ELF4

Protein identityUniProt · HPA

UniProt accession

Q99607

Gene

ELF4

Ensembl

ENSG00000102034

Chromosome

X

Canonical length

663 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

663 residues, UniProt reviewed canonical sequence.

>Q99607|ELF4
     1  MAITLQPSDL IFEFASNGMD DDIHQLEDPS VFPAVIVEQV PYPDLLHLYS GLELDDVHNG
    61  IITDGTLCMT QDQILEGSFL LTDDNEATSH TMSTAEVLLN MESPSDILDE KQIFSTSEML
   121  PDSDPAPAVT LPNYLFPASE PDALNRAGDT SDQEGHSLEE KASREESAKK TGKSKKRIRK
   181  TKGNRSTSPV TDPSIPIRKK SKDGKGSTIY LWEFLLALLQ DRNTCPKYIK WTQREKGIFK
   241  LVDSKAVSKL WGKQKNKPDM NYETMGRALR YYYQRGILAK VEGQRLVYQF KEMPKDLVVI
   301  EDEDESSEAT AAPPQASTAS VASASTTRRT SSRVSSRSAP QGKGSSSWEK PKIQHVGLQP
   361  SASLELGPSL DEEIPTTSTM LVSPAEGQVK LTKAVSASSV PSNIHLGVAP VGSGSALTLQ
   421  TIPLTTVLTN GPPASTTAPT QLVLQSVPAA STFKDTFTLQ ASFPLNASFQ DSQVAAPGAP
   481  LILSGLPQLL AGANRPTNPA PPTVTGAGPA GPSSQPPGTV IAAFIRTSGT TAAPRVKEGP
   541  LRSSSYVQGM VTGAPMEGLL VPEETLRELL RDQAHLQPLP TQVVSRGSHN PSLLGNQTLS
   601  PPSRPTVGLT PVAELELSSG SGSLLMAEPS VTTSGSLLTR SPTPAPFSPF NPTSLIKMEP
   661  HDI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELF4 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)

0.66

Highest tissue expression

50 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELF4.

Disease | AllUniProt

Conditions ELF4 is implicated in, by any mechanism.

• Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (AIFBL2) MIM:301074

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
• Thyroid cancer, nonmedullary, 1

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)

0.64

gnomAD pLI

0.06

gnomAD missense Z

1.17

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• natural killer cell proliferation
• negative regulation of inflammatory response
• negative regulation of interleukin-1 beta production
• negative regulation of interleukin-6 production
• negative regulation of tumor necrosis factor production
• NK T cell proliferation
• positive regulation of DNA-templated transcription
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II

Molecular functions

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

Cellular components

• chromatin
• nuclear body
• nucleoplasm
• nucleus
• PML body

Protein domainsUniProt · Pfam · InterPro

• Ets domain
• Transcription factor Elf, N-terminal
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• ETS family
• Ets-domain
• Transcription factor protein N terminal

KeywordsUniProt

• Activator
• Chromosomal rearrangement
• DNA-binding
• Nucleus
• Phosphoprotein
• Proto-oncogene
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of ELF4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RUNX1
• SKP2
• PML