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

    Gene ID: 5635, updated on 3-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 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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    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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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