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PRPSAP1 phosphoribosyl pyrophosphate synthetase associated protein 1 [ Homo sapiens (human) ]

Gene ID: 5635, updated on 27-Nov-2024

Summary

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Official Symbol
PRPSAP1provided by HGNC
Official Full Name
phosphoribosyl pyrophosphate synthetase associated protein 1provided by HGNC
Primary source
HGNC:HGNC:9466
See related
Ensembl:ENSG00000161542 MIM:601249; AllianceGenome:HGNC:9466
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAP39
Summary
Enables identical protein binding activity. Predicted to be involved in 5-phosphoribose 1-diphosphate biosynthetic process and purine nucleotide biosynthetic process. Predicted to be part of ribose phosphate diphosphokinase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 21.2), testis (RPKM 17.1) and 25 other tissues See more
Orthologs
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Genomic context

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See PRPSAP1 in Genome Data Viewer
Location:
17q25.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76309478..76354198, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77206033..77250766, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74305559..74350279, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12794 Neighboring gene Sharpr-MPRA regulatory region 14042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74268019-74268543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74268544-74269067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74273189-74274033 Neighboring gene UBA like domain containing 2 Neighboring gene glutamine rich 2 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, U6 small nuclear 24, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74346967-74347514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9012 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74349963-74350827 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 43 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74364234-74364734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74364735-74365235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9015 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74386817-74386991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74394983-74395483 Neighboring gene sphingosine kinase 1 Neighboring gene ubiquitin conjugating enzyme E2 O Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74418617-74419118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74419119-74419618 Neighboring gene ribosomal protein L7 pseudogene 49

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cloning and sequencing of human complementary DNA for the phosphoribosylpyrophosphate synthetase-associated protein 39. Ishizuka T, et al. Biochim Biophys Acta, 1996 Apr 10. PMID 8611620
  2. The human phosphoribosylpyrophosphate synthetase-associated protein 39 gene (PRPSAP1) is located in the chromosome region 17q24-q25. Ishizuka T, et al. Genomics, 1996 Apr 15. PMID 8660991
  3. Mammalian phosphoribosyl-pyrophosphate synthetase. Tatibana M, et al. Adv Enzyme Regul, 1995. PMID 7572345
  4. Partial reconstitution of mammalian phosphoribosylpyrophosphate synthetase in Escherichia coli cells. Coexpression of catalytic subunits with the 39-kDa associated protein leads to formation of soluble multimeric complexes of various compositions. Ishijima S, et al. Biochim Biophys Acta, 1997 Sep 26. PMID 9366267
  5. 14-3-3 epsilon dynamically interacts with key components of mitogen-activated protein kinase signal module for selective modulation of the TNF-alpha-induced time course-dependent NF-kappaB activity. Zuo S, et al. J Proteome Res, 2010 Jul 2. PMID 20462248

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme inhibitor activity TAS
Traceable Author Statement
more info
 PubMed 
enables enzyme regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in 5-phosphoribose 1-diphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in purine nucleotide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
phosphoribosyl pyrophosphate synthase-associated protein 1
Names
39 kDa phosphoribosypyrophosphate synthase-associated protein
PRPP synthase-associated protein 1
NP_001317432.1
NP_001353165.1
NP_002757.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001330503.2 → NP_001317432.1  phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC090699
    Consensus CDS
    CCDS82209.1
    UniProtKB/TrEMBL
    B4DP31, C9J168
    Conserved Domains (2) summary
    pfam13793
    Location:1 → 52
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:93 → 276
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  2. NM_001366236.2 → NP_001353165.1  phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC090699
    Consensus CDS
    CCDS82209.1
    UniProtKB/TrEMBL
    B4DP31, C9J168
    Related
    ENSP00000314973.4, ENST00000324684.8
    Conserved Domains (2) summary
    pfam13793
    Location:1 → 52
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:93 → 276
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  3. NM_002766.3 → NP_002757.2  phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC090699, AI289298, AK312637, BC009012, DB031565
    Consensus CDS
    CCDS11743.2
    UniProtKB/Swiss-Prot
    B2R6M4, Q14558, Q96H06
    Related
    ENSP00000414624.2, ENST00000446526.8
    Conserved Domains (3) summary
    COG0462
    Location:37 → 379
    PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
    pfam13793
    Location:38 → 155
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:196 → 379
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    76309478..76354198 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    77206033..77250766 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008484863.1 RNA Sequence

  2. XR_008484864.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14558.2 GenPept UniProtKB/Swiss-Prot:Q14558

Gene LinkOut

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