TVB17_HUMAN
ID TVB17_HUMAN Reviewed; 114 AA.
AC A0A087X0K7;
DT 07-OCT-2020, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2016, sequence version 6.
DT 03-AUG-2022, entry version 46.
DE RecName: Full=Probable non-functional T cell receptor beta variable 17 {ECO:0000305};
DE Flags: Precursor;
GN Name=TRBV17 {ECO:0000303|Ref.3, ECO:0000312|HGNC:HGNC:12192};
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 [LARGE SCALE GENOMIC DNA] (IMGT ALLELE TRBV17*02).
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [2]
RP CHARACTERIZATION.
RX PubMed=9619395; DOI=10.1159/000019049;
RA Lefranc M.P.;
RT "IMGT (ImMunoGeneTics) locus on focus. A new section of Experimental and
RT Clinical Immunogenetics.";
RL Exp. Clin. Immunogenet. 15:1-7(1998).
RN [3]
RP NOMENCLATURE.
RA Lefranc M.P., Lefranc G.;
RT "The T Cell Receptor FactsBook.";
RL (In) Lefranc M.P., Lefranc G. (eds.);
RL The T Cell Receptor FactsBook., pp.1-397, Academic Press, London. (2001).
RN [4]
RP REVIEW ON T CELL REPERTOIRE DIVERSITY.
RX PubMed=15040585; DOI=10.1038/nri1292;
RA Nikolich-Zugich J., Slifka M.K., Messaoudi I.;
RT "The many important facets of T-cell repertoire diversity.";
RL Nat. Rev. Immunol. 4:123-132(2004).
RN [5]
RP REVIEW ON T CELL RECEPTOR-CD3 COMPLEX ASSEMBLY, AND SUBCELLULAR LOCATION.
RX PubMed=20452950; DOI=10.1101/cshperspect.a005140;
RA Wucherpfennig K.W., Gagnon E., Call M.J., Huseby E.S., Call M.E.;
RT "Structural biology of the T-cell receptor: insights into receptor
RT assembly, ligand recognition, and initiation of signaling.";
RL Cold Spring Harb. Perspect. Biol. 2:A005140-A005140(2010).
RN [6]
RP REVIEW ON T CELL RECEPTOR SIGNALING.
RX PubMed=23524462; DOI=10.1038/nri3403;
RA Brownlie R.J., Zamoyska R.;
RT "T cell receptor signalling networks: branched, diversified and bounded.";
RL Nat. Rev. Immunol. 13:257-269(2013).
RN [7]
RP NOMENCLATURE.
RX PubMed=24600447; DOI=10.3389/fimmu.2014.00022;
RA Lefranc M.P.;
RT "Immunoglobulin and T Cell Receptor Genes: IMGT((R)) and the Birth and Rise
RT of Immunoinformatics.";
RL Front. Immunol. 5:22-22(2014).
RN [8]
RP REVIEW ON FUNCTION.
RX PubMed=25493333; DOI=10.1146/annurev-immunol-032414-112334;
RA Rossjohn J., Gras S., Miles J.J., Turner S.J., Godfrey D.I., McCluskey J.;
RT "T cell antigen receptor recognition of antigen-presenting molecules.";
RL Annu. Rev. Immunol. 33:169-200(2015).
CC -!- FUNCTION: Probable non-functional open reading frame (ORF) of V region
CC of the variable domain of T cell receptor (TR) beta chain
CC (PubMed:24600447). Non-functional ORF generally cannot participate in
CC the synthesis of a productive T cell receptor (TR) chain due to altered
CC V-(D)-J or switch recombination and/or splicing site (at mRNA level)
CC and/or conserved amino acid change (protein level) (PubMed:9619395).
CC Alpha-beta T cell receptors are antigen specific receptors which are
CC essential to the immune response and are present on the cell surface of
CC T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH)
CC complexes that are displayed by antigen presenting cells (APC), a
CC prerequisite for efficient T cell adaptive immunity against pathogens
CC (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates
CC TR-CD3 clustering on the cell surface and intracellular activation of
CC LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247
CC enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT,
CC which recruits numerous signaling molecules to form the LAT
CC signalosome. The LAT signalosome propagates signal branching to three
CC major signaling pathways, the calcium, the mitogen-activated protein
CC kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB)
CC pathways, leading to the mobilization of transcription factors that are
CC critical for gene expression and essential for T cell growth and
CC differentiation (PubMed:23524462). The T cell repertoire is generated
CC in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped
CC by intrathymic selection events to generate a peripheral T cell pool of
CC self-MH restricted, non-autoaggressive T cells. Post-thymic interaction
CC of alpha-beta TR with the pMH complexes shapes TR structural and
CC functional avidity (PubMed:15040585). {ECO:0000269|PubMed:9619395,
CC ECO:0000303|PubMed:15040585, ECO:0000303|PubMed:23524462,
CC ECO:0000303|PubMed:24600447, ECO:0000303|PubMed:25493333}.
CC -!- SUBUNIT: Most probably, the alpha-beta TR is not assembled due to
CC incorrect folding of the beta chain (Probable). Alpha-beta TR is a
CC heterodimer composed of an alpha and beta chain; disulfide-linked. The
CC alpha-beta TR is associated with the transmembrane signaling CD3
CC coreceptor proteins to form the TR-CD3 (TcR or TCR). The assembly of
CC alpha-beta TR heterodimers with CD3 occurs in the endoplasmic reticulum
CC where a single alpha-beta TR heterodimer associates with one CD3D-CD3E
CC heterodimer, one CD3G-CD3E heterodimer and one CD247 homodimer forming
CC a stable octomeric structure. CD3D-CD3E and CD3G-CD3E heterodimers
CC preferentially associate with TR alpha and TR beta chains,
CC respectively. The association of the CD247 homodimer is the last step
CC of TcR assembly in the endoplasmic reticulum and is required for
CC transport to the cell surface. {ECO:0000303|PubMed:20452950,
CC ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000303|PubMed:20452950}.
CC -!- POLYMORPHISM: There are several alleles. The sequence shown is that of
CC IMGT allele TRBV17*02. {ECO:0000305}.
CC -!- CAUTION: Most probably a non-functional protein that cannot participate
CC to the synthesis of a productive T cell receptor (TR) chain due to a
CC mutation at position 111, corresponding to the second cysteine from the
CC disulfide bridge, potentially leading to uncorrect folding
CC (PubMed:9619395). {ECO:0000303|PubMed:9619395, ECO:0000305}.
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DR EMBL; AC229888; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC244472; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; A0A087X0K7; -.
DR SMR; A0A087X0K7; -.
DR GlyGen; A0A087X0K7; 1 site.
DR BioMuta; ENSG00000277880; -.
DR Ensembl; ENST00000619103.1; ENSP00000483468.1; ENSG00000277880.1.
DR Ensembl; ENST00000631663.1; ENSP00000488775.1; ENSG00000282483.1.
DR UCSC; uc064iss.1; human.
DR GeneCards; TRBV17; -.
DR HGNC; HGNC:12192; TRBV17.
DR neXtProt; NX_A0A087X0K7; -.
DR VEuPathDB; HostDB:ENSG00000277880; -.
DR GeneTree; ENSGT00940000154460; -.
DR HOGENOM; CLU_077975_9_4_1; -.
DR OMA; FVHWYRQ; -.
DR ChiTaRS; TRBV17; human.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; A0A087X0K7; protein.
DR Bgee; ENSG00000277880; Expressed in bone marrow and 16 other tissues.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0042101; C:T cell receptor complex; IEA:UniProtKB-KW.
DR GO; GO:0002250; P:adaptive immune response; IEA:UniProtKB-KW.
DR GO; GO:0007166; P:cell surface receptor signaling pathway; IBA:GO_Central.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013106; Ig_V-set.
DR Pfam; PF07686; V-set; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW Adaptive immunity; Cell membrane; Glycoprotein; Immunity;
KW Immunoglobulin domain; Membrane; Receptor; Reference proteome; Signal;
KW T cell receptor.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..114
FT /note="Probable non-functional T cell receptor beta
FT variable 17"
FT /evidence="ECO:0000255"
FT /id="PRO_5014503719"
FT DOMAIN 21..>114
FT /note="Ig-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT CARBOHYD 90
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT NON_TER 114
SQ SEQUENCE 114 AA; 12963 MW; 7E044B8DC3FA767D CRC64;
MDIWLLCWVT LCLLAAGHSE PGVSQTPRHK VTNMGQEVIL RCDPSSGHMF VHWYRQNLRQ
EMKLLISFQY QNIAVDSGMP KERFTAERPN GTSSTLKIHP AEPRDSAVYL YSSG
