GNPDA1 (glucosamine-6-phosphate deaminase 1)

2014-11-01  

Identity

HGNC
GNPDA1
LOCATION
5q31.3
LOCUSID
10007
ALIAS
GNP1,GNPDA,GNPI,GPI,HLN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10007
MIM: 601798
HGNC: 4417
Ensembl: ENSG00000113552

Variants:

dbSNP: 10007
ClinVar: 10007
TCGA: ENSG00000113552
COSMIC: GNPDA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113552ENST00000311337P46926
ENSG00000113552ENST00000500692P46926
ENSG00000113552ENST00000503229D6R917
ENSG00000113552ENST00000503794P46926
ENSG00000113552ENST00000504139D6RAY7
ENSG00000113552ENST00000504424D6RFK5
ENSG00000113552ENST00000505689D6RFF8
ENSG00000113552ENST00000508177P46926
ENSG00000113552ENST00000510194D6RB13
ENSG00000113552ENST00000513454D6R9P4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326

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
129652062003Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study.12
268873902016Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA enzymes in the maintenance of UDP-GlcNAc content and hyaluronan synthesis.10
218071252011Allosteric kinetics of the isoform 1 of human glucosamine-6-phosphate deaminase.7
126165322003Cloning and functional characterization of GNPI2, a novel human homolog of glucosamine-6-phosphate isomerase/oscillin.6

Citation

Dessen P

GNPDA1 (glucosamine-6-phosphate deaminase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63865/gnpda1