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. Is expressed in several structures, including alar plate midbrain region; immature eye; nervous system; notochord; and yolk syncytial layer. 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. Orthologous to several human genes including PRPS1 (phosphoribosyl pyrophosphate synthetase 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 12 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb96 (15 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
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 |
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 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
prps1a-201
(1)
|
Havana | 2311 nt | |
mRNA |
prps1a-202
(1)
|
Havana | 1282 nt | |
mRNA |
prps1a-203
(1)
|
Ensembl | 1276 nt | |
mRNA |
prps1a-204
(1)
|
Ensembl | 2292 nt |
Interactions and Pathways
No data available
Plasmids
No data available