NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase)

2014-11-01  

Identity

HGNC
NAGPA
LOCATION
16p13.3
LOCUSID
51172
ALIAS
APAA,UCE

Other Information

Locus ID:

NCBI: 51172
MIM: 607985
HGNC: 17378
Ensembl: ENSG00000103174

Variants:

dbSNP: 51172
ClinVar: 51172
TCGA: ENSG00000103174
COSMIC: NAGPA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103174ENST00000312251Q9UK23
ENSG00000103174ENST00000381955Q9UK23
ENSG00000103174ENST00000562037K7EJ25
ENSG00000103174ENST00000562346K7ERI4
ENSG00000103174ENST00000562746Q9UK23
ENSG00000103174ENST00000563578K7EPH3
ENSG00000103174ENST00000565876K7EK96
ENSG00000103174ENST00000569296K7EL75
ENSG00000103174ENST00000649828Q9UK23

Expression (GTEx)

0
5
10
15
20
25
30
35
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
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 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
201477092010Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.48
120580312002Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin.19
219561092011Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.7
228849632012A role for inherited metabolic deficits in persistent developmental stuttering.6
159764522005Characterization of the TGN exit signal of the human mannose 6-phosphate uncovering enzyme.3
235725272013Structure and function of the DUF2233 domain in bacteria and in the human mannose 6-phosphate uncovering enzyme.3
256437702015Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.2
292896112018Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.2

Citation

Dessen P

NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70675/nagpa