Seroatlas · Human Serome Atlas

DEGS1

Sphingolipid delta(4)-desaturase DES1

Also known as: DEGS-1, DEGS1_HUMAN, Des-1, DES1, FADS7, MLD

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

Protein identityUniProt · HPA

UniProt accession
O15121
Gene
DEGS1
Ensembl
ENSG00000143753
Chromosome
1
Canonical length
323 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location
Mitochondria

OverviewNCBI Gene

This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

323 residues, UniProt reviewed canonical sequence.

>O15121|DEGS1
     1  MGSRVSREDF EWVYTDQPHA DRRREILAKY PEIKSLMKPD PNLIWIIIMM VLTQLGAFYI
    61  VKDLDWKWVI FGAYAFGSCI NHSMTLAIHE IAHNAAFGNC KAMWNRWFGM FANLPIGIPY
   121  SISFKRYHMD HHRYLGADGV DVDIPTDFEG WFFCTAFRKF IWVILQPLFY AFRPLFINPK
   181  PITYLEVINT VAQVTFDILI YYFLGIKSLV YMLAASLLGL GLHPISGHFI AEHYMFLKGH
   241  ETYSYYGPLN LLTFNVGYHN EHHDFPNIPG KSLPLVRKIA AEYYDNLPHY NSWIKVLYDF
   301  VMDDTISPYS RMKRHQKGEM VLE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEGS1 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)
0.23
Highest tissue expression
505 nTPM

Expression across tissuesHPA

Tissue

  • skin: 505 nTPM
  • placenta: 121 nTPM
  • prostate: 78 nTPM
  • vagina: 71 nTPM
  • cervix: 66 nTPM
  • smooth muscle: 66 nTPM

Single-cell type

  • cytotrophoblasts: 362 nCPM
  • basal keratinocytes: 244 nCPM
  • suprabasal keratinocytes: 240 nCPM
  • syncytiotrophoblasts: 237 nCPM
  • endometrial glandular cells: 227 nCPM
  • migrating cytotrophoblasts: 187 nCPM

Immune cell

  • eosinophil: 121 nTPM
  • basophil: 105 nTPM
  • myeloid DC: 105 nTPM
  • naive B-cell: 75 nTPM
  • neutrophil: 68 nTPM
  • intermediate monocyte: 68 nTPM

Brain region

  • white matter: 67 nTPM
  • choroid plexus: 63 nTPM
  • spinal cord: 53 nTPM
  • medulla oblongata: 51 nTPM
  • hypothalamus: 48 nTPM
  • midbrain: 48 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DEGS1.

Disease | AllUniProt

Conditions DEGS1 is implicated in, by any mechanism.

  • Leukodystrophy, hypomyelinating, 18 (HLD18) MIM:618404

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 108 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)
0.78
gnomAD pLI
0.14
gnomAD missense Z
0.8
DepMap mean gene effect
0.06
DepMap dependency class
none

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DEGS1 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 DEGS1 as an antibody target. Whether an autoantibody or antibody against DEGS1 could matter depends on whether native DEGS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEGS1 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 DEGS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DEGS1. 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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