B4GALNT1 - beta-1,4-N-acetyl-galactosaminyltransferase 1 Gene

Also Known as GALGT; SPG26; GALNACT; GalNAc-T

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2583

About B4GALNT1

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,623,409-57,633,201 (from NCBI)

This gene has 16 transcripts (splice variants), 265 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in brain (RPKM 8.2), endometrium (RPKM 1.8) and 16 other tissues.

Summary

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]

B4GALNT1 Products (19)

mRNA Protein Name
NM_001276468.2 NP_001263397.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2 precursor
NM_001276469.2 NP_001263398.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 3 precursor
NM_001413967.1 NP_001400896.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 4 precursor
NM_001413968.1 NP_001400897.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 5 precursor
NM_001413969.1 NP_001400898.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 5 precursor
NM_001413970.1 NP_001400899.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6 precursor
NM_001413971.1 NP_001400900.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6 precursor
NM_001413972.1 NP_001400901.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6 precursor
NM_001413973.1 NP_001400902.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1 precursor
NM_001413974.1 NP_001400903.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1 precursor
NM_001413977.1 NP_001400906.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 7 precursor
NM_001413978.1 NP_001400907.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2 precursor
NM_001413979.1 NP_001400908.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 8 precursor
NM_001413980.1 NP_001400909.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 8 precursor
NM_001413981.1 NP_001400910.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 9
NM_001413982.1 NP_001400911.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 10
NM_001413983.1 NP_001400912.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 11
NM_001413984.1 NP_001400913.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 11
NM_001478.5 NP_001469.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity IDA
IDA: Inferred from direct assay
7487055 GOA
enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity IMP
IMP: Inferred from mutant phenotype
1601877 GOA
Biological Process GO Annotation Evidence References Source
involved in ganglioside biosynthetic process IDA
IDA: Inferred from direct assay
7487055 GOA
involved in ganglioside biosynthetic process IMP
IMP: Inferred from mutant phenotype
1601877 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

B4GALNT1 Protein Structure

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (281 - 420)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 533 a.a.
Protein Preferred Names Protein Names

beta-1,4 N-acetylgalactosaminyltransferase 1

  • GD2 synthase, GM2 synthase

B4GALNT1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84452 B4GALNT1 Antibody (YA4149) WB, IHC-P, FC, ELISA Human, Mouse, Monkey
HY-P84452A B4GALNT1 Antibody (YA4149)(PBS only) WB, IHC-P, FC, ELISA Human, Mouse, Monkey

Related Diseases

Diseases Alias
Spastic Paraplegia 26, Autosomal Recessive

  • SPG26

  • Hereditary Spastic Paraplegia 26

  • Autosomal Recessive Spastic Paraplegia Type 26

  • Gm2 Synthase Deficiency

  • Spastic Paraplegia 26

  • Autosomal Recessive Spastic Paraplegia 26

  • Paraplegia, Spastic, Autosomal Recessive, Type 26
Paraplegia

  • Paraplegia, Lower

  • Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Salt And Pepper Syndrome

  • Salt & Pepper Syndrome

  • Salt-And-Pepper Syndrome
Hereditary Spastic Paraplegia

  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia
Neuropathy, Hereditary Sensory And Autonomic, Type Ia

  • HSAN1A

  • Hsan Ia

  • Hsan1

  • Hsn Ia

  • Hereditary Sensory And Autonomic Neuropathy Type 1a

  • Neuropathy, Hereditary Sensory And Autonomic, Type 1a

  • Neuropathy, Hereditary Sensory, Type Ia

  • Hsn1a

  • Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a

  • Hereditary Sensory And Autonomic Neuropathy Type Ia

  • Neuropathy, Hereditary Sensory And Autonomic, 1a

  • Hereditary Sensory Neuropathy Type Ia

  • Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a

  • Hsn1

  • Neuropathy, Sensory And Autonomic, Hereditary, Type 1a

  • Hereditary Sensory Autonomic Neuropathy, Type 1
Developmental And Epileptic Encephalopathy 15

  • DEE15

  • Epileptic Encephalopathy, Early Infantile, 15

  • Eiee15

  • Developmental And Epileptic Encephalopathy, 15

  • Early Infantile Epileptic Encephalopathy 15

  • Encephalopathy, Epileptic, Early Infantile, Type 15

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • X-Linked Infantile Spasm Syndrome
Nephrotic Syndrome, Type 14

  • Sphingosine Phosphate Lyase Insufficiency Syndrome

  • Nephrotic Syndrome 14

  • NPHS14

  • Splis

  • Nephrotic Syndrome Type 14

  • Sgpl1 Deficiency

  • Steroid-Resistant Nephrotic Syndrome Type 14

  • Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency

  • Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
Neuronopathy, Distal Hereditary Motor, Type Va

  • Dsmav

  • Distal Hereditary Motor Neuropathy Type V

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

  • Neuronopathy, Distal Hereditary Motor, Type V

  • Distal Hereditary Motor Neuronopathy Type 5

  • Dhmn5

  • Distal Spinal Muscular Atrophy Type 5

  • HMN5A

  • Hmn5

  • Dhmn5a

  • Dhmn Va

  • Dsmava

  • Spinal Muscular Atrophy, Distal, With Upper Limb Predominance

  • Distal Hmn V

  • Autosomal Recessive Distal Spinal Muscular Atrophy Type 5

  • Dsma5

  • Young Adult-Onset Dhmn

  • Dhmn-V

  • Hmn V

  • Neuronopathy, Distal Hereditary Motor, Type 5a

  • Hmn 5a

  • Neuropathy, Distal Hereditary Motor, Type Va

  • Spinal Muscular Atrophy, Distal, Type Va

  • Spinal Muscular Atrophy, Distal, Type V

  • Distal Spinal Muscular Atrophy Type V

  • Distal Spinal Muscular Atrophy With Upper Limb Predominance

  • Distal Hereditary Motor Neuronopathy Type 5a

  • Distal Hmn Va

  • Distal Spinal Muscular Atrophy Type Va

  • Distal Hereditary Motor Neuropathy, Type V

  • Distal Hereditary Motor Neuronopathy, Type V

  • Distal Spinal Muscular Atrophy, Type V

  • Spinal Muscular Atrophy, Distal Type V

  • Distal Hereditary Motor Neuropathy Type 5

  • Neuronopathy, Distal Hereditary Motor, 5a

  • Dhmn V

  • Distal Hereditary Motor Neuronopathy Type Va

  • Distal Hereditary Motor Neuropathy Type Va

  • Dsma-V

  • Hmn Va

  • Spinal Muscular Atrophy Distal Type V

  • Spinal Muscular Atrophy Distal Type Va

  • Spinal Muscular Atrophy Distal With Upper Limb Predominance

  • Neuropathy, Distal Hereditary Motor, Type V

  • Neuropathy, Motor, Distal, Hereditary, Type Va
West Syndrome

  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01315 B4GALNT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta B4GALNT1 VGNC VGNC:70164
Rattus norvegicus B4GALNT1 RGD RGD:620490
Bos taurus B4GALNT1 VGNC VGNC:26385
Mus musculus B4GALNT1 MGD MGI:1342057
Canis familiaris B4GALNT1 VGNC VGNC:38345
Felis catus B4GALNT1 VGNC VGNC:60062
Others B4GALNT1 NCBI