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 ... See more...

Aliases for B4GALNT1 Gene

Aliases for B4GALNT1 Gene

  • Beta-1,4-N-Acetyl-Galactosaminyltransferase 1 2 3 5
  • 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
  • Beta-1,4 N-Acetylgalactosaminyltransferase 1 3 4
  • GD2 Synthase, GM2 Synthase 2 3
  • GM2/GD2 Synthase 3 4
  • EC 2.4.1.92 4 50
  • GalNAc-T 3 4
  • GALGT 3 4
  • (N-Acetylneuraminyl)-Galactosylglucosylceramide 4
  • Beta-1,4-N-Acetyl-Galactosaminyl Transferase 1 3
  • Spastic Paraplegia 26 2
  • Beta1,4GalNAc-T 3
  • Beta1-4GalNAc-T 2
  • B4GALNT1 5
  • GALNACT 3
  • SPG26 3
  • 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-Galactosaminyltransferase 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 Sphingolipid metabolism and Glycosphingolipid biosynthesis - ganglio series. Gene Ontology (GO) annotations related to this gene include transferase activity and acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT2.

UniProtKB/Swiss-Prot Summary for B4GALNT1 Gene

  • Involved in the biosynthesis of gangliosides GM2, GD2, GT2 and GA2 from GM3, GD3, GT3 and GA3, respectively.

Gene Wiki entry for B4GALNT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GALNT1 Gene

Genomics for B4GALNT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for B4GALNT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B4GALNT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GALNT1

Top Transcription factor binding sites by QIAGEN in the B4GALNT1 gene promoter:
  • AML1a
  • c-Ets-1
  • Cdc5
  • En-1
  • FOXD1
  • GATA-2
  • HEN1
  • p53
  • POU2F1
  • POU2F1a

Genomic Locations for B4GALNT1 Gene

Latest Assembly
chr12:57,623,409-57,633,239
(GRCh38/hg38)
Size:
9,831 bases
Orientation:
Minus strand

Previous Assembly
chr12:58,017,192-58,026,984
(GRCh37/hg19 by Entrez Gene)
Size:
9,793 bases
Orientation:
Minus strand

chr12:58,017,193-58,027,138
(GRCh37/hg19 by Ensembl)
Size:
9,946 bases
Orientation:
Minus strand

Genomic View for B4GALNT1 Gene

Genes around B4GALNT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALNT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for B4GALNT1 Gene

Q00973:
  • GVVNFFLA
  • VGFDPRL
  • MPFGKGWFAGRNLA
  • SQVTTKYVLWVDDDF

Post-translational modifications for B4GALNT1 Gene

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

Domains & Families for B4GALNT1 Gene

Gene Families for B4GALNT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for B4GALNT1 Gene

InterPro:
Blocks:
  • Glycosyl transferase, family 2

Suggested Antigen Peptide Sequences for B4GALNT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55323, highly similar to Beta-1,4 N-acetylgalactosaminyltransferase 1 (EC 2.4.1.92) (B4DE26_HUMAN)
  • GalNAc-T (B4GN1_HUMAN)
  • Beta-1,4-N-acetyl-galactosaminyl transferase 1 isoform a (F8TDK4_HUMAN)
  • Beta-1,4-N-acetyl-galactosaminyl transferase 1 isoform b (F8TDK5_HUMAN)
  • Beta-1,4-N-acetyl-galactosaminyl transferase 1 isoform c (F8TDK6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00973

UniProtKB/Swiss-Prot:

B4GN1_HUMAN :
  • Belongs to the glycosyltransferase 2 family.
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 Function:
Involved in the biosynthesis of gangliosides GM2, GD2, GT2 and GA2 from GM3, GD3, GT3 and GA3, respectively.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GM3 (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GM2 (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:12588, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:60065, ChEBI:CHEBI:67138, ChEBI:CHEBI:71502; EC=2.4.1.92; Evidence={ECO:0000269|PubMed:1601877, ECO:0000269|PubMed:7890749};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GM3 + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GM2 + H(+) + UDP; Xref=Rhea:RHEA:43268, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:79210, ChEBI:CHEBI:79218; Evidence={ECO:0000269|PubMed:7487055, ECO:0000269|PubMed:7890749};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GD3 + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GD2 + H(+) + UDP; Xref=Rhea:RHEA:43272, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:79214, ChEBI:CHEBI:79220; Evidence={ECO:0000269|PubMed:7487055, ECO:0000269|PubMed:7890749};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GD3 (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GD2 (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:41816, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:78436, ChEBI:CHEBI:78542; Evidence={ECO:0000269|PubMed:7890749};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GA2 (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:47564, ChEBI:CHEBI:15378, ChEBI:CHEBI:17950, ChEBI:CHEBI:27731, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138; Evidence={ECO:0000305|PubMed:7890749};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GD1a + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GalNAc-GD1a + H(+) + UDP; Xref=Rhea:RHEA:43276, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:82637, ChEBI:CHEBI:82945; Evidence={ECO:0000250|UniProtKB:Q10468};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GT3 (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GT2 (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:47580, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:78438, ChEBI:CHEBI:87788; Evidence={ECO:0000250|UniProtKB:Q10468};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide + UDP-N-acetyl-alpha-D-galactosamine = H(+) + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide + UDP; Xref=Rhea:RHEA:62516, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:79208, ChEBI:CHEBI:90085; Evidence={ECO:0000269|PubMed:7890749};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-N-glycoloylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide + UDP-N-acetyl-alpha-D-galactosamine = H(+) + N-acetyl-beta-D-galactosaminyl-(1->4)-[alpha-N-glycoloylneuraminosyl-(2->3)]-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide + UDP; Xref=Rhea:RHEA:43300, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:82950, ChEBI:CHEBI:82951; Evidence={ECO:0000250|UniProtKB:Q10468};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=500 uM for GM3 {ECO:0000269|PubMed:7890749}; KM=40 uM for lactosylceramide {ECO:0000269|PubMed:7890749};

Enzyme Numbers (IUBMB) for B4GALNT1 Gene

Phenotypes From GWAS Catalog 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 TAS,IMP 1601877
GO:0008376 acetylgalactosaminyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
genes like me logo Genes that share ontologies with B4GALNT1: view
genes like me logo Genes that share phenotypes with B4GALNT1: view

Human Phenotype Ontology for B4GALNT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for B4GALNT1 Gene

MGI Knock Outs for B4GALNT1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALNT1

Clone products for research

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B4GALNT1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
extracellular 2
endoplasmic reticulum 2
lysosome 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for B4GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane TAS 1601877
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B4GALNT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALNT1 Gene

Pathways & Interactions for B4GALNT1 Gene

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

Pathways by source for B4GALNT1 Gene

UniProtKB/Swiss-Prot Q00973-B4GN1_HUMAN

  • Pathway: Sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for B4GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001574 ganglioside biosynthetic process IBA,IMP 1601877
GO:0005975 carbohydrate metabolic process TAS 1601877
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
genes like me logo Genes that share ontologies with B4GALNT1: view

No data available for SIGNOR curated interactions for B4GALNT1 Gene

Drugs & Compounds for B4GALNT1 Gene

(2) Drugs for B4GALNT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine 5'-diphosphate Experimental Pharma 0

(78) Additional Compounds for B4GALNT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CE(20:2(6Z,9Z))
  • LacCer(d18:1/16:0)
  • N-(Hexadecanoyl)-1-b-lactosyl-sphing-4-enine
  • 1-O-(4-O-b-D-Galactopyranosyl-b-D-glucopyranosyl)-ceramide
  • 1-O-(4-O-beta-D-Galactopyranosyl-beta-glucopyranosyl)ceramide
  • 1-O-(4-O-beta-D-Galactopyranosyl-beta-D-glucopyranosyl)-ceramide
4201-62-1, 77715-45-8
Ganglioside GA2 (d18:1/12:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
  • GA2 ganglioside
Ganglioside GA2 (d18:1/16:0)
  • N-[(2S,3R,4E)-1-{[(2R,4R,5S,6R)-5-{[(2S,3R,4R,5R,6R)-5-{[(2S,3R,4R,5R,6R)-4,5-dihydroxy-3-[(1-hydroxyethylidene)amino]-6-(hydroxymethyl)oxan-2-yl]oxy}-3,4-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}-3,4-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}-3-hydroxyoctadec-4-en-2-yl]hexadecanimidate
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
Ganglioside GA2 (d18:1/18:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
  • GA2 ganglioside
Ganglioside GA2 (d18:1/20:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
  • GA2 ganglioside
genes like me logo Genes that share compounds with B4GALNT1: view

Transcripts for B4GALNT1 Gene

mRNA/cDNA for B4GALNT1 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALNT1

Clone products for research

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

Expression for B4GALNT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x6.0), Brain - Cerebellar Hemisphere (x5.9), Brain - Frontal Cortex (BA9) (x5.0), and Brain - Cortex (x4.9).

Protein differential expression in normal tissues from HIPED for B4GALNT1 Gene

This gene is overexpressed in Bone (46.0), Liver (15.0), and Heart (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B4GALNT1 Gene



Protein tissue co-expression partners for B4GALNT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B4GALNT1

SOURCE GeneReport for Unigene cluster for B4GALNT1 Gene:

Hs.159481

Evidence on tissue expression from TISSUES for B4GALNT1 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALNT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Thorax:
  • diaphragm
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • digit
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with B4GALNT1: view

Primer products for research

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 29 30
  • 99.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GALGT 30
  • 91 (a)
OneToOne
B4GALNT1 29
  • 88.93 (n)
Dog
(Canis familiaris)
Mammalia B4GALNT1 29 30
  • 89.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia B4galnt1 29 16 30
  • 84.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia B4galnt1 29
  • 84.55 (n)
Oppossum
(Monodelphis domestica)
Mammalia B4GALNT1 30
  • 73 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia B4GALNT1 30
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia b4galnt1 29
  • 58.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53523 29
Zebrafish
(Danio rerio)
Actinopterygii LOC793635 29
  • 61.34 (n)
B4GALNT1 (2 of 2) 30
  • 55 (a)
OneToMany
b4galnt1a 30
  • 49 (a)
OneToMany
Species where no ortholog for B4GALNT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for B4GALNT1: view image
Alliance of Genome Resources:
Additional Orthologs for B4GALNT1

Paralogs for B4GALNT1 Gene

Paralogs for B4GALNT1 Gene

(1) SIMAP similar genes for B4GALNT1 Gene using alignment to 15 proteins:

  • B4GN1_HUMAN
  • B4DE26_HUMAN
  • B4DSP5_HUMAN
  • F8TDK4_HUMAN
  • F8TDK5_HUMAN
  • F8TDK6_HUMAN
  • F8TDK7_HUMAN
  • F8VR44_HUMAN
  • F8VSE0_HUMAN
  • F8VU35_HUMAN
  • F8VW33_HUMAN
  • F8W1A7_HUMAN
  • H0YHT1_HUMAN
  • H0YI57_HUMAN
  • Q8N636_HUMAN
genes like me logo Genes that share paralogs with B4GALNT1: view

Variants for B4GALNT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GALNT1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1000899 Uncertain Significance: Spastic paraplegia 57,630,497(-) G/A
NM_001478.5(B4GALNT1):c.512C>T (p.Ser171Phe)
MISSENSE
1003657 Uncertain Significance: Spastic paraplegia 57,628,838(-) G/A
NM_001478.5(B4GALNT1):c.877C>T (p.Arg293Trp)
MISSENSE
1012824 Uncertain Significance: not provided 57,627,865(-) G/A
NM_001478.5(B4GALNT1):c.1144-7C>T
INTRON
1035334 Uncertain Significance: Spastic paraplegia 57,630,263(-) C/G
NM_001478.5(B4GALNT1):c.601G>C (p.Glu201Gln)
MISSENSE
1036032 Uncertain Significance: Spastic paraplegia 57,626,908(-) C/T
NM_001478.5(B4GALNT1):c.1438G>A (p.Val480Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for B4GALNT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv482992 CNV gain+loss 15286789
nsv511490 CNV loss 21212237

Variation tolerance for B4GALNT1 Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.48; 77.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B4GALNT1 Gene

Human Gene Mutation Database (HGMD)
B4GALNT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B4GALNT1
Leiden Open Variation Database (LOVD)
B4GALNT1

SNP Genotyping and Copy Number Assays for research

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

Disorders for B4GALNT1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for B4GALNT1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
spastic paraplegia 26, autosomal recessive
  • spg26
spastic paraplegia 26
  • spg26
complex hereditary spastic paraplegia
  • complex hsp
paraplegia
  • paraplegia, lower
hereditary spastic paraplegia
  • familial spastic paraplegia
- elite association - COSMIC cancer census association via MalaCards

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 variants affecting the gene represented in this entry.

Additional Disease Information for B4GALNT1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with B4GALNT1: view

No data available for Genatlas for B4GALNT1 Gene

Publications for B4GALNT1 Gene

  1. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. (PMID: 23746551) Boukhris A … Stevanin G (American journal of human genetics 2013) 2 3 4 72
  2. Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population: clinical investigation. (PMID: 19318031) Boraska V … Zemunik T (Clinical biochemistry 2009) 3 22 40
  3. Substrate specificity of beta 1,4-N-acetylgalactosaminyltransferase in vitro and in cDNA-transfected cells. GM2/GD2 synthase efficiently generates asialo-GM2 in certain cells. (PMID: 7890749) Yamashiro S … Furukawa K (The Journal of biological chemistry 1995) 3 4 22
  4. Analysis of melanoma cells stably transfected with beta 1,4GalNAc transferase (GM2/GD2 synthase) cDNA: relative glycosyltransferase levels play a dominant role in determining ganglioside expression. (PMID: 7487055) Ruan S … Lloyd KO (Archives of biochemistry and biophysics 1995) 3 4 22
  5. Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. (PMID: 1601877) Nagata Y … Furukawa K (The Journal of biological chemistry 1992) 2 3 4

Products for B4GALNT1 Gene

Sources for B4GALNT1 Gene