We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
q22.3
Chromosome location (bp)
107628428 - 107651993
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of nucleotide metabolism Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287[magnesium ion binding] GO:0004749[ribose phosphate diphosphokinase activity] GO:0009165[nucleotide biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of nucleotide metabolism Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287[magnesium ion binding] GO:0004749[ribose phosphate diphosphokinase activity] GO:0009165[nucleotide biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of nucleotide metabolism Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287[magnesium ion binding] GO:0004749[ribose phosphate diphosphokinase activity] GO:0009165[nucleotide biosynthetic process]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of nucleotide metabolism Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of nucleotide metabolism Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287[magnesium ion binding] GO:0004749[ribose phosphate diphosphokinase activity] GO:0009165[nucleotide biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of nucleotide metabolism Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287[magnesium ion binding] GO:0004749[ribose phosphate diphosphokinase activity] GO:0009165[nucleotide biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of nucleotide metabolism Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287[magnesium ion binding] GO:0004749[ribose phosphate diphosphokinase activity] GO:0009165[nucleotide biosynthetic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of nucleotide metabolism Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287[magnesium ion binding] GO:0004749[ribose phosphate diphosphokinase activity] GO:0009165[nucleotide biosynthetic process]
The Human Protein Atlas project is funded
