PRTFDC1 - phosphoribosyl transferase domain containing 1 Gene

Homo sapiens

Also known as HHGP

Gene ID: 56952 | Gene type: protein coding

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

PRTFDC1 Protein Structure

Pribosyltran

0
100
200
225 a.a.

Protein Preferred Names

Protein Names

phosphoribosyltransferase domain-containing protein 1

Recombinant PRTFDC1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77158	PRTFDC1 Protein, Human (His)	Q9NRG1 (M1-V225)	≥95%

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

Bioactive Molecules (1)

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

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