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 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. 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 hematopoietic system; 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

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