2. Gene
  3. B4GALNT1 - beta-1,4-N-acetyl-galactosaminyltransferase 1 Gene

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 2583 | Gene type: protein coding

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 Reference 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 Reference 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)

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  • 533 a.a.
Protein Preferred Names Protein Names

beta-1,4 N-acetylgalactosaminyltransferase 1

GD2 synthase, GM2 synthase

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