Entity Details

Primary name B4GN1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ00973
EntryNameB4GN1_HUMAN
FullNameBeta-1,4 N-acetylgalactosaminyltransferase 1
TaxID9606
Evidenceevidence at protein level
Length533
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesB4GALNT1

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001574 ganglioside biosynthetic process
GO:0003947 (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005975 carbohydrate metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0007283 spermatogenesis
GO:0008376 acetylgalactosaminyltransferase activity
GO:0016020 membrane
GO:0019915 lipid storage
GO:0030173 integral component of Golgi membrane
GO:0030259 lipid glycosylation

Subcellular Location

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Subcellular Location
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR001173 Glycosyltransferase 2-likeDomainDomain
IPR011143 Ganglioside GM2 synthaseFamilyFamily
IPR029044 Nucleotide-diphospho-sugar transferasesFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
609195 OMIMSpastic paraplegia 26, autosomal recessive (SPG26)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
B4GN1_HUMANB4GN1_HUMANBioGRID, HPRD11018043 details