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

Summary

Official Symbol: PRPS1L1provided by HGNC
Official Full Name: phosphoribosyl pyrophosphate synthetase 1 like 1provided by HGNC
Primary source: HGNC:HGNC:9463
See related: Ensembl:ENSG00000229937 MIM:611566; AllianceGenome:HGNC:9463
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]
Orthologs: mouse all
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Genomic context

Location:: 7p21.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (18026770..18027846, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (18156457..18157533, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (18066393..18067469, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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

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 male gonad development	IEA Inferred from Electronic Annotation more info
involved_in purine nucleotide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribonucleoside monophosphate biosynthetic process	IEA Inferred from Electronic Annotation more info

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

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Preferred Names: ribose-phosphate pyrophosphokinase 3

Names: PRPS1-like 1; phosphoribosyl pyrophosphate synthase 1-like 1; phosphoribosyl pyrophosphate synthase III; phosphoribosylpyrophosphate synthetase subunit III; ribose-phosphate diphosphokinase catalytic chain III; ribose-phosphate pyrophosphokinase 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_175886.3 → NP_787082.1 ribose-phosphate pyrophosphokinase 3

See identical proteins and their annotated locations for NP_787082.1

Status: REVIEWED

Source sequence(s)

AC080080, M57423

Consensus CDS

CCDS47552.1

UniProtKB/Swiss-Prot

P21108, Q6P5P6

UniProtKB/TrEMBL

A0A0B4J207

Related

ENSP00000424595.3, ENST00000506618.5

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