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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
 
 
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