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Aliases for PRPSAP2 Gene

Aliases for PRPSAP2 Gene

  • Phosphoribosyl Pyrophosphate Synthetase-Associated Protein 2 2 3
  • 41 KDa Phosphoribosypyrophosphate Synthetase-Associated Protein 3 4
  • PRPP Synthase-Associated Protein 2 3 4
  • PAP41 3 4

External Ids for PRPSAP2 Gene

Previous GeneCards Identifiers for PRPSAP2 Gene

  • GC17P019014
  • GC17P020422
  • GC17P018686
  • GC17P018962
  • GC17P018702
  • GC17P018334
  • GC17P018842

Summaries for PRPSAP2 Gene

Entrez Gene Summary for PRPSAP2 Gene

  • This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

GeneCards Summary for PRPSAP2 Gene

PRPSAP2 (Phosphoribosyl Pyrophosphate Synthetase-Associated Protein 2) is a Protein Coding gene. GO annotations related to this gene include magnesium ion binding and ribose phosphate diphosphokinase activity. An important paralog of this gene is PRPS1L1.

UniProtKB/Swiss-Prot for PRPSAP2 Gene

  • Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis

Gene Wiki entry for PRPSAP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPSAP2 Gene

Genomics for PRPSAP2 Gene

Regulatory Elements for PRPSAP2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PRPSAP2 Gene

Chromosome:
17
Start:
18,840,085 bp from pter
End:
18,931,287 bp from pter
Size:
91,203 bases
Orientation:
Plus strand

Genomic View for PRPSAP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRPSAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPSAP2 Gene

Proteins for PRPSAP2 Gene

  • Protein details for PRPSAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60256-KPRB_HUMAN
    Recommended name:
    Phosphoribosyl pyrophosphate synthase-associated protein 2
    Protein Accession:
    O60256
    Secondary Accessions:
    • B4E1M8
    • B4E329
    • B7ZKZ1
    • E7EMY2
    • Q6IAS2

    Protein attributes for PRPSAP2 Gene

    Size:
    369 amino acids
    Molecular mass:
    40926 Da
    Quaternary structure:
    • Binds to PRPS1 and PRPS2

    Three dimensional structures from OCA and Proteopedia for PRPSAP2 Gene

    Alternative splice isoforms for PRPSAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPSAP2 Gene

Proteomics data for PRPSAP2 Gene at MOPED

Post-translational modifications for PRPSAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PRPSAP2 Gene

Domains & Families for PRPSAP2 Gene

Protein Domains for PRPSAP2 Gene

Graphical View of Domain Structure for InterPro Entry

O60256

UniProtKB/Swiss-Prot:

KPRB_HUMAN :
  • Belongs to the ribose-phosphate pyrophosphokinase family.
Family:
  • Belongs to the ribose-phosphate pyrophosphokinase family.
genes like me logo Genes that share domains with PRPSAP2: view

No data available for Gene Families for PRPSAP2 Gene

Function for PRPSAP2 Gene

Molecular function for PRPSAP2 Gene

GENATLAS Biochemistry:
phosphoribosylpyrophosphate synthetase-associated protein,41kDa
UniProtKB/Swiss-Prot Function:
Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis

Gene Ontology (GO) - Molecular Function for PRPSAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004749 ribose phosphate diphosphokinase activity IEA --
GO:0004857 enzyme inhibitor activity TAS 9545573
genes like me logo Genes that share ontologies with PRPSAP2: view
genes like me logo Genes that share phenotypes with PRPSAP2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRPSAP2 Gene

Localization for PRPSAP2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRPSAP2 Gene COMPARTMENTS Subcellular localization image for PRPSAP2 gene
Compartment Confidence
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PRPSAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002189 ribose phosphate diphosphokinase complex IEA --
GO:0043234 protein complex --
genes like me logo Genes that share ontologies with PRPSAP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PRPSAP2 Gene

Pathways & Interactions for PRPSAP2 Gene

SuperPathways for PRPSAP2 Gene

No Data Available

Interacting Proteins for PRPSAP2 Gene

Gene Ontology (GO) - Biological Process for PRPSAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 9545573
GO:0009165 nucleotide biosynthetic process IEA --
GO:0043086 negative regulation of catalytic activity TAS 9545573
GO:0060348 bone development IEA --
genes like me logo Genes that share ontologies with PRPSAP2: view

No data available for Pathways by source and SIGNOR curated interactions for PRPSAP2 Gene

Drugs & Compounds for PRPSAP2 Gene

No Compound Related Data Available

Transcripts for PRPSAP2 Gene

Unigene Clusters for PRPSAP2 Gene

Phosphoribosyl pyrophosphate synthetase-associated protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRPSAP2 Gene

No ASD Table

Relevant External Links for PRPSAP2 Gene

GeneLoc Exon Structure for
PRPSAP2
ECgene alternative splicing isoforms for
PRPSAP2

Expression for PRPSAP2 Gene

mRNA expression in normal human tissues for PRPSAP2 Gene

Protein differential expression in normal tissues from HIPED for PRPSAP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPSAP2 Gene



SOURCE GeneReport for Unigene cluster for PRPSAP2 Gene Hs.632236

mRNA Expression by UniProt/SwissProt for PRPSAP2 Gene

O60256-KPRB_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expression patterns with PRPSAP2: view

Protein tissue co-expression partners for PRPSAP2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PRPSAP2 Gene

Orthologs for PRPSAP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PRPSAP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRPSAP2 35
  • 89.25 (n)
  • 97.29 (a)
PRPSAP2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPSAP2 35
  • 91.78 (n)
  • 99.19 (a)
PRPSAP2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prpsap2 35
  • 90.79 (n)
  • 98.92 (a)
Prpsap2 16
Prpsap2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRPSAP2 35
  • 99.55 (n)
  • 99.73 (a)
PRPSAP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prpsap2 35
  • 91.78 (n)
  • 99.19 (a)
oppossum
(Monodelphis domestica)
Mammalia PRPSAP2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 96 (a)
OneToMany
chicken
(Gallus gallus)
Aves PRPSAP2 35
  • 83.56 (n)
  • 95.66 (a)
PRPSAP2 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRPSAP2 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prpsap2 35
  • 79.93 (n)
  • 92.16 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.20729 35
prpsap2 35
  • 78.06 (n)
  • 92.44 (a)
prpsap2 36
  • 92 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2246 37
  • 65 (a)
CG2246 35
  • 63.93 (n)
  • 67.71 (a)
CG2246 36
  • 60 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000954 35
  • 65.51 (n)
  • 71.47 (a)
worm
(Caenorhabditis elegans)
Secernentea W04G3.5 37
  • 59 (a)
CELE_W04G3.5 35
  • 62 (n)
  • 61.22 (a)
W04G3.5 36
  • 60 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS2 36
  • 43 (a)
ManyToMany
PRS3 36
  • 43 (a)
ManyToMany
PRS4 36
  • 42 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2032 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToMany
Species with no ortholog for PRPSAP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 PRPSAP2 Gene

ENSEMBL:
Gene Tree for PRPSAP2 (if available)
TreeFam:
Gene Tree for PRPSAP2 (if available)

Paralogs for PRPSAP2 Gene

Paralogs for PRPSAP2 Gene

genes like me logo Genes that share paralogs with PRPSAP2: view

Variants for PRPSAP2 Gene

Sequence variations from dbSNP and Humsavar for PRPSAP2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs6846 -- 18,930,945(+) TAGTT(G/T)TAACT utr-variant-3-prime
rs874637 -- 18,921,239(+) GAAAT(A/G)TATGT intron-variant
rs966811 -- 18,926,974(-) tacag(C/T)agcac intron-variant
rs1044787 -- 18,931,239(+) GTTTT(A/G)TAACT utr-variant-3-prime
rs1634411 -- 18,930,497(-) GCCAA(A/G)TAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRPSAP2 Gene

Variant ID Type Subtype PubMed ID
nsv9504 CNV Gain+Loss 18304495
nsv523721 CNV Gain 19592680
nsv833390 CNV Loss 17160897
nsv907783 CNV Gain 21882294
dgv3080n71 CNV Gain 21882294
nsv2000 CNV Insertion 18451855
esv2715726 CNV Deletion 23290073
esv2672748 CNV Deletion 23128226
nsv512479 CNV Loss 21212237
esv2533862 CNV Deletion 19546169
esv2279916 CNV Deletion 18987734
esv2715727 CNV Deletion 23290073
esv2677608 CNV Deletion 23128226
esv1041467 CNV Deletion 17803354
nsv112111 CNV Loss 16902084
esv2671076 CNV Deletion 23128226
nsv833391 CNV Loss 17160897
esv2673960 CNV Deletion 23128226
esv33572 CNV Gain 17666407
nsv525221 CNV Gain 19592680
nsv907786 CNV Gain 21882294
nsv457699 CNV Gain 19166990
nsv428336 CNV Gain+Loss 18775914
dgv933e1 CNV Complex 17122850
dgv3081n71 CNV Gain 21882294

Variation tolerance for PRPSAP2 Gene

Residual Variation Intolerance Score: 29.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 8.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRPSAP2 Gene

HapMap Linkage Disequilibrium report
PRPSAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPSAP2 Gene

Disorders for PRPSAP2 Gene

Relevant External Links for PRPSAP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPSAP2
genes like me logo Genes that share disorders with PRPSAP2: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PRPSAP2 Gene

Publications for PRPSAP2 Gene

  1. Assignment of the human phosphoribosylpyrophosphate synthetase-associated protein 41 gene (PRPSAP2) to 17p11.2-p12. (PMID: 9806849) Katashima R. … Itakura M. (Genomics 1998) 2 23 67
  2. [Increased activity of PRPP synthetase]. (PMID: 18409517) Iizasa T. (Nippon Rinsho 2008) 23 67
  3. Molecular cloning of a human cDNA for the 41-kDa phosphoribosylpyrophosphate synthetase-associated protein. (PMID: 9545573) Katashima R. … Itakura M. (Biochim. Biophys. Acta 1998) 23 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 67

Products for PRPSAP2 Gene

Sources for PRPSAP2 Gene

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