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Protein

Protein TOPAZ1

Gene

TOPAZ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

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 - Molecular functioni

GO - Biological processi

Keywordsi

Biological processDifferentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein TOPAZ1By similarity
Alternative name(s):
Testis- and ovary-specific PAZ domain-containing protein 1By similarity
Gene namesi
Name:TOPAZ1
Synonyms:C3orf77
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000173769.4
HGNCiHGNC:24746 TOPAZ1
MIMi614412 gene
neXtProtiNX_Q8N9V7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000173769
PharmGKBiPA165696874

Polymorphism and mutation databases

BioMutaiTOPAZ1
DMDMi317373461

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003206001 – 1692Protein TOPAZ1Add BLAST1692

Proteomic databases

EPDiQ8N9V7
PaxDbiQ8N9V7
PeptideAtlasiQ8N9V7
PRIDEiQ8N9V7

PTM databases

iPTMnetiQ8N9V7
PhosphoSitePlusiQ8N9V7

Expressioni

Gene expression databases

BgeeiENSG00000173769

Organism-specific databases

HPAiHPA047431
HPA051034

Interactioni

Protein-protein interaction databases

BioGridi131973, 2 interactors
IntActiQ8N9V7, 1 interactor
STRINGi9606.ENSP00000310303

Structurei

3D structure databases

ProteinModelPortaliQ8N9V7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IGNR Eukaryota
ENOG4111I5N LUCA
GeneTreeiENSGT00390000012495
HOGENOMiHOG000168841
InParanoidiQ8N9V7
OMAiFCEFAET
OrthoDBiEOG091G00JJ
PhylomeDBiQ8N9V7
TreeFamiTF338635

Family and domain databases

InterProiView protein in InterPro
IPR029435 TOPAZ1
PfamiView protein in Pfam
PF14669 Asp_Glu_race_2, 1 hit

Sequencei

Sequence statusi: Complete.

Q8N9V7-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:1,692
Mass (Da):190,927
Last modified:January 11, 2011 - v3
Checksum:i3857B608D4033D44
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti22L → H in BAC04180 (PubMed:14702039).Curated1
Sequence conflicti802T → P in BX648094 (PubMed:17974005).Curated1
Sequence conflicti1537L → P in BX648094 (PubMed:17974005).Curated1
Sequence conflicti1666S → I in AI208289 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03922443C → R1 PublicationCorresponds to variant dbSNP:rs9833423Ensembl.1
Natural variantiVAR_03922588P → Q1 PublicationCorresponds to variant dbSNP:rs7645375Ensembl.1
Natural variantiVAR_039226196V → I. Corresponds to variant dbSNP:rs9284879Ensembl.1
Natural variantiVAR_039227483Q → R. Corresponds to variant dbSNP:rs17076541Ensembl.1
Natural variantiVAR_039228673P → A. Corresponds to variant dbSNP:rs17646517Ensembl.1
Natural variantiVAR_039229796K → E. Corresponds to variant dbSNP:rs17076545Ensembl.1
Natural variantiVAR_0392301352Q → R. Corresponds to variant dbSNP:rs11921568Ensembl.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.
CCDSiCCDS46809.1
RefSeqiNP_001138502.1, NM_001145030.1
UniGeneiHs.132125

Genome annotation databases

EnsembliENST00000309765; ENSP00000310303; ENSG00000173769
GeneIDi375337
KEGGihsa:375337
UCSCiuc003cna.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTOPZ1_HUMAN
AccessioniPrimary (citable) accession number: Q8N9V7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: January 11, 2011
Last modified: April 25, 2018
This is version 85 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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