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

2014-01-01  

Identity

HGNC
LOCATION
12q23.2
LOCUSID
ALIAS
GNPTA,ICD
FUSION GENES

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

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
343415212021Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.3
343415212021Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.3
315799912020Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.3
321999822020Structures of Bacterial MraY and Human GPT Provide Insights into Rational Antibiotic Design.9
322200962020Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.1
325603732020Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?0
326514812020Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.3
315799912020Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.3
321999822020Structures of Bacterial MraY and Human GPT Provide Insights into Rational Antibiotic Design.9
322200962020Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.1
325603732020Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?0
326514812020Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.3
306555252019A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus.32
308829512019The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.26
310030072019Genetic factors and therapy outcomes in persistent developmental stuttering.5

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/favicon/js/lib/css/card-gene.css