PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase)

2014-11-01  

Identity

HGNC
PHYKPL
LOCATION
5q35.3
LOCUSID
85007
ALIAS
AGXT2L2,PHLU
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 85007
MIM: 614683
HGNC: 28249
Ensembl: ENSG00000175309

Variants:

dbSNP: 85007
ClinVar: 85007
TCGA: ENSG00000175309
COSMIC: PHYKPL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175309ENST00000308158Q8IUZ5
ENSG00000175309ENST00000323594H7BXR0
ENSG00000175309ENST00000393488H7BYK2
ENSG00000175309ENST00000474052D6RCB8
ENSG00000175309ENST00000476170D6RAR0
ENSG00000175309ENST00000493197D6RD89
ENSG00000175309ENST00000506045H0YAK5
ENSG00000175309ENST00000510913H0Y9N3

Expression (GTEx)

0
10
20
30
40
50
60
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
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Lysine catabolismREACTOMER-HSA-71064
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

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
232425582013Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.0
232425582013Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.0
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71900/gene-fusions/new-content/meetings/