Gene

prps1a

ID
ZDB-GENE-011212-5
Name
phosphoribosyl pyrophosphate synthetase 1A
Symbol
prps1a Nomenclature History
Previous Names
  • prps1
  • cb96 (1)
  • wu:fa18f03
  • wu:fb33h12
  • wu:fd26g08
  • zgc:55299
  • zgc:76932
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to have ATP binding activity and ribose phosphate diphosphokinase activity. Predicted to be involved in 5-phosphoribose 1-diphosphate biosynthetic process and purine nucleotide biosynthetic process. Predicted to localize to cytoplasm and ribose phosphate diphosphokinase complex. Used to study Charcot-Marie-Tooth disease X-linked recessive 5. Human ortholog(s) of this gene implicated in Arts syndrome; X-linked deafness 1; X-linked recessive disease (multiple); gout; and retinitis pigmentosa. Is expressed in several structures, including alar plate midbrain region; immature eye; nervous system; notochord; and yolk syncytial layer. Orthologous to several human genes including PRPS1 (phosphoribosyl pyrophosphate synthetase 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
12 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With prps1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Arts syndrome Alliance Arts syndrome 301835
Charcot-Marie-Tooth disease X-linked recessive 5 Alliance Charcot-Marie-Tooth disease, X-linked recessive, 5 311070
phosphoribosylpyrophosphate synthetase superactivity Alliance Gout, PRPS-related 300661
phosphoribosylpyrophosphate synthetase superactivity Alliance Phosphoribosylpyrophosphate synthetase superactivity 300661
X-linked deafness 1 Alliance Deafness, X-linked 1 304500
Associated With prps1a Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR000842 Phosphoribosyl pyrophosphate synthetase, conserved site
Domain IPR000836 Phosphoribosyltransferase domain
Domain IPR029099 Ribose-phosphate pyrophosphokinase, N-terminal domain
Family IPR005946 Ribose-phosphate pyrophosphokinase
Family IPR037515 Ribose-phosphate pyrophosphokinase, bacterial-type
Homologous_superfamily IPR029057 Phosphoribosyltransferase-like
Domain Details Per Protein
Protein Length Phosphoribosyl pyrophosphate synthetase, conserved site Phosphoribosyltransferase domain Phosphoribosyltransferase-like Ribose-phosphate pyrophosphokinase Ribose-phosphate pyrophosphokinase, bacterial-type Ribose-phosphate pyrophosphokinase, N-terminal domain
UniProtKB:Q4KME9 320
UniProtKB:A0A8M3B9F9 323
UniProtKB:Q6NYR9 299
UniProtKB:A0A8M3AS85 321
UniProtKB:Q7ZW39 318
UniProtKB:A0A8M9QDH9 207
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations