Seroatlas · Human Serome Atlas

ELP4

Elongator complex protein 4

Also known as: C11orf19, ELP4_HUMAN, PAXNEB

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96EB1
Gene
ELP4
Ensembl
ENSG00000109911
Chromosome
11
Canonical length
424 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Canonical amino-acid sequenceUniProt

424 residues, UniProt reviewed canonical sequence.

>Q96EB1|ELP4
     1  MAAVATCGSV AASTGSAVAT ASKSNVTSFQ RRGPRASVTN DSGPRLVSIA GTRPSVRNGQ
    61  LLVSTGLPAL DQLLGGGLAV GTVLLIEEDK YNIYSPLLFK YFLAEGIVNG HTLLVASAKE
   121  DPANILQELP APLLDDKCKK EFDEDVYNHK TPESNIKMKI AWRYQLLPKM EIGPVSSSRF
   181  GHYYDASKRM PQELIEASNW HGFFLPEKIS STLKVEPCSL TPGYTKLLQF IQNIIYEEGF
   241  DGSNPQKKQR NILRIGIQNL GSPLWGDDIC CAENGGNSHS LTKFLYVLRG LLRTSLSACI
   301  ITMPTHLIQN KAIIARVTTL SDVVVGLESF IGSERETNPL YKDYHGLIHI RQIPRLNNLI
   361  CDESDVKDLA FKLKRKLFTI ERLHLPPDLS DTVSRSSKMD LAESAKRLGP GCGMMAGGKK
   421  HLDF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELP4 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)
0.37
Highest tissue expression
17 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 17 nTPM
  • thymus: 14 nTPM
  • retina: 12 nTPM
  • amygdala: 11 nTPM
  • basal ganglia: 11 nTPM
  • cerebral cortex: 10 nTPM

Single-cell type

  • retinal amacrine cells: 366 nCPM
  • retinal horizontal cells: 345 nCPM
  • bergmann glia: 332 nCPM
  • retinal ganglion cells: 305 nCPM
  • choroid plexus epithelial cells: 286 nCPM
  • myonuclei: 269 nCPM

Immune cell

  • T-reg: 10 nTPM
  • non-classical monocyte: 9.5 nTPM
  • myeloid DC: 9.3 nTPM
  • intermediate monocyte: 9.2 nTPM
  • memory B-cell: 9.1 nTPM
  • MAIT T-cell: 8.4 nTPM

Brain region

  • cerebellum: 72 nTPM
  • white matter: 31 nTPM
  • basal ganglia: 27 nTPM
  • cerebral cortex: 27 nTPM
  • thalamus: 25 nTPM
  • amygdala: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELP4.

Disease | AllUniProt

Conditions ELP4 is implicated in, by any mechanism.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 120 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.03
gnomAD pLI
0
gnomAD missense Z
-0.3
DepMap mean gene effect
-0.61
DepMap dependency class
common

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ELP4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ELP4 as an antibody target. Whether an autoantibody or antibody against ELP4 could matter depends on whether native ELP4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ELP4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ELP4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ELP4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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