PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: PRPS1L1provided by HGNC
Official Full Name: phosphoribosyl pyrophosphate synthetase 1-like 1provided by HGNC
Primary source: HGNC:9463
Locus tag: hCG_1643027
See related: Ensembl:ENSG00000229937; HPRD:17914; MIM:611566; Vega:OTTHUMG00000152742
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PRPS1; PRPS3; PRPSL; PRS-III
Summary: This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 7p21.1

Sequence :: Chromosome: 7; NC_000007.13 (18066397..18067486, complement)

See PRPS1L1 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data indicate taht candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.
Title: Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
Translation initiates from a non-AUG (ACG) start codon.
Title: A human testis-specific mRNA for phosphoribosylpyrophosphate synthetase that initiates from a non-AUG codon.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:128758	BioGRID:120937	CAND1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:128758	BioGRID:116183	COPS5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:128758	BioGRID:115114	KIAA0101	BioGRID	PubMed	Affinity Capture-MS
BioGRID:128758	BioGRID:112872	TERF1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:128758	BioGRID:112873	TERF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:128758	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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5-Phosphoribose 1-diphosphate biosynthesis, organism-specific biosystem (from REACTOME)
5-Phosphoribose 1-diphosphate biosynthesis, organism-specific biosystem5-Phospho-alpha-D-ribose 1-diphosphate (PRPP) is a key intermediate in both the de novo and salvage pathways of purine and pyrimidine synthesis. PRPP and the enzymatic activity responsible for its s...
Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
Biosynthesis of amino acids, organism-specific biosystem
Biosynthesis of amino acids
Biosynthesis of amino acids, conserved biosystem (from KEGG)
Biosynthesis of amino acids, conserved biosystem
Biosynthesis of amino acids
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
PRPP biosynthesis I, organism-specific biosystem (from BIOCYC)
PRPP biosynthesis I, organism-specific biosystem
PRPP biosynthesis I
PRPP biosynthesis, ribose 5P => PRPP, organism-specific biosystem (from KEGG)
PRPP biosynthesis, ribose 5P => PRPP, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
PRPP biosynthesis, ribose 5P => PRPP, conserved biosystem (from KEGG)
PRPP biosynthesis, ribose 5P => PRPP, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Pentose phosphate pathway, organism-specific biosystem (from KEGG)
Pentose phosphate pathway, organism-specific biosystemThe pentose phosphate pathway is a process of glucose turnover that produces NADPH as reducing equivalents and pentoses as essential parts of nucleotides. There are two different phases in the pathwa...
Pentose phosphate pathway, conserved biosystem (from KEGG)
Pentose phosphate pathway, conserved biosystemThe pentose phosphate pathway is a process of glucose turnover that produces NADPH as reducing equivalents and pentoses as essential parts of nucleotides. There are two different phases in the pathwa...
Purine metabolism, organism-specific biosystem (from KEGG)
Purine metabolism, organism-specific biosystem
Purine metabolism
Purine metabolism, conserved biosystem (from KEGG)
Purine metabolism, conserved biosystem
Purine metabolism

General gene information

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Homology

Homologs of the PRPS1L1 gene: The PRPS1L1 gene is conserved in chimpanzee, Rhesus monkey, cow, mouse, and rat.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	ISS Inferred from Sequence or Structural Similarity more info
kinase activity	IEA Inferred from Electronic Annotation more info
magnesium ion binding	IEA Inferred from Electronic Annotation more info
protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
ribose phosphate diphosphokinase activity	ISS Inferred from Sequence or Structural Similarity more info
ribose phosphate diphosphokinase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
5-phosphoribose 1-diphosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
nucleotide biosynthetic process	IEA Inferred from Electronic Annotation more info
ribonucleoside monophosphate biosynthetic process	NAS Non-traceable Author Statement more info

Component	Evidence Code	Pubs
cellular_component	ND No biological Data available more info

General protein information

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Preferred Names: ribose-phosphate pyrophosphokinase 3

Names: ribose-phosphate pyrophosphokinase 3; PRPS1-like 1; ribose-phosphate pyrophosphokinase III; phosphoribosyl pyrophosphate synthase III; phosphoribosyl pyrophosphate synthase 1-like 1; phosphoribosylpyrophosphate synthetase subunit III; ribose-phosphate diphosphokinase catalytic chain III

NP_787082.1

EC 2.7.6.1

NCBI Reference Sequences (RefSeq)

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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_175886.2 → NP_787082.1 ribose-phosphate pyrophosphokinase 3

Status: REVIEWED

Source sequence(s)

M57423

Consensus CDS

CCDS47552.1

UniProtKB/Swiss-Prot

P21108

Related

ENSP00000424595, OTTHUMP00000202305, ENST00000506618, OTTHUMT00000327667

Conserved Domains (3) summary

PRK01259
Location:4 – 313
Blast Score: 1149

PRK01259; ribose-phosphate pyrophosphokinase; Provisional

pfam13793
Location:4 – 120
Blast Score: 540

Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

cd06223
Location:151 – 274
Blast Score: 208

PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p10 Primary Assembly

Range

18066397..18067486, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

17951884..17952968, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

18119717..18120801, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018918.1 Alternate CHM1_1.0

Range

18040669..18041758, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AACC02000008.1 (58543..59627)	None
genomic	ABBA01056647.1 (50833..51917)	None
genomic	AC080080.5 (103681..104770)	None
genomic	AMYH01017097.1 (800055..801144)	None
genomic	CH236948.1 (11626125..11627212)	None
genomic	CH471073.1	EAW93700.1
mRNA	BC005309.1	None
mRNA	BC062797.1	AAH62797.2
mRNA	M57423.1	AAB59463.1