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

13 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb96 (15 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 11 figures from 4 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

Human Disease	Fish	Conditions	Citations
X-linked deafness 1	AB + MO1-prps1a	control	DeSmidt et al., 2019
Charcot-Marie-Tooth disease X-linked recessive 5	prps1a^{la015591Tg/la015591Tg}	standard conditions	Pei et al., 2016
Charcot-Marie-Tooth disease X-linked recessive 5	prps1a^{la015591Tg/la015591Tg}	standard conditions	Pei et al., 2016

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 InterPro	320
UniProtKB:A0A8M3B9F9 InterPro	323
UniProtKB:Q6NYR9 InterPro	299
UniProtKB:A0A8M3AS85 InterPro	321
UniProtKB:Q7ZW39 InterPro	318
UniProtKB:A0A8M9QDH9 InterPro	207

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	prps1a-201 (1) Ensembl	Ensembl	2,311 nt	Select Tool
mRNA	prps1a-202 (1) Ensembl	Ensembl	1,282 nt	Select Tool
mRNA	prps1a-203 (1) Ensembl	Ensembl	1,276 nt	Select Tool ZFIN BLAST
mRNA	prps1a-204 (1) Ensembl	Ensembl	2,292 nt	Select Tool ZFIN BLAST

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