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GNPTG - N-acetylglucosamine-1-phosphate transferase subunit gamma Gene

Also Known as RJD9; GNPTAG; LP2537; C16orf27

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84572

About GNPTG

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,351,931-1,364,113 (from NCBI)

This gene has 14 transcripts (splice variants), 180 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 53.6), kidney (RPKM 34.3) and 25 other tissues.

Summary

This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]

GNPTG Products (1)

mRNA	Protein	Name
NM_032520.5	NP_115909.1	N-acetylglucosamine-1-phosphotransferase subunit gamma precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26385638	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in carbohydrate phosphorylation	IDA IDA: Inferred from direct assay	19955174	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	27038293	GOA
part of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex	IPI IPI: Inferred from physical interaction	26385638	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GNPTG Protein Structure

PRKCSH_1

0
100
200
305 a.a.

Protein Preferred Names	Protein Names
N-acetylglucosamine-1-phosphotransferase subunit gamma	N-acetylglucosamine-1-phosphate transferase gamma subunit

GNPTG Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GNPTG	Q9UJJ9	GNPTAB	Homo sapiens	Q3T906	Anti Tag CoIP	26385638
Intra	GNPTG	Q9UJJ9	GNPTAB	Homo sapiens	Q3T906	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mucolipidosis Iii Gamma	Pseudo-Hurler Polydystrophy Mucolipidosis Type Iii Gamma Ml Iii Gamma Mucolipidosis Iiic Ml Iiic Mucolipidosis Type Iii Mucolipidosis Iii, Complementation Group C Mucolipidosis Iii, Iranian Variant Form Mucolipidosis Iii, Variant Form Mucolipidosis Iii Mucolipidosis Iii, Variant Ml 3 Gamma Mucolipidosis Type 3 Gamma Mucolipidosis Type Iii Complementation Group C MLIIIC Variant Pseudo-Hurler Polydystrophy Mucolipidosis, Type Iii, Gamma
Mucolipidosis
Mucolipidosis Iii Alpha/Beta	Pseudo-Hurler Polydystrophy Mucolipidosis Iii Ml Iii Alpha/Beta Mucolipidosis Iiia Ml Iiia Ml Iii Ml 3 A Ml3 Mucolipidosis Type 3a Mucolipidosis Iii, Variant Mucolipidosis Type Iii Alpha/Beta Ml 3 Alpha/Beta Mucolipidosis Type 3 Alpha/Beta Mucolipidosis Type 3 Mucolipidosis Type Iii Complementation Group A MLIIIA Cariant Pseudo-Hurler Polydystrophy Mucolipidosis, Type Iii Alpha/Beta Mucolipidosis, Type Iii, Alpha/Beta
Mucolipidoses
Mucolipidosis Ii Alpha/Beta	I-Cell Disease Mucolipidosis Type Ii Mucolipidosis Ii Icd Inclusion Cell Disease Inclusion-Cell Disease I Cell Disease Mucolipidosis 2 MLII Ml Ii Ml Ii Alpha/Beta Gnpta Leroy Disease Ml 2 Ml Disorder Type 2 N-Acetylglucosamine 1phosphotransferase Deficiency Mucolipidosis Type Ii Alpha/Beta N-Acetylglucosamine 1-Phosphotransferase Deficiency Deficiency Of N-Acetylglucosamine-1-Phosphotransferase Mucolipidosis, Type Ii, Alpha/Beta Ml2 Type Ii Mucolipidosis
Stuttering	Stammering Familial Persistent Stuttering Stuttering, Familial Persistent 1
Articulation Disorder	Phonological Disorder Articulation Disorders Articulation Impairment Speech Sound Disorders
Speech Disorder	Speech Disorders
Tarsal Tunnel Syndrome	Neuropathy Of The Posterior Tibial Nerve And Its Branches Posterior Tibial Nerve Neuralgia Compression Of Posterior Tibial Nerve In Tarsal Tunnel
Tibial Neuropathy	Posterior Tibial Neuropathy
Mannosidosis, Alpha B, Lysosomal	Alpha-Mannosidosis Lysosomal Alpha-D-Mannosidase Deficiency Deficiency Of Alpha-Mannosidase Alpha-Mannosidase B Deficiency Mannosidosis MANSA Mannosidosis, Alpha-, Types I And Ii Alpha-D-Mannosidosis Alpha-Mannosidase Deficiency Α-Mannosidosis Alpha Mannosidase B Deficiency Mannosidosis, Alpha B Lysosomal Lysosomal Alpha B Mannosidosis Alpha-Mannosidosis, Infantile Form Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form Alpha-Mannosidosis, Adult Form Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form Alpha-Mannosidosis Types I And Ii Mannosidase Deficiency Diseases
Dyslexia
Hurler Syndrome	Mucopolysaccharidosis Ih Mucopolysaccharidosis Type Ih Mps1-H MPS1H Hurler Disease Mpsih Mucopolysaccharidosis Type 1h Alpha-L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Hurler Disease Mps Type 1h Hurler-Pfaundler Syndrome L-Iduronidase Deficiency, Hurler Type Mucopolysaccharidosis Type I Severe Form Mucopolysaccharidosis 1h Hurler'S Syndrome Mps Ih Mps-Ih Pfaundler-Hurler Syndrome Mucopolysaccharidosis I
Dysostosis	Dysostoses
Gingival Hypertrophy	Hypertrophy Of Gingivae
Specific Language Impairment	Language Impairment, Specific
Scoliosis
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Cerebrooculofacioskeletal Syndrome 1	Cofs Syndrome COFS1 Pena-Shokeir Syndrome Type 2 Cofs Pena-Shokeir Syndrome, Type Ii Cerebrooculofacioskeletal Syndrome Cerebro-Oculo-Facio-Skeletal Syndrome 1 Pena Shokeir Syndrome Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05575	GNPTG Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GNPTG	MGD	MGI:2147006
Macaca mulatta	GNPTG	VGNC	VGNC:99511
Rattus norvegicus	GNPTG	RGD	RGD:1311614
Bos taurus	GNPTG	VGNC	VGNC:29480
Felis catus	GNPTG	VGNC	VGNC:62634
Canis familiaris	GNPTG	VGNC	VGNC:41335
Others	GNPTG	NCBI