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

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

Homo sapiens

Also known as ICD; GNPTA

Gene ID: 79158 | Gene type: protein coding

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

GNPTAB Protein Structure

Stealth_CR2

Stealth_CR2: Stealth protein CR2, conserved region 2 (322 - 426)

Notch

Notch: LNR domain (434 - 469)

Notch

Notch: LNR domain (502 - 535)

DMAP_binding

DMAP_binding: DMAP1-binding Domain (700 - 813)

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  • 1256 a.a.
Protein Preferred Names Protein Names

N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

GlcNAc phosphotransferase

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

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