GNPTAB - N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Gene

Also Known as ICD; GNPTA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79158

About GNPTAB

Cytogenetic location: 12q23.2 Genomic coordinates (GRCh38): 12:101,745,499-101,830,959 (from NCBI)

This gene has 11 transcripts (splice variants), 219 orthologues and is associated with 5 phenotypes. Ubiquitous expression in colon (RPKM 16.4), lung (RPKM 13.5) and 25 other tissues.

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]

GNPTAB Products (1)

mRNA	Protein	Name
NM_024312.5	NP_077288.2	N-acetylglucosamine-1-phosphotransferase subunits alpha/beta precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IDA IDA: Inferred from direct assay	19955174	GOA
enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IMP IMP: Inferred from mutant phenotype	25505245	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in N-glycan processing to lysosome	IMP IMP: Inferred from mutant phenotype	19938078	GOA
involved in carbohydrate phosphorylation	IDA IDA: Inferred from direct assay	19955174	GOA
involved in lysosome organization	IMP IMP: Inferred from mutant phenotype	21719679	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	21719679	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	23733939	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

GNPTAB Protein Structure

Stealth_CR2

Notch

DMAP_binding

0
200
400
600
800
1000
1200
1256 a.a.

Protein Preferred Names	Protein Names
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta	GlcNAc phosphotransferase

GNPTAB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GNPTAB	Q3T906	ZNF250	Homo sapiens	P15622-3	Validated Y2H	25416956
Intra	GNPTAB	Q3T906	PSMA1	Homo sapiens	P25786	Y2H Prey Pooling	25416956
Intra	GNPTAB	Q3T906	GNPTG	Homo sapiens	Q9UJJ9	Anti Tag CoIP	26385638
Intra	GNPTAB	Q3T906	FAM90A1	Homo sapiens	Q86YD7	Y2H Prey Pooling	25416956
Intra	GNPTAB	Q3T906	FAM90A1	Homo sapiens	Q86YD7	Validated Y2H	25416956
Intra	GNPTAB	Q3T906	FAM90A1	Homo sapiens	Q86YD7	Y2H Array	25416956
Intra	GNPTAB	Q3T906	STAMBPL1	Homo sapiens	Q96FJ0	Y2H Prey Pooling	25416956
Intra	GNPTAB	Q3T906	STAMBPL1	Homo sapiens	Q96FJ0	Validated Y2H	25416956
Intra	GNPTAB	Q3T906	AEN	Homo sapiens	Q8WTP8	Y2H Prey Pooling	25416956
Intra	GNPTAB	Q3T906	AEN	Homo sapiens	Q8WTP8	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
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
Mucolipidosis
Mucolipidoses
Gnptab-Related Disorders
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Scheuermann Disease	Scheuermann'S Disease Spinal Osteochondrosis Juvenile Osteochondrosis Of Spine Familial Scheuermann Disease Familial Scheuermann Juvenile Kyphosis Familial Spinal Osteochondrosis Scheuermann Juvenile Kyphosis Juvenile Osteochondritis Of The Spine Juvenile Osteochondrosis Of Scheurermann Scheuermann'S Kyphosis Sherman'S Disease Juvenile Kyphosis Scheuermann Kyphosis [X]Spinal Osteochondrosis, Unspecified
Legg-Calve-Perthes Disease	Perthes Disease LCPD Coxa Plana Legg-Perthes Disease Juvenile Osteochondrosis Of Hip And Pelvis Pseudocoxalgia Legg-Calvé-Perthes Disease Lcp Calve - Perthes' Disease Juvenile Osteochond-Hip/Pelvis Juvenile Osteochondrosis Of Hip And/Or Pelvis Legg-Calve-Perthes Symptom Osteochondrosis Of Legg-Calve-Perthes Perthe'S Disease Legg-Calve-Perthes Syndrome Osteochondritis Deformans Calve-Perthes Disease Aseptic Necrosis Of The Capital Femoral Epiphysis Osteochondrosis Of The Capital Femoral Epiphysis Legg-Calvé-Perthes Syndrome Avascular Necrosis Of The Capital Femoral Epiphysis
Stuttering	Stammering Familial Persistent Stuttering Stuttering, Familial Persistent 1
Chronic Rheumatic Pericarditis	Chronic Rheumatic Mediastinopericarditis Chronic Rheumatic Myopericarditis Inactive Or Quiescent Rheumatic Fever In Pericarditis Pericarditis With Inactive Or Quiescent Rheumatic Fever
Endometriosis Of Pelvic Peritoneum
Disseminated Chorioretinitis
Fungal Gastritis
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
Speech Disorder	Speech Disorders
Articulation Disorder	Phonological Disorder Articulation Disorders Articulation Impairment Speech Sound Disorders
46,Xy Sex Reversal 7	SRXY7 46,Xy Sex Reversal, Partial Or Complete, Dhh-Related 46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related Gdxym Gonadal Dysgenesis, Xy, Male-Limited 46xy Sex Reversal 7 Gonadal Dysgenesis, Xy, Male Limited Complete Pure Gonadal Dysgenesis 46,Xy Type Male-Limited Gonadal Dysgenesis 46,Xy 46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related
Her2-Receptor Positive Breast Cancer
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
Charcot-Marie-Tooth Disease, Axonal, Type 2v	CMT2V Charcot-Marie-Tooth Disease Axonal Type 2v Charcot-Marie-Tooth Neuropathy, Type 2v Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2v Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2v Charcot-Marie-Tooth Neuropathy Type 2v Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Naglu Mutation Hereditary Adult-Onset Painful Axonal Polyneuropathy Charcot-Marie-Tooth Disease 2v
Alcoholic Gastritis	Alcoholic Gastritis, With Hemorrhage Alcoholic Gastritis, Without Mention Of Hemorrhage Alcohol Gastritis Etoh Gastritis
Gingival Hypertrophy	Hypertrophy Of Gingivae
Acute Laryngitis	Acute Laryngitis Nos Laryngeal Inflammation Laryngitis Nos Larynx Inflammation
Tarsal Tunnel Syndrome	Neuropathy Of The Posterior Tibial Nerve And Its Branches Posterior Tibial Nerve Neuralgia Compression Of Posterior Tibial Nerve In Tarsal Tunnel
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
Tibial Neuropathy	Posterior Tibial Neuropathy
Vitamin D Hydroxylation-Deficient Rickets, Type 1b	VDDR1B Vitamin D-Dependent Rickets Type 1b Vitamin D-Dependent Rickets, Type 1b 25-Hydroxyvitamin D3 Deficiency, Selective Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency Rickets Due To Defect In Vitamin D 25-Hydroxylation Deficiency Rickets Vitamin D-Dependent 1b 25-Hydroxyvitamimn D3 Deficiency Selective 25-Hydroxyvitamin D(3) Deficiency Pseudovitamin D(3) Deficiency Rickets Due To 25-Hydroxylase Deficiency Selective 25-Hydroxyvitamin D(3) Deficiency Rickets Due To Defect In Vitamin D 25-Hydroxylation
Cornelia De Lange Syndrome 1	De Lange Syndrome CDLS1 Cdl Cdls Typus Degenerativus Amstelodamensis Brachmann-De Lange Syndrome Bdls Amstelodamensis Typus Degenerativus Cornelia De Lange Syndrome, Type 1
Specific Language Impairment	Language Impairment, Specific
Deficiency Anemia	Anemia Deficiency Anemias Anaemia

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70305	GlcNAc-1-Phosphotransferase		/	Unkown
HY-RS05574	GNPTAB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GNPTAB	VGNC	VGNC:41334
Rattus norvegicus	GNPTAB	RGD	RGD:1564821
Felis catus	GNPTAB	VGNC	VGNC:62633
Mus musculus	GNPTAB	MGD	MGI:3643902
Bos taurus	GNPTAB	VGNC	VGNC:29479
Macaca mulatta	GNPTAB	VGNC	VGNC:73036
Others	GNPTAB	NCBI