Seroatlas · Human Serome Atlas

B4GALNT1

Beta-1,4 N-acetylgalactosaminyltransferase 1

Also known as: B4GN1_HUMAN, beta1-4GalNAc-T, GALGT, SPG26

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

Protein identityUniProt · HPA

UniProt accession
Q00973
Gene
B4GALNT1
Ensembl
ENSG00000135454
Chromosome
12
Canonical length
533 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Secretome location
Intracellular and membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

Canonical amino-acid sequenceUniProt

533 residues, UniProt reviewed canonical sequence.

>Q00973|B4GALNT1
     1  MWLGRRALCA LVLLLACASL GLLYASTRDA PGLRLPLAPW APPQSPRRPE LPDLAPEPRY
    61  AHIPVRIKEQ VVGLLAWNNC SCESSGGGLP LPFQKQVRAI DLTKAFDPAE LRAASATREQ
   121  EFQAFLSRSQ SPADQLLIAP ANSPLQYPLQ GVEVQPLRSI LVPGLSLQAA SGQEVYQVNL
   181  TASLGTWDVA GEVTGVTLTG EGQADLTLVS PGLDQLNRQL QLVTYSSRSY QTNTADTVRF
   241  STEGHEAAFT IRIRHPPNPR LYPPGSLPQG AQYNISALVT IATKTFLRYD RLRALITSIR
   301  RFYPTVTVVI ADDSDKPERV SGPYVEHYLM PFGKGWFAGR NLAVSQVTTK YVLWVDDDFV
   361  FTARTRLERL VDVLERTPLD LVGGAVREIS GFATTYRQLL SVEPGAPGLG NCLRQRRGFH
   421  HELVGFPGCV VTDGVVNFFL ARTDKVREVG FDPRLSRVAH LEFFLDGLGS LRVGSCSDVV
   481  VDHASKLKLP WTSRDAGAET YARYRYPGSL DESQMAKHRL LFFKHRLQCM TSQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B4GALNT1 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
1
Mean surface accessibility (rSASA)
0.32
Highest tissue expression
84 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 84 nTPM
  • cerebral cortex: 47 nTPM
  • hippocampal formation: 34 nTPM
  • basal ganglia: 33 nTPM
  • amygdala: 26 nTPM
  • hypothalamus: 24 nTPM

Single-cell type

  • brain excitatory neurons: 39 nCPM
  • brain inhibitory neurons: 33 nCPM
  • other brain neurons: 32 nCPM
  • schwann cells: 21 nCPM
  • retinal amacrine cells: 16 nCPM
  • vascular smooth muscle cells: 13 nCPM

Immune cell

  • gdT-cell: 0.3 nTPM
  • NK-cell: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • cerebral cortex: 102 nTPM
  • hippocampal formation: 77 nTPM
  • white matter: 65 nTPM
  • cerebellum: 64 nTPM
  • basal ganglia: 61 nTPM
  • amygdala: 58 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about B4GALNT1.

Disease | AllUniProt

Conditions B4GALNT1 is implicated in, by any mechanism.

  • Spastic paraplegia 26, autosomal recessive (SPG26) MIM:609195

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 400 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)
0.79
gnomAD pLI
0
gnomAD missense Z
0.92
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads B4GALNT1 as an antibody target. Whether an autoantibody or antibody against B4GALNT1 could matter depends on whether native B4GALNT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

B4GALNT1 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 B4GALNT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/B4GALNT1. 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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