PRTFDC1 (phosphoribosyl transferase domain containing 1)

Gene

• Entrez ID: 56952
• Gene name: Phosphoribosyl transferase domain containing 1
• Gene symbol: PRTFDC1
• Synonyms (NCBI Gene): HHGP
• Chromosome: 10
• Chromosome location: 10p12.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 610751
• HGNC: 23333
• e!Ensembl: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL EDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	21818316		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	17599052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17303177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	17303177		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	17599052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	17599052		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	17303177		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	25456346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-Traumatic Stress Disorder	Stress Disorder	GWASCAT_DG	25456346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	28041643		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17599052		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	17599052		★☆☆☆☆ Found in Text Mining only