B4GALNT1

GENERAL INFORMATION

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Gene name

B4GALNT1

Gene description

Beta-1,4-N-acetyl-galactosaminyl transferase 1

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus)

Protein evidence

Evidence at protein level

Protein localization

Selective expression of cells in the CNS and peripheral nerves.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA008968 , HPA015128
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex, hippocampus)

Organ

Expression



GENE INFORMATION

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Gene name

B4GALNT1 (HGNC Symbol)

Synonyms

beta1-4GalNAc-T, GALGT, SPG26

Description

Beta-1,4-N-acetyl-galactosaminyl transferase 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

12

Cytoband

q13.3

Chromosome location (bp)

57623410 - 57633355

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135454 (version 78.38)

Entrez gene

2583

UniProt

Q00973 (UniProt - Evidence at protein level)

neXtProt

NX_Q00973

Antibodypedia

B4GALNT1 antibodies


PROTEIN BROWSER

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ENST00000341156
 
ENST00000418555
 
ENST00000449184
 
ENST00000547741
 
ENST00000548888
 
ENST00000550764
 
ENST00000551220
 
ENST00000552350
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

B4GALNT1-002 ENSP00000341562
ENST00000341156
Q00973
Show all »
Show » Show » 533 58.9 Yes 0
B4GALNT1-003 ENSP00000473533
ENST00000449184
B4DSP5
Show all »
Show » Show » 304 33.1 Yes 0
B4GALNT1-004 ENSP00000450303
ENST00000550764
Q00973
Show all »
Show » Show » 328 35.5 Yes 0
B4GALNT1-005 ENSP00000448500
ENST00000552350
Q00973
Show all »
Show » Show » 328 35.5 Yes 0
B4GALNT1-006 ENSP00000401601
ENST00000418555
Q00973
Show all »
Show » Show » 478 52.9 Yes 0
B4GALNT1-010 ENSP00000446566
ENST00000551220
F8VR44
Show all »
Show » 120 13.1 Yes 0
B4GALNT1-014 ENSP00000447945
ENST00000548888
F8VU35
Show all »
Show » 237 25.5 Yes 0
B4GALNT1-016 ENSP00000448577
ENST00000547741
Show » 151 16.7 No 0