Seroatlas · Human Serome Atlas

GLB1

Beta-galactosidase

Also known as: BGAL_HUMAN, EBP, ELNR1

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

Protein identityUniProt · HPA

UniProt accession
P16278
Gene
GLB1
Ensembl
ENSG00000170266
Chromosome
3
Canonical length
677 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Golgi apparatus,Vesicles
Secretome location
Intracellular and membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]

Canonical amino-acid sequenceUniProt

677 residues, UniProt reviewed canonical sequence.

>P16278|GLB1
     1  MPGFLVRILP LLLVLLLLGP TRGLRNATQR MFEIDYSRDS FLKDGQPFRY ISGSIHYSRV
    61  PRFYWKDRLL KMKMAGLNAI QTYVPWNFHE PWPGQYQFSE DHDVEYFLRL AHELGLLVIL
   121  RPGPYICAEW EMGGLPAWLL EKESILLRSS DPDYLAAVDK WLGVLLPKMK PLLYQNGGPV
   181  ITVQVENEYG SYFACDFDYL RFLQKRFRHH LGDDVVLFTT DGAHKTFLKC GALQGLYTTV
   241  DFGTGSNITD AFLSQRKCEP KGPLINSEFY TGWLDHWGQP HSTIKTEAVA SSLYDILARG
   301  ASVNLYMFIG GTNFAYWNGA NSPYAAQPTS YDYDAPLSEA GDLTEKYFAL RNIIQKFEKV
   361  PEGPIPPSTP KFAYGKVTLE KLKTVGAALD ILCPSGPIKS LYPLTFIQVK QHYGFVLYRT
   421  TLPQDCSNPA PLSSPLNGVH DRAYVAVDGI PQGVLERNNV ITLNITGKAG ATLDLLVENM
   481  GRVNYGAYIN DFKGLVSNLT LSSNILTDWT IFPLDTEDAV RSHLGGWGHR DSGHHDEAWA
   541  HNSSNYTLPA FYMGNFSIPS GIPDLPQDTF IQFPGWTKGQ VWINGFNLGR YWPARGPQLT
   601  LFVPQHILMT SAPNTITVLE LEWAPCSSDD PELCAVTFVD RPVIGSSVTY DHPSKPVEKR
   661  LMPPPPQKNK DSWLDHV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GLB1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
98 nTPM

Expression across tissuesHPA

Tissue

  • epididymis: 98 nTPM
  • parathyroid gland: 56 nTPM
  • placenta: 51 nTPM
  • thyroid gland: 50 nTPM
  • liver: 45 nTPM
  • kidney: 43 nTPM

Single-cell type

  • cardiomyocytes: 147 nCPM
  • cytotrophoblasts: 142 nCPM
  • hofbauer cells: 113 nCPM
  • microglia: 109 nCPM
  • retinal ganglion cells: 100 nCPM
  • innate lymphoid cells: 99 nCPM

Immune cell

  • myeloid DC: 167 nTPM
  • classical monocyte: 146 nTPM
  • intermediate monocyte: 126 nTPM
  • non-classical monocyte: 92 nTPM
  • total PBMC: 92 nTPM
  • eosinophil: 87 nTPM

Brain region

  • choroid plexus: 27 nTPM
  • pons: 26 nTPM
  • white matter: 25 nTPM
  • hypothalamus: 24 nTPM
  • medulla oblongata: 23 nTPM
  • cerebral cortex: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GLB1.

Disease | AllUniProt

Conditions GLB1 is implicated in, by any mechanism.

Disease | GeneticClinVar

325 pathogenic / likely-pathogenic of 1,253 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Mucopolysaccharidosis, MPS-IV-B
  • GM1 gangliosidosis
  • Infantile GM1 gangliosidosis
  • GM1 gangliosidosis type 2
  • GM1 gangliosidosis type 3

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)
0.86
gnomAD pLI
0
gnomAD missense Z
0.79
DepMap mean gene effect
-0.05
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 GLB1 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 GLB1 as an antibody target. Whether an autoantibody or antibody against GLB1 could matter depends on whether native GLB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GLB1 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 GLB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GLB1. 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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