B4GAT1 Gene (Protein Coding)

Beta-1,4-Glucuronyltransferase 1

GC11M066345
GIFtS:
36
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008] See more...

Aliases for B4GAT1 Gene

Aliases for B4GAT1 Gene

  • Beta-1,4-Glucuronyltransferase 1 2 3 4 5
  • N-Acetyllactosaminide Beta-1,3-N-Acetylglucosaminyltransferase 2 3 4
  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 1 2 3 4
  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 6 2 3
  • I-Beta-1,3-N-Acetylglucosaminyltransferase 3 4
  • Poly-N-Acetyllactosamine Extension Enzyme 3 4
  • B3GNT1 3 4
  • B3GNT6 3 4
  • Beta-1,3-N-Acetylglucosaminyltransferase BGnT-6 3
  • EC 2.4.1.149 52
  • EC 2.4.1.- 4
  • BETA3GNTI 3
  • B3GN-T1 3
  • MDDGA13 3
  • IGAT 3
  • IGNT 3
  • IGnT 4

External Ids for B4GAT1 Gene

Previous HGNC Symbols for B4GAT1 Gene

  • B3GNT6
  • B3GNT1

Summaries for B4GAT1 Gene

Entrez Gene Summary for B4GAT1 Gene

  • This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]

GeneCards Summary for B4GAT1 Gene

B4GAT1 (Beta-1,4-Glucuronyltransferase 1) is a Protein Coding gene. Diseases associated with B4GAT1 include Muscular Dystrophy-Dystroglycanopathy , Type A, 13 and Muscular Dystrophy-Dystroglycanopathy , Type A, 1. Among its related pathways are Metabolism of proteins and Keratan sulfate/keratin metabolism. Gene Ontology (GO) annotations related to this gene include glucuronosyltransferase activity and N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is LARGE2.

UniProtKB/Swiss-Prot Summary for B4GAT1 Gene

  • Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan (PubMed:25279699, PubMed:25279697). Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:25279697). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity).

Gene Wiki entry for B4GAT1 Gene

Additional gene information for B4GAT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GAT1 Gene

Genomics for B4GAT1 Gene

GeneHancer (GH) Regulatory Elements for B4GAT1 Gene

Promoters and enhancers for B4GAT1 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 B4GAT1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GAT1

Genomic Locations for B4GAT1 Gene

Genomic Locations for B4GAT1 Gene
chr11:66,345,372-66,347,690
(GRCh38/hg38)
Size:
2,319 bases
Orientation:
Minus strand
chr11:66,112,843-66,115,163
(GRCh37/hg19)
Size:
2,321 bases
Orientation:
Minus strand

Genomic View for B4GAT1 Gene

Genes around B4GAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B4GAT1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for B4GAT1 Gene

Proteins for B4GAT1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for B4GAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43505-B4GA1_HUMAN
    Recommended name:
    Beta-1,4-glucuronyltransferase 1
    Protein Accession:
    O43505
    Secondary Accessions:
    • Q4TTN0

    Protein attributes for B4GAT1 Gene

    Size:
    415 amino acids
    Molecular mass:
    47119 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with LARGE1 and LARGE2.

neXtProt entry for B4GAT1 Gene

Protein Expression for B4GAT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for B4GAT1 Gene

O43505:
  • ALVVPAFE
  • NKILYRQFKQELKA
  • SYPNNLLRNLARE
  • QYFEFFPPSPRSVDQVK
  • DPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAGF

Post-translational modifications for B4GAT1 Gene

  • Glycosylation at Asn204 and Asn300
  • Ubiquitination at Lys60 and Lys188
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • B4GA1_HUMAN (1033)

Other Protein References for B4GAT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for B4GAT1 Gene

Gene Families for B4GAT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for B4GAT1 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O43505

UniProtKB/Swiss-Prot:

B4GA1_HUMAN :
  • Belongs to the glycosyltransferase 49 family.
Family:
  • Belongs to the glycosyltransferase 49 family.
genes like me logo Genes that share domains with B4GAT1: view

No data available for Suggested Antigen Peptide Sequences for B4GAT1 Gene

Function for B4GAT1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for B4GAT1 Gene

UniProtKB/Swiss-Prot Function:
Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan (PubMed:25279699, PubMed:25279697). Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:25279697). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.0. {ECO:0000269 PubMed:25279699};

Enzyme Numbers (IUBMB) for B4GAT1 Gene

Phenotypes From GWAS Catalog for B4GAT1 Gene

Gene Ontology (GO) - Molecular Function for B4GAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19587235
GO:0008532 NOT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IDA 25279697
GO:0015020 glucuronosyltransferase activity IDA 25279697
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B4GAT1: view
genes like me logo Genes that share phenotypes with B4GAT1: view

Human Phenotype Ontology for B4GAT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for B4GAT1 Gene

MGI Knock Outs for B4GAT1:

miRNA for B4GAT1 Gene

miRTarBase miRNAs that target B4GAT1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for B4GAT1 Gene

Localization for B4GAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GAT1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein. Note=Localizes near the trans-Golgi apparatus. {ECO:0000269 PubMed:25279699}.

Gene Ontology (GO) - Cellular Components for B4GAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA,IEA 25279699
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030173 integral component of Golgi membrane NAS 9405606
genes like me logo Genes that share ontologies with B4GAT1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for B4GAT1 Gene

Pathways & Interactions for B4GAT1 Gene

genes like me logo Genes that share pathways with B4GAT1: view

Pathways by source for B4GAT1 Gene

1 BioSystems pathway for B4GAT1 Gene
2 KEGG pathways for B4GAT1 Gene

UniProtKB/Swiss-Prot O43505-B4GA1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B4GAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation TAS --
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0030311 NOT poly-N-acetyllactosamine biosynthetic process IDA 25279697
GO:0035269 protein O-linked mannosylation IDA 25279697
genes like me logo Genes that share ontologies with B4GAT1: view

No data available for SIGNOR curated interactions for B4GAT1 Gene

Drugs & Compounds for B4GAT1 Gene

Products:

  1. Drug

(1) Additional Compounds for B4GAT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with B4GAT1: view

Transcripts for B4GAT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for B4GAT1 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GAT1 Gene

No ASD Table

Relevant External Links for B4GAT1 Gene

GeneLoc Exon Structure for
B4GAT1

Expression for B4GAT1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for B4GAT1 Gene

mRNA expression in normal human tissues for B4GAT1 Gene
mRNA expression by GTEx for B4GAT1 Gene

Protein differential expression in normal tissues from HIPED for B4GAT1 Gene

This gene is overexpressed in Vitreous humor (23.0), Cerebrospinal fluid (22.0), and Amniocyte (15.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for B4GAT1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B4GAT1

mRNA Expression by UniProt/SwissProt for B4GAT1 Gene:

O43505-B4GA1_HUMAN
Tissue specificity: In the adult, highly expressed in heart, brain, skeletal muscle and kidney and to a lesser extent in placenta, pancreas, spleen, prostate, testis, ovary, small intestine and colon. Very weak expression in lung, liver, thymus and peripheral blood leukocytes. In fetal highly expressed in brain and kidney and to a lesser extent in lung and liver.

Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GAT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with B4GAT1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for B4GAT1 Gene

Orthologs for B4GAT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia B3GNT1 31 30
  • 99.84 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia B3GNT1 31 30
  • 92.61 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia B3GNT1 31 30
  • 92.53 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia B3gnt1 31 30
  • 88.67 (n)
 OneToOne
B4gat1 17
rat
(Rattus norvegicus)
 Mammalia LOC100911750 30
  • 88.27 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia B3GNT1 31
  • 71 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia B3GNT1 31
  • 62 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia B3GNT1 31
  • 54 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia b3gnt1 30
  • 58.02 (n)
Str.5619 30
zebrafish
(Danio rerio)
 Actinopterygii b3gnt1 31 30
  • 56.99 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG3253 31 30
  • 46.47 (n)
 OneToMany
CG15483 31
  • 21 (a)
 OneToMany
CG11149 31
  • 17 (a)
 OneToMany
CG9171 31
  • 15 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 32 (a)
 OneToOne
Species where no ortholog for B4GAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 B4GAT1 Gene

ENSEMBL:
Gene Tree for B4GAT1 (if available)
TreeFam:
Gene Tree for B4GAT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B4GAT1: view image

Paralogs for B4GAT1 Gene

Paralogs for B4GAT1 Gene

genes like me logo Genes that share paralogs with B4GAT1: view

Variants for B4GAT1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GAT1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
645033 Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 66,347,035(-) G/T SYNONYMOUS_VARIANT
648835 Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 66,346,524(-) C/T MISSENSE_VARIANT
664063 Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 66,347,032(-) C/G MISSENSE_VARIANT
664213 Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 66,346,562(-) G/C MISSENSE_VARIANT
678225 Benign: not provided 66,347,793(-) G/A

Additional dbSNP identifiers (rs#s) for B4GAT1 Gene

Additional Variant Information for B4GAT1 Gene

Human Gene Mutation Database (HGMD)
B4GAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B4GAT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for B4GAT1 Gene

Disorders for B4GAT1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for B4GAT1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type a, 13
  • mddga13
muscular dystrophy-dystroglycanopathy , type a, 1
  • mddga1
walker-warburg syndrome
  • hydrocephalus, agyria, and retinal dysplasia
muscular dystrophy-dystroglycanopathy
  • cmd due to dystroglycanopathy
cobblestone lissencephaly
  • lissencephaly type 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

B4GA1_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:23359570, ECO:0000269 PubMed:23877401}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for B4GAT1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with B4GAT1: view

No data available for Genatlas for B4GAT1 Gene

Publications for B4GAT1 Gene

  1. Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis. (PMID: 9405606) Sasaki K … Fukuda M (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23 54
  2. B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan. (PMID: 25279697) Praissman JL … Wells L (eLife 2014) 2 3 4 54
  3. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. (PMID: 25279699) Willer T … Campbell KP (eLife 2014) 2 3 4 54
  4. Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. (PMID: 23359570) Buysse K … van Bokhoven H (Human molecular genetics 2013) 3 4 54
  5. A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. (PMID: 23877401) Shaheen R … Alkuraya FS (Neurogenetics 2013) 3 4 54

ExternalLinks

View latest publications for B4GAT1 gene in Mastermind

Products for B4GAT1 Gene