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    PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 [ Homo sapiens (human) ]

    Gene ID: 5636, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PRPSAP2provided by HGNC
    Official Full Name
    phosphoribosyl pyrophosphate synthetase associated protein 2provided by HGNC
    Primary source
    HGNC:HGNC:9467
    See related
    Ensembl:ENSG00000141127 MIM:603762; AllianceGenome:HGNC:9467
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAP41
    Summary
    This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
    Expression
    Ubiquitous expression in lymph node (RPKM 12.0), testis (RPKM 9.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRPSAP2 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18856299..18931287)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18802453..18877802)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18759612..18834600)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene trans-golgi network vesicle protein 23 homolog B Neighboring gene NANOG hESC enhancer GRCh37_chr17:18706781-18707432 Neighboring gene coiled-coil domain-containing protein 144A-like Neighboring gene RNA, 7SL, cytoplasmic 627, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18759295-18759795 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18761223-18761795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11843 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11846 Neighboring gene small nucleolar RNA MBII-202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18850561-18851174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18851175-18851788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18864393-18865390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18866439-18866973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18866974-18867507 Neighboring gene solute carrier family 5 member 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18871247-18872190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18874077-18875018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18883844-18884799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18884800-18885754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18885755-18886709 Neighboring gene family with sequence similarity 83 member G Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8282

    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. Molecular cloning of a human cDNA for the 41-kDa phosphoribosylpyrophosphate synthetase-associated protein. Katashima R, et al. Biochim Biophys Acta, 1998 Mar 13. PMID 9545573
    2. Assignment of the human phosphoribosylpyrophosphate synthetase-associated protein 41 gene (PRPSAP2) to 17p11.2-p12. Katashima R, et al. Genomics, 1998 Nov 15. PMID 9806849
    3. Genome-wide association study of pancreatic cancer in Japanese population. Low SK, et al. PLoS One, 2010 Jul 29. PMID 20686608, Free PMC Article
    4. A novel functional role for MMSET in RNA processing based on the link between the REIIBP isoform and its interaction with the SMN complex. Mirabella F, et al. PLoS One, 2014. PMID 24923560, Free PMC Article
    5. TAPP2 links phosphoinositide 3-kinase signaling to B-cell adhesion through interaction with the cytoskeletal protein utrophin: expression of a novel cell adhesion-promoting complex in B-cell leukemia. Costantini JL, et al. Blood, 2009 Nov 19. PMID 19786618

    See all (56) 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 study of pancreatic cancer in Japanese population.
    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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    Markers

    Homology

    Clone Names

    • MGC117304, MGC126719, MGC126721

    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 bone development IEA
    Inferred from Electronic Annotation
    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 2
    Names
    41 kDa phosphoribosypyrophosphate synthetase-associated protein
    PRPP synthase-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_001243936.2 → NP_001230865.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks two in-frame exons in the coding region and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC090286, AI379788, AI955172, AK303911, BC106050, DA257655
      Consensus CDS
      CCDS58526.1
      UniProtKB/TrEMBL
      B2R7R5
      Related
      ENSP00000392536.2, ENST00000419071.6
      Conserved Domains (3) summary
      COG0462
      Location:42 → 323
      PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
      pfam13793
      Location:20 → 98
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
      pfam14572
      Location:139 → 323
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain

    2. NM_001243940.1 → NP_001230869.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001230869.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a shorter 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AI379788, AI955172, BC106050, BC143475, BX648850
      Consensus CDS
      CCDS58525.1
      UniProtKB/TrEMBL
      B2R7R5
      Related
      ENSP00000439129.1, ENST00000542013.5
      Conserved Domains (1) summary
      COG0462
      Location:18 → 314
      PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]

    3. NM_001243941.1 → NP_001230870.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001230870.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks an in-frame exon in the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. Variants 4 and 5 encode the same isoform (4), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AI379788, AI955172, AK304544, BC106050, DC424578
      Consensus CDS
      CCDS58527.1
      UniProtKB/Swiss-Prot
      O60256
      Related
      ENSP00000443967.1, ENST00000536323.5
      Conserved Domains (2) summary
      pfam14572
      Location:93 → 277
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:1 → 52
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    4. NM_001243942.1 → NP_001230871.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001230871.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks an in-frame exon in the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. Variants 4 and 5 encode the same isoform (4), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC107982, AI379788, AI955172, BC106050, BX648850, DA257655
      Consensus CDS
      CCDS58527.1
      UniProtKB/Swiss-Prot
      O60256
      Related
      ENSP00000481322.1, ENST00000610773.4
      Conserved Domains (2) summary
      pfam14572
      Location:93 → 277
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:1 → 52
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    5. NM_001353096.1 → NP_001340025.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      UniProtKB/TrEMBL
      B2R7R5
      Conserved Domains (2) summary
      pfam14572
      Location:134 → 318
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:1 → 93
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    6. NM_001353097.2 → NP_001340026.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      UniProtKB/TrEMBL
      B2R7R5
      Conserved Domains (2) summary
      pfam14572
      Location:134 → 318
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:1 → 93
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    7. NM_001353098.2 → NP_001340027.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      UniProtKB/TrEMBL
      B2R7R5
      Conserved Domains (2) summary
      pfam14572
      Location:233 → 417
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:74 → 192
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    8. NM_001353099.2 → NP_001340028.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      UniProtKB/TrEMBL
      B2R7R5
      Conserved Domains (2) summary
      pfam14572
      Location:134 → 318
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:1 → 93
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    9. NM_001353100.2 → NP_001340029.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      Consensus CDS
      CCDS58527.1
      Conserved Domains (2) summary
      pfam14572
      Location:93 → 277
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:1 → 52
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    10. NM_001353101.2 → NP_001340030.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      Consensus CDS
      CCDS11200.1
      UniProtKB/Swiss-Prot
      B4E1M8, B4E329, B7ZKZ1, E7EMY2, O60256, Q6IAS2
      UniProtKB/TrEMBL
      B2R7R5
      Conserved Domains (2) summary
      pfam14572
      Location:179 → 363
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:20 → 138
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    11. NM_001353102.2 → NP_001340031.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      Consensus CDS
      CCDS11200.1
      UniProtKB/Swiss-Prot
      B4E1M8, B4E329, B7ZKZ1, E7EMY2, O60256, Q6IAS2
      UniProtKB/TrEMBL
      B2R7R5
      Conserved Domains (2) summary
      pfam14572
      Location:179 → 363
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:20 → 138
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    12. NM_001353103.2 → NP_001340032.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      Consensus CDS
      CCDS58527.1
      Conserved Domains (2) summary
      pfam14572
      Location:93 → 277
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:1 → 52
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    13. NM_001353104.2 → NP_001340033.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      Consensus CDS
      CCDS58527.1
      Conserved Domains (2) summary
      pfam14572
      Location:93 → 277
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:1 → 52
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    14. NM_001353105.2 → NP_001340034.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      Consensus CDS
      CCDS11200.1
      UniProtKB/Swiss-Prot
      B4E1M8, B4E329, B7ZKZ1, E7EMY2, O60256, Q6IAS2
      UniProtKB/TrEMBL
      B2R7R5
      Conserved Domains (2) summary
      pfam14572
      Location:179 → 363
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:20 → 138
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    15. NM_001353106.2 → NP_001340035.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      Consensus CDS
      CCDS11200.1
      UniProtKB/Swiss-Prot
      B4E1M8, B4E329, B7ZKZ1, E7EMY2, O60256, Q6IAS2
      UniProtKB/TrEMBL
      B2R7R5
      Conserved Domains (2) summary
      pfam14572
      Location:179 → 363
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:20 → 138
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    16. NM_001353107.2 → NP_001340036.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC090286, AC107982
      Consensus CDS
      CCDS11200.1
      UniProtKB/Swiss-Prot
      B4E1M8, B4E329, B7ZKZ1, E7EMY2, O60256, Q6IAS2
      UniProtKB/TrEMBL
      B2R7R5
      Conserved Domains (2) summary
      pfam14572
      Location:179 → 363
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:20 → 138
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    17. NM_002767.4 → NP_002758.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

      See identical proteins and their annotated locations for NP_002758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC107982, AI379788, AI955172, BC106050, DC424578
      Consensus CDS
      CCDS11200.1
      UniProtKB/Swiss-Prot
      B4E1M8, B4E329, B7ZKZ1, E7EMY2, O60256, Q6IAS2
      UniProtKB/TrEMBL
      B2R7R5
      Related
      ENSP00000268835.2, ENST00000268835.7
      Conserved Domains (2) summary
      pfam14572
      Location:179 → 363
      Pribosyl_synth; Phosphoribosyl synthetase-associated domain
      pfam13793
      Location:20 → 138
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

    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
      18856299..18931287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436415.1 → XP_047292371.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X1

    2. XM_047436417.1 → XP_047292373.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X3

      Related
      ENSP00000399625.2, ENST00000432893.6

    3. XM_047436416.1 → XP_047292372.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      18802453..18877802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316693.1 → XP_054172668.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X1

    2. XM_054316695.1 → XP_054172670.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X3

    3. XM_054316694.1 → XP_054172669.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60256.1 GenPept UniProtKB/Swiss-Prot:O60256

    Gene LinkOut

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