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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. Diseases associated with PRPSAP1 include Hepatocellular Carcinoma. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for PRPSAP1 Gene

Promoters and enhancers for PRPSAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J076352 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 666 +30.5 30489 2.9 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 PRPSAP1 UNK SRSF2 METTL23 ENSG00000266980 SEPT9 MFSD11 ENSG00000267342 EXOC7 SAP30BP
GH17J076380 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.5 507 6 CLOCK MLX ZFP64 DMAP1 SLC30A9 ZNF213 ZNF143 SP3 NFYC MEF2D SPHK1 PRPSAP1 UNK SRSF2 ENSG00000266980 MFSD11 ENSG00000267342 METTL23 ENSG00000267546 SEPT9
GH17J076258 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 24 +116.5 116546 19.6 CLOCK DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A UBALD2 UNK ENSG00000267342 SRSF2 TRIM65 ENSG00000266980 ENSG00000267546 METTL23 MFSD11 EXOC7
GH17J077233 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -850.3 -850314 3.3 PKNOX1 ARNT SIN3A FEZF1 ZNF2 CBX5 ZNF213 E2F8 ZNF416 ZNF143 SRSF2 METTL23 TNRC6C ENSG00000267546 SEPT9 PRPSAP1 SNHG20 RNU4-47P ENSG00000267543 MFSD11
GH17J076542 Enhancer 1.4 Ensembl ENCODE dbSUPER 22 -160.5 -160544 5.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YBX1 ZNF2 POLR2B ZNF207 UNK SRSF2 ENSG00000267342 ENSG00000267543 ENSG00000266980 METTL23 ENSG00000267546 SEPT9 TRIM65 SNHG16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRPSAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRPSAP1 gene promoter:
  • AP-2alphaA
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4

Genomic Locations for PRPSAP1 Gene

Genomic Locations for PRPSAP1 Gene
chr17:76,309,486-76,384,521
(GRCh38/hg38)
Size:
75,036 bases
Orientation:
Minus strand
chr17:74,305,567-74,380,602
(GRCh37/hg19)
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

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

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

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

Clone Products

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

mRNA/cDNA for PRPSAP1 Gene

Unigene Clusters for PRPSAP1 Gene

Phosphoribosyl pyrophosphate synthetase-associated protein 1:
Representative Sequences:

Clone Products

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, 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

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 34 33
  • 95.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRPSAP1 34 33
  • 92.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRPSAP1 34 33
  • 91.01 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPSAP1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prpsap1 16 34 33
  • 89.48 (n)
rat
(Rattus norvegicus)
Mammalia Prpsap1 33
  • 89.13 (n)
chicken
(Gallus gallus)
Aves PRPSAP1 34 33
  • 86.05 (n)
OneToOne
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 34 35
  • 57 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W04G3.5 34 35
  • 58 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS3 34
  • 45 (a)
ManyToMany
PRS4 34
  • 42 (a)
ManyToMany
PRS2 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)
Aminode:
Evolutionary constrained regions (ECRs) for PRPSAP1: view image

Paralogs for PRPSAP1 Gene

Paralogs for PRPSAP1 Gene

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

  • KPRA_HUMAN
  • B4DP31_HUMAN
  • C9J168_HUMAN
  • C9JKT9_HUMAN
  • C9JNQ3_HUMAN
  • C9JUN4_HUMAN
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 Variation AA Info Type
rs1000025741 -- 76,339,611(-) G/C intron_variant
rs1000039552 -- 76,347,996(-) A/C intron_variant
rs1000108425 -- 76,343,255(-) G/A/C intron_variant
rs1000140669 -- 76,353,488(-) G/C intron_variant
rs1000141047 -- 76,343,013(-) G/A/C 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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for PRPSAP1 Gene - From: LncRNADisease

Disorder Aliases PubMed IDs
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PRPSAP1

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

No data available for 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  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 58
  5. Mammalian phosphoribosyl-pyrophosphate synthetase. (PMID: 7572345) Tatibana M … Ahmad I (Advances in enzyme regulation 1995) 3 22 58

Products for PRPSAP1 Gene

Sources for PRPSAP1 Gene

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