ESX1

Protein identityUniProt · HPA

UniProt accession

Q8N693

Gene

ESX1

Ensembl

ENSG00000123576

Chromosome

X

Canonical length

406 aa

Protein class

Predicted intracellular proteins, Transcription factors

Subcellular location

Nuclear speckles

OverviewNCBI Gene

This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

406 residues, UniProt reviewed canonical sequence.

>Q8N693|ESX1
     1  MESLRGYTHS DIGYRSLAVG EDIEEVNDEK LTVTSLMARG GEDEENTRSK PEYGTEAENN
    61  VGTEGSVPSD DQDREGGGGH EPEQQQEEPP LTKPEQQQEE PPLLELKQEQ EEPPQTTVEG
   121  PQPAEGPQTA EGPQPPERKR RRRTAFTQFQ LQELENFFDE SQYPDVVARE RLAARLNLTE
   181  DRVQVWFQNR RAKWKRNQRV LMLRNTATAD LAHPLDMFLG GAYYAAPALD PALCVHLVPQ
   241  LPRPPVLPVP PMPPRPPMVP MPPRPPIAPM PPMAPVPPGS RMAPVPPGPR MAPVPPWPPM
   301  APVPPWPPMA PVPTGPPMAP VPPGPPMARV PPGPPMARVP PGPPMAPLPP GPPMAPLPPG
   361  PPMAPLPPGP PMAPLPPRSH VPHTGLAPVH ITWAPVINSY YACPFF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ESX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.69

Highest tissue expression

8.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ESX1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 76 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Male infertility with azoospermia or oligozoospermia due to single gene mutation

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.75

gnomAD pLI

0.53

gnomAD missense Z

-0.04

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of DNA-templated transcription
• negative regulation of transcription by RNA polymerase II
• neuron development
• regulation of cell cycle
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• cytoplasm
• nuclear speck
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• POU domain
• Homeobox, conserved site
• Paired Homeobox Transcription Factors
• Homeodomain

KeywordsUniProt

• Cytoplasm
• DNA-binding
• Homeobox
• Nucleus
• Repeat
• Repressor
• Transcription
• Transcription regulation