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Gene: B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1) Homo sapiens
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Symbol: B4GALNT1
Name: beta-1,4-N-acetyl-galactosaminyltransferase 1
Description: Exhibits (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity. Involved in ganglioside biosynthetic process. Predicted to localize to Golgi membrane. Implicated in hereditary spastic paraplegia 26.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: (N-acetylneuraminyl)-galactosylglucosylceramide; beta-1,4 N-acetylgalactosaminyltransferase 1; beta-1,4-N-acetyl-galactosaminyl transferase 1; beta1,4GalNAc-T; beta1-4GalNAc-T; GALGT; GalNAc-T; GALNACT; GD2 synthase, GM2 synthase; GM2/GD2 synthase; spastic paraplegia 26; SPG26; UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1; UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)
Orthologs:
Mus musculus (house mouse) : B4galnt1 (beta-1,4-N-acetyl-galactosaminyl transferase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : B4galnt1 (beta-1,4-N-acetyl-galactosaminyl transferase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : B4galnt1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
Canis lupus familiaris (dog) : B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : B4galnt1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
Sus scrofa (pig) : B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
Chlorocebus sabaeus (African green monkey) : B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
Heterocephalus glaber (naked mole-rat) : B4galnt1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1257,623,409 - 57,633,239 (-)EnsemblGRCh38hg38GRCh38
GRCh381257,623,409 - 57,633,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371258,019,678 - 58,027,022 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,305,818 - 56,313,252 (-)NCBINCBI36hg18NCBI36
Build 341256,305,944 - 56,313,251NCBI
Celera1257,675,366 - 57,682,800 (-)NCBI
Cytogenetic Map12q13.3NCBI
HuRef1255,057,363 - 55,064,728 (-)NCBIHuRef
CHM1_11257,987,494 - 57,994,836 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on B4GALNT1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 731293
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.