THEG_MOUSE
ID THEG_MOUSE Reviewed; 375 AA.
AC Q9JMB1; Q6P8H9; Q9QZ27;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Testicular haploid expressed gene protein;
GN Name=Theg;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, TISSUE
RP SPECIFICITY, AND DEVELOPMENTAL STAGE (ISOFORMS 1 AND 2).
RC TISSUE=Testis;
RX PubMed=10330110; DOI=10.1095/biolreprod60.6.1488;
RA Nayernia K., von Mering M.H., Kraszucka K., Burfeind P., Wehrend A.,
RA Koehler M., Schmid M., Engel W.;
RT "A novel testicular haploid expressed gene (THEG) involved in mouse
RT spermatid-sertoli cell interaction.";
RL Biol. Reprod. 60:1488-1495(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, TISSUE
RP SPECIFICITY, INTERACTION WITH CCT5, AND DISRUPTION PHENOTYPE.
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 MRNA] (ISOFORM 2).
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).
RN [4]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
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 [5]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE,
RP AND DISRUPTION PHENOTYPE.
RX PubMed=12748127; DOI=10.1095/biolreprod.103.017400;
RA Mannan A.U., Nayernia K., Mueller C., Burfeind P., Adham I.M., Engel W.;
RT "Male mice lacking the Theg (testicular haploid expressed gene) protein
RT undergo normal spermatogenesis and are fertile.";
RL Biol. Reprod. 69:788-796(2003).
CC -!- FUNCTION: May be involved (but not essential) in spermatogenesis.
CC {ECO:0000269|PubMed:12748127}.
CC -!- SUBUNIT: Interacts with CCT5. {ECO:0000269|PubMed:10747865}.
CC -!- INTERACTION:
CC Q9JMB1; P80316: Cct5; NbExp=2; IntAct=EBI-1390549, EBI-772379;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11173852,
CC ECO:0000269|PubMed:12748127}. Note=Localized predominantly in the
CC nucleus of haploid round spermatid.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=Theg major, Theg 1a;
CC IsoId=Q9JMB1-1; Sequence=Displayed;
CC Name=2; Synonyms=Theg minor, Theg 1b;
CC IsoId=Q9JMB1-2; Sequence=VSP_028447;
CC -!- TISSUE SPECIFICITY: Testis specific (at protein level). Specifically
CC expressed in spermatids; Sertoli cells maintain the level of expression
CC in spermatids. If isolated spermatids are cultivated for 16 hours
CC alone, the expression of THEG is down-regulated. May require signals
CC from Sertoli cells to initiate changes in its gene expression through
CC spermatogenesis. {ECO:0000269|PubMed:10330110,
CC ECO:0000269|PubMed:10747865, ECO:0000269|PubMed:11173852,
CC ECO:0000269|PubMed:12748127}.
CC -!- DEVELOPMENTAL STAGE: Expression in testis detected after stage P20,
CC when haploid germ cells appeared in testis.
CC {ECO:0000269|PubMed:12748127}.
CC -!- DISRUPTION PHENOTYPE: According to PubMed:10747865, mice lacking Theg
CC (mutant kisimo) have virtually no spermatozoa in the lumina of
CC seminiferous and epididymal tubules. Spermatids in the vicinity of the
CC lumina of seminiferous tubules showed vacuolation and were occasionally
CC phagocytosed by Sertoli cells. Elongated spermatids have abnormal or
CC completely nonexistent flagella. No difference is seen between wild
CC type and null mutants in the number of spermatogonia or spermatocytes.
CC According to PubMed:12748127 null mutants appear phenotypically normal
CC and were fertile. However, a minor but significant reduction in testes
CC weight was observed. Morphological appearance of sperm was normal.
CC {ECO:0000269|PubMed:10747865, ECO:0000269|PubMed:12748127}.
CC -!- MISCELLANEOUS: 'Kisimo' is a Japanese word for goddess of easy
CC delivery.
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DR EMBL; AJ011834; CAB57454.1; -; mRNA.
DR EMBL; AB033128; BAA93717.1; -; mRNA.
DR EMBL; BC061243; AAH61243.1; -; mRNA.
DR CCDS; CCDS23977.1; -. [Q9JMB1-1]
DR CCDS; CCDS23978.1; -. [Q9JMB1-2]
DR RefSeq; NP_035713.1; NM_011583.3. [Q9JMB1-1]
DR RefSeq; NP_954696.1; NM_199226.1. [Q9JMB1-2]
DR AlphaFoldDB; Q9JMB1; -.
DR IntAct; Q9JMB1; 1.
DR STRING; 10090.ENSMUSP00000020566; -.
DR iPTMnet; Q9JMB1; -.
DR PhosphoSitePlus; Q9JMB1; -.
DR PaxDb; Q9JMB1; -.
DR PRIDE; Q9JMB1; -.
DR ProteomicsDB; 259379; -. [Q9JMB1-1]
DR ProteomicsDB; 259380; -. [Q9JMB1-2]
DR Antibodypedia; 22292; 46 antibodies from 12 providers.
DR DNASU; 21830; -.
DR Ensembl; ENSMUST00000020566; ENSMUSP00000020566; ENSMUSG00000020317. [Q9JMB1-1]
DR Ensembl; ENSMUST00000077433; ENSMUSP00000076647; ENSMUSG00000020317. [Q9JMB1-2]
DR GeneID; 21830; -.
DR KEGG; mmu:21830; -.
DR UCSC; uc007fyz.1; mouse. [Q9JMB1-1]
DR UCSC; uc007fza.1; mouse. [Q9JMB1-2]
DR CTD; 51298; -.
DR MGI; MGI:1338756; Theg.
DR VEuPathDB; HostDB:ENSMUSG00000020317; -.
DR eggNOG; ENOG502SBEN; Eukaryota.
DR GeneTree; ENSGT00940000154630; -.
DR HOGENOM; CLU_061711_0_0_1; -.
DR InParanoid; Q9JMB1; -.
DR OMA; YAWISPR; -.
DR OrthoDB; 1299841at2759; -.
DR PhylomeDB; Q9JMB1; -.
DR TreeFam; TF329290; -.
DR BioGRID-ORCS; 21830; 1 hit in 72 CRISPR screens.
DR PRO; PR:Q9JMB1; -.
DR Proteomes; UP000000589; Chromosome 10.
DR RNAct; Q9JMB1; protein.
DR Bgee; ENSMUSG00000020317; Expressed in seminiferous tubule of testis and 24 other tissues.
DR Genevisible; Q9JMB1; MM.
DR GO; GO:0005737; C:cytoplasm; TAS:MGI.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IMP:MGI.
DR InterPro; IPR006623; THEG.
DR InterPro; IPR042401; THEG-like.
DR PANTHER; PTHR15901; PTHR15901; 1.
DR Pfam; PF14912; THEG; 5.
DR SMART; SM00705; THEG; 8.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; Differentiation; Nucleus;
KW Phosphoprotein; Reference proteome; Repeat; Spermatogenesis.
FT CHAIN 1..375
FT /note="Testicular haploid expressed gene protein"
FT /id="PRO_0000306268"
FT REPEAT 110..129
FT /note="THEG 1"
FT REPEAT 176..195
FT /note="THEG 2"
FT REPEAT 214..233
FT /note="THEG 3"
FT REPEAT 250..269
FT /note="THEG 4"
FT REPEAT 282..301
FT /note="THEG 5"
FT REPEAT 318..337
FT /note="THEG 6"
FT REPEAT 352..371
FT /note="THEG 7"
FT REGION 1..78
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 287
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5XHX8"
FT VAR_SEQ 137..160
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10747865,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_028447"
FT CONFLICT 257
FT /note="T -> R (in Ref. 1; CAB57454)"
FT /evidence="ECO:0000305"
FT CONFLICT 263
FT /note="L -> LL (in Ref. 1; CAB57454)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 375 AA; 42796 MW; 0A03EEB94364EEA0 CRC64;
MGELGEHRAS LLSNPIPEVK TLGELKQGQN NGNLDLESEP FGSHWLQGSK ATTGRTSEEP
EEEIPPEEMA GEELPETSNL DGPLQQDLEV EVVEMSHLSI TERTPSVSTA KGRKKRSRRL
LELAKPKTNW QCLRDRTGRC CKGYAWISPR KTNLQFCLYW PSVYWTERFI EDTTLTITVP
VVSQRMEELS RPKRFYQEYY NNNRTTPIWS IPRSTLEYQA SNRLKQLATP KVRNNIWSIN
MSEVSQVSRA AQMAVPTPRT LRLAKPRPPA TLLEEWDPMP KPKPYVSDYN RLLQLATPKA
LSEKCVPDRS PQWEVLDVTK NAVASSRIIS LAQPKIRKDL NEGYNPYYIS PASLVAQASP
RIYELATPKY ITKKV