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Protein

Homeobox protein ESX1

Gene

ESX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi139 – 198HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  • sequence-specific DNA binding Source: UniProtKB
  • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding Source: NTNU_SB

GO - Biological processi

  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  • regulation of cell cycle Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123576-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein ESX1
Alternative name(s):
Extraembryonic, spermatogenesis, homeobox 1
Cleaved into the following 2 chains:
Gene namesi
Name:ESX1
Synonyms:ESX1L, ESX1R
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:14865. ESX1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi80712.
OpenTargetsiENSG00000123576.
PharmGKBiPA27892.

Polymorphism and mutation databases

BioMutaiESX1.
DMDMi116241356.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000386626? – 406Homeobox protein ESX1-C
ChainiPRO_00000488761 – 406Homeobox protein ESX1Add BLAST406
ChainiPRO_00003866251 – ?Homeobox protein ESX1-N

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

PaxDbiQ8N693.
PeptideAtlasiQ8N693.
PRIDEiQ8N693.

PTM databases

iPTMnetiQ8N693.
PhosphoSitePlusiQ8N693.

Expressioni

Tissue specificityi

Expressed in placenta and testis. Expressed in testicular germ cell tumors.2 Publications

Gene expression databases

BgeeiENSG00000123576.
CleanExiHS_ESX1.
GenevisibleiQ8N693. HS.

Organism-specific databases

HPAiHPA051992.

Interactioni

Protein-protein interaction databases

BioGridi123270. 3 interactors.
IntActiQ8N693. 3 interactors.
MINTiMINT-7970367.
STRINGi9606.ENSP00000361669.

Structurei

3D structure databases

ProteinModelPortaliQ8N693.
SMRiQ8N693.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati244 – 25219
Repeati253 – 26129
Repeati262 – 27039
Repeati271 – 27949
Repeati280 – 28859
Repeati289 – 29769
Repeati298 – 30679
Repeati307 – 31589
Repeati316 – 32499
Repeati325 – 333109
Repeati334 – 342119
Repeati343 – 351129
Repeati352 – 360139
Repeati361 – 369149
Repeati370 – 378159

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni244 – 37815 X 9 AA tandem repeats of P-P-x-x-P-x-P-P-xAdd BLAST135

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi138 – 143Nuclear localization signalSequence analysis6

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox, Repeat

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00820000127081.
HOGENOMiHOG000198273.
HOVERGENiHBG084082.
InParanoidiQ8N693.
KOiK18491.
OMAiGPPMTPM.
OrthoDBiEOG091G0L2D.
PhylomeDBiQ8N693.
TreeFamiTF315976.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR013847. POU.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8N693-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:406
Mass (Da):44,297
Last modified:October 17, 2006 - v3
Checksum:i7013E3986F1148FA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti320P → R in AAH42633 (PubMed:15489334).Curated1
Sequence conflicti320P → R in AAH53599 (PubMed:15489334).Curated1
Sequence conflicti338 – 339RV → PL in AAH42633 (PubMed:15489334).Curated2
Sequence conflicti338 – 339RV → PL in AAH53599 (PubMed:15489334).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059352314T → P.Corresponds to variant rs9697856dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY114148 mRNA. Translation: AAM62141.1.
AL049631 Genomic DNA. Translation: CAQ08095.1.
CH471120 Genomic DNA. Translation: EAX02755.1.
BC042633 mRNA. Translation: AAH42633.1.
BC053599 mRNA. Translation: AAH53599.1.
CCDSiCCDS14516.1.
RefSeqiNP_703149.1. NM_153448.3.
UniGeneiHs.223782.

Genome annotation databases

EnsembliENST00000372588; ENSP00000361669; ENSG00000123576.
GeneIDi80712.
KEGGihsa:80712.
UCSCiuc004ely.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY114148 mRNA. Translation: AAM62141.1.
AL049631 Genomic DNA. Translation: CAQ08095.1.
CH471120 Genomic DNA. Translation: EAX02755.1.
BC042633 mRNA. Translation: AAH42633.1.
BC053599 mRNA. Translation: AAH53599.1.
CCDSiCCDS14516.1.
RefSeqiNP_703149.1. NM_153448.3.
UniGeneiHs.223782.

3D structure databases

ProteinModelPortaliQ8N693.
SMRiQ8N693.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123270. 3 interactors.
IntActiQ8N693. 3 interactors.
MINTiMINT-7970367.
STRINGi9606.ENSP00000361669.

PTM databases

iPTMnetiQ8N693.
PhosphoSitePlusiQ8N693.

Polymorphism and mutation databases

BioMutaiESX1.
DMDMi116241356.

Proteomic databases

PaxDbiQ8N693.
PeptideAtlasiQ8N693.
PRIDEiQ8N693.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372588; ENSP00000361669; ENSG00000123576.
GeneIDi80712.
KEGGihsa:80712.
UCSCiuc004ely.4. human.

Organism-specific databases

CTDi80712.
DisGeNETi80712.
GeneCardsiESX1.
HGNCiHGNC:14865. ESX1.
HPAiHPA051992.
MIMi300154. gene.
neXtProtiNX_Q8N693.
OpenTargetsiENSG00000123576.
PharmGKBiPA27892.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00820000127081.
HOGENOMiHOG000198273.
HOVERGENiHBG084082.
InParanoidiQ8N693.
KOiK18491.
OMAiGPPMTPM.
OrthoDBiEOG091G0L2D.
PhylomeDBiQ8N693.
TreeFamiTF315976.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123576-MONOMER.

Miscellaneous databases

GeneWikiiESX1.
GenomeRNAii80712.
PROiQ8N693.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123576.
CleanExiHS_ESX1.
GenevisibleiQ8N693. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR013847. POU.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiESX1_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 121 of the entry and version 3 of the sequence. [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 X
    Human chromosome X: 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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.