Seroatlas · Human Serome Atlas

ELOVL5

Very long chain fatty acid elongase 5

Also known as: dJ483K16.1, ELOV5_HUMAN, HELO1, SCA38

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

Protein identityUniProt · HPA

UniProt accession
Q9NYP7
Gene
ELOVL5
Ensembl
ENSG00000012660
Chromosome
6
Canonical length
299 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Endoplasmic reticulum

OverviewNCBI Gene

This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

Canonical amino-acid sequenceUniProt

299 residues, UniProt reviewed canonical sequence.

>Q9NYP7|ELOVL5
     1  MEHFDASLST YFKALLGPRD TRVKGWFLLD NYIPTFICSV IYLLIVWLGP KYMRNKQPFS
    61  CRGILVVYNL GLTLLSLYMF CELVTGVWEG KYNFFCQGTR TAGESDMKII RVLWWYYFSK
   121  LIEFMDTFFF ILRKNNHQIT VLHVYHHASM LNIWWFVMNW VPCGHSYFGA TLNSFIHVLM
   181  YSYYGLSSVP SMRPYLWWKK YITQGQLLQF VLTIIQTSCG VIWPCTFPLG WLYFQIGYMI
   241  SLIALFTNFY IQTYNKKGAS RRKDHLKDHQ NGSMAAVNGH TNSFSPLENN VKPRKLRKD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELOVL5 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
Other membrane
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
227 nTPM

Expression across tissuesHPA

Tissue

  • adipose tissue: 227 nTPM
  • breast: 187 nTPM
  • adrenal gland: 129 nTPM
  • prostate: 120 nTPM
  • spinal cord: 115 nTPM
  • bone marrow: 108 nTPM

Single-cell type

  • neutrophils: 1,048 nCPM
  • alveolar cells type 2: 707 nCPM
  • prostatic glandular cells: 661 nCPM
  • breast hormone-responsive cells: 563 nCPM
  • innate lymphoid cells: 510 nCPM
  • mast cells: 499 nCPM

Immune cell

  • neutrophil: 262 nTPM
  • eosinophil: 184 nTPM
  • T-reg: 110 nTPM
  • naive B-cell: 102 nTPM
  • memory B-cell: 89 nTPM
  • myeloid DC: 78 nTPM

Brain region

  • white matter: 162 nTPM
  • medulla oblongata: 129 nTPM
  • cerebellum: 116 nTPM
  • pons: 114 nTPM
  • midbrain: 106 nTPM
  • spinal cord: 102 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELOVL5.

Disease | AllUniProt

Conditions ELOVL5 is implicated in, by any mechanism.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 167 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spinocerebellar ataxia type 38

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)
0.36
gnomAD pLI
0.93
gnomAD missense Z
1.52
DepMap mean gene effect
0.16
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ELOVL5 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 ELOVL5 as an antibody target. Whether an autoantibody or antibody against ELOVL5 could matter depends on whether native ELOVL5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ELOVL5 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 ELOVL5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ELOVL5. 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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