GenTIGS

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta (GNPTAB) Associated conditions: 1. Mucolipidosis type II 2. Mucopolysaccharidosis, MPS-III-A

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_024312.5	NP_077288.2	NC_000012.12	(101745498..101830958, complement)	Reference GRCh38.p14 Primary Assembly	Q3T906

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 176 reference articles

Variant Information N-acetylglucosamine-1-phosphate transferase subunits alpha and beta (GNPTAB) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene N-acetylglucosamine-1-phosphate transferase subunits alpha and beta (GNPTAB)

ClinVar variants:Revealing mutagenic patterns

GO Term of N-acetylglucosamine-1-phosphate transferase subunits alpha and beta (GNPTAB)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	located_in	Golgi membrane	Component	23733939 24375680
2	Homo sapiens	IBA	enables	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	Function	21873635
3	Homo sapiens	IDA	enables	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	Function	19955174 23733939 25788519
4	Homo sapiens	IMP	enables	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	Function	25505245
5	Homo sapiens	IEA	enables	calcium ion binding	Function	-
6	Homo sapiens	IPI	enables	protein binding	Function	25416956 26385638 28514442 36074821
7	Homo sapiens	IBA	is_active_in	Golgi apparatus	Component	21873635
8	Homo sapiens	IDA	located_in	Golgi apparatus	Component	21719679 25505245 25788519
9	Homo sapiens	IMP	involved_in	lysosome organization	Process	21719679
10	Homo sapiens	IBA	involved_in	N-glycan processing to lysosome	Process	21873635
11	Homo sapiens	IMP	involved_in	N-glycan processing to lysosome	Process	19938078 25505245
12	Homo sapiens	IEA	involved_in	secretion of lysosomal enzymes	Process	-
13	Homo sapiens	IBA	involved_in	carbohydrate phosphorylation	Process	21873635
14	Homo sapiens	IDA	involved_in	carbohydrate phosphorylation	Process	19955174 23733939