Seroatlas · Human Serome Atlas

ELOVL4

Very long chain fatty acid elongase 4

Also known as: CT118, ELOV4_HUMAN, SCA34, STGD2, STGD3

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

Protein identityUniProt · HPA

UniProt accession: Q9GZR5
Gene: ELOVL4
Ensembl: ENSG00000118402
Chromosome: 6
Canonical length: 314 aa
Protein class: Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

314 residues, UniProt reviewed canonical sequence.

>Q9GZR5|ELOVL4
     1  MGLLDSEPGS VLNVVSTALN DTVEFYRWTW SIADKRVENW PLMQSPWPTL SISTLYLLFV
    61  WLGPKWMKDR EPFQMRLVLI IYNFGMVLLN LFIFRELFMG SYNAGYSYIC QSVDYSNNVH
   121  EVRIAAALWW YFVSKGVEYL DTVFFILRKK NNQVSFLHVY HHCTMFTLWW IGIKWVAGGQ
   181  AFFGAQLNSF IHVIMYSYYG LTAFGPWIQK YLWWKRYLTM LQLIQFHVTI GHTALSLYTD
   241  CPFPKWMHWA LIAYAISFIF LFLNFYIRTY KEPKKPKAGK TAMNGISANG VSKSEKQLMI
   301  ENGKKQKNGK AKGD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELOVL4 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: 7
Mean surface accessibility (rSASA): 0.36
Highest tissue expression: 164 nTPM

Expression across tissuesHPA

Tissue

retina: 164 nTPM
thymus: 98 nTPM
skin: 41 nTPM
cerebellum: 20 nTPM
cerebral cortex: 14 nTPM
hypothalamus: 12 nTPM

Single-cell type

rod photoreceptor cells: 354 nCPM
esophageal apical cells: 188 nCPM
cone photoreceptor cells: 162 nCPM
esophageal suprabasal cells: 89 nCPM
suprabasal keratinocytes: 80 nCPM
other brain neurons: 64 nCPM

Immune cell

MAIT T-cell: 24 nTPM
memory CD8 T-cell: 3.9 nTPM
memory CD4 T-cell: 3.3 nTPM
gdT-cell: 2.3 nTPM
naive CD8 T-cell: 1.6 nTPM
total PBMC: 0.9 nTPM

Brain region

cerebral cortex: 39 nTPM
pons: 37 nTPM
hypothalamus: 28 nTPM
choroid plexus: 27 nTPM
cerebellum: 27 nTPM
medulla oblongata: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELOVL4.

Disease | AllUniProt

Conditions ELOVL4 is implicated in, by any mechanism.

Stargardt disease 3 (STGD3) MIM:600110
Ichthyosis, spastic quadriplegia, and impaired intellectual development (ISQMR) MIM:614457
Spinocerebellar ataxia 34 (SCA34) MIM:133190

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 356 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Stargardt disease 3
Spinocerebellar ataxia type 34
ELOVL4-related disorder
Retinal dystrophy

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): 0.41
gnomAD pLI: 0.83
gnomAD missense Z: 1.19
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

ELO family
ELO family, conserved site
GNS1/SUR4 family
Elongation of very long chain fatty acids protein 4

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ELOVL4 as an antibody target. Whether an autoantibody or antibody against ELOVL4 could matter depends on whether native ELOVL4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ELOVL4 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 ELOVL4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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