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

Gene ID: 5636, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18856299..18931287)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18802453..18877802)
105.20220307 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. 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
  2. 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
  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 (52) 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)

Genotypes

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 ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables enzyme inhibitor activity TAS
Traceable Author Statement
more info
 PubMed 
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 
enables ribose phosphate diphosphokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
part_of ribose phosphate diphosphokinase complex 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_2023_10

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

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