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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

    Gene LinkOut

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