Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56952
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphoribosyl transferase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PRTFDC1
Synonyms (NCBI Gene) Gene synonyms aliases	HHGP
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p12.1

Show/Hide all(36)

miRTarBase ID	miRNA	Experiments
MIRT1268636	hsa-miR-1323	CLIP-seq
MIRT1268637	hsa-miR-548o	CLIP-seq
MIRT1268638	hsa-miR-943	CLIP-seq
MIRT2305206	hsa-miR-2355-5p	CLIP-seq
MIRT2305207	hsa-miR-3163	CLIP-seq
MIRT2305208	hsa-miR-889	CLIP-seq
MIRT2602265	hsa-miR-1207-3p	CLIP-seq
MIRT2602266	hsa-miR-1225-3p	CLIP-seq
MIRT2602267	hsa-miR-1272	CLIP-seq
MIRT2602268	hsa-miR-1322	CLIP-seq
MIRT2602269	hsa-miR-2277-3p	CLIP-seq
MIRT2602270	hsa-miR-3150a-5p	CLIP-seq
MIRT2602271	hsa-miR-3150b-5p	CLIP-seq
MIRT2602272	hsa-miR-335	CLIP-seq
MIRT2602273	hsa-miR-4438	CLIP-seq
MIRT2602274	hsa-miR-4517	CLIP-seq
MIRT2602275	hsa-miR-5095	CLIP-seq
MIRT2602276	hsa-miR-579	CLIP-seq
MIRT2602277	hsa-miR-656	CLIP-seq
MIRT2602265	hsa-miR-1207-3p	CLIP-seq
MIRT2602266	hsa-miR-1225-3p	CLIP-seq
MIRT2602267	hsa-miR-1272	CLIP-seq
MIRT2602268	hsa-miR-1322	CLIP-seq
MIRT2602269	hsa-miR-2277-3p	CLIP-seq
MIRT2688788	hsa-miR-3126-3p	CLIP-seq
MIRT2602270	hsa-miR-3150a-5p	CLIP-seq
MIRT2602271	hsa-miR-3150b-5p	CLIP-seq
MIRT2688789	hsa-miR-3192	CLIP-seq
MIRT2688790	hsa-miR-3199	CLIP-seq
MIRT2602272	hsa-miR-335	CLIP-seq
MIRT2688791	hsa-miR-4314	CLIP-seq
MIRT2602273	hsa-miR-4438	CLIP-seq
MIRT2602274	hsa-miR-4517	CLIP-seq
MIRT2688792	hsa-miR-4646-5p	CLIP-seq
MIRT2602275	hsa-miR-5095	CLIP-seq
MIRT2602277	hsa-miR-656	CLIP-seq

Show/Hide all(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	TAS	21054786
GO:0004422	Function	Hypoxanthine phosphoribosyltransferase activity	IDA	21054786
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25910212, 26871637, 31515488, 32296183, 33961781
GO:0005829	Component	Cytosol	IBA
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006178	Process	Guanine salvage	IDA	21054786
GO:0042803	Function	Protein homodimerization activity	IPI	21054786
GO:0046038	Process	GMP catabolic process	IDA	21054786
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
610751	23333	ENSG00000099256

Protein

UniProt ID

Q9NRG1

Protein name

Phosphoribosyltransferase domain-containing protein 1

Protein function

Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP salvage.

PDB

2JBH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00156	Pribosyltran	43 → 203	Phosphoribosyl transferase domain	Domain

Sequence

MAGSSEEAPDYGRGVVIMDDWPGYDLNLFTYPQHYYGDLEYVLIPHGIIVDRIERLAKDI
MKDIGYSDIMVLCVLKGGYKFCADLVEHLKNISRNSDRFVSMKVDFIRLKSYRNDQSMGE
MQIIGGDDLSTLAGKNVLIVEDVVGTGRTMKALLSNIEKYKPNMIKVASLLVKRTSRSDG
FRPDYAGFEIPNLFVVGYALDYNEYFRDLNHICVINEHGKEKYRV

Sequence length

225

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Hypertension	Ischemic stroke in hypertension, Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Stress Disorder	Post-traumatic stress disorder	N/A	N/A	GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Lesch Nyhan Syndrome	Associate	21054786

PRTFDC1 (phosphoribosyl transferase domain containing 1)