Aliases for PRTFDC1 Gene

Aliases for PRTFDC1 Gene

  • Phosphoribosyl Transferase Domain Containing 1 2 3 5
  • Phosphoribosyltransferase Domain-Containing Protein 1 3 4
  • HHGP 3 4
  • EC 52
  • EC 2.4.2 52

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 Acute Laryngitis and Dissociative Amnesia. Gene Ontology (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 Summary 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.

Additional gene information for PRTFDC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRTFDC1 Gene

Genomics for PRTFDC1 Gene

GeneHancer (GH) Regulatory Elements for PRTFDC1 Gene

Promoters and enhancers for PRTFDC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRTFDC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRTFDC1

Top Transcription factor binding sites by QIAGEN in the PRTFDC1 gene promoter:
  • AML1a
  • AP-4
  • E47
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HFH-1
  • MZF-1
  • Spz1

Genomic Locations for PRTFDC1 Gene

Genomic Locations for PRTFDC1 Gene
140,795 bases
Minus strand
103,998 bases
Minus strand

Genomic View for PRTFDC1 Gene

Genes around PRTFDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRTFDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for PRTFDC1 Gene


Post-translational modifications for PRTFDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRTFDC1 Gene

Domains & Families for PRTFDC1 Gene

Gene Families for PRTFDC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PRTFDC1 Gene

Suggested Antigen Peptide Sequences for PRTFDC1 Gene

GenScript: Design optimal peptide antigens:
  • Phosphoribosyltransferase domain-containing protein 1 (PRDC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



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

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

Phenotypes From GWAS Catalog 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 IEA,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
genes like me logo Genes that share phenotypes with PRTFDC1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRTFDC1 Gene

Localization for PRTFDC1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRTFDC1 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1
golgi apparatus 1
cytoskeleton 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PRTFDC1 Gene

Pathways & Interactions for PRTFDC1 Gene

PathCards logo

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 purine ribonucleoside salvage IEA --
GO:0006178 NOT guanine salvage IDA 21054786
GO:0009116 nucleoside metabolic process IEA --
GO:0046038 NOT GMP catabolic process IDA 21054786
genes like me logo Genes that share ontologies with PRTFDC1: view

No data available for Pathways by source and SIGNOR curated interactions for PRTFDC1 Gene

Drugs & Compounds for PRTFDC1 Gene

No Compound Related Data Available

Transcripts for PRTFDC1 Gene

mRNA/cDNA for PRTFDC1 Gene

10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for PRTFDC1 Gene

GeneLoc Exon Structure for

Expression for PRTFDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRTFDC1 Gene

Protein differential expression in normal tissues from HIPED for PRTFDC1 Gene

This gene is overexpressed in Brain (9.1) and Fetal gut (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRTFDC1 Gene

Protein tissue co-expression partners for PRTFDC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRTFDC1

SOURCE GeneReport for Unigene cluster for PRTFDC1 Gene:


Evidence on tissue expression from TISSUES for PRTFDC1 Gene

  • Nervous system(4.7)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with PRTFDC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.41 (n)
(Canis familiaris)
Mammalia PRTFDC1 31 30
  • 90.71 (n)
(Bos Taurus)
Mammalia PRTFDC1 31 30
  • 89.48 (n)
(Monodelphis domestica)
Mammalia PRTFDC1 31
  • 87 (a)
(Rattus norvegicus)
Mammalia Prtfdc1 30
  • 86.37 (n)
(Gallus gallus)
Aves PRTFDC1 31 30
  • 77.78 (n)
(Anolis carolinensis)
Reptilia PRTFDC1 31
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia prtfdc1 30
  • 70.03 (n)
Str.12531 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7409 30
(Danio rerio)
Actinopterygii LOC100334391 30
  • 64.25 (n)
prtfdc1 31
  • 63 (a)
PRTFDC1 (2 of 2) 31
  • 61 (a)
hprt1 30
(Caenorhabditis elegans)
Secernentea Y105E8B.5 31
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
Species where no ortholog for PRTFDC1 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for PRTFDC1: view image

Paralogs for PRTFDC1 Gene

Paralogs for PRTFDC1 Gene

(1) 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

Additional dbSNP identifiers (rs#s) for PRTFDC1 Gene

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

Variant ID Type Subtype PubMed ID
esv2657741 CNV deletion 23128226
esv3622656 CNV loss 21293372
esv3622657 CNV loss 21293372
nsv1122497 CNV deletion 24896259
nsv510214 OTHER sequence alteration 20534489
nsv819709 CNV gain 19587683

Variation tolerance for PRTFDC1 Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRTFDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRTFDC1 Gene

Disorders for PRTFDC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PRTFDC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acute laryngitis
dissociative amnesia
  • psychogenic amnesia
purine-pyrimidine metabolic disorder
  • inborn errors of purine-pyrimidine metabolism
lesch-nyhan syndrome
  • lns
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PRTFDC1

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

No data available for UniProtKB/Swiss-Prot and Genatlas 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 (The FEBS journal 2010) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. The Sharpin interactome reveals a role for Sharpin in lamellipodium formation via the Arp2/3 complex. (PMID: 28775156) Khan MH … Pouwels J (Journal of cell science 2017) 3 54
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 54

Products for PRTFDC1 Gene

Sources for PRTFDC1 Gene