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PPAT phosphoribosyl pyrophosphate amidotransferase [ Homo sapiens (human) ]

Gene ID: 5471, updated on 3-May-2020

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
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

Genomic context

See PPAT in Genome Data Viewer
Location:
4q12
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (56393362..56435615, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57259528..57301802, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 162 Neighboring gene aminoadipate-semialdehyde dehydrogenase Neighboring gene ribosomal protein L7a pseudogene 31 Neighboring gene uncharacterized LOC100506514 Neighboring gene phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase Neighboring gene signal recognition particle 72

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
amidophosphoribosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
'de novo' IMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
cellular response to drug IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
glutamine catabolic process IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
lactation IEA
Inferred from Electronic Annotation
more info
 
maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
 
nucleoside metabolic process IEA
Inferred from Electronic Annotation
more info
 
purine nucleobase biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
purine nucleotide biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
purine ribonucleoside monophosphate biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
amidophosphoribosyltransferase
Names
glutamine PRPP amidotransferase
glutamine phosphoribosylpyrophosphatate amidotransferase
glutamine phosphoribosylpyrophosphate amidotransferase
NP_002694.3

NCBI Reference Sequences (RefSeq)

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)

  1. NM_002703.5NP_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, Q59G63
    Related
    ENSP00000264220.2, ENST00000264220.6
    Conserved Domains (1) summary
    COG0034
    Location:8515
    PurF; Glutamine phosphoribosylpyrophosphate amidotransferase [Nucleotide transport and metabolism]

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    56393362..56435615 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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