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Aliases for PRPSAP1 Gene

Aliases for PRPSAP1 Gene

  • Phosphoribosyl Pyrophosphate Synthetase Associated Protein 1 2 3 5
  • 39 KDa Phosphoribosypyrophosphate Synthase-Associated Protein 3 4
  • PRPP Synthase-Associated Protein 1 3 4
  • PAP39 3 4
  • Phosphoribosyl Pyrophosphate Synthase-Associated Protein 1 3

External Ids for PRPSAP1 Gene

Previous GeneCards Identifiers for PRPSAP1 Gene

  • GC17M074165
  • GC17M077298
  • GC17M074771
  • GC17M074904
  • GC17M071818
  • GC17M074306
  • GC17M069735

Summaries for PRPSAP1 Gene

GeneCards Summary for PRPSAP1 Gene

PRPSAP1 (Phosphoribosyl Pyrophosphate Synthetase Associated Protein 1) is a Protein Coding gene. GO annotations related to this gene include magnesium ion binding and enzyme inhibitor activity. An important paralog of this gene is PRPSAP2.

UniProtKB/Swiss-Prot for PRPSAP1 Gene

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

Gene Wiki entry for PRPSAP1 Gene

Additional gene information for PRPSAP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPSAP1 Gene

Genomics for PRPSAP1 Gene

Regulatory Elements for PRPSAP1 Gene


Enhancers around PRPSAP1 on UCSC Golden Path with GeneCards custom track

Promoters for PRPSAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098556 121 3201 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 FOS

Genomic Location for PRPSAP1 Gene

Chromosome:
17
Start:
76,309,486 bp from pter
End:
76,384,521 bp from pter
Size:
75,036 bases
Orientation:
Minus strand

Genomic View for PRPSAP1 Gene

Genes around PRPSAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPSAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPSAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPSAP1 Gene

Proteins for PRPSAP1 Gene

  • Protein details for PRPSAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14558-KPRA_HUMAN
    Recommended name:
    Phosphoribosyl pyrophosphate synthase-associated protein 1
    Protein Accession:
    Q14558
    Secondary Accessions:
    • B2R6M4
    • Q96H06

    Protein attributes for PRPSAP1 Gene

    Size:
    356 amino acids
    Molecular mass:
    39394 Da
    Quaternary structure:
    • Binds to PRPS1 and PRPS2.
    SequenceCaution:
    • Sequence=BAG35521.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PRPSAP1 Gene

    Alternative splice isoforms for PRPSAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPSAP1 Gene

Post-translational modifications for PRPSAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRPSAP1 Gene

Antibody Products

  • Abcam antibodies for PRPSAP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PRPSAP1

No data available for DME Specific Peptides for PRPSAP1 Gene

Domains & Families for PRPSAP1 Gene

Gene Families for PRPSAP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PRPSAP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14558

UniProtKB/Swiss-Prot:

KPRA_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 PRPSAP1: view

Function for PRPSAP1 Gene

Molecular function for PRPSAP1 Gene

GENATLAS Biochemistry:
phosphoribosylpyrophosphate synthetase-associated protein,39kDa
UniProtKB/Swiss-Prot Function:
Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.

Phenotypes From GWAS Catalog for PRPSAP1 Gene

Gene Ontology (GO) - Molecular Function for PRPSAP1 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 8132556
GO:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with PRPSAP1: view
genes like me logo Genes that share phenotypes with PRPSAP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PRPSAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PRPSAP1 Gene

Localization for PRPSAP1 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 PRPSAP1 gene
Compartment Confidence
mitochondrion 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PRPSAP1 Gene

Pathways & Interactions for PRPSAP1 Gene

SuperPathways for PRPSAP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRPSAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 8611620
GO:0009116 nucleoside metabolic process IEA --
GO:0009165 nucleotide biosynthetic process IEA --
GO:0043086 negative regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PRPSAP1: view

No data available for Pathways by source and SIGNOR curated interactions for PRPSAP1 Gene

Drugs & Compounds for PRPSAP1 Gene

No Compound Related Data Available

Transcripts for PRPSAP1 Gene

Unigene Clusters for PRPSAP1 Gene

Phosphoribosyl pyrophosphate synthetase-associated protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PRPSAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PRPSAP1 Gene

No ASD Table

Relevant External Links for PRPSAP1 Gene

GeneLoc Exon Structure for
PRPSAP1
ECgene alternative splicing isoforms for
PRPSAP1

Expression for PRPSAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRPSAP1 Gene

Protein differential expression in normal tissues from HIPED for PRPSAP1 Gene

This gene is overexpressed in Bone marrow stromal cell (7.1) and Pancreatic juice (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRPSAP1 Gene



Protein tissue co-expression partners for PRPSAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRPSAP1 Gene:

PRPSAP1

SOURCE GeneReport for Unigene cluster for PRPSAP1 Gene:

Hs.77498

mRNA Expression by UniProt/SwissProt for PRPSAP1 Gene:

Q14558-KPRA_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PRPSAP1 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with PRPSAP1: 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 PRPSAP1 Gene

Orthologs for PRPSAP1 Gene

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

Orthologs for PRPSAP1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia PRPSAP1 34
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRPSAP1 33 34
  • 95.63 (n)
dog
(Canis familiaris)
Mammalia PRPSAP1 33 34
  • 92.79 (n)
cow
(Bos Taurus)
Mammalia PRPSAP1 33 34
  • 91.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRPSAP1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prpsap1 33 16 34
  • 89.48 (n)
rat
(Rattus norvegicus)
Mammalia Prpsap1 33
  • 89.13 (n)
chicken
(Gallus gallus)
Aves PRPSAP1 33 34
  • 86.05 (n)
lizard
(Anolis carolinensis)
Reptilia PRPSAP1 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prpsap1 33
  • 76.53 (n)
MGC75778 33
zebrafish
(Danio rerio)
Actinopterygii PRPSAP1 34
  • 78 (a)
OneToOne
prpsap1 33
  • 77.24 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11236 33
fruit fly
(Drosophila melanogaster)
Insecta CG2246 35 34
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea W04G3.5 35 34
  • 59 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS3 34
  • 45 (a)
ManyToMany
PRS2 34
  • 42 (a)
ManyToMany
PRS4 34
  • 42 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
OneToMany
Species where no ortholog for PRPSAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 PRPSAP1 Gene

ENSEMBL:
Gene Tree for PRPSAP1 (if available)
TreeFam:
Gene Tree for PRPSAP1 (if available)

Paralogs for PRPSAP1 Gene

Paralogs for PRPSAP1 Gene

(4) SIMAP similar genes for PRPSAP1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PRPSAP1: view

Variants for PRPSAP1 Gene

Sequence variations from dbSNP and Humsavar for PRPSAP1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000025741 -- 76,339,611(+) GAAGA(C/G)ACTTG intron-variant
rs1000039552 -- 76,347,996(+) GAAGC(A/C)GTAGT intron-variant
rs1000108425 -- 76,343,255(+) GAAAG(A/C/G)AGATA intron-variant
rs1000140669 -- 76,353,488(+) GGAGA(C/G)CTAGG intron-variant
rs1000141047 -- 76,343,013(+) TGGAG(C/G)CTGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRPSAP1 Gene

Variant ID Type Subtype PubMed ID
esv24990 CNV loss 19812545
esv2668273 CNV deletion 23128226
esv3641284 CNV loss 21293372
esv3641285 CNV loss 21293372
esv3893045 CNV loss 25118596
nsv476936 CNV novel sequence insertion 20440878
nsv518967 CNV loss 19592680
nsv527075 CNV gain 19592680
nsv833547 CNV loss 17160897
nsv962367 CNV duplication 23825009

Variation tolerance for PRPSAP1 Gene

Residual Variation Intolerance Score: 17.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRPSAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRPSAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPSAP1 Gene

Disorders for PRPSAP1 Gene

Relevant External Links for PRPSAP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPSAP1

No disorders were found for PRPSAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PRPSAP1 Gene

Publications for PRPSAP1 Gene

  1. The human phosphoribosylpyrophosphate synthetase-associated protein 39 gene (PRPSAP1) is located in the chromosome region 17q24-q25. (PMID: 8660991) Ishizuka T … Tatibana M (Genomics 1996) 2 3 22 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Cloning and sequencing of human complementary DNA for the phosphoribosylpyrophosphate synthetase-associated protein 39. (PMID: 8611620) Ishizuka T … Tatibana M (Biochimica et biophysica acta 1996) 3 4 60
  5. Mammalian phosphoribosyl-pyrophosphate synthetase. (PMID: 7572345) Tatibana M … Ahmad I (Advances in enzyme regulation 1995) 3 22 60

Products for PRPSAP1 Gene

Sources for PRPSAP1 Gene

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