NPL (N-acetylneuraminate pyruvate lyase)

2014-11-01  

Identity

HGNC
NPL
LOCATION
1q25.3
LOCUSID
80896
ALIAS
C112,C1orf13,NAL,NPL1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80896
MIM: 611412
HGNC: 16781
Ensembl: ENSG00000135838

Variants:

dbSNP: 80896
ClinVar: 80896
TCGA: ENSG00000135838
COSMIC: NPL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135838ENST00000258317Q9BXD5
ENSG00000135838ENST00000367552Q9BXD5
ENSG00000135838ENST00000367553Q9BXD5
ENSG00000135838ENST00000367554Q9BXD5
ENSG00000135838ENST00000367555Q9BXD5
ENSG00000135838ENST00000614468A0A087WZ70

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Sialic acid metabolismREACTOMER-HSA-4085001

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
testis
epididymis
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
190579312009Homology modeling and molecular dynamics study on N-acetylneuraminate lyase.4
190579312009Homology modeling and molecular dynamics study on N-acetylneuraminate lyase.4
161478652005A novel splice variant of human gene NPL, mainly expressed in human liver, kidney and peripheral blood leukocyte.3
161478652005A novel splice variant of human gene NPL, mainly expressed in human liver, kidney and peripheral blood leukocyte.3

Citation

Dessen P

NPL (N-acetylneuraminate pyruvate lyase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70944