TOPZ1_MOUSE
ID TOPZ1_MOUSE Reviewed; 1653 AA.
AC E5FYH1;
DT 21-MAR-2012, integrated into UniProtKB/Swiss-Prot.
DT 08-FEB-2011, sequence version 1.
DT 03-AUG-2022, entry version 58.
DE RecName: Full=Protein TOPAZ1 {ECO:0000305};
DE AltName: Full=Testis- and ovary-specific PAZ domain-containing protein 1 {ECO:0000303|PubMed:22069478};
GN Name=Topaz1 {ECO:0000303|PubMed:22069478, ECO:0000312|MGI:MGI:3779933};
GN Synonyms=Gm9524 {ECO:0000312|MGI:MGI:3779933};
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], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=22069478; DOI=10.1371/journal.pone.0026950;
RA Baillet A., Le Bouffant R., Volff J.N., Luangpraseuth A., Poumerol E.,
RA Thepot D., Pailhoux E., Livera G., Cotinot C., Mandon-Pepin B.;
RT "TOPAZ1, a novel germ cell-specific expressed gene conserved during
RT evolution across vertebrates.";
RL PLoS ONE 6:E26950-E26950(2011).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=26358182; DOI=10.1016/j.ydbio.2015.09.002;
RA Luangpraseuth-Prosper A., Lesueur E., Jouneau L., Pailhoux E., Cotinot C.,
RA Mandon-Pepin B.;
RT "TOPAZ1, a germ cell specific factor, is essential for male meiotic
RT progression.";
RL Dev. Biol. 406:158-171(2015).
CC -!- FUNCTION: Important for normal spermatogenesis and male fertility.
CC Specifically required for progression to the post-meiotic stages of
CC spermatocyte development. Seems to be necessary for normal expression
CC levels of a number of testis-expressed gene transcripts, although its
CC role in this process is unclear. {ECO:0000269|PubMed:26358182}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:22069478}.
CC -!- TISSUE SPECIFICITY: Restricted to testis, where it localizes to germ
CC cells. {ECO:0000269|PubMed:22069478, ECO:0000269|PubMed:26358182}.
CC -!- DEVELOPMENTAL STAGE: In both developing female and male gonads, first
CC detected at 12.5 dpc, expression increases until 16.5 dpc and then
CC drops (PubMed:22069478). Divergence between male and female expression
CC starts around 5 days after birth (PubMed:22069478). In ovaries,
CC expression decreases and becomes hardly detectable in adult ovaries,
CC while in testis, expression increases 5 days after birth and becomes
CC strong in the adult (PubMed:22069478). In both males and females,
CC expression is restricted to germ cells (PubMed:22069478). In developing
CC male germ cells, highly expressed at the spermatocyte stage; has little
CC or no expression in round spermatids, elongated spermatids or
CC spermatozoa (PubMed:26358182). {ECO:0000269|PubMed:22069478}.
CC -!- DISRUPTION PHENOTYPE: Males are infertile, while female fertility is
CC not affected. Testis size is significantly reduced with the phenotype
CC apparent from postnatal day 28 (P28) onwards. Testicular histology
CC appears to be normal before P28, but then cell aggregates begin to
CC accumulate in the center of seminiferous tubules. Sperm development
CC arrests at the post-meiotic round spermatid stage, associated with
CC increased apoptosis. Adult testes completely lack round spermatids and
CC spermatozoa. Meiosis appears to be normal up to the pachytene stage,
CC with no apparent effect on synaptonemal complex formation or meiotic
CC sex chromosome inactivation. However, chromosome alignment on the
CC metaphase plate may be abnormal. In stage P20 testes, 99 gene
CC transcripts show abnormal expression levels, including around 10
CC lincRNAs. {ECO:0000269|PubMed:26358182}.
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DR EMBL; HM631980; ADK36691.1; -; mRNA.
DR EMBL; AC124778; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC125374; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS57718.1; -.
DR RefSeq; NP_001186665.1; NM_001199736.1.
DR AlphaFoldDB; E5FYH1; -.
DR BioGRID; 582959; 7.
DR STRING; 10090.ENSMUSP00000136304; -.
DR iPTMnet; E5FYH1; -.
DR PhosphoSitePlus; E5FYH1; -.
DR PaxDb; E5FYH1; -.
DR PRIDE; E5FYH1; -.
DR ProteomicsDB; 258815; -.
DR Antibodypedia; 64655; 25 antibodies from 13 providers.
DR Ensembl; ENSMUST00000178679; ENSMUSP00000136304; ENSMUSG00000094985.
DR GeneID; 671232; -.
DR KEGG; mmu:671232; -.
DR UCSC; uc012hcy.1; mouse.
DR CTD; 375337; -.
DR MGI; MGI:3779933; Topaz1.
DR VEuPathDB; HostDB:ENSMUSG00000094985; -.
DR eggNOG; ENOG502QPIV; Eukaryota.
DR GeneTree; ENSGT00390000012495; -.
DR HOGENOM; CLU_003190_0_0_1; -.
DR InParanoid; E5FYH1; -.
DR OMA; IWVMRES; -.
DR OrthoDB; 347766at2759; -.
DR TreeFam; TF338635; -.
DR BioGRID-ORCS; 671232; 2 hits in 74 CRISPR screens.
DR ChiTaRS; Topaz1; mouse.
DR PRO; PR:E5FYH1; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; E5FYH1; protein.
DR Bgee; ENSMUSG00000094985; Expressed in spermatocyte and 12 other tissues.
DR GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
DR GO; GO:0006915; P:apoptotic process; IMP:MGI.
DR GO; GO:0035234; P:ectopic germ cell programmed cell death; IMP:MGI.
DR GO; GO:0098781; P:ncRNA transcription; IMP:MGI.
DR GO; GO:0007286; P:spermatid development; IBA:GO_Central.
DR GO; GO:0048137; P:spermatocyte division; IMP:MGI.
DR InterPro; IPR038952; TOPAZ1.
DR InterPro; IPR029435; TOPAZ1_dom.
DR PANTHER; PTHR35671; PTHR35671; 1.
DR Pfam; PF14669; Asp_Glu_race_2; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Differentiation; Reference proteome; Spermatogenesis.
FT CHAIN 1..1653
FT /note="Protein TOPAZ1"
FT /id="PRO_0000416061"
FT REGION 1..94
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 284..303
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 415..442
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 43..81
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 423..442
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1653 AA; 185487 MW; E33DB431D3631B6C CRC64;
MRPPATPPDP TKEPGCKGTT RGLRKRGLPL TPEPGEGGGC SLEARGCEEE SRQKQRMVTQ
ASGREETEGD KLAKENGKIT EAPSDDPQPG TDLVRKTSIT SSESLQTVEC SEFQNMAFLQ
SLDKEELGEG IKRRMRIKKC KSLENPPLEI TKNEATQNIK VEFQDELFKN TPKHSCNSLS
PGVEKNCSFE LHDYSFLHSE GCNNENNFED KPHDVCLHTE ENSLKLKKEN LRNLAEKDDT
RTTTKLLKTE KSVIASKLLL EESHLYQNKN NGLTSCLQSE KNKYSVEENN TGRKHRKKMK
SGKEEKNINL TLSNVCNNSV LVLQENQMGM EGKEAETLEP KKSFLKALRK INHNTLPPVD
HLCLPKTVGK TSSRHHINAM LQKTLESSLK EDIKNTSESL GCKRIEPEKY NKSMISSTVK
SPSDGHHMEK RSPRGDLRSE TEESKVSCCR TIPMTGKRVW PFYSCARISA QCWKKTSLSD
LNYSLLGPLE NVRQHDSIIH QMNQTHLPDS KLLQPSLTER TTESSRKEMY DSDLSCLSSV
SSVESTVMDI KEAMSHDKKT KLEEPSRNGA EVVSNATEDT QLSNITQSLT GNKKRKGNLS
KLNLTVASQE SQETNNCANK TVHRKVCITK QTLVAPDLVK ILNTGRLTNF KIPLLKNKTG
KRGAVSARSS EREAYSPLEL LDSLSGVEAK QNRNKENICT TSGPQSLNLH SCIAPGQASS
HSFYNKNSCT SSSFTKKGYD NKACNHISEP GNIISNKESI SMKIENNTFS CDLGYIDQSS
FCSKKQEAFV PISSEISGRK MTKSISELKL GFPDILKAYE DDVLLIDVIQ DDPELFGISS
EGDLSFASEV SKISQEPRVS EDQPTADFKH MHLPGKKEPG DLSKEVALLD PGLLKLESCP
SLSAAKEPQH DPEGAAISLE ATEETVVSGS LEGLSEQARA SDSDAKCISS DKATVMEEQE
STHEIFKSKD SRNVESATEC QLATLGPNPL CSSALPVNLS SHQDVVSTPW INDVRFPGRH
SVLQLQNPET CEIFKREKNM GVFQKPLGLL IPHRYCKLHF NTLRGCERAQ CKFVHVPEQG
DEKICMDVFR KYISVNEQRL LHRAAYIFLE YYRKFPPGIH FSLQVLNDLL ISLLKHCLLK
EVFQVVQLSI MAKMLPALKI LLKIFEYVAA MKLRNAVPAL IEIFCKFIEA GMVPDPEHLN
YIVKLLHQAQ ASQQEISAVL QAKSRLRVRQ LKKNWKCDLD SALSEVETCK EKSDWTKLGN
LYISIKMSCE EFADLQRFCA CVAETLTEDY KEERPGVPFC EFAETVSKDP QYSEVDKTLL
GRIGISAVYF YHRLLLWAKG RKVLDILYEL KIHFTSLKGL TGPEKEAPRC QIVNVAAEIF
IKSGSLDGAI WVLRESEWII NTPLWPCDRM DVLNRHNLLC TIAHEILGKN LYKQTFEVLR
NLPSFQNSQE MMGVSQSSLL FNELLDACIE SNSLGISSSV AEFMVAKSIP IDFSFLRRLI
TSLGRSCLWL KARAHYKSAL SLGCYPPLEG NLHRKLLLVP SYLSEIEMLL AMEIFLVSNA
SGIQSAGMGA PTQVLQIVLK RCEESKSRSK DEYQAAVERL VMAARISDPK LFIKHMTVNI
NKEQVYSLEH CSALKWLKEN MKWAGKVWLF TNH
