Home |
Help |
Advanced search
2024-04-17 04:04:06, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001243168 1142 bp mRNA linear PRI 12-MAY-2013
DEFINITION Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript
variant 1, mRNA.
ACCESSION NM_001243168
VERSION NM_001243168.1 GI:341926168
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 1142)
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 1142)
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 1142)
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 1142)
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 1142)
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 1142)
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 1142)
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 1142)
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 1142)
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 1142)
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, AK130819.1,
BC153829.1 and AW014894.1.
This sequence is a reference standard in the RefSeqGene project.
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 (1) represents the longest
transcript and encodes the longest isoform (1).
##Evidence-Data-START##
Transcript exon combination :: BP367764.1, BP367764.1 [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
1-66 U36759.1 1-66
67-611 AK130819.1 1-545
612-1094 BC153829.1 509-991
1095-1142 AW014894.1 1-48 c
FEATURES Location/Qualifiers
source 1..1142
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p21.3"
gene 1..1142
/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..1022
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/db_xref="UniSTS:480837"
STS 59..1094
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/db_xref="UniSTS:484104"
CDS 82..972
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/note="isoform 1 precursor is encoded by transcript
variant 1; pre-T-cell receptor alpha chain; pT-alpha-TCR"
/codon_start=1
/product="pre T-cell antigen receptor alpha isoform 1
precursor"
/protein_id="NP_001230097.1"
/db_xref="GI:341926169"
/db_xref="GeneID:171558"
/db_xref="HGNC:21290"
/db_xref="MIM:606817"
/translation="
MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSPIWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRSTQPMHLSGEASTARTCPQEPLRGGCGLLRAPERFLLAGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLPSPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYLSSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
"
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..1128
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/inference="alignment:Splign:1.39.8"
variation 513
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="t"
/db_xref="dbSNP:368405128"
variation 514
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:199980862"
variation 653
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="c"
/db_xref="dbSNP:376897338"
variation 659
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="t"
/db_xref="dbSNP:367893841"
variation 660
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:184782115"
variation 673
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:36111725"
variation 685
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="t"
/db_xref="dbSNP:187988655"
variation 692
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:111782749"
variation 700
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:373866603"
variation 778
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="t"
/db_xref="dbSNP:200928800"
variation 779
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:369843415"
variation 781
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="t"
/db_xref="dbSNP:201876282"
variation 800
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="t"
/db_xref="dbSNP:373020262"
variation 805
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="t"
/db_xref="dbSNP:375988717"
variation 806
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:146531157"
variation 811
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="g"
/db_xref="dbSNP:184524047"
variation 815
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:200924110"
variation 825
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:369095740"
variation 828
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="g"
/db_xref="dbSNP:112142292"
variation 839
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="t"
/db_xref="dbSNP:61745373"
STS 850..1031
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/standard_name="RH46834"
/db_xref="UniSTS:16710"
variation 871
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="c"
/db_xref="dbSNP:371204759"
variation 876
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="t"
/db_xref="dbSNP:375457877"
variation 880
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="t"
/db_xref="dbSNP:115331994"
variation 889
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="t"
/db_xref="dbSNP:368573599"
variation 892..893
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="c"
/replace="g"
/db_xref="dbSNP:1997554"
variation 899
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:370217795"
variation 961
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:372426467"
variation 967
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="a"
/replace="g"
/db_xref="dbSNP:61743125"
variation 974
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="g"
/replace="t"
/db_xref="dbSNP:368137542"
variation 1038
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace=""
/replace="c"
/db_xref="dbSNP:34259318"
polyA_signal 1099..1104
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
variation 1112
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
/replace="g"
/replace="t"
/db_xref="dbSNP:41274882"
polyA_site 1128
/gene="PTCRA"
/gene_synonym="PT-ALPHA; PTA"
ORIGIN
tagaaggcagtcttgtgggtgcctcctcccccagccgcaactcaggtctgcagctgggtcctgcctccttccgagtgggccatggccggtacatggctgctacttctcctggcccttgggtgtccagccctacccacaggtgtgggcggcacaccctttccttctctggccccaccaatcatgctgctggtggatggaaagcagcagatggtggtggtctgcctggtccttgatgttgcaccccctggccttgacagccccatctggttctcagccggcaatggcagtgcactggatgccttcacctatggcccttccccagcaacggatggcacctggaccaacttggcccatctctccctgccttctgaggagctggcatcctgggagcctttggtctgccacactgggcctggggctgagggtcacagcaggagtacacagcccatgcatctgtcaggagaggcttctacagccaggacctgcccccaggagcctctcagggggggctgcgggctcctgcgggctcctgagcggttcctcctcgcagggacaccgggtggggcgctgtggctgggggtcctgcggctgctgctcttcaagctgctgctgtttgacctgctcctgacctgcagctgcctgtgcgaccccgcgggcccgctgccttcccccgcaaccaccacccgcctgcgagccctcggctcccatcgactgcacccggccacggagactgggggacgagaggccaccagctcacccagaccccagcctcgggaccgccgctggggtgacacccctccgggtcggaagcccgggagcccagtatggggggaagggtcttacctcagcagttaccccacttgcccagcacaggcctggtgctcaagatctgccctcagggctccttcctccagtcttggagcattttttgcaggtgacctgcctcctcctctgcaggctggagctgcctgagggcagggctctacctcccctgcgtcacactgtgtgaggctgtgtctctgccatccaaaagggggccccttgagaatggtgatccacccagttacaggggcatttagggagcagatgactgagaacattaaaaaagaacttaaatgacacagcaaaaaaaaaaaaaaaaa
//
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.