PPAT phosphoribosyl pyrophosphate amidotransferase [Homo sapiens] - Gene

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Summary

Official Symbol: PPATprovided by HGNC
Official Full Name: phosphoribosyl pyrophosphate amidotransferaseprovided by HGNC
Primary source: HGNC:9238
See related: Ensembl:ENSG00000128059; HPRD:01402; MIM:172450; Vega:OTTHUMG00000128842
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]

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Genomic context

Location :: 4q12

Sequence :: Chromosome: 4; NC_000004.11 (57259528..57301802, complement)

See PPAT in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:111467	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

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
metal ion binding	IEA Inferred from Electronic Annotation more info
transferase activity, transferring glycosyl groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
glutamine metabolic process	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
nucleobase-containing small molecule metabolic process	TAS Traceable Author Statement more info
nucleoside metabolic process	IEA Inferred from Electronic Annotation more info
organ regeneration	IEA Inferred from Electronic Annotation more info
protein homotetramerization	IEA Inferred from Electronic Annotation more info
purine base biosynthetic process	IEA Inferred from Electronic Annotation more info
purine base metabolic process	TAS Traceable Author Statement more info
purine nucleotide biosynthetic process	IEA Inferred from Electronic Annotation more info
purine ribonucleoside monophosphate biosynthetic process	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytosol	TAS Traceable Author Statement more info
soluble fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: amidophosphoribosyltransferase

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

NP_002694.3

EC 2.4.2.14

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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)

NM_002703.4 → NP_002694.3 amidophosphoribosyltransferase proprotein

Status: REVIEWED

Source sequence(s)

AB209246, BC004200, DB039655, U00238

Consensus CDS

CCDS3505.1

UniProtKB/TrEMBL

A8K4H7

UniProtKB/Swiss-Prot

Q06203

UniProtKB/TrEMBL

Q59G63

Related

ENSP00000264220, OTTHUMP00000159062, ENST00000264220, OTTHUMT00000250781

Conserved Domains (3) summary

cd00715
Location:12 – 295
Blast Score: 902

GPATase_N; Glutamine amidotransferases class-II (GN-AT)_GPAT- type. This domain is found at the N-terminus of glutamine phosphoribosylpyrophosphate (Prpp) amidotransferase (GPATase) . The glutaminase domain catalyzes amide nitrogen transfer from glutamine to the ...

TIGR01134
Location:12 – 512
Blast Score: 1395

purF; amidophosphoribosyltransferase

cd06223
Location:306 – 442
Blast Score: 195

PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p5 Primary Assembly

Range

57259528..57301802, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

53213663..53255937, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC068620.5 (96866..139183)	None
genomic	CH471057.1	EAX05487.1
		EAX05488.1
genomic	U00239.1 (75..833)	None
mRNA	AB209246.1	BAD92483.1
mRNA	AK222759.1	BAD96479.1
mRNA	AK290942.1	BAF83631.1
mRNA	AK312297.1	BAG35224.1
mRNA	BC004200.2	AAH04200.1
mRNA	D13757.1	BAA02903.1
mRNA	DB039655.1	None
mRNA	U00238.1	AAC27345.1
other-genetic	DQ893484.2	ABM84410.1
other-genetic	DQ896410.2	ABM87409.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q06203.1	GenPept	UniProtKB/Swiss-Prot:Q06203
Q53H22	GenPept	UniProtKB/TrEMBL:Q53H22
Q59G63	GenPept	UniProtKB/TrEMBL:Q59G63