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Aliases for PRTFDC1 Gene

Aliases for PRTFDC1 Gene

  • Phosphoribosyl Transferase Domain Containing 1 2 3
  • HHGP 3 4
  • Phosphoribosyltransferase Domain-Containing Protein 1 3
  • EC 63
  • EC 2.4.2 63

External Ids for PRTFDC1 Gene

Previous GeneCards Identifiers for PRTFDC1 Gene

  • GC10M025141
  • GC10M025177

Summaries for PRTFDC1 Gene

GeneCards Summary for PRTFDC1 Gene

PRTFDC1 (Phosphoribosyl Transferase Domain Containing 1) is a Protein Coding gene. Diseases associated with PRTFDC1 include lesch-nyhan syndrome. GO annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is HPRT1.

UniProtKB/Swiss-Prot for PRTFDC1 Gene

  • 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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRTFDC1 Gene

Genomics for PRTFDC1 Gene

Regulatory Elements for PRTFDC1 Gene

Genomic Location for PRTFDC1 Gene

24,848,607 bp from pter
24,953,782 bp from pter
105,176 bases
Minus strand

Genomic View for PRTFDC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRTFDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRTFDC1 Gene

Proteins for PRTFDC1 Gene

  • Protein details for PRTFDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphoribosyltransferase domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B7Z1Z3
    • Q53HA7
    • Q59EL9
    • Q5VV18
    • Q5VV20

    Protein attributes for PRTFDC1 Gene

    225 amino acids
    Molecular mass:
    25674 Da
    Quaternary structure:
    • Homodimer.
    • Sequence=BAD93029.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PRTFDC1 Gene

    Alternative splice isoforms for PRTFDC1 Gene


neXtProt entry for PRTFDC1 Gene

Proteomics data for PRTFDC1 Gene at MOPED

Selected DME Specific Peptides for PRTFDC1 Gene

Post-translational modifications for PRTFDC1 Gene

  • Ubiquitination at Lys173
  • Modification sites at PhosphoSitePlus

Other Protein References for PRTFDC1 Gene

Antibody Products

Domains for PRTFDC1 Gene

Protein Domains for PRTFDC1 Gene

Suggested Antigen Peptide Sequences for PRTFDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q9NRG1
  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.
genes like me logo Genes that share domains with PRTFDC1: view

No data available for Gene Families for PRTFDC1 Gene

Function for PRTFDC1 Gene

Molecular function for PRTFDC1 Gene

UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for PRTFDC1 Gene

Gene Ontology (GO) - Molecular Function for PRTFDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding TAS 21054786
GO:0004422 NOT hypoxanthine phosphoribosyltransferase activity IDA 21054786
GO:0005515 protein binding IPI 16189514
GO:0042803 protein homodimerization activity IPI 21054786
genes like me logo Genes that share ontologies with PRTFDC1: view

Phenotypes for PRTFDC1 Gene

GenomeRNAi human phenotypes for PRTFDC1:
genes like me logo Genes that share phenotypes with PRTFDC1: view

Animal Model Products

CRISPR Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PRTFDC1 Gene

Localization for PRTFDC1 Gene

Subcellular locations from

Jensen Localization Image for PRTFDC1 Gene COMPARTMENTS Subcellular localization image for PRTFDC1 gene
Compartment Confidence
cytosol 3
nucleus 2
peroxisome 2
cytoskeleton 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PRTFDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol IBA --
genes like me logo Genes that share ontologies with PRTFDC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PRTFDC1 Gene

Pathways for PRTFDC1 Gene

SuperPathways for PRTFDC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRTFDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006166 NOT purine ribonucleoside salvage IBA --
GO:0006168 NOT adenine salvage IBA --
GO:0006178 NOT guanine salvage IDA 21054786
GO:0009116 nucleoside metabolic process --
GO:0032263 NOT GMP salvage IBA --
genes like me logo Genes that share ontologies with PRTFDC1: view

No data available for Pathways by source for PRTFDC1 Gene

Transcripts for PRTFDC1 Gene

Unigene Clusters for PRTFDC1 Gene

Phosphoribosyl transferase domain containing 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRTFDC1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRTFDC1 Gene

No ASD Table

Relevant External Links for PRTFDC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRTFDC1 Gene

mRNA expression in normal human tissues for PRTFDC1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRTFDC1 Gene

SOURCE GeneReport for Unigene cluster for PRTFDC1 Gene Hs.405619

genes like me logo Genes that share expressions with PRTFDC1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRTFDC1 Gene

Orthologs for PRTFDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRTFDC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PRTFDC1 35
  • 99.41 (n)
  • 100 (a)
  • 100 (a)
(Bos Taurus)
Mammalia PRTFDC1 35
  • 89.48 (n)
  • 90.67 (a)
  • 72 (a)
(Canis familiaris)
Mammalia PRTFDC1 35
  • 90.71 (n)
  • 93.27 (a)
  • 88 (a)
(Monodelphis domestica)
Mammalia PRTFDC1 36
  • 87 (a)
(Rattus norvegicus)
Mammalia Prtfdc1 35
  • 86.37 (n)
  • 91.56 (a)
(Gallus gallus)
Aves PRTFDC1 35
  • 77.78 (n)
  • 81.78 (a)
  • 77 (a)
(Anolis carolinensis)
Reptilia PRTFDC1 36
  • 66 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7409 35
tropical clawed frog
(Silurana tropicalis)
Amphibia prtfdc1 35
  • 70.03 (n)
  • 71.1 (a)
Str.12531 35
(Danio rerio)
Actinopterygii hprt1 35
LOC100334391 35
  • 64.25 (n)
  • 63.8 (a)
prtfdc1 36
  • 63 (a)
PRTFDC1 (2 of 2) 36
  • 61 (a)
(Caenorhabditis elegans)
Secernentea Y105E8B.5 36
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
Species with no ortholog for PRTFDC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRTFDC1 Gene

Gene Tree for PRTFDC1 (if available)
Gene Tree for PRTFDC1 (if available)

Paralogs for PRTFDC1 Gene

Paralogs for PRTFDC1 Gene

Selected SIMAP similar genes for PRTFDC1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PRTFDC1: view

Variants for PRTFDC1 Gene

Sequence variations from dbSNP and Humsavar for PRTFDC1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs11627 -- 24,849,007(+) AAAAA(A/T)TTATA utr-variant-3-prime
rs185669 -- 24,949,527(-) GAATC(A/G)AAGCT intron-variant
rs274295 -- 24,948,240(-) TATTA(A/G)TACTT intron-variant
rs274296 -- 24,947,294(-) GCAAA(A/G)CATAA intron-variant
rs274297 -- 24,945,023(-) ggagg(C/T)gccag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRTFDC1 Gene

Variant ID Type Subtype PubMed ID
nsv819709 CNV Gain 19587683
esv2657741 CNV Deletion 23128226
nsv510214 CNV Loss 20534489

Relevant External Links for PRTFDC1 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRTFDC1 Gene

Disorders for PRTFDC1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for PRTFDC1 Gene including...

Search for PRTFDC1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for PRTFDC1 Gene

genes like me logo Genes that share disorders with PRTFDC1: view

No data available for UniProtKB/Swiss-Prot for PRTFDC1 Gene

Publications for PRTFDC1 Gene

  1. Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1. (PMID: 21054786) Welin M. … Nordlund P. (FEBS J. 2010) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Towards a proteome-scale map of the human protein-protein interaction network. (PMID: 16189514) Rual J.F. … Vidal M. (Nature 2005) 3
  4. Gene duplication and inactivation in the HPRT gene family. (PMID: 16928426) Keebaugh A.C. … Thomas J.W. (Genomics 2007) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for PRTFDC1 Gene

Sources for PRTFDC1 Gene

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