UniProtKB - Q8N9V7 (TOPZ1_HUMAN)
Protein
Protein TOPAZ1
Gene
TOPAZ1
Organism
Homo sapiens (Human)
Status
Functioni
Important for normal spermatogenesis and male fertility. Specifically required for progression to the post-meiotic stages of spermatocyte development. Seems to be necessary for normal expression levels of a number of testis-expressed gene transcripts, although its role in this process is unclear.By similarity
GO - Biological processi
- apoptotic process Source: Ensembl
- ncRNA transcription Source: Ensembl
- positive regulation of meiotic cell cycle phase transition Source: Ensembl
- spermatid development Source: GO_Central
- spermatocyte division Source: GO_Central
Keywordsi
Biological process | Differentiation, Spermatogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q8N9V7 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein TOPAZ1By similarityAlternative name(s): Testis- and ovary-specific PAZ domain-containing protein 1By similarity |
Gene namesi | Name:TOPAZ1 Synonyms:C3orf77 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000173769.4 |
HGNCi | HGNC:24746, TOPAZ1 |
MIMi | 614412, gene |
neXtProti | NX_Q8N9V7 |
Subcellular locationi
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 375337 |
OpenTargetsi | ENSG00000173769 |
PharmGKBi | PA165696874 |
Miscellaneous databases
Pharosi | Q8N9V7, Tdark |
Polymorphism and mutation databases
BioMutai | TOPAZ1 |
DMDMi | 317373461 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000320600 | 1 – 1692 | Protein TOPAZ1Add BLAST | 1692 |
Proteomic databases
EPDi | Q8N9V7 |
PaxDbi | Q8N9V7 |
PeptideAtlasi | Q8N9V7 |
PRIDEi | Q8N9V7 |
ProteomicsDBi | 72592 |
PTM databases
iPTMneti | Q8N9V7 |
PhosphoSitePlusi | Q8N9V7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000173769, Expressed in testis and 4 other tissues |
Organism-specific databases
HPAi | ENSG00000173769, Tissue enriched (testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 131973, 4 interactors |
IntActi | Q8N9V7, 1 interactor |
STRINGi | 9606.ENSP00000310303 |
Miscellaneous databases
RNActi | Q8N9V7, protein |
Family & Domainsi
Phylogenomic databases
eggNOGi | ENOG502QPIV, Eukaryota |
GeneTreei | ENSGT00390000012495 |
HOGENOMi | CLU_003190_0_0_1 |
InParanoidi | Q8N9V7 |
OMAi | NIFMEYY |
OrthoDBi | 347766at2759 |
PhylomeDBi | Q8N9V7 |
TreeFami | TF338635 |
Family and domain databases
InterProi | View protein in InterPro IPR038952, TOPAZ1 IPR029435, TOPAZ1_dom |
PANTHERi | PTHR35671, PTHR35671, 1 hit |
Pfami | View protein in Pfam PF14669, Asp_Glu_race_2, 1 hit |
i Sequence
Sequence statusi: Complete.
Q8N9V7-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MRRPPPLGPT TASGPEGNVR NLQKRQAPGP GAAGGCGPEA GGCRENKQKR
60 70 80 90 100
RMVARATPGR GEVESDKSVA ASGAGKAARR QVEGRRGPVS PSDSSDPRGL
110 120 130 140 150
EAAKEAELPL QTERHTKEKR KVTEASSDDP QPGLDLVRKE SLTSSESFQT
160 170 180 190 200
VECLQSLGKE SIIEGIKRRI RNKKLKSLEN PPLKITENEA TQNIKVEFQD
210 220 230 240 250
ELYKNTPKYS CNILSPEVEN NSVLKLRDCN CFPHSKGCND ENNLPYKPDG
260 270 280 290 300
GCMHVAENFS KKENLRSLAE KSDTNSIPQL LQTEENVMGV NKLLPEESDL
310 320 330 340 350
YQSKTNGLLS CLQHEKNKYS IEESSVGRKP RKRMKLSEKA DETVTEMNFS
360 370 380 390 400
NEYNKSELML QENQMIADGK EAETKSPLNV LRKVSHNTVS LMDHLLSVPE
410 420 430 440 450
TVEKETSSEH HVNAVFQKTI EPLLKEETEN ASEPLGYESM ASKEDFKSMK
460 470 480 490 500
SFIGKSPNEY HIERRSSRED LRSASEELKL SCQRTIPMTG KRTWPYYSCA
510 520 530 540 550
RISAWCWKKA SLPESSYFLR GSQESCRQVD VPKHQTNQTH LTDSKLLLQS
560 570 580 590 600
SLTETNTESS SKEKLDSNSN CLSSVSAVEP TLMVIKEPII KDDKKIKSEE
610 620 630 640 650
LSRRGSEVIS NTTEDTQLTS ETQSLTGNKK KARGNLTKLN LTATSKDGQE
660 670 680 690 700
ANNSAGKTIH RKACIAQQTF IVPDLVKILN TGRLTNFKIP LLKNKSEKRK
710 720 730 740 750
EVNAKSSERE AYSPLELLDN LSGADVRQNR SKENVSMMML GPQTLSIRNS
760 770 780 790 800
VTPVQASSDS FYNKKSYSIS PSFTKQGNNS KPSNHVSEPG NIVSNKEVAS
810 820 830 840 850
LTVENNAFSC DPGYVEKSPS FCCNEQETFR PVSSEVRGRK ITKNFSEVGF
860 870 880 890 900
PDILKAYEDD VLLIDVIQDD PDLFGVSNEG ELSFTSEVPK ISQEPNVAGE
910 920 930 940 950
HQSTDSKYME TPVKKEPSDD LRELPVLDCG WIKPDICASN SAESEIKRDP
960 970 980 990 1000
KDVNTSLGEV ANETSENETL GDFSEQIKGS DLDEKHRFTD KVITKEEKEN
1010 1020 1030 1040 1050
IYEVCKSKDS RNADFMVGEC QFAVPVPKPL CLLVPPLNLS GRQEDTILNT
1060 1070 1080 1090 1100
WMNDFRFLGK HSVLKLQNPE TCEIFKREKN VGVFQKSLGL MIPYKYCKFH
1110 1120 1130 1140 1150
FNTLRGCERP LCKFAHVPEQ GDEKVCMDVF KKYININELC LLQRAVNIFM
1160 1170 1180 1190 1200
EYYRKFPPGV YFDLQVLNDL LNSLLKHCLL KEVFQIVNLS IMVKMLPSLK
1210 1220 1230 1240 1250
ILLNIFEYVA TMKLRNAVPA LIDIFCKLVE AGMVLDPEHF NYIVKLLYQV
1260 1270 1280 1290 1300
QASKQEITAV LEMKSRLQMR RFKKNWKCDL DSALNKLEHC KEKGDWTKLG
1310 1320 1330 1340 1350
KLYINVKMGC EKFADFQTFC ACIAETLTKN YEDERPDIPF CEFAETVSKD
1360 1370 1380 1390 1400
PQNSKVDKGV LGRIGISAMY FYHKLLQWSK GRKVLEKLYE LKIHFTSLKG
1410 1420 1430 1440 1450
LIGPEKLASR CQIVNVAAEI FLKSGSLDGA IWVMRESEWI INTPLWPCDR
1460 1470 1480 1490 1500
LDVLNRHNLL CTIAHEILAK SLYRQTFEVL QNLPGFQNSQ ETVEVSQYSL
1510 1520 1530 1540 1550
LFNKLLGSCI ESSSLGMSSS VAEFMISKSI PIDFSFLRRL ITSLGRSRLW
1560 1570 1580 1590 1600
LKARAHYKSA LSLGCYPPLE GNLYRKLLLI PSYLSEIEML LAIEIFMVSN
1610 1620 1630 1640 1650
ASSIQSPGTS TQILQIVLKR CEDNQSRSND DYQAAVERLI MAARISDPKL
1660 1670 1680 1690
FVKHMTVNVN KEQVYSLEHC SALKWLKENM KWAGKVWLFS NH
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 22 | L → H in BAC04180 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 802 | T → P in BX648094 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1537 | L → P in BX648094 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1666 | S → I in AI208289 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_039224 | 43 | C → R1 PublicationCorresponds to variant dbSNP:rs9833423Ensembl. | 1 | |
Natural variantiVAR_039225 | 88 | P → Q1 PublicationCorresponds to variant dbSNP:rs7645375Ensembl. | 1 | |
Natural variantiVAR_039226 | 196 | V → I. Corresponds to variant dbSNP:rs9284879Ensembl. | 1 | |
Natural variantiVAR_039227 | 483 | Q → R. Corresponds to variant dbSNP:rs17076541Ensembl. | 1 | |
Natural variantiVAR_039228 | 673 | P → A. Corresponds to variant dbSNP:rs17646517Ensembl. | 1 | |
Natural variantiVAR_039229 | 796 | K → E. Corresponds to variant dbSNP:rs17076545Ensembl. | 1 | |
Natural variantiVAR_039230 | 1352 | Q → R. Corresponds to variant dbSNP:rs11921568EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC104187 Genomic DNA No translation available. AK093476 mRNA Translation: BAC04180.1 BX648094 mRNA No translation available. AI208289 mRNA No translation available. |
CCDSi | CCDS46809.1 |
RefSeqi | NP_001138502.1, NM_001145030.1 |
Genome annotation databases
Ensembli | ENST00000309765; ENSP00000310303; ENSG00000173769 |
GeneIDi | 375337 |
KEGGi | hsa:375337 |
UCSCi | uc003cna.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC104187 Genomic DNA No translation available. AK093476 mRNA Translation: BAC04180.1 BX648094 mRNA No translation available. AI208289 mRNA No translation available. |
CCDSi | CCDS46809.1 |
RefSeqi | NP_001138502.1, NM_001145030.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 131973, 4 interactors |
IntActi | Q8N9V7, 1 interactor |
STRINGi | 9606.ENSP00000310303 |
PTM databases
iPTMneti | Q8N9V7 |
PhosphoSitePlusi | Q8N9V7 |
Polymorphism and mutation databases
BioMutai | TOPAZ1 |
DMDMi | 317373461 |
Proteomic databases
EPDi | Q8N9V7 |
PaxDbi | Q8N9V7 |
PeptideAtlasi | Q8N9V7 |
PRIDEi | Q8N9V7 |
ProteomicsDBi | 72592 |
Protocols and materials databases
Antibodypediai | 64655, 24 antibodies |
Genome annotation databases
Ensembli | ENST00000309765; ENSP00000310303; ENSG00000173769 |
GeneIDi | 375337 |
KEGGi | hsa:375337 |
UCSCi | uc003cna.4, human |
Organism-specific databases
CTDi | 375337 |
DisGeNETi | 375337 |
EuPathDBi | HostDB:ENSG00000173769.4 |
GeneCardsi | TOPAZ1 |
HGNCi | HGNC:24746, TOPAZ1 |
HPAi | ENSG00000173769, Tissue enriched (testis) |
MIMi | 614412, gene |
neXtProti | NX_Q8N9V7 |
OpenTargetsi | ENSG00000173769 |
PharmGKBi | PA165696874 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPIV, Eukaryota |
GeneTreei | ENSGT00390000012495 |
HOGENOMi | CLU_003190_0_0_1 |
InParanoidi | Q8N9V7 |
OMAi | NIFMEYY |
OrthoDBi | 347766at2759 |
PhylomeDBi | Q8N9V7 |
TreeFami | TF338635 |
Enzyme and pathway databases
PathwayCommonsi | Q8N9V7 |
Miscellaneous databases
BioGRID-ORCSi | 375337, 7 hits in 842 CRISPR screens |
GenomeRNAii | 375337 |
Pharosi | Q8N9V7, Tdark |
PROi | PR:Q8N9V7 |
RNActi | Q8N9V7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000173769, Expressed in testis and 4 other tissues |
Family and domain databases
InterProi | View protein in InterPro IPR038952, TOPAZ1 IPR029435, TOPAZ1_dom |
PANTHERi | PTHR35671, PTHR35671, 1 hit |
Pfami | View protein in Pfam PF14669, Asp_Glu_race_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TOPZ1_HUMAN | |
Accessioni | Q8N9V7Primary (citable) accession number: Q8N9V7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 26, 2008 |
Last sequence update: | January 11, 2011 | |
Last modified: | December 2, 2020 | |
This is version 99 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations