exon 386..430 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /inference="alignment:Splign:1.39.8" exon 431..1008 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /inference="alignment:Splign:1.39.8" variation 533 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="c" /db_xref="dbSNP:376897338" variation 539 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:367893841" variation 540 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:184782115" variation 553 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:36111725" variation 565 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:187988655" variation 572 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:111782749" variation 580 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:373866603" variation 658 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:200928800" variation 659 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:369843415" variation 661 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:201876282" variation 680 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:373020262" variation 685 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:375988717" variation 686 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:146531157" variation 691 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:184524047" variation 695 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:200924110" variation 705 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:369095740" variation 708 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:112142292" variation 719 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:61745373" STS 730..911 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /standard_name="RH46834" /db_xref="UniSTS:16710" variation 751 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="c" /db_xref="dbSNP:371204759" variation 756 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:375457877" variation 760 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="t" /db_xref="dbSNP:115331994" variation 769 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="t" /db_xref="dbSNP:368573599" variation 772..773 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="c" /replace="g" /db_xref="dbSNP:1997554" variation 779 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:370217795" variation 841 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:372426467" variation 847 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="a" /replace="g" /db_xref="dbSNP:61743125" variation 854 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="g" /replace="t" /db_xref="dbSNP:368137542" variation 918 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="" /replace="c" /db_xref="dbSNP:34259318" polyA_signal 979..984 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" variation 992 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" /replace="g" /replace="t" /db_xref="dbSNP:41274882" polyA_site 1008 /gene="PTCRA" /gene_synonym="PT-ALPHA; PTA" ORIGIN
tagaaggcagtcttgtgggtgcctcctcccccagccgcaactcaggtctgcagctgggtcctgcctccttccgagtgggccatggccggtacatggctgctacttctcctggcccttgggtgtccagccctacccacaggtcctgtttccttcccttcctcaccagaggctgccacaacaggccccatctggttctcagccggcaatggcagtgcactggatgccttcacctatggcccttccccagcaacggatggcacctggaccaacttggcccatctctccctgccttctgaggagctggcatcctgggagcctttggtctgccacactgggcctggggctgagggtcacagcaggagtacacagcccatgcatctgtcaggagaggcttctacagccaggacctgcccccaggagcctctcagggggacaccgggtggggcgctgtggctgggggtcctgcggctgctgctcttcaagctgctgctgtttgacctgctcctgacctgcagctgcctgtgcgaccccgcgggcccgctgccttcccccgcaaccaccacccgcctgcgagccctcggctcccatcgactgcacccggccacggagactgggggacgagaggccaccagctcacccagaccccagcctcgggaccgccgctggggtgacacccctccgggtcggaagcccgggagcccagtatggggggaagggtcttacctcagcagttaccccacttgcccagcacaggcctggtgctcaagatctgccctcagggctccttcctccagtcttggagcattttttgcaggtgacctgcctcctcctctgcaggctggagctgcctgagggcagggctctacctcccctgcgtcacactgtgtgaggctgtgtctctgccatccaaaagggggccccttgagaatggtgatccacccagttacaggggcatttagggagcagatgactgagaacattaaaaaagaacttaaatgacacagcaaaaaaaaaaaaaaaaa
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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
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