prps1a phosphoribosyl pyrophosphate synthetase 1A [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: prps1aprovided by ZNC
Official Full Name: phosphoribosyl pyrophosphate synthetase 1Aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-011212-5
See related: Ensembl:ENSDARG00000015524 AllianceGenome:ZFIN:ZDB-GENE-011212-5
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: cb96; prps1; zgc:55299; zgc:76932; wu:fa18f03; wu:fb33h12; wu:fd26g08
Summary: Predicted to enable 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 act upstream of or within nucleobase-containing small molecule metabolic process and phosphorylation. Predicted to be part of ribose phosphate diphosphokinase complex. Predicted to be active in cytoplasm. 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). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 5

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (23136512..23147665)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (22632736..22643865)

Chromosome 5 - NC_007116.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

mutations in PRPS1 result in phenotypic deficiencies in zebrafish similar to those in the associated human diseases.
Title: Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Markers

aa605744 (e-PCR)
- UniSTS:186892

fb33h12.x1 (e-PCR)
- UniSTS:203128

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables ribose phosphate diphosphokinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribose phosphate diphosphokinase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in 5-phosphoribose 1-diphosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in 5-phosphoribose 1-diphosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in actin filament bundle organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within nucleotide biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in purine nucleotide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ribonucleoside monophosphate biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
part_of ribose phosphate diphosphokinase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: ribose-phosphate pyrophosphokinase 1; ribose-phosphate pyrophosphokinase 1a

NP_998492.1

EC 2.7.6.1

NP_998698.1

EC 2.7.6.1

XP_005165149.1

EC 2.7.6.1

XP_009299554.1

EC 2.7.6.1

XP_009299555.1

EC 2.7.6.1

XP_021331665.1

EC 2.7.6.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001359894.1 → NP_001346823.1 ribose-phosphate pyrophosphokinase 1a isoform 3

Status: VALIDATED

Source sequence(s)

BX640539

UniProtKB/TrEMBL

A0A8M2BCA5, Q4KME9

Conserved Domains (1) summary

COG0462
Location:1 → 315

PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
NM_213327.2 → NP_998492.1 ribose-phosphate pyrophosphokinase 1a isoform 1

See identical proteins and their annotated locations for NP_998492.1

Status: VALIDATED

Source sequence(s)

BC066485, BX640539

UniProtKB/TrEMBL

A0A0R4IW25, A0A8M1PEZ5, Q6NYR9

Related

ENSDARP00000140447.2, ENSDART00000171039.2

Conserved Domains (3) summary

COG0462
Location:1 → 287

PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]

pfam13793
Location:4 → 120

Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

cl00309
Location:161 → 287

PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain
NM_213533.3 → NP_998698.1 ribose-phosphate pyrophosphokinase 1a isoform 2

See identical proteins and their annotated locations for NP_998698.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the coding region and has a distinct 3' terminal exon compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AI957867, BC066485, BX640539, CT644358, CT708525, EB884951

UniProtKB/TrEMBL

A0A8M1PJS0, Q7ZW39

Related

ENSDARP00000144425.1, ENSDART00000178821.2

Conserved Domains (3) summary

COG0462
Location:1 → 313

PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]

pfam13793
Location:4 → 120

Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

cl00309
Location:161 → 313

PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007116.7 Reference GRCz11 Primary Assembly

Range

23136512..23147665

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_009301279.3 → XP_009299554.1 ribose-phosphate pyrophosphokinase 1 isoform X1

UniProtKB/TrEMBL

A0A8M3B9F9

Conserved Domains (3) summary

COG0462
Location:1 → 318

PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]

pfam13793
Location:4 → 122

Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

cl00309
Location:163 → 318

PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain
XM_009301280.3 → XP_009299555.1 ribose-phosphate pyrophosphokinase 1 isoform X2

UniProtKB/TrEMBL

A0A8M3AS85

Conserved Domains (3) summary

COG0462
Location:1 → 316

PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]

pfam13793
Location:4 → 120

Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

cl00309
Location:161 → 316

PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain
XM_005165092.4 → XP_005165149.1 ribose-phosphate pyrophosphokinase 1 isoform X3

UniProtKB/TrEMBL

Q4KME9

Related

ENSDARP00000008663.8, ENSDART00000003428.10

Conserved Domains (1) summary

COG0462
Location:1 → 315

PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
XM_021475990.1 → XP_021331665.1 ribose-phosphate pyrophosphokinase 1 isoform X4

UniProtKB/TrEMBL

A0A8M9QDH9

Conserved Domains (1) summary

cl26081
Location:1 → 202

Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase