2. Gene
  3. GNPTG - N-acetylglucosamine-1-phosphate transferase subunit gamma Gene

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as RJD9; GNPTAG; LP2537; C16orf27

Gene ID: 84572 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
26385638 GOA
Biological Process GO Annotation Evidence Reference Source
involved in carbohydrate phosphorylation IDA
IDA: Inferred from direct assay
19955174 GOA
Cellular Component GO Annotation Evidence Reference 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

PRKCSH_1: Glucosidase II beta subunit-like protein (64 - 173)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05575 GNPTG Human Pre-designed siRNA Set A Pre-designed Sets / 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