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

2014-01-01  

Identity

HGNC
GNPTAB
LOCATION
12q23.2
LOCUSID
79158
ALIAS
GNPTA,ICD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79158
MIM: 607840
HGNC: 29670
Ensembl: ENSG00000111670

Variants:

dbSNP: 79158
ClinVar: 79158
TCGA: ENSG00000111670
COSMIC: GNPTAB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111670ENST00000299314Q3T906
ENSG00000111670ENST00000392919Q9BUA5
ENSG00000111670ENST00000549165F8VQW2
ENSG00000111670ENST00000549738H0YIU2
ENSG00000111670ENST00000549940Q3T906
ENSG00000111670ENST00000550718H0YIK3
ENSG00000111670ENST00000552681H0YIE6

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
162000722005Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
164656212006Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.50
201477092010Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.48
161206022005The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA.43
196172162010Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.43
196172162010Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.43
191973372009Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.20
191973372009Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.20
166307362006When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.14

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53664/gnptab