Seroatlas · Human Serome Atlas

KDSR

3-ketodihydrosphingosine reductase

Also known as: DHSR, FVT1, KDSR_HUMAN, SDR35C1

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

Protein identityUniProt · HPA

UniProt accession
Q06136
Gene
KDSR
Ensembl
ENSG00000119537
Chromosome
18
Canonical length
332 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

332 residues, UniProt reviewed canonical sequence.

>Q06136|KDSR
     1  MLLLAAAFLV AFVLLLYMVS PLISPKPLAL PGAHVVVTGG SSGIGKCIAI ECYKQGAFIT
    61  LVARNEDKLL QAKKEIEMHS INDKQVVLCI SVDVSQDYNQ VENVIKQAQE KLGPVDMLVN
   121  CAGMAVSGKF EDLEVSTFER LMSINYLGSV YPSRAVITTM KERRVGRIVF VSSQAGQLGL
   181  FGFTAYSASK FAIRGLAEAL QMEVKPYNVY ITVAYPPDTD TPGFAEENRT KPLETRLISE
   241  TTSVCKPEQV AKQIVKDAIQ GNFNSSLGSD GYMLSALTCG MAPVTSITEG LQQVVTMGLF
   301  RTIALFYLGS FDSIVRRCMM QREKSENADK TA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KDSR 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
2
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
21 nTPM

Expression across tissuesHPA

Tissue

  • liver: 21 nTPM
  • epididymis: 20 nTPM
  • spinal cord: 18 nTPM
  • skin: 17 nTPM
  • blood vessel: 16 nTPM
  • ovary: 15 nTPM

Single-cell type

  • ocular epithelial cells: 251 nCPM
  • basal keratinocytes: 197 nCPM
  • epididymal basal cells: 186 nCPM
  • salivary basal cells: 183 nCPM
  • salivary myoepithelial cells: 162 nCPM
  • epididymal principal cells: 153 nCPM

Immune cell

  • MAIT T-cell: 27 nTPM
  • T-reg: 19 nTPM
  • NK-cell: 14 nTPM
  • memory CD4 T-cell: 14 nTPM
  • memory CD8 T-cell: 10 nTPM
  • naive CD4 T-cell: 9.3 nTPM

Brain region

  • white matter: 45 nTPM
  • medulla oblongata: 42 nTPM
  • cerebellum: 40 nTPM
  • pons: 40 nTPM
  • basal ganglia: 40 nTPM
  • spinal cord: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KDSR.

Disease | AllUniProt

Conditions KDSR is implicated in, by any mechanism.

  • Erythrokeratodermia variabilis et progressiva 4 (EKVP4) MIM:617526

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 75 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)
0.58
gnomAD pLI
0.12
gnomAD missense Z
0.94
DepMap mean gene effect
-0.19
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

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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