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Aliases for PRTFDC1 Gene

Aliases for PRTFDC1 Gene

  • Phosphoribosyl Transferase Domain Containing 1 2 3 5
  • HHGP 3 4
  • EC 2.4.2.8 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. 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

Enhancers for PRTFDC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRTFDC1 on UCSC Golden Path with GeneCards custom track

Promoters for PRTFDC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRTFDC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRTFDC1 Gene

Chromosome:
10
Start:
24,812,957 bp from pter
End:
24,953,751 bp from pter
Size:
140,795 bases
Orientation:
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:
    Q9NRG1-PRDC1_HUMAN
    Recommended name:
    Phosphoribosyltransferase domain-containing protein 1
    Protein Accession:
    Q9NRG1
    Secondary Accessions:
    • B7Z1Z3
    • Q53HA7
    • Q59EL9
    • Q5VV18
    • Q5VV20

    Protein attributes for PRTFDC1 Gene

    Size:
    225 amino acids
    Molecular mass:
    25674 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRTFDC1 Gene

Antibody Products

Domains & Families 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

UniProtKB/Swiss-Prot:

PRDC1_HUMAN :
  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Family:
  • 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:0004422 NOT hypoxanthine phosphoribosyltransferase activity IEA,IDA 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

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

COMPARTMENTS
Jensen Localization Image for PRTFDC1 Gene COMPARTMENTS Subcellular localization image for PRTFDC1 gene
Compartment Confidence
cytosol 5
nucleus 3
golgi apparatus 2
peroxisome 2
cytoskeleton 1
extracellular 1

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

Pathways & Interactions 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 purine ribonucleoside salvage IEA --
GO:0006178 NOT guanine salvage IDA 21054786
GO:0032263 NOT GMP salvage IBA --
GO:0046100 NOT hypoxanthine metabolic process IBA --
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

Unigene Clusters for PRTFDC1 Gene

Phosphoribosyl transferase domain containing 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for PRTFDC1 Gene

GeneLoc Exon Structure for
PRTFDC1
ECgene alternative splicing isoforms for
PRTFDC1

Expression for PRTFDC1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for PRTFDC1 Gene



SOURCE GeneReport for Unigene cluster for PRTFDC1 Gene Hs.405619

genes like me logo Genes that share expression patterns with PRTFDC1: view

Protein tissue co-expression partners for PRTFDC1 Gene

- Elite partner

Primer 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
cow
(Bos Taurus)
Mammalia PRTFDC1 35
  • 89.48 (n)
  • 90.67 (a)
PRTFDC1 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRTFDC1 35
  • 90.71 (n)
  • 93.27 (a)
PRTFDC1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRTFDC1 35
  • 99.41 (n)
  • 100 (a)
PRTFDC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prtfdc1 35
  • 86.37 (n)
  • 91.56 (a)
oppossum
(Monodelphis domestica)
Mammalia PRTFDC1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRTFDC1 35
  • 77.78 (n)
  • 81.78 (a)
PRTFDC1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRTFDC1 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prtfdc1 35
  • 70.03 (n)
  • 71.1 (a)
Str.12531 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7409 35
zebrafish
(Danio rerio)
Actinopterygii hprt1 35
LOC100334391 35
  • 64.25 (n)
  • 63.8 (a)
prtfdc1 36
  • 63 (a)
OneToMany
PRTFDC1 (2 of 2) 36
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y105E8B.5 36
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PRTFDC1 (if available)
TreeFam:
Gene Tree for PRTFDC1 (if available)

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

Sequence variations from dbSNP and Humsavar for PRTFDC1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1475359 -- 24,813,588(+) GTCCC(A/G)GACCT reference, missense
rs1543575 -- 24,891,220(-) CAAAT(G/T)AAATT intron-variant
rs1543576 -- 24,891,075(-) TGCCC(A/G)AAGTA intron-variant
rs1575862 -- 24,838,771(-) ATAGC(A/C)TTAAA intron-variant
rs1575863 -- 24,835,106(-) agagc(C/T)gcaga 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

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)

Relevant External Links for PRTFDC1 Gene

HapMap Linkage Disequilibrium report
PRTFDC1

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

Disorders for PRTFDC1 Gene

Relevant External Links for PRTFDC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRTFDC1

No disorders were found for PRTFDC1 Gene.

No data available for MalaCards , 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. (FEBS J. 2010) 3 4 67
  2. Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene. (PMID: 25456346) Nievergelt C.M. … Baker D.G. (Psychoneuroendocrinology 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. (PMID: 23934736) Yu B. … Boerwinkle E. (Genet. Epidemiol. 2013) 3

Products for PRTFDC1 Gene

Sources for PRTFDC1 Gene

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