Seroatlas · Human Serome Atlas

GBA1

Lysosomal acid glucosylceramidase

Also known as: GBA, GBA1_HUMAN, GLUC

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

Protein identityUniProt · HPA

UniProt accession
P04062
Gene
GBA1
Ensembl
ENSG00000177628
Chromosome
1
Canonical length
536 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

536 residues, UniProt reviewed canonical sequence.

>P04062|GBA1
     1  MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
    61  YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
   121  GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
   181  FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
   241  GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
   301  RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
   361  ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
   421  NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
   481  NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GBA1 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
0
Mean surface accessibility (rSASA)
0.23
Highest tissue expression
98 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 98 nTPM
  • choroid plexus: 55 nTPM
  • epididymis: 48 nTPM
  • pituitary gland: 41 nTPM
  • bone marrow: 40 nTPM
  • rectum: 38 nTPM

Single-cell type

  • syncytiotrophoblasts: 19 nCPM
  • esophageal apical cells: 18 nCPM
  • proximal tubule cells: 16 nCPM
  • podocytes: 13 nCPM
  • loop of henle epithelial cells: 11 nCPM
  • distal convoluted tubule cells: 9.7 nCPM

Immune cell

  • non-classical monocyte: 38 nTPM
  • classical monocyte: 36 nTPM
  • intermediate monocyte: 36 nTPM
  • neutrophil: 30 nTPM
  • T-reg: 24 nTPM
  • total PBMC: 23 nTPM

Brain region

  • pons: 61 nTPM
  • thalamus: 48 nTPM
  • white matter: 45 nTPM
  • midbrain: 44 nTPM
  • medulla oblongata: 43 nTPM
  • hypothalamus: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GBA1.

Disease | AllUniProt

Conditions GBA1 is implicated in, by any mechanism.

Disease | GeneticClinVar

364 pathogenic / likely-pathogenic of 752 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Gaucher disease
  • Gaucher disease type I
  • Gaucher disease type II
  • Gaucher disease type III
  • 7 conditions

Disease | ImmuneIEDB

Conditions an epitope on GBA1 was assayed in.

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)
0.8
gnomAD pLI
0
DepMap mean gene effect
-0.06
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% 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

  • Glycoside hydrolase superfamily
  • Glycoside hydrolase family 30
  • Glycosyl hydrolase family 30, beta sandwich domain
  • Glycosyl hydrolase family 30, TIM-barrel domain
  • Glycosyl hydrolase family 30 TIM-barrel domain
  • Glycosyl hydrolase family 30 beta sandwich domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GBA1 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 GBA1 as an antibody target. Whether an autoantibody or antibody against GBA1 could matter depends on whether native GBA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GBA1 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 GBA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GBA1. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...