Seroatlas · Human Serome Atlas

ELOVL1

Very long chain fatty acid elongase 1

Also known as: ELOV1_HUMAN, Ssc1

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

Protein identityUniProt · HPA

UniProt accession: Q9BW60
Gene: ELOVL1
Ensembl: ENSG00000066322
Chromosome: 1
Canonical length: 279 aa
Protein class: Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

279 residues, UniProt reviewed canonical sequence.

>Q9BW60|ELOVL1
     1  MEAVVNLYQE VMKHADPRIQ GYPLMGSPLL MTSILLTYVY FVLSLGPRIM ANRKPFQLRG
    61  FMIVYNFSLV ALSLYIVYEF LMSGWLSTYT WRCDPVDYSN SPEALRMVRV AWLFLFSKFI
   121  ELMDTVIFIL RKKDGQVTFL HVFHHSVLPW SWWWGVKIAP GGMGSFHAMI NSSVHVIMYL
   181  YYGLSAFGPV AQPYLWWKKH MTAIQLIQFV LVSLHISQYY FMSSCNYQYP VIIHLIWMYG
   241  TIFFMLFSNF WYHSYTKGKR LPRALQQNGA PGIAKVKAN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELOVL1 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): 0.28
Highest tissue expression: 357 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 357 nTPM
skin: 196 nTPM
esophagus: 174 nTPM
midbrain: 129 nTPM
hippocampal formation: 98 nTPM
vagina: 85 nTPM

Single-cell type

esophageal apical cells: 589 nCPM
breast lactating cells: 316 nCPM
esophageal suprabasal cells: 270 nCPM
extravillous trophoblasts: 164 nCPM
syncytiotrophoblasts: 111 nCPM
alveolar cells type 1: 110 nCPM

Immune cell

myeloid DC: 213 nTPM
total PBMC: 203 nTPM
classical monocyte: 190 nTPM
non-classical monocyte: 180 nTPM
intermediate monocyte: 180 nTPM
eosinophil: 173 nTPM

Brain region

white matter: 232 nTPM
medulla oblongata: 214 nTPM
cerebellum: 147 nTPM
pons: 134 nTPM
spinal cord: 133 nTPM
basal ganglia: 132 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELOVL1.

Disease | AllUniProt

Conditions ELOVL1 is implicated in, by any mechanism.

Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (IKSHD) MIM:618527

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 81 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features

Disease | ImmuneIEDB

Conditions an epitope on ELOVL1 was assayed in.

pancreatic ductal adenocarcinoma T cell

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): 0.46
gnomAD pLI: 0.68
gnomAD missense Z: 1.81
DepMap mean gene effect: -0.21
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

fatty acid elongase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

ELO family
ELO family, conserved site
GNS1/SUR4 family
Elongation of very long chain fatty acids protein 1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ELOVL1 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 ELOVL1 as an antibody target. Whether an autoantibody or antibody against ELOVL1 could matter depends on whether native ELOVL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ELOVL1 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 ELOVL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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