Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1) Homo sapiens
Analyze
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 the 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:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381257,623,409 - 57,633,239 (-)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


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

CRRD Object Information
CRRD ID: 731293
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



NHLBI Logo

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