PPAT phosphoribosyl pyrophosphate amidotransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPATprovided by HGNC
Official Full Name: phosphoribosyl pyrophosphate amidotransferaseprovided by HGNC
Primary source: HGNC:HGNC:9238
See related: Ensembl:ENSG00000128059 MIM:172450; AllianceGenome:HGNC:9238
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: GPAT; PRAT; ATASE
Summary: The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]
Expression: Ubiquitous expression in testis (RPKM 6.9), lymph node (RPKM 5.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q12

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (56393362..56435615, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (59881364..59923605, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (57259528..57301781, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SHMT2 promotes the tumorigenesis of renal cell carcinoma by regulating the m6A modification of PPAT.
Title: SHMT2 promotes the tumorigenesis of renal cell carcinoma by regulating the m6A modification of PPAT.
Species-Specific Deamidation of RIG-I Reveals Collaborative Action between Viral and Cellular Deamidases in HSV-1 Lytic Replication.
Title: Species-Specific Deamidation of RIG-I Reveals Collaborative Action between Viral and Cellular Deamidases in HSV-1 Lytic Replication.
Phosphopantetheine Adenylyltransferase: A promising drug target to combat antibiotic resistance.
Title: Phosphopantetheine Adenylyltransferase: A promising drug target to combat antibiotic resistance.
The data indicate that amino acid/nucleotide metabolism-related genes OGDH, PPAT and PCCA acquire somatic mutations in microsatellite instability-high gastric cancers and colorectal cancers and that mutational intratumoral heterogeneity may occur in at least some of these tumors.
Title: Frameshift mutations of OGDH, PPAT and PCCA genes in gastric and colorectal cancers.
purine biosynthetic pathway enzymes PPAT and PAICS, as well as pyruvate kinase activity are increased in lung cancer
Title: Role and regulation of coordinately expressed de novo purine biosynthetic enzymes PPAT and PAICS in lung cancer.

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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

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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Markers

STS-U00239 (e-PCR)
- UniSTS:34349

RH70521 (e-PCR)
- UniSTS:86617

WI-20631 (e-PCR)
- UniSTS:23189

D4S3143 (e-PCR)
- UniSTS:69297

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables amidophosphoribosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' AMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in 'de novo' IMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in 'de novo' XMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in GMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in purine nucleobase biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in purine nucleotide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: amidophosphoribosyltransferase

Names: glutamine PRPP amidotransferase; glutamine phosphoribosylpyrophosphatate amidotransferase; glutamine phosphoribosylpyrophosphate amidotransferase

NP_002694.3

EC 2.4.2.14

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_002703.5 → NP_002694.3 amidophosphoribosyltransferase

See identical proteins and their annotated locations for NP_002694.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AB209246, BC004200, DB039655, U00238

Consensus CDS

CCDS3505.1

UniProtKB/Swiss-Prot

Q06203

UniProtKB/TrEMBL

A8K4H7, Q53H22

Related

ENSP00000264220.2, ENST00000264220.6

Conserved Domains (1) summary

COG0034
Location:8 → 515

PurF; Glutamine phosphoribosylpyrophosphate amidotransferase [Nucleotide transport and metabolism]

RNA

NR_156493.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC068620