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(8)

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
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

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 Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	17599052
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828 View all (31 more)	17303177
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114 View all (1830 more)	28041643

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Stress Disorder	Stress Disorder	GWAS
Hypertension	Hypertension	GWAS
Coronary artery disease	Coronary artery disease	GWAS
Insomnia	Insomnia	GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining
Lesch Nyhan Syndrome	Associate	21054786

PRTFDC1 (phosphoribosyl transferase domain containing 1)