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PRTFDC1 - phosphoribosyl transferase domain containing 1 Gene

Also Known as HHGP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56952

About PRTFDC1

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:24,848,614-24,952,606 (from NCBI)

This gene has 3 transcripts (splice variants), 315 orthologues and 6 paralogues. Ubiquitous expression in brain (RPKM 14.5), adrenal (RPKM 9.7) and 21 other tissues.

Summary

Enables protein homodimerization activity. Predicted to be involved in purine ribonucleoside salvage. [provided by Alliance of Genome Resources, Apr 2022]

PRTFDC1 Products (2)

mRNA	Protein	Name
NM_001282786.2	NP_001269715.1	phosphoribosyltransferase domain-containing protein 1 isoform 2
NM_020200.7	NP_064585.1	phosphoribosyltransferase domain-containing protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
NOT enables hypoxanthine phosphoribosyltransferase activity	IDA IDA: Inferred from direct assay	21054786	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	21054786	GOA

Biological Process GO Annotation	Evidence	References	Source
NOT involved in GMP catabolic process	IDA IDA: Inferred from direct assay	21054786	GOA
NOT involved in guanine salvage	IDA IDA: Inferred from direct assay	21054786	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRTFDC1 Protein Structure

Pribosyltran

0
100
200
225 a.a.

Protein Preferred Names	Protein Names
phosphoribosyltransferase domain-containing protein 1

PRTFDC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PRTFDC1	Q9NRG1	LGALS9B	Homo sapiens	Q3B8N2	Validated Y2H	25416956
Intra	PRTFDC1	Q9NRG1	LGALS9B	Homo sapiens	Q3B8N2	Y2H Array	25416956
Intra	PRTFDC1	Q9NRG1	LGALS9B	Homo sapiens	Q3B8N2	Y2H Prey Pooling	25416956
Intra	PRTFDC1	Q9NRG1	EPM2AIP1	Homo sapiens	Q7L775	Y2H Array	25416956
Intra	PRTFDC1	Q9NRG1	EPM2AIP1	Homo sapiens	Q7L775	Y2H Prey Pooling	25416956
Intra	PRTFDC1	Q9NRG1	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183
Intra	PRTFDC1	Q9NRG1	EEF2KMT	Homo sapiens	Q96G04	Validated Y2H	25416956
Intra	PRTFDC1	Q9NRG1	EEF2KMT	Homo sapiens	Q96G04	Y2H Pooling	16189514
Intra	PRTFDC1	Q9NRG1	EEF2KMT	Homo sapiens	Q96G04	Y2H Array	31515488
Intra	PRTFDC1	Q9NRG1	HPRT1	Homo sapiens	P00492	Y2H Array	25416956
Intra	PRTFDC1	Q9NRG1	HPRT1	Homo sapiens	P00492	Y2H Array	31515488
Intra	PRTFDC1	Q9NRG1	HPRT1	Homo sapiens	P00492	Validated Y2H	25416956
Intra	PRTFDC1	Q9NRG1	GNPDA1	Homo sapiens	P46926	Y2H Prey Pooling	25416956
Intra	PRTFDC1	Q9NRG1	GNPDA1	Homo sapiens	P46926	Validated Y2H	25416956
Intra	PRTFDC1	Q9NRG1	MCMBP	Homo sapiens	Q9BTE3	Y2H Prey Pooling	25416956
Intra	PRTFDC1	Q9NRG1	MCMBP	Homo sapiens	Q9BTE3	Validated Y2H	25416956
Intra	PRTFDC1	Q9NRG1	MCMBP	Homo sapiens	Q9BTE3	Y2H Array	25416956
Intra	PRTFDC1	Q9NRG1	TCL1A	Homo sapiens	P56279	Y2H Array	25416956
Intra	PRTFDC1	Q9NRG1	TCL1A	Homo sapiens	P56279	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PRTFDC1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77158	PRTFDC1 Protein, Human (His)	Q9NRG1-1 (M1-V225)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Acute Laryngitis	Acute Laryngitis Nos Laryngeal Inflammation Laryngitis Nos Larynx Inflammation
Lesch-Nyhan Syndrome	Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency LNS Hprt Deficiency Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency X-Linked Hyperuricemia Choreoathetosis Self-Mutilation Syndrome Hprt1 Deficiency Hprt Deficiency, Complete Deficiency Of Imp Pyrophosphorylase Hgprt Deficiency Lesch-Nyhan Disease Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hg-Prt Deficiency Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency Lesch - Nyhan Syndrome Hprt1 Disorders Lesch Nyhan Syndrome Complete Hprt Deficiency Complete Lesch Nyhan Disease Complete Hprt Deficiency Deficiency Of Guanine Phosphoribosyltransferase Deficiency Of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiency Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Lnd Primary Hyperuricemia Syndrome Total Hprt Deficiency Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency X-Linked Primary Hyperuricemia X-Linked Uric Aciduria Enzyme Defect Hprt Complete Deficiency Hprt Deficiency Grade Iv Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Dissociative Amnesia	Psychogenic Amnesia Amnesia, Dissociative Amnesia, Psychogenic Amnesia Neurosis Hysterical Fugue Dissociative Fugue

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11260	PRTFDC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26722	Prtfdc1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PRTFDC1	VGNC	VGNC:45075
Macaca mulatta	PRTFDC1	VGNC	VGNC:76303
Rattus norvegicus	PRTFDC1	RGD	RGD:1310177
Felis catus	PRTFDC1	VGNC	VGNC:64404
Others	PRTFDC1	NCBI