GNPTAB

GENE INFORMATION

? »

Gene name

GNPTAB (HGNC Symbol)

Synonyms

GNPTA, KIAA1208, MGC4170

Description

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (HGNC Symbol)

Entrez gene summary

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

Chromosome

12

Cytoband

q23.2

Chromosome location (bp)

102139275 - 102224716

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000111670 (version 75.37)

Entrez gene

79158

UniProt

Q3T906 (UniProt - Evidence at protein level)

neXtProt

NX_Q3T906

Antibodypedia

GNPTAB antibodies
 

PROTEIN VIEW

? »
 
 
 
GNPTAB-001
 
GNPTAB-002
 
GNPTAB-003
 
GNPTAB-004
 
GNPTAB-008
 
GNPTAB-009
 
GNPTAB-011
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GNPTAB-001 ENSP00000299314
ENST00000299314
Q3T906
Show all »
Show » Show » 1256 143.6 No 2
GNPTAB-002 ENSP00000376651
ENST00000392919
Q9BUA5
Show all »
Show » Show » 71 8.4 No 1
GNPTAB-003 ENSP00000449150
ENST00000549940
Q3T906
Show all »
Show » Show » 490 56 No 1
GNPTAB-004 ENSP00000449217
ENST00000552681
H0YIE6
Show all »
Show » 138 15.3 No 0
GNPTAB-008 ENSP00000450161
ENST00000549738
H0YIU2
Show all »
Show » 96 10.9 No 0
GNPTAB-009 ENSP00000450413
ENST00000549165
F8VQW2
Show all »
Show » Show » 68 8.1 No 1
GNPTAB-011 ENSP00000449557
ENST00000550718
H0YIU2
Show all »
Show » 117 13.2 No 0