TOPZ1_HUMAN
ID TOPZ1_HUMAN Reviewed; 1692 AA.
AC Q8N9V7;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=Protein TOPAZ1 {ECO:0000250|UniProtKB:E5FYH1};
DE AltName: Full=Testis- and ovary-specific PAZ domain-containing protein 1 {ECO:0000250|UniProtKB:E5FYH1};
GN Name=TOPAZ1; Synonyms=C3orf77;
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].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-696, AND VARIANTS ARG-43 AND
RP GLN-88.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 445-1692.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1579-1692.
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: 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:0000250|UniProtKB:E5FYH1}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:E5FYH1}.
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DR EMBL; AC104187; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK093476; BAC04180.1; -; mRNA.
DR EMBL; BX648094; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AI208289; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS46809.1; -.
DR RefSeq; NP_001138502.1; NM_001145030.1.
DR AlphaFoldDB; Q8N9V7; -.
DR BioGRID; 131973; 4.
DR IntAct; Q8N9V7; 1.
DR STRING; 9606.ENSP00000310303; -.
DR iPTMnet; Q8N9V7; -.
DR PhosphoSitePlus; Q8N9V7; -.
DR BioMuta; TOPAZ1; -.
DR DMDM; 317373461; -.
DR EPD; Q8N9V7; -.
DR MassIVE; Q8N9V7; -.
DR PaxDb; Q8N9V7; -.
DR PeptideAtlas; Q8N9V7; -.
DR PRIDE; Q8N9V7; -.
DR ProteomicsDB; 72592; -.
DR Antibodypedia; 64655; 25 antibodies from 13 providers.
DR DNASU; 375337; -.
DR Ensembl; ENST00000309765.4; ENSP00000310303.4; ENSG00000173769.4.
DR GeneID; 375337; -.
DR KEGG; hsa:375337; -.
DR MANE-Select; ENST00000309765.4; ENSP00000310303.4; NM_001145030.2; NP_001138502.1.
DR UCSC; uc003cna.4; human.
DR CTD; 375337; -.
DR DisGeNET; 375337; -.
DR GeneCards; TOPAZ1; -.
DR HGNC; HGNC:24746; TOPAZ1.
DR HPA; ENSG00000173769; Tissue enriched (testis).
DR MIM; 614412; gene.
DR neXtProt; NX_Q8N9V7; -.
DR OpenTargets; ENSG00000173769; -.
DR PharmGKB; PA165696874; -.
DR VEuPathDB; HostDB:ENSG00000173769; -.
DR eggNOG; ENOG502QPIV; Eukaryota.
DR GeneTree; ENSGT00390000012495; -.
DR HOGENOM; CLU_003190_0_0_1; -.
DR InParanoid; Q8N9V7; -.
DR OMA; IWVMRES; -.
DR OrthoDB; 347766at2759; -.
DR PhylomeDB; Q8N9V7; -.
DR TreeFam; TF338635; -.
DR PathwayCommons; Q8N9V7; -.
DR SignaLink; Q8N9V7; -.
DR BioGRID-ORCS; 375337; 12 hits in 1066 CRISPR screens.
DR GenomeRNAi; 375337; -.
DR Pharos; Q8N9V7; Tdark.
DR PRO; PR:Q8N9V7; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8N9V7; protein.
DR Bgee; ENSG00000173769; Expressed in testis and 2 other tissues.
DR GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
DR GO; GO:0006915; P:apoptotic process; IEA:Ensembl.
DR GO; GO:0035234; P:ectopic germ cell programmed cell death; IEA:Ensembl.
DR GO; GO:0098781; P:ncRNA transcription; IEA:Ensembl.
DR GO; GO:0007286; P:spermatid development; IBA:GO_Central.
DR GO; GO:0048137; P:spermatocyte division; IBA:GO_Central.
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..1692
FT /note="Protein TOPAZ1"
FT /id="PRO_0000320600"
FT REGION 1..135
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 600..629
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 894..919
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 43..62
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 98..126
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 605..629
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 43
FT /note="C -> R (in dbSNP:rs9833423)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_039224"
FT VARIANT 88
FT /note="P -> Q (in dbSNP:rs7645375)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_039225"
FT VARIANT 196
FT /note="V -> I (in dbSNP:rs9284879)"
FT /id="VAR_039226"
FT VARIANT 483
FT /note="Q -> R (in dbSNP:rs17076541)"
FT /id="VAR_039227"
FT VARIANT 673
FT /note="P -> A (in dbSNP:rs17646517)"
FT /id="VAR_039228"
FT VARIANT 796
FT /note="K -> E (in dbSNP:rs17076545)"
FT /id="VAR_039229"
FT VARIANT 1352
FT /note="Q -> R (in dbSNP:rs11921568)"
FT /id="VAR_039230"
FT CONFLICT 22
FT /note="L -> H (in Ref. 2; BAC04180)"
FT /evidence="ECO:0000305"
FT CONFLICT 802
FT /note="T -> P (in Ref. 3; BX648094)"
FT /evidence="ECO:0000305"
FT CONFLICT 1537
FT /note="L -> P (in Ref. 3; BX648094)"
FT /evidence="ECO:0000305"
FT CONFLICT 1666
FT /note="S -> I (in Ref. 4; AI208289)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1692 AA; 190927 MW; 3857B608D4033D44 CRC64;
MRRPPPLGPT TASGPEGNVR NLQKRQAPGP GAAGGCGPEA GGCRENKQKR RMVARATPGR
GEVESDKSVA ASGAGKAARR QVEGRRGPVS PSDSSDPRGL EAAKEAELPL QTERHTKEKR
KVTEASSDDP QPGLDLVRKE SLTSSESFQT VECLQSLGKE SIIEGIKRRI RNKKLKSLEN
PPLKITENEA TQNIKVEFQD ELYKNTPKYS CNILSPEVEN NSVLKLRDCN CFPHSKGCND
ENNLPYKPDG GCMHVAENFS KKENLRSLAE KSDTNSIPQL LQTEENVMGV NKLLPEESDL
YQSKTNGLLS CLQHEKNKYS IEESSVGRKP RKRMKLSEKA DETVTEMNFS NEYNKSELML
QENQMIADGK EAETKSPLNV LRKVSHNTVS LMDHLLSVPE TVEKETSSEH HVNAVFQKTI
EPLLKEETEN ASEPLGYESM ASKEDFKSMK SFIGKSPNEY HIERRSSRED LRSASEELKL
SCQRTIPMTG KRTWPYYSCA RISAWCWKKA SLPESSYFLR GSQESCRQVD VPKHQTNQTH
LTDSKLLLQS SLTETNTESS SKEKLDSNSN CLSSVSAVEP TLMVIKEPII KDDKKIKSEE
LSRRGSEVIS NTTEDTQLTS ETQSLTGNKK KARGNLTKLN LTATSKDGQE ANNSAGKTIH
RKACIAQQTF IVPDLVKILN TGRLTNFKIP LLKNKSEKRK EVNAKSSERE AYSPLELLDN
LSGADVRQNR SKENVSMMML GPQTLSIRNS VTPVQASSDS FYNKKSYSIS PSFTKQGNNS
KPSNHVSEPG NIVSNKEVAS LTVENNAFSC DPGYVEKSPS FCCNEQETFR PVSSEVRGRK
ITKNFSEVGF PDILKAYEDD VLLIDVIQDD PDLFGVSNEG ELSFTSEVPK ISQEPNVAGE
HQSTDSKYME TPVKKEPSDD LRELPVLDCG WIKPDICASN SAESEIKRDP KDVNTSLGEV
ANETSENETL GDFSEQIKGS DLDEKHRFTD KVITKEEKEN IYEVCKSKDS RNADFMVGEC
QFAVPVPKPL CLLVPPLNLS GRQEDTILNT WMNDFRFLGK HSVLKLQNPE TCEIFKREKN
VGVFQKSLGL MIPYKYCKFH FNTLRGCERP LCKFAHVPEQ GDEKVCMDVF KKYININELC
LLQRAVNIFM EYYRKFPPGV YFDLQVLNDL LNSLLKHCLL KEVFQIVNLS IMVKMLPSLK
ILLNIFEYVA TMKLRNAVPA LIDIFCKLVE AGMVLDPEHF NYIVKLLYQV QASKQEITAV
LEMKSRLQMR RFKKNWKCDL DSALNKLEHC KEKGDWTKLG KLYINVKMGC EKFADFQTFC
ACIAETLTKN YEDERPDIPF CEFAETVSKD PQNSKVDKGV LGRIGISAMY FYHKLLQWSK
GRKVLEKLYE LKIHFTSLKG LIGPEKLASR CQIVNVAAEI FLKSGSLDGA IWVMRESEWI
INTPLWPCDR LDVLNRHNLL CTIAHEILAK SLYRQTFEVL QNLPGFQNSQ ETVEVSQYSL
LFNKLLGSCI ESSSLGMSSS VAEFMISKSI PIDFSFLRRL ITSLGRSRLW LKARAHYKSA
LSLGCYPPLE GNLYRKLLLI PSYLSEIEML LAIEIFMVSN ASSIQSPGTS TQILQIVLKR
CEDNQSRSND DYQAAVERLI MAARISDPKL FVKHMTVNVN KEQVYSLEHC SALKWLKENM
KWAGKVWLFS NH
