PRTFDC1 phosphoribosyl transferase domain containing 1 [Homo sapiens] - Gene

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Summary

Official Symbol: PRTFDC1provided by HGNC
Official Full Name: phosphoribosyl transferase domain containing 1provided by HGNC
Primary source: HGNC:23333
See related: Ensembl:ENSG00000099256; HPRD:17917; MIM:610751; Vega:OTTHUMG00000017829
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HHGP; FLJ11888

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Genomic context

Location :: 10p12.1

Sequence :: Chromosome: 10; NC_000010.10 (25137554..25241533, complement)

See PRTFDC1 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 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?

These results demonstrate that PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
Title: PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
The PRTFDC1 structure has been determined at 1.7 A resolution with bound GMP. The overall structure and GMP binding mode are very similar to that observed for HPRT.
Title: Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
epigenetic silencing of PRTFDC1 by hypermethylation of the CpG island leads to a loss of PRTFDC1 function, which might be involved in squamous cell oral carcinogenesis.
Title: PRTFDC1, a possible tumor-suppressor gene, is frequently silenced in oral squamous-cell carcinomas by aberrant promoter hypermethylation.

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	Source	Pubs	Description
Phosphoribosyl transferase domain containing 1	O60941	DTNB	HPRD	PubMed
Phosphoribosyl transferase domain containing 1	Q01844	EWSR1	HPRD	PubMed
Phosphoribosyl transferase domain containing 1	Q96G04	FAM86A	HPRD	PubMed
Phosphoribosyl transferase domain containing 1	FAD synthetase	FLAD1	HPRD	PubMed
Phosphoribosyl transferase domain containing 1	P00492	HPRT1	HPRD	PubMed
Phosphoribosyl transferase domain containing 1	Q9GZT8	NIF3L1	HPRD	PubMed
Phosphoribosyl transferase domain containing 1	P42229	STAT5A	HPRD	PubMed
BioGRID:121276	BioGRID:108171	DTNB	BioGRID	PubMed	Two-hybrid
BioGRID:121276	BioGRID:108431	EWSR1	BioGRID	PubMed	Two-hybrid
BioGRID:121276	BioGRID:128213	FAM86A	BioGRID	PubMed	Two-hybrid
BioGRID:121276	BioGRID:123221	FLAD1	BioGRID	PubMed	Two-hybrid
BioGRID:121276	BioGRID:109488	HPRT1	BioGRID	PubMed	Two-hybrid
BioGRID:121276	BioGRID:121922	NIF3L1	BioGRID	PubMed	Two-hybrid
BioGRID:121276	BioGRID:112653	STAT5A	BioGRID	PubMed	Two-hybrid
BioGRID:121276	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
NOT hypoxanthine phosphoribosyltransferase activity	IDA Inferred from Direct Assay more info
magnesium ion binding	IBA Inferred from Biological aspect of Ancestor more info
magnesium ion binding	TAS Traceable Author Statement more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
NOT phosphoglucomutase activity	IRD Inferred from Rapid Divergence more info
protein homodimerization activity	IPI Inferred from Physical Interaction more info

Process	Evidence Code	Pubs
NOT GMP catabolic process	IDA Inferred from Direct Assay more info
GMP salvage	IBA Inferred from Biological aspect of Ancestor more info
IMP salvage	IBA Inferred from Biological aspect of Ancestor more info
adenine salvage	IBA Inferred from Biological aspect of Ancestor more info
central nervous system neuron development	IBA Inferred from Biological aspect of Ancestor more info
cerebral cortex neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
cytolysis	IBA Inferred from Biological aspect of Ancestor more info
dendrite morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
NOT glucose 1-phosphate metabolic process	IRD Inferred from Rapid Divergence more info
grooming behavior	IBA Inferred from Biological aspect of Ancestor more info
NOT guanine salvage	IDA Inferred from Direct Assay more info
hypoxanthine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
lymphocyte proliferation	IBA Inferred from Biological aspect of Ancestor more info
nucleoside metabolic process	IEA Inferred from Electronic Annotation more info
positive regulation of dopamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
purine ribonucleoside salvage	IBA Inferred from Biological aspect of Ancestor more info
response to amphetamine	IBA Inferred from Biological aspect of Ancestor more info
striatum development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Preferred Names: phosphoribosyltransferase domain-containing protein 1

Names: phosphoribosyltransferase domain-containing protein 1

NP_064585.1

EC 2.4.2.8

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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_020200.5 → NP_064585.1 phosphoribosyltransferase domain-containing protein 1

Status: PROVISIONAL

Source sequence(s)

AK021950

Consensus CDS

CCDS7145.1

UniProtKB/Swiss-Prot

Q9NRG1

Related

ENSP00000318602, OTTHUMP00000019330, ENST00000320152, OTTHUMT00000047243

Conserved Domains (1) summary

cd06223
Location:53 – 189
Blast Score: 183

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_000010.10 Reference GRCh37.p5 Primary Assembly

Range

25137554..25241533, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

24799013..24902637, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL157385.15	CAH70349.1
		CAH70350.1
genomic	AL512598.11	CAH70785.1
		CAH70786.1
genomic	CH471072.2	EAW86119.1
		EAW86120.1
		EAW86121.1
mRNA	AB209792.1	BAD93029.1
mRNA	AF226056.1	AAF86956.1
mRNA	AK021950.1	BAB13944.1
mRNA	AK222674.1	BAD96394.1
mRNA	AK294130.1	BAH11679.1
mRNA	AK309614.1	None
mRNA	BC008662.2	AAH08662.1
other-genetic	HQ447120.1	ADQ31607.1