PRPS1L1 (phosphoribosyl pyrophosphate synthetase 1 like 1)

2014-11-01  

Identity

HGNC
PRPS1L1
LOCATION
7p21.1
LOCUSID
221823
ALIAS
PRPS1,PRPS3,PRPSL,PRS-III

Other Information

Locus ID:

NCBI: 221823
MIM: 611566
HGNC: 9463
Ensembl: ENSG00000229937

Variants:

dbSNP: 221823
ClinVar: 221823
TCGA: ENSG00000229937
COSMIC: PRPS1L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000229937ENST00000506618A0A0B4J207

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Pentose phosphate pathwayKEGGko00030
Purine metabolismKEGGko00230
Pentose phosphate pathwayKEGGhsa00030
Purine metabolismKEGGhsa00230
Metabolic pathwaysKEGGhsa01100
PRPP biosynthesis, ribose 5P => PRPPKEGGhsa_M00005
PRPP biosynthesis, ribose 5P => PRPPKEGGM00005
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
5-Phosphoribose 1-diphosphate biosynthesisREACTOMER-HSA-73843

References

Pubmed IDYearTitleCitations
21688921990A human testis-specific mRNA for phosphoribosylpyrophosphate synthetase that initiates from a non-AUG codon.12
217344012011Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.1

Citation

Dessen P

PRPS1L1 (phosphoribosyl pyrophosphate synthetase 1 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72255/prps1l1