THEG_HUMAN
ID THEG_HUMAN Reviewed; 379 AA.
AC Q9P2T0; A6NMJ8;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Testicular haploid expressed gene protein;
DE AltName: Full=Cancer/testis antigen 56;
DE Short=CT56;
GN Name=THEG;
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] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, AND
RP ALTERNATIVE SPLICING.
RX PubMed=11173852; DOI=10.1159/000056840;
RA Mannan A., Lucke K., Dixkens C., Neesen J., Kamper M., Engel W.,
RA Burfeind P.;
RT "Alternative splicing, chromosome assignment and subcellular localization
RT of the testicular haploid expressed gene (THEG).";
RL Cytogenet. Cell Genet. 91:171-179(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=10747865; DOI=10.1074/jbc.c901047199;
RA Yanaka N., Kobayashi K., Wakimoto K., Yamada E., Imahie H., Imai Y.,
RA Mori C.;
RT "Insertional mutation of the murine kisimo locus caused a defect in
RT spermatogenesis.";
RL J. Biol. Chem. 275:14791-14794(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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).
CC -!- FUNCTION: May be involved (but not essential) in spermatogenesis.
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with CCT5. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9P2T0; Q01658: DR1; NbExp=3; IntAct=EBI-751020, EBI-750300;
CC Q9P2T0; Q13643: FHL3; NbExp=4; IntAct=EBI-751020, EBI-741101;
CC Q9P2T0; P06396: GSN; NbExp=3; IntAct=EBI-751020, EBI-351506;
CC Q9P2T0; O00291: HIP1; NbExp=3; IntAct=EBI-751020, EBI-473886;
CC Q9P2T0; P13473-2: LAMP2; NbExp=3; IntAct=EBI-751020, EBI-21591415;
CC Q9P2T0; Q99750: MDFI; NbExp=3; IntAct=EBI-751020, EBI-724076;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Localized
CC predominantly in the nucleus of haploid round spermatid. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=THEG major;
CC IsoId=Q9P2T0-1; Sequence=Displayed;
CC Name=2; Synonyms=THEG minor;
CC IsoId=Q9P2T0-2; Sequence=VSP_028446;
CC -!- TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:11173852}.
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DR EMBL; AF268610; AAG17663.1; -; mRNA.
DR EMBL; AB033129; BAA93718.1; -; mRNA.
DR EMBL; AC016588; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471242; EAW61204.1; -; Genomic_DNA.
DR EMBL; BC028574; AAH28574.1; -; mRNA.
DR CCDS; CCDS12025.1; -. [Q9P2T0-1]
DR CCDS; CCDS12026.1; -. [Q9P2T0-2]
DR RefSeq; NP_057669.1; NM_016585.4. [Q9P2T0-1]
DR RefSeq; NP_954672.1; NM_199202.2. [Q9P2T0-2]
DR AlphaFoldDB; Q9P2T0; -.
DR BioGRID; 119449; 11.
DR IntAct; Q9P2T0; 6.
DR STRING; 9606.ENSP00000340088; -.
DR iPTMnet; Q9P2T0; -.
DR PhosphoSitePlus; Q9P2T0; -.
DR BioMuta; THEG; -.
DR DMDM; 74734914; -.
DR MassIVE; Q9P2T0; -.
DR PaxDb; Q9P2T0; -.
DR PeptideAtlas; Q9P2T0; -.
DR PRIDE; Q9P2T0; -.
DR ProteomicsDB; 83894; -. [Q9P2T0-1]
DR ProteomicsDB; 83895; -. [Q9P2T0-2]
DR Antibodypedia; 22292; 46 antibodies from 12 providers.
DR DNASU; 51298; -.
DR Ensembl; ENST00000342640.9; ENSP00000340088.3; ENSG00000105549.11. [Q9P2T0-1]
DR Ensembl; ENST00000346878.3; ENSP00000264820.3; ENSG00000105549.11. [Q9P2T0-2]
DR GeneID; 51298; -.
DR KEGG; hsa:51298; -.
DR MANE-Select; ENST00000342640.9; ENSP00000340088.3; NM_016585.5; NP_057669.1.
DR UCSC; uc002lol.3; human. [Q9P2T0-1]
DR CTD; 51298; -.
DR DisGeNET; 51298; -.
DR GeneCards; THEG; -.
DR HGNC; HGNC:13706; THEG.
DR HPA; ENSG00000105549; Tissue enriched (testis).
DR MIM; 609503; gene.
DR neXtProt; NX_Q9P2T0; -.
DR OpenTargets; ENSG00000105549; -.
DR PharmGKB; PA134953737; -.
DR VEuPathDB; HostDB:ENSG00000105549; -.
DR eggNOG; ENOG502S0P4; Eukaryota.
DR GeneTree; ENSGT00940000154630; -.
DR HOGENOM; CLU_061711_0_0_1; -.
DR InParanoid; Q9P2T0; -.
DR OMA; YAWISPR; -.
DR OrthoDB; 1299841at2759; -.
DR PhylomeDB; Q9P2T0; -.
DR TreeFam; TF329290; -.
DR PathwayCommons; Q9P2T0; -.
DR SignaLink; Q9P2T0; -.
DR BioGRID-ORCS; 51298; 9 hits in 1068 CRISPR screens.
DR GenomeRNAi; 51298; -.
DR Pharos; Q9P2T0; Tdark.
DR PRO; PR:Q9P2T0; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9P2T0; protein.
DR Bgee; ENSG00000105549; Expressed in left testis and 48 other tissues.
DR ExpressionAtlas; Q9P2T0; baseline and differential.
DR Genevisible; Q9P2T0; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0051131; P:chaperone-mediated protein complex assembly; TAS:ProtInc.
DR GO; GO:0007283; P:spermatogenesis; IBA:GO_Central.
DR InterPro; IPR006623; THEG.
DR InterPro; IPR042401; THEG-like.
DR PANTHER; PTHR15901; PTHR15901; 1.
DR Pfam; PF14912; THEG; 2.
DR SMART; SM00705; THEG; 6.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; Differentiation; Nucleus;
KW Phosphoprotein; Reference proteome; Repeat; Spermatogenesis.
FT CHAIN 1..379
FT /note="Testicular haploid expressed gene protein"
FT /id="PRO_0000306267"
FT REPEAT 118..137
FT /note="THEG 1"
FT REPEAT 184..203
FT /note="THEG 2"
FT REPEAT 222..241
FT /note="THEG 3"
FT REPEAT 258..277
FT /note="THEG 4"
FT REPEAT 290..309
FT /note="THEG 5"
FT REPEAT 326..345
FT /note="THEG 6"
FT REGION 1..82
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 344..379
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..18
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 40..54
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 55..73
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 295
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5XHX8"
FT VAR_SEQ 145..168
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11173852"
FT /id="VSP_028446"
FT VARIANT 202
FT /note="R -> I (in dbSNP:rs2303810)"
FT /id="VAR_035286"
FT VARIANT 267
FT /note="R -> Q (in dbSNP:rs2278287)"
FT /id="VAR_035287"
FT VARIANT 297
FT /note="H -> Y (in dbSNP:rs10422863)"
FT /id="VAR_035288"
FT VARIANT 353
FT /note="D -> N (in dbSNP:rs3764656)"
FT /id="VAR_035289"
SQ SEQUENCE 379 AA; 43444 MW; DE1B6397A4FAA875 CRC64;
MGDSRRRSLG NQPSSEAAGR SEREQDGDPR GLQSSVYESR RVTDPERQDL DNAELGPEDP
EEELPPEEVA GEEFPETLDP KEALSELERV LDKDLEEDIP EISRLSISQK LPSTTMTKAR
KRRRRRRLME LAEPKINWQV LKDRKGRCGK GYAWISPCKM SLHFCLCWPS VYWTERFLED
TTLTITVPAV SRRVEELSRP KRFYLEYYNN NRTTPVWPIP RSSLEYRASS RLKELAAPKI
RDNFWSMPMS EVSQVSRAAQ MAVPSSRILQ LSKPKAPATL LEEWDPVPKP KPHVSDHNRL
LHLARPKAQS DKCVPDRDPR WEVLDVTKKV VASPRIISLA KPKVRKGLNE GYDRRPLASM
SLPPPKASPE KCDQPRPGL
