Gene

prps1b

ID

ZDB-GENE-030131-4011

Name

phosphoribosyl pyrophosphate synthetase 1B

Symbol

prps1b Nomenclature History

Previous Names

fc64g03
im:6909503
wu:fc64g03
zgc:153331

Type

protein_coding_gene

Location

Chr: 14 Mapping Details/Browsers

Description

Predicted to enable ribose phosphate diphosphokinase activity. Acts upstream of or within inner ear development. Predicted to be part of ribose phosphate diphosphokinase complex. Predicted to be active in cytoplasm. Is expressed in several structures, including brain; caudal hematopoietic tissue; eye; semicircular canal; and yolk syncytial layer. Used to study X-linked deafness 1. 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 human PRPS1 (phosphoribosyl pyrophosphate synthetase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 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

IMAGE:6909503 (1 image)
IMAGE:7160487 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With prps1b 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 prps1b Via Experimental Models

Human Disease	Fish	Conditions	Citations
X-linked deafness 1	AB + MO1-prps1b	control	DeSmidt et al., 2019

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