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

Gene ID: 5635, updated on 9-Dec-2018

Summary

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
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
Expression
Ubiquitous expression in thyroid (RPKM 21.2), testis (RPKM 17.1) and 25 other tissues See more
Orthologs

Genomic context

See PRPSAP1 in Genome Data Viewer
Location:
17q25.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (76310736..76354202, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74306868..74379970, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985019 Neighboring gene UBA like domain containing 2 Neighboring gene glutamine rich 2 Neighboring gene RNA, U6 small nuclear 24, pseudogene Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 43 Neighboring gene sphingosine kinase 1 Neighboring gene ubiquitin conjugating enzyme E2 O Neighboring gene ribosomal protein L7 pseudogene 49

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
phosphoribosyl pyrophosphate synthase-associated protein 1
Names
39 kDa phosphoribosypyrophosphate synthase-associated protein
PRPP synthase-associated protein 1
NP_001317432.1
NP_002757.2
XP_024306605.1

NCBI Reference Sequences (RefSeq)

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_001330503.1NP_001317432.1  phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC090699
    Consensus CDS
    CCDS82209.1
    UniProtKB/TrEMBL
    B4DP31
    Conserved Domains (2) summary
    pfam14572
    Location:93276
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  2. NM_001366236.1NP_001353165.1  phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC090699
    Conserved Domains (2) summary
    pfam14572
    Location:93276
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  3. NM_002766.2NP_002757.2  phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AI289298, AK312637, BC009012, DB031565
    Consensus CDS
    CCDS11743.2
    UniProtKB/Swiss-Prot
    Q14558
    Related
    ENSP00000414624.2, ENST00000446526.7
    Conserved Domains (3) summary
    COG0462
    Location:37379
    PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
    pfam13793
    Location:38155
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:196379
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    76310736..76354202 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450837.1XP_024306605.1  phosphoribosyl pyrophosphate synthase-associated protein 1 isoform X1

    Related
    ENSP00000314973.4, ENST00000324684.8
    Conserved Domains (2) summary
    pfam14572
    Location:93276
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

RNA

  1. XR_001752566.2 RNA Sequence

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