2. Gene
  3. PRTFDC1 - phosphoribosyl transferase domain containing 1 Gene

PRTFDC1 - phosphoribosyl transferase domain containing 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference 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 Reference 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

Pribosyltran: Phosphoribosyl transferase domain (49 - 170)

  • 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 Reference
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%

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 Pre-designed Sets / 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