Seroatlas · Human Serome Atlas

UBIAD1

UbiA prenyltransferase domain-containing protein 1

Also known as: SCCD, TERE1, UBIA1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9Y5Z9
Gene
UBIAD1
Ensembl
ENSG00000120942
Chromosome
1
Canonical length
338 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location
Vesicles

OverviewNCBI Gene

This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

338 residues, UniProt reviewed canonical sequence.

>Q9Y5Z9|UBIAD1
     1  MAASQVLGEK INILSGETVK AGDRDPLGND CPEQDRLPQR SWRQKCASYV LALRPWSFSA
    61  SLTPVALGSA LAYRSHGVLD PRLLVGCAVA VLAVHGAGNL VNTYYDFSKG IDHKKSDDRT
   121  LVDRILEPQD VVRFGVFLYT LGCVCAACLY YLSPLKLEHL ALIYFGGLSG SFLYTGGIGF
   181  KYVALGDLII LITFGPLAVM FAYAIQVGSL AIFPLVYAIP LALSTEAILH SNNTRDMESD
   241  REAGIVTLAI LIGPTFSYIL YNTLLFLPYL VFSILATHCT ISLALPLLTI PMAFSLERQF
   301  RSQAFNKLPQ RTAKLNLLLG LFYVFGIILA PAGSLPKI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UBIAD1 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
17 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 17 nTPM
  • tongue: 13 nTPM
  • thymus: 11 nTPM
  • pancreas: 10 nTPM
  • ovary: 10 nTPM
  • tonsil: 9.9 nTPM

Single-cell type

  • late primary spermatocytes: 43 nCPM
  • tuft cells: 35 nCPM
  • late spermatids: 33 nCPM
  • early spermatids: 29 nCPM
  • thymic myoid cells: 26 nCPM
  • myonuclei: 25 nCPM

Immune cell

  • naive CD4 T-cell: 49 nTPM
  • memory B-cell: 46 nTPM
  • naive B-cell: 42 nTPM
  • T-reg: 34 nTPM
  • naive CD8 T-cell: 33 nTPM
  • memory CD4 T-cell: 33 nTPM

Brain region

  • white matter: 24 nTPM
  • medulla oblongata: 19 nTPM
  • midbrain: 19 nTPM
  • basal ganglia: 19 nTPM
  • thalamus: 18 nTPM
  • cerebellum: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UBIAD1.

Disease | AllUniProt

Conditions UBIAD1 is implicated in, by any mechanism.

  • Corneal dystrophy, Schnyder type (SCCD) MIM:121800

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 138 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Schnyder crystalline corneal 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)
1.03
gnomAD pLI
0.02
gnomAD missense Z
1.12
DepMap mean gene effect
-0.5
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 UBIAD1 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 UBIAD1 as an antibody target. Whether an autoantibody or antibody against UBIAD1 could matter depends on whether native UBIAD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

UBIAD1 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 UBIAD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/UBIAD1. 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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