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Aliases for PRPSAP2 Gene

Aliases for PRPSAP2 Gene

  • Phosphoribosyl Pyrophosphate Synthetase Associated Protein 2 2 3 5
  • 41 KDa Phosphoribosypyrophosphate Synthetase-Associated Protein 3 4
  • PRPP Synthase-Associated Protein 2 3 4
  • PAP41 3 4
  • Phosphoribosyl Pyrophosphate Synthetase-Associated Protein 2 2
  • Phosphoribosyl Pyrophosphate Synthase-Associated Protein 2 3

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 PRPSAP1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPSAP2 Gene

Genomics for PRPSAP2 Gene

Regulatory Elements for PRPSAP2 Gene

Enhancers for PRPSAP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G018857 1.3 Ensembl ENCODE 38.1 +19.3 19286 3.8 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A YY1 ZNF121 GLIS2 ZNF207 PRPSAP2 TVP23B FOXO3B ENSG00000264273 RN7SL627P
GH17G018899 1.4 FANTOM5 Ensembl ENCODE 34.1 +60.7 60743 3.1 HDGF PKNOX1 TBL1XR1 EGR1 ETV6 RELB IKZF2 CREM CBFB JUNB PRPSAP2 TVP23B ENSG00000212618 GC17P018891 LOC100419620
GH17G018855 1 ENCODE 36.5 +16.2 16190 1.6 HDGF ATF1 CREB3L1 ARID4B SIN3A BRCA1 ZNF48 YY1 ZNF121 GATA2 PRPSAP2 ENSG00000264273 RN7SL627P
GH17G018866 0.8 ENCODE 36.3 +27.9 27909 3.0 ELF3 ATF1 DMAP1 RARA YY1 SCRT2 ZSCAN5C ZNF362 HMG20B SP5 PRPSAP2 TVP23B PIR39879 GC17P018890
GH17G018849 1 Ensembl ENCODE 27.2 +10.4 10378 1.3 PKNOX1 BACH1 ZEB1 ZNF316 FOS NFE2 CREM NFE2L2 BHLHE40 MAFG PRPSAP2 RN7SL627P ENSG00000264273
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRPSAP2 on UCSC Golden Path with GeneCards custom track

Promoters for PRPSAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000282680 1 1401 HDGF ATF1 ARID4B SIN3A BRCA1 ZNF48 YY1 ZNF121 GATA2 ZNF143

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

Genes around PRPSAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPSAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for PRPSAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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
GO:0005515 protein binding IPI 26496610
genes like me logo Genes that share ontologies with PRPSAP2: view
genes like me logo Genes that share phenotypes with PRPSAP2: view

Animal Models for PRPSAP2 Gene

MGI Knock Outs for PRPSAP2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PRPSAP2 Gene

Localization for PRPSAP2 Gene

Subcellular locations from

COMPARTMENTS
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 PRPSAP2 gene
Compartment Confidence
cytosol 4
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

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 IEA --
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

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:0009116 nucleoside metabolic process IEA --
GO:0009165 nucleotide biosynthetic process IEA --
GO:0043086 negative regulation of catalytic activity IEA --
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PRPSAP2 Gene



Protein tissue co-expression partners for PRPSAP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRPSAP2 Gene:

PRPSAP2

SOURCE GeneReport for Unigene cluster for PRPSAP2 Gene:

Hs.632236

mRNA Expression by UniProt/SwissProt for PRPSAP2 Gene:

O60256-KPRB_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PRPSAP2 Gene

  • Nervous system(4.8)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with PRPSAP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PRPSAP2 34 35
  • 99.55 (n)
oppossum
(Monodelphis domestica)
Mammalia PRPSAP2 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PRPSAP2 34 35
  • 91.78 (n)
rat
(Rattus norvegicus)
Mammalia Prpsap2 34
  • 91.78 (n)
mouse
(Mus musculus)
Mammalia Prpsap2 34 16 35
  • 90.79 (n)
cow
(Bos Taurus)
Mammalia PRPSAP2 34 35
  • 89.25 (n)
chicken
(Gallus gallus)
Aves PRPSAP2 34 35
  • 83.56 (n)
lizard
(Anolis carolinensis)
Reptilia PRPSAP2 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prpsap2 34
  • 79.93 (n)
zebrafish
(Danio rerio)
Actinopterygii prpsap2 34 35
  • 78.06 (n)
Dr.20729 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000954 34
  • 65.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2246 36 34 35
  • 63.93 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_W04G3.5 34
  • 62 (n)
W04G3.5 36 35
  • 59 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS2 35
  • 43 (a)
ManyToMany
PRS3 35
  • 43 (a)
ManyToMany
PRS4 35
  • 42 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2032 34
Species where no ortholog for PRPSAP2 was found in the sources mined by GeneCards:
  • 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
rs1000061135 -- 18,923,355(+) CCCGC(C/T)TCAGC intron-variant
rs1000072113 -- 18,930,853(+) TTTAT(A/G)TCGGT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1000117383 -- 18,863,691(+) CCACG(A/C)CCGGC intron-variant, upstream-variant-2KB
rs1000127493 -- 18,897,450(+) CTATA(-/GTG)GTGTT intron-variant
rs1000173733 -- 18,859,505(+) AGCTT(C/T)CCTGT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1427n106 CNV deletion 24896259
dgv5491n54 CNV gain 21841781
dgv565e214 CNV gain 21293372
esv1041467 CNV deletion 17803354
esv2279916 CNV deletion 18987734
esv2533862 CNV deletion 19546169
esv2671076 CNV deletion 23128226
esv2672748 CNV deletion 23128226
esv2673960 CNV deletion 23128226
esv2677608 CNV deletion 23128226
esv2758678 CNV gain+loss 17122850
esv3160456 CNV deletion 24192839
esv33572 CNV gain 17666407
esv3554226 CNV deletion 23714750
esv3640167 CNV loss 21293372
esv3640168 CNV loss 21293372
nsv1055999 CNV gain 25217958
nsv1057803 CNV loss 25217958
nsv112111 CNV deletion 16902084
nsv1134606 CNV deletion 24896259
nsv1153683 CNV deletion 26484159
nsv2000 CNV insertion 18451855
nsv428336 CNV gain+loss 18775914
nsv457699 CNV gain 19166990
nsv512479 CNV loss 21212237
nsv523721 CNV gain 19592680
nsv525221 CNV gain 19592680
nsv574552 CNV gain 21841781
nsv833390 CNV loss 17160897
nsv833391 CNV loss 17160897
nsv9504 CNV gain+loss 18304495
nsv955392 CNV deletion 24416366
nsv978382 CNV duplication 23825009

Variation tolerance for PRPSAP2 Gene

Residual Variation Intolerance Score: 29.5% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for PRPSAP2 Gene.

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 3 22 64
  2. Molecular cloning of a human cDNA for the 41-kDa phosphoribosylpyrophosphate synthetase-associated protein. (PMID: 9545573) Katashima R. … Itakura M. (Biochim. Biophys. Acta 1998) 3 4 22 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3 64

Products for PRPSAP2 Gene

Sources for PRPSAP2 Gene

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