PTCRA_HUMAN
ID PTCRA_HUMAN Reviewed; 281 AA.
AC Q6ISU1; Q5TFZ7;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Pre T-cell antigen receptor alpha;
DE Short=pT-alpha;
DE Short=pTa;
DE AltName: Full=pT-alpha-TCR;
DE Flags: Precursor;
GN Name=PTCRA;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Thymus;
RX PubMed=8618853; DOI=10.1073/pnas.92.26.12105;
RA Del Porto P., Bruno L., Mattei M.-G., von Boehmer H., Saint-Ruf C.;
RT "Cloning and comparative analysis of the human pre-T-cell receptor alpha-
RT chain gene.";
RL Proc. Natl. Acad. Sci. U.S.A. 92:12105-12109(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lymphoblast;
RX PubMed=9842925;
RX DOI=10.1002/(sici)1521-4141(199811)28:11<3824::aid-immu3824>3.0.co;2-9;
RA Saint-Ruf C., Lechner O., Feinberg J., von Boehmer H.;
RT "Genomic structure of the human pre-T cell receptor alpha chain and
RT expression of two mRNA isoforms.";
RL Eur. J. Immunol. 28:3824-3831(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3).
RA Ramiro A.R., Toribio M.L.;
RT "Alternatively spliced human pre-T alpha chain, mRNA.";
RL Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-106.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 13-281 (ISOFORM 1), SUBUNIT, TISSUE
RP SPECIFICITY, AND DEVELOPMENTAL STAGE.
RC TISSUE=Thymus;
RX PubMed=8760805; DOI=10.1084/jem.184.2.519;
RA Ramiro A.R., Trigueros C., Marquez C., San Millan J.L., Toribio M.L.;
RT "Regulation of pre-T cell receptor (pT alpha-TCR beta) gene expression
RT during human thymic development.";
RL J. Exp. Med. 184:519-530(1996).
RN [7]
RP INTERACTION WITH RHBDD1.
RX PubMed=22795130; DOI=10.1016/j.molcel.2012.06.008;
RA Fleig L., Bergbold N., Sahasrabudhe P., Geiger B., Kaltak L., Lemberg M.K.;
RT "Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of
RT membrane proteins.";
RL Mol. Cell 47:558-569(2012).
RN [8]
RP X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 17-135, SUBUNIT, DISULFIDE BOND,
RP AND GLYCOSYLATION AT ASN-67.
RX PubMed=20944746; DOI=10.1038/nature09448;
RA Pang S.S., Berry R., Chen Z., Kjer-Nielsen L., Perugini M.A., King G.F.,
RA Wang C., Chew S.H., La Gruta N.L., Williams N.K., Beddoe T., Tiganis T.,
RA Cowieson N.P., Godfrey D.I., Purcell A.W., Wilce M.C., McCluskey J.,
RA Rossjohn J.;
RT "The structural basis for autonomous dimerization of the pre-T-cell antigen
RT receptor.";
RL Nature 467:844-848(2010).
CC -!- FUNCTION: The pre-T-cell receptor complex (composed of PTCRA, TCRB and
CC the CD3 complex) regulates early T-cell development. {ECO:0000250}.
CC -!- SUBUNIT: Heterodimer with TCRB; disulfide linked. This heterodimer
CC assembles with CD3 proteins into a signaling-competent pre-T-cell
CC receptor complex. Interacts with RHBDD1. {ECO:0000269|PubMed:20944746,
CC ECO:0000269|PubMed:22795130, ECO:0000269|PubMed:8760805}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=pTalpha-1;
CC IsoId=Q6ISU1-1; Sequence=Displayed;
CC Name=2; Synonyms=pTalpha-2;
CC IsoId=Q6ISU1-2; Sequence=VSP_031445;
CC Name=3;
CC IsoId=Q6ISU1-3; Sequence=VSP_031446;
CC -!- TISSUE SPECIFICITY: Expressed in immature but not mature T-cells. Also
CC found in CD34+ cells from peripheral blood, CD34+ precursors from
CC umbilical cord blood and adult bone marrow.
CC {ECO:0000269|PubMed:8618853, ECO:0000269|PubMed:8760805}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal life in CD34+ progenitors
CC present in the liver at 18 weeks of gestation but is absent in CD34+
CC precursors from fetal bone marrow at any developmental stage up to 22
CC weeks. {ECO:0000269|PubMed:8760805}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; U36759; AAB06194.1; -; mRNA.
DR EMBL; AF084941; AAC83346.1; -; Genomic_DNA.
DR EMBL; AF101436; AAF21890.1; -; mRNA.
DR EMBL; AF165312; AAF89556.1; -; mRNA.
DR EMBL; AL035587; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC069336; AAH69336.1; -; mRNA.
DR EMBL; BC100771; AAI00772.1; -; mRNA.
DR EMBL; BC100772; AAI00773.1; -; mRNA.
DR EMBL; BC100773; AAI00774.1; -; mRNA.
DR EMBL; BC100774; AAI00775.1; -; mRNA.
DR EMBL; BC153829; AAI53830.1; -; mRNA.
DR EMBL; U38996; AAB18373.1; -; mRNA.
DR CCDS; CCDS4874.1; -. [Q6ISU1-1]
DR CCDS; CCDS59019.1; -. [Q6ISU1-3]
DR CCDS; CCDS59020.1; -. [Q6ISU1-2]
DR RefSeq; NP_001230097.1; NM_001243168.1.
DR RefSeq; NP_001230098.1; NM_001243169.1. [Q6ISU1-3]
DR RefSeq; NP_001230099.1; NM_001243170.1. [Q6ISU1-2]
DR RefSeq; NP_612153.2; NM_138296.2. [Q6ISU1-1]
DR PDB; 3OF6; X-ray; 2.80 A; D/E/F=17-135.
DR PDBsum; 3OF6; -.
DR AlphaFoldDB; Q6ISU1; -.
DR SMR; Q6ISU1; -.
DR BioGRID; 128144; 24.
DR IntAct; Q6ISU1; 4.
DR MINT; Q6ISU1; -.
DR STRING; 9606.ENSP00000477815; -.
DR GlyGen; Q6ISU1; 1 site.
DR iPTMnet; Q6ISU1; -.
DR PhosphoSitePlus; Q6ISU1; -.
DR BioMuta; PTCRA; -.
DR DMDM; 74736631; -.
DR PaxDb; Q6ISU1; -.
DR PeptideAtlas; Q6ISU1; -.
DR PRIDE; Q6ISU1; -.
DR Antibodypedia; 57244; 121 antibodies from 22 providers.
DR DNASU; 171558; -.
DR Ensembl; ENST00000304672.6; ENSP00000304447.2; ENSG00000171611.10. [Q6ISU1-1]
DR Ensembl; ENST00000441198.4; ENSP00000409550.1; ENSG00000171611.10. [Q6ISU1-3]
DR Ensembl; ENST00000446507.5; ENSP00000392288.1; ENSG00000171611.10. [Q6ISU1-2]
DR GeneID; 171558; -.
DR KEGG; hsa:171558; -.
DR MANE-Select; ENST00000304672.6; ENSP00000304447.2; NM_138296.3; NP_612153.2.
DR UCSC; uc003osx.4; human. [Q6ISU1-1]
DR CTD; 171558; -.
DR DisGeNET; 171558; -.
DR GeneCards; PTCRA; -.
DR HGNC; HGNC:21290; PTCRA.
DR HPA; ENSG00000171611; Tissue enriched (lymphoid).
DR MIM; 606817; gene.
DR neXtProt; NX_Q6ISU1; -.
DR OpenTargets; ENSG00000171611; -.
DR PharmGKB; PA134993184; -.
DR VEuPathDB; HostDB:ENSG00000171611; -.
DR eggNOG; ENOG502SAGI; Eukaryota.
DR GeneTree; ENSGT00390000007712; -.
DR HOGENOM; CLU_082600_0_0_1; -.
DR InParanoid; Q6ISU1; -.
DR OrthoDB; 1383750at2759; -.
DR PhylomeDB; Q6ISU1; -.
DR TreeFam; TF337868; -.
DR PathwayCommons; Q6ISU1; -.
DR Reactome; R-HSA-9013508; NOTCH3 Intracellular Domain Regulates Transcription.
DR SignaLink; Q6ISU1; -.
DR SIGNOR; Q6ISU1; -.
DR BioGRID-ORCS; 171558; 11 hits in 1068 CRISPR screens.
DR EvolutionaryTrace; Q6ISU1; -.
DR GenomeRNAi; 171558; -.
DR Pharos; Q6ISU1; Tbio.
DR PRO; PR:Q6ISU1; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q6ISU1; protein.
DR Bgee; ENSG00000171611; Expressed in olfactory bulb and 145 other tissues.
DR ExpressionAtlas; Q6ISU1; baseline and differential.
DR Genevisible; Q6ISU1; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0070244; P:negative regulation of thymocyte apoptotic process; IBA:GO_Central.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR027834; PTCRA.
DR PANTHER; PTHR37866; PTHR37866; 1.
DR Pfam; PF15028; PTCRA; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Disulfide bond; Glycoprotein; Membrane;
KW Receptor; Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..281
FT /note="Pre T-cell antigen receptor alpha"
FT /id="PRO_0000319108"
FT TOPO_DOM 24..146
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 147..167
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 168..281
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 196..233
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 67
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:20944746"
FT DISULFID 47..107
FT /evidence="ECO:0000269|PubMed:20944746"
FT DISULFID 135
FT /note="Interchain (with TCRB)"
FT /evidence="ECO:0000305|PubMed:20944746"
FT VAR_SEQ 20..126
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_031445"
FT VAR_SEQ 21..59
FT /note="VGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDS -> PVSFPSSPE
FT AATTG (in isoform 3)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_031446"
FT VARIANT 106
FT /note="V -> I (in dbSNP:rs9471966)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_038957"
FT VARIANT 183
FT /note="A -> T (in dbSNP:rs36111725)"
FT /id="VAR_038958"
FT CONFLICT 256
FT /note="A -> R (in Ref. 1; AAB06194, 2; AAC83346, 3;
FT AAF89556 and 6; AAB18373)"
FT /evidence="ECO:0000305"
FT CONFLICT 269
FT /note="A -> R (in Ref. 1; AAB06194)"
FT /evidence="ECO:0000305"
FT STRAND 33..52
FT /evidence="ECO:0007829|PDB:3OF6"
FT STRAND 62..64
FT /evidence="ECO:0007829|PDB:3OF6"
FT STRAND 66..68
FT /evidence="ECO:0007829|PDB:3OF6"
FT STRAND 79..81
FT /evidence="ECO:0007829|PDB:3OF6"
FT TURN 82..84
FT /evidence="ECO:0007829|PDB:3OF6"
FT STRAND 85..95
FT /evidence="ECO:0007829|PDB:3OF6"
FT HELIX 96..100
FT /evidence="ECO:0007829|PDB:3OF6"
FT STRAND 104..109
FT /evidence="ECO:0007829|PDB:3OF6"
SQ SEQUENCE 281 AA; 29266 MW; A49B86A151619B9F CRC64;
MAGTWLLLLL ALGCPALPTG VGGTPFPSLA PPIMLLVDGK QQMVVVCLVL DVAPPGLDSP
IWFSAGNGSA LDAFTYGPSP ATDGTWTNLA HLSLPSEELA SWEPLVCHTG PGAEGHSRST
QPMHLSGEAS TARTCPQEPL RGTPGGALWL GVLRLLLFKL LLFDLLLTCS CLCDPAGPLP
SPATTTRLRA LGSHRLHPAT ETGGREATSS PRPQPRDRRW GDTPPGRKPG SPVWGEGSYL
SSYPTCPAQA WCSRSALRAP SSSLGAFFAG DLPPPLQAGA A
