UniProtKB - Q8N693 (ESX1_HUMAN)
Protein
Homeobox protein ESX1
Gene
ESX1
Organism
Homo sapiens (Human)
Status
Functioni
May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5'-TAATGTTATTA-3' which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover.2 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 139 – 198 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific DNA binding Source: UniProtKB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- negative regulation of transcription, DNA-templated Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: NTNU_SB
- regulation of cell cycle Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q8N693 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein ESX1Alternative name(s): Extraembryonic, spermatogenesis, homeobox 1 Cleaved into the following 2 chains: |
Gene namesi | Name:ESX1 Synonyms:ESX1L, ESX1R |
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
HGNCi | HGNC:14865, ESX1 |
MIMi | 300154, gene |
neXtProti | NX_Q8N693 |
VEuPathDBi | HostDB:ENSG00000123576.5 |
Subcellular locationi
Nucleus
- nuclear chromatin Source: NTNU_SB
- nuclear speck Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 80712 |
OpenTargetsi | ENSG00000123576 |
PharmGKBi | PA27892 |
Miscellaneous databases
Pharosi | Q8N693, Tbio |
Genetic variation databases
BioMutai | ESX1 |
DMDMi | 116241356 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048876 | 1 – 406 | Homeobox protein ESX1Add BLAST | 406 | |
ChainiPRO_0000386625 | 1 – ? | Homeobox protein ESX1-N | ||
ChainiPRO_0000386626 | ? – 406 | Homeobox protein ESX1-C |
Post-translational modificationi
Undergoes proteolytic cleavage; produces a 45 kDa N-terminal homeodomain-containing fragment (ESXR1-N) and a 20 kDa C-terminal fragment (ESXR1-C).1 Publication
Proteomic databases
EPDi | Q8N693 |
MassIVEi | Q8N693 |
PaxDbi | Q8N693 |
PeptideAtlasi | Q8N693 |
PRIDEi | Q8N693 |
ProteomicsDBi | 72146 |
PTM databases
iPTMneti | Q8N693 |
PhosphoSitePlusi | Q8N693 |
Expressioni
Tissue specificityi
Expressed in placenta and testis. Expressed in testicular germ cell tumors.2 Publications
Gene expression databases
Bgeei | ENSG00000123576, Expressed in testis and 21 other tissues |
Genevisiblei | Q8N693, HS |
Organism-specific databases
HPAi | ENSG00000123576, Tissue enriched (testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 123270, 3 interactors |
IntActi | Q8N693, 3 interactors |
MINTi | Q8N693 |
STRINGi | 9606.ENSP00000361669 |
Miscellaneous databases
RNActi | Q8N693, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 244 – 252 | 1 | 9 | |
Repeati | 253 – 261 | 2 | 9 | |
Repeati | 262 – 270 | 3 | 9 | |
Repeati | 271 – 279 | 4 | 9 | |
Repeati | 280 – 288 | 5 | 9 | |
Repeati | 289 – 297 | 6 | 9 | |
Repeati | 298 – 306 | 7 | 9 | |
Repeati | 307 – 315 | 8 | 9 | |
Repeati | 316 – 324 | 9 | 9 | |
Repeati | 325 – 333 | 10 | 9 | |
Repeati | 334 – 342 | 11 | 9 | |
Repeati | 343 – 351 | 12 | 9 | |
Repeati | 352 – 360 | 13 | 9 | |
Repeati | 361 – 369 | 14 | 9 | |
Repeati | 370 – 378 | 15 | 9 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 244 – 378 | 15 X 9 AA tandem repeats of P-P-x-x-P-x-P-P-xAdd BLAST | 135 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 138 – 143 | Nuclear localization signalSequence analysis | 6 |
Keywords - Domaini
Homeobox, RepeatPhylogenomic databases
eggNOGi | KOG0490, Eukaryota |
GeneTreei | ENSGT00940000163297 |
HOGENOMi | CLU_044595_0_0_1 |
InParanoidi | Q8N693 |
OMAi | APVRITW |
OrthoDBi | 1270742at2759 |
PhylomeDBi | Q8N693 |
TreeFami | TF315976 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR013847, POU |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00028, POUDOMAIN |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q8N693-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MESLRGYTHS DIGYRSLAVG EDIEEVNDEK LTVTSLMARG GEDEENTRSK
60 70 80 90 100
PEYGTEAENN VGTEGSVPSD DQDREGGGGH EPEQQQEEPP LTKPEQQQEE
110 120 130 140 150
PPLLELKQEQ EEPPQTTVEG PQPAEGPQTA EGPQPPERKR RRRTAFTQFQ
160 170 180 190 200
LQELENFFDE SQYPDVVARE RLAARLNLTE DRVQVWFQNR RAKWKRNQRV
210 220 230 240 250
LMLRNTATAD LAHPLDMFLG GAYYAAPALD PALCVHLVPQ LPRPPVLPVP
260 270 280 290 300
PMPPRPPMVP MPPRPPIAPM PPMAPVPPGS RMAPVPPGPR MAPVPPWPPM
310 320 330 340 350
APVPPWPPMA PVPTGPPMAP VPPGPPMARV PPGPPMARVP PGPPMAPLPP
360 370 380 390 400
GPPMAPLPPG PPMAPLPPGP PMAPLPPRSH VPHTGLAPVH ITWAPVINSY
YACPFF
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 320 | P → R in AAH42633 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 320 | P → R in AAH53599 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 338 – 339 | RV → PL in AAH42633 (PubMed:15489334).Curated | 2 | |
Sequence conflicti | 338 – 339 | RV → PL in AAH53599 (PubMed:15489334).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059352 | 314 | T → P. Corresponds to variant dbSNP:rs9697856Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY114148 mRNA Translation: AAM62141.1 AL049631 Genomic DNA No translation available. CH471120 Genomic DNA Translation: EAX02755.1 BC042633 mRNA Translation: AAH42633.1 BC053599 mRNA Translation: AAH53599.1 |
CCDSi | CCDS14516.1 |
RefSeqi | NP_703149.1, NM_153448.3 |
Genome annotation databases
Ensembli | ENST00000372588; ENSP00000361669; ENSG00000123576 |
GeneIDi | 80712 |
KEGGi | hsa:80712 |
UCSCi | uc004ely.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY114148 mRNA Translation: AAM62141.1 AL049631 Genomic DNA No translation available. CH471120 Genomic DNA Translation: EAX02755.1 BC042633 mRNA Translation: AAH42633.1 BC053599 mRNA Translation: AAH53599.1 |
CCDSi | CCDS14516.1 |
RefSeqi | NP_703149.1, NM_153448.3 |
3D structure databases
SMRi | Q8N693 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123270, 3 interactors |
IntActi | Q8N693, 3 interactors |
MINTi | Q8N693 |
STRINGi | 9606.ENSP00000361669 |
PTM databases
iPTMneti | Q8N693 |
PhosphoSitePlusi | Q8N693 |
Genetic variation databases
BioMutai | ESX1 |
DMDMi | 116241356 |
Proteomic databases
EPDi | Q8N693 |
MassIVEi | Q8N693 |
PaxDbi | Q8N693 |
PeptideAtlasi | Q8N693 |
PRIDEi | Q8N693 |
ProteomicsDBi | 72146 |
Protocols and materials databases
Antibodypediai | 15003, 128 antibodies |
Genome annotation databases
Ensembli | ENST00000372588; ENSP00000361669; ENSG00000123576 |
GeneIDi | 80712 |
KEGGi | hsa:80712 |
UCSCi | uc004ely.4, human |
Organism-specific databases
CTDi | 80712 |
DisGeNETi | 80712 |
GeneCardsi | ESX1 |
HGNCi | HGNC:14865, ESX1 |
HPAi | ENSG00000123576, Tissue enriched (testis) |
MIMi | 300154, gene |
neXtProti | NX_Q8N693 |
OpenTargetsi | ENSG00000123576 |
PharmGKBi | PA27892 |
VEuPathDBi | HostDB:ENSG00000123576.5 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0490, Eukaryota |
GeneTreei | ENSGT00940000163297 |
HOGENOMi | CLU_044595_0_0_1 |
InParanoidi | Q8N693 |
OMAi | APVRITW |
OrthoDBi | 1270742at2759 |
PhylomeDBi | Q8N693 |
TreeFami | TF315976 |
Enzyme and pathway databases
PathwayCommonsi | Q8N693 |
Miscellaneous databases
BioGRID-ORCSi | 80712, 3 hits in 522 CRISPR screens |
GeneWikii | ESX1 |
GenomeRNAii | 80712 |
Pharosi | Q8N693, Tbio |
PROi | PR:Q8N693 |
RNActi | Q8N693, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000123576, Expressed in testis and 21 other tissues |
Genevisiblei | Q8N693, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR013847, POU |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00028, POUDOMAIN |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ESX1_HUMAN | |
Accessioni | Q8N693Primary (citable) accession number: Q8N693 Secondary accession number(s): B0QYU3, Q7Z6K7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 7, 2004 |
Last sequence update: | October 17, 2006 | |
Last modified: | February 10, 2021 | |
This is version 149 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 X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot