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Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 [ Mus musculus (house mouse) ]

Gene ID: 212627, updated on 27-Nov-2024

Summary

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Official Symbol
Prpsap2provided by MGI
Official Full Name
phosphoribosyl pyrophosphate synthetase-associated protein 2provided by MGI
Primary source
MGI:MGI:2384838
See related
Ensembl:ENSMUSG00000020528 AllianceGenome:MGI:2384838
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PAP41; A230054F23Rik
Summary
Predicted to enable enzyme regulator activity and identical protein binding activity. Acts upstream of or within bone development. Predicted to be part of ribose phosphate diphosphokinase complex. Predicted to be active in cytoplasm. Is expressed in central nervous system; ganglia; neural retina; and renal cortex. Orthologous to human PRPSAP2 (phosphoribosyl pyrophosphate synthetase associated protein 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 16.4), CNS E14 (RPKM 16.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Prpsap2 in Genome Data Viewer
Location:
11 B2; 11 37.96 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (61620476..61652924, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (61729650..61762098, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3958 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:61483303-61483412 Neighboring gene GRB2-related adaptor protein Neighboring gene solute carrier family 5 (sodium/glucose cotransporter), member 10 Neighboring gene family with sequence similarity 83, member G Neighboring gene unc-51 like kinase 2 Neighboring gene STARR-seq mESC enhancer starr_29688 Neighboring gene A kinase anchor protein 10 Neighboring gene STARR-seq mESC enhancer starr_29689 Neighboring gene STARR-positive B cell enhancer ABC_E8413

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength. Bassett JH, et al. PLoS Genet, 2012. PMID 22876197, Free PMC Article
  2. Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. Yan J, et al. Am J Hum Genet, 2007 Mar. PMID 17273973, Free PMC Article
  3. Brn3a and Nurr1 mediate a gene regulatory pathway for habenula development. Quina LA, et al. J Neurosci, 2009 Nov 11. PMID 19906978, Free PMC Article
  4. The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3. Sánchez-Bellver L, et al. Int J Mol Sci, 2022 Oct 19. PMID 36293380, Free PMC Article
  5. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC36957, MGC118451

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables enzyme regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in 5-phosphoribose 1-diphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within bone development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nucleotide biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
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
  
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
  
part_of ribose phosphate diphosphokinase complex IEA
Inferred from Electronic Annotation
more info
  
part_of ribose phosphate diphosphokinase complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
phosphoribosyl pyrophosphate synthase-associated protein 2
Names
41 kDa phosphoribosypyrophosphate synthetase-associated protein
PRPP synthase-associated protein 2
PRPP synthetase-associated protein 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_001164242.1 → NP_001157714.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform a

    See identical proteins and their annotated locations for NP_001157714.1

    Status: VALIDATED

    Source sequence(s)
    AK038680, BY204265, BY550047
    Consensus CDS
    CCDS24819.1
    UniProtKB/Swiss-Prot
    Q8R574
    UniProtKB/TrEMBL
    Q5SWZ0, Q8BK37
    Related
    ENSMUSP00000126274.2, ENSMUST00000168115.8
    Conserved Domains (2) summary
    pfam13793
    Location:20 → 138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:179 → 363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  2. NM_001164243.1 → NP_001157715.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform b

    See identical proteins and their annotated locations for NP_001157715.1

    Status: VALIDATED

    Source sequence(s)
    AK038680, BY204265, BY550047
    UniProtKB/TrEMBL
    Q05BD4
    Related
    ENSMUST00000151966.8
    Conserved Domains (2) summary
    pfam13793
    Location:1 → 52
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:93 → 277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  3. NM_001164244.1 → NP_001157716.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform b

    See identical proteins and their annotated locations for NP_001157716.1

    Status: VALIDATED

    Source sequence(s)
    AK038680, BY204265, BY550047
    UniProtKB/TrEMBL
    Q05BD4
    Conserved Domains (2) summary
    pfam13793
    Location:1 → 52
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:93 → 277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  4. NM_001364086.1 → NP_001351015.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AL596209
    Consensus CDS
    CCDS24819.1
    UniProtKB/Swiss-Prot
    Q8R574
    UniProtKB/TrEMBL
    Q5SWZ0, Q8BK37
    Conserved Domains (2) summary
    pfam13793
    Location:20 → 138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:179 → 363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  5. NM_001364087.1 → NP_001351016.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AL596209
    Consensus CDS
    CCDS24819.1
    UniProtKB/Swiss-Prot
    Q8R574
    UniProtKB/TrEMBL
    Q5SWZ0, Q8BK37
    Conserved Domains (2) summary
    pfam13793
    Location:20 → 138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:179 → 363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  6. NM_001364088.1 → NP_001351017.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform c

    Status: VALIDATED

    Source sequence(s)
    AL596209
    Conserved Domains (2) summary
    pfam13793
    Location:1 → 59
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:100 → 284
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  7. NM_001364090.1 → NP_001351019.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform b

    Status: VALIDATED

    Source sequence(s)
    AL596209
    UniProtKB/TrEMBL
    Q05BD4
    Conserved Domains (2) summary
    pfam13793
    Location:1 → 52
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:93 → 277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  8. NM_144806.2 → NP_659055.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform a

    See identical proteins and their annotated locations for NP_659055.1

    Status: VALIDATED

    Source sequence(s)
    AK038680, BY204265, BY550047
    Consensus CDS
    CCDS24819.1
    UniProtKB/Swiss-Prot
    Q8R574
    UniProtKB/TrEMBL
    Q5SWZ0, Q8BK37
    Related
    ENSMUSP00000004955.8, ENSMUST00000004955.14
    Conserved Domains (2) summary
    pfam13793
    Location:20 → 138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:179 → 363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    61620476..61652924 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030245755.2 → XP_030101615.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q8R574
    UniProtKB/TrEMBL
    Q5SWZ0, Q8BK37
    Conserved Domains (2) summary
    pfam13793
    Location:20 → 138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:179 → 363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  2. XM_030245756.2 → XP_030101616.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X2

    Conserved Domains (2) summary
    pfam13793
    Location:1 → 59
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:100 → 284
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  3. XM_036156496.1 → XP_036012389.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X2

    Conserved Domains (2) summary
    pfam13793
    Location:1 → 59
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:100 → 284
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain

  4. XM_036156497.1 → XP_036012390.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X2

    Conserved Domains (2) summary
    pfam13793
    Location:1 → 59
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:100 → 284
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8R574.1 GenPept UniProtKB/Swiss-Prot:Q8R574

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