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Aliases for B4GALNT1 Gene

Aliases for B4GALNT1 Gene

  • Beta-1,4-N-Acetyl-Galactosaminyl Transferase 1 2 3
  • GALGT 3 4 6
  • UDP-N-Acetyl-Alpha-D-Galactosamine:(N-Acetylneuraminyl)-Galactosylglucosylceramide N-Acetylgalactosaminyltransferase (GalNAc-T) 2 3
  • UDP-Gal:BetaGlcNAc Beta-1,4-N-Acetylgalactosaminyltransferase Transferase 1 2 3
  • GM2/GD2 Synthase 3 4
  • EC 2.4.1.92 4 63
  • GalNAc-T 3 4
  • GALNACT 3 6
  • SPG26 3 6
  • (N-Acetylneuraminyl)-Galactosylglucosylceramide 4
  • Beta-1,4 N-Acetylgalactosaminyltransferase 1 3
  • GD2 Synthase, GM2 Synthase 3
  • Spastic Paraplegia 26 2
  • Beta1,4GalNAc-T 3
  • GD2 Synthase 2
  • GM2 Synthase 2
  • SIAT2 4

External Ids for B4GALNT1 Gene

Previous HGNC Symbols for B4GALNT1 Gene

  • GALGT
  • SPG26

Previous GeneCards Identifiers for B4GALNT1 Gene

  • GC12M056306
  • GC12M058019
  • GC12M055057

Summaries for B4GALNT1 Gene

Entrez Gene Summary for B4GALNT1 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]

GeneCards Summary for B4GALNT1 Gene

B4GALNT1 (Beta-1,4-N-Acetyl-Galactosaminyl Transferase 1) is a Protein Coding gene. Diseases associated with B4GALNT1 include spastic paraplegia 26, autosomal recessive and spastic paraplegia 26. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - ganglio series. GO annotations related to this gene include (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT2.

UniProtKB/Swiss-Prot for B4GALNT1 Gene

  • Involved in the biosynthesis of gangliosides GM2, GD2 and GA2

Gene Wiki entry for B4GALNT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALNT1 Gene

Genomics for B4GALNT1 Gene

Regulatory Elements for B4GALNT1 Gene

Genomic Location for B4GALNT1 Gene

Start:
57,623,409 bp from pter
End:
57,633,355 bp from pter
Size:
9,947 bases
Orientation:
Minus strand

Genomic View for B4GALNT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B4GALNT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALNT1 Gene

Proteins for B4GALNT1 Gene

  • Protein details for B4GALNT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00973-B4GN1_HUMAN
    Recommended name:
    Beta-1,4 N-acetylgalactosaminyltransferase 1
    Protein Accession:
    Q00973
    Secondary Accessions:
    • B4DE26
    • Q8N636

    Protein attributes for B4GALNT1 Gene

    Size:
    533 amino acids
    Molecular mass:
    58882 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

    Alternative splice isoforms for B4GALNT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B4GALNT1 Gene

Proteomics data for B4GALNT1 Gene at MOPED

Selected DME Specific Peptides for B4GALNT1 Gene

Post-translational modifications for B4GALNT1 Gene

  • Glycosylation at Asn79, Asn179, and Asn274
  • Modification sites at PhosphoSitePlus

Domains for B4GALNT1 Gene

Gene Families for B4GALNT1 Gene

HGNC:
  • B4GT :Beta 4-glycosyltransferases
  • GLT2 :Glycosyltransferase family 2 domain containing

Protein Domains for B4GALNT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q00973

UniProtKB/Swiss-Prot:

B4GN1_HUMAN :
  • Q00973
Family:
  • Belongs to the glycosyltransferase 2 family.
genes like me logo Genes that share domains with B4GALNT1: view

Function for B4GALNT1 Gene

Molecular function for B4GALNT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: UDP-N-acetyl-alpha-D-galactosamine + O-(N-acetyl-alpha-neuraminyl)-(2->3)-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide = UDP + O-2-(acetylamino)-2-deoxy-beta-D-galactopyranosyl-(1->4)-O-(N-acetyl-alpha-neuraminyl-(2->3))-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide
UniProtKB/Swiss-Prot Function: Involved in the biosynthesis of gangliosides GM2, GD2 and GA2

Enzyme Numbers (IUBMB) for B4GALNT1 Gene

Gene Ontology (GO) - Molecular Function for B4GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003947 (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity IEA --
GO:0008376 acetylgalactosaminyltransferase activity --
GO:0016740 transferase activity --
GO:0016758 transferase activity, transferring hexosyl groups --
genes like me logo Genes that share ontologies with B4GALNT1: view
genes like me logo Genes that share phenotypes with B4GALNT1: view

Animal Models for B4GALNT1 Gene

MGI Knock Outs for B4GALNT1:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for B4GALNT1 Gene

Localization for B4GALNT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALNT1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B4GALNT1 Gene COMPARTMENTS Subcellular localization image for B4GALNT1 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for B4GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane TAS 1601877
GO:0030173 integral component of Golgi membrane IEA --
genes like me logo Genes that share ontologies with B4GALNT1: view

Pathways for B4GALNT1 Gene

genes like me logo Genes that share pathways with B4GALNT1: view

Pathways by source for B4GALNT1 Gene

1 BioSystems pathway for B4GALNT1 Gene

UniProtKB/Swiss-Prot Q00973-B4GN1_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for B4GALNT1 Gene

Gene Ontology (GO) - Biological Process for B4GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001574 ganglioside biosynthetic process IEA --
GO:0005975 carbohydrate metabolic process TAS 1601877
GO:0006486 protein glycosylation IEA --
GO:0006687 glycosphingolipid metabolic process TAS 1601877
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with B4GALNT1: view

Compounds for B4GALNT1 Gene

(76) HMDB Compounds for B4GALNT1 Gene

Compound Synonyms Cas Number PubMed IDs
Ganglioside GA2 (d18:1/12:0)
  • Asialo GM2
88506-68-7
Ganglioside GA2 (d18:1/16:0)
  • Asialo GM2
88506-68-7
Ganglioside GA2 (d18:1/18:0)
  • Asialo GM2
88506-68-7
Ganglioside GA2 (d18:1/20:0)
  • Asialo GM2
88506-68-7
Ganglioside GA2 (d18:1/22:0)
  • Asialo GM2
88506-68-7

(3) Novoseek inferred chemical compound relationships for B4GALNT1 Gene

Compound -log(P) Hits PubMed IDs
asialo gm2 83.5 2
ganglioside 81.2 5
tyrosine 3.63 2
genes like me logo Genes that share compounds with B4GALNT1: view

Transcripts for B4GALNT1 Gene

Unigene Clusters for B4GALNT1 Gene

Beta-1,4-N-acetyl-galactosaminyl transferase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ·
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: -
SP5: -
SP6: -
SP7: - -
SP8: - -
SP9:
SP10:
SP11:
SP12:

ExUns: 15c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for B4GALNT1 Gene

GeneLoc Exon Structure for
B4GALNT1
ECgene alternative splicing isoforms for
B4GALNT1

Expression for B4GALNT1 Gene

mRNA expression in normal human tissues for B4GALNT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B4GALNT1 Gene

This gene is overexpressed in Brain - Cerebellum (6.0), Brain - Cerebellar Hemisphere (5.9), Brain - Frontal Cortex (BA9) (5.0), and Brain - Cortex (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for B4GALNT1 Gene

SOURCE GeneReport for Unigene cluster for B4GALNT1 Gene Hs.159481

genes like me logo Genes that share expressions with B4GALNT1: view

No data available for mRNA Expression by UniProt/SwissProt for B4GALNT1 Gene

Orthologs for B4GALNT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for B4GALNT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B4GALNT1 35
  • 99.69 (n)
  • 99.81 (a)
B4GALNT1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia B4GALNT1 35
  • 88.93 (n)
  • 90.99 (a)
GALGT 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALNT1 35
  • 89.81 (n)
  • 92.68 (a)
B4GALNT1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B4galnt1 35
  • 84.8 (n)
  • 86.87 (a)
B4galnt1 16
B4galnt1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B4GALNT1 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B4galnt1 35
  • 84.55 (n)
  • 87.62 (a)
lizard
(Anolis carolinensis)
Reptilia B4GALNT1 36
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53523 35
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galnt1 35
  • 58.19 (n)
  • 58.05 (a)
zebrafish
(Danio rerio)
Actinopterygii B4GALNT1 (2 of 2) 36
  • 55 (a)
OneToMany
b4galnt1a 36
  • 49 (a)
OneToMany
LOC793635 35
  • 61.34 (n)
  • 60.92 (a)
Species with no ortholog for B4GALNT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for B4GALNT1 Gene

ENSEMBL:
Gene Tree for B4GALNT1 (if available)
TreeFam:
Gene Tree for B4GALNT1 (if available)

Paralogs for B4GALNT1 Gene

Paralogs for B4GALNT1 Gene

genes like me logo Genes that share paralogs with B4GALNT1: view

Variants for B4GALNT1 Gene

Sequence variations from dbSNP and Humsavar for B4GALNT1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs703832 -- 57,630,843(-) AACGG(C/G)GGCTT intron-variant
rs715930 -- 57,630,198(-) CAACT(G/T)GTCAC reference, synonymous-codon
rs715931 -- 57,629,810(-) TGAGA(G/T)CCCAT intron-variant, utr-variant-3-prime
rs774896 - 57,632,030(+) AGGTA(C/G)CCGGA reference, missense
rs774897 -- 57,632,376(+) TCCTC(A/T)CACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B4GALNT1 Gene

Variant ID Type Subtype PubMed ID
nsv511490 CNV Loss 21212237

Relevant External Links for B4GALNT1 Gene

HapMap Linkage Disequilibrium report
B4GALNT1
Human Gene Mutation Database (HGMD)
B4GALNT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALNT1 Gene

Disorders for B4GALNT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for B4GALNT1 Gene including...

Search for B4GALNT1 Gene in MalaCards »

(1) OMIM Diseases for B4GALNT1 Gene (601873)

UniProtKB/Swiss-Prot

B4GN1_HUMAN
  • Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive. {ECO:0000269 PubMed:23746551}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(7) Novoseek inferred disease relationships for B4GALNT1 Gene

Disease -log(P) Hits PubMed IDs
melanoma 30.8 3
gastric cancer 24.9 2
colon cancer 13.6 1
cancer lung 0.883 1
breast cancer 0 2

Relevant External Links for B4GALNT1

Genetic Association Database (GAD)
B4GALNT1
Human Genome Epidemiology (HuGE) Navigator
B4GALNT1
genes like me logo Genes that share disorders with B4GALNT1: view

Publications for B4GALNT1 Gene

  1. Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population: clinical investigation. (PMID: 19318031) Boraska V. … Zemunik T. (Clin. Biochem. 2009) 3 23 48
  2. Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. (PMID: 1601877) Nagata Y. … Furukawa K. (J. Biol. Chem. 1992) 2 3 4
  3. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. (PMID: 23746551) Boukhris A. … Stevanin G. (Am. J. Hum. Genet. 2013) 2 3 4
  4. Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. (PMID: 8120069) Nagata Y. … Furukawa K. (J. Biol. Chem. 1994) 3 4
  5. Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains. (PMID: 11018043) Li J. … Young W.W. Jr. (J. Biol. Chem. 2000) 3 4

Products for B4GALNT1 Gene

Sources for B4GALNT1 Gene

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