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

Gene ID: 5636, updated on 7-Jul-2019

Summary

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
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

Genomic context

See PRPSAP2 in Genome Data Viewer
Location:
17p11.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (18856299..18931287)
105 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 coiled-coil domain-containing protein 144B-like Neighboring gene RNA, 7SL, cytoplasmic 627, pseudogene Neighboring gene RAN binding protein 1 pseudogene Neighboring gene solute carrier family 5 member 10 Neighboring gene family with sequence similarity 83 member G Neighboring gene GRB2 related adaptor protein

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117304, MGC126719, MGC126721

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme inhibitor activity TAS
Traceable Author Statement
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 
bone development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
nucleoside metabolic process IEA
Inferred from Electronic Annotation
more info
 
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 2
Names
41 kDa phosphoribosypyrophosphate synthetase-associated protein
PRPP synthase-associated protein 2

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_001243936.2NP_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/Swiss-Prot
    O60256
    Related
    ENSP00000392536.2, ENST00000419071.6
    Conserved Domains (3) summary
    COG0462
    Location:42323
    PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
    pfam13793
    Location:2098
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    pfam14572
    Location:139323
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
  2. NM_001243940.1NP_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/Swiss-Prot
    O60256
    Related
    ENSP00000439129.1, ENST00000542013.5
    Conserved Domains (1) summary
    COG0462
    Location:18314
    PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
  3. NM_001243941.1NP_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:93277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  4. NM_001243942.1NP_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:93277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  5. NM_001353096.1NP_001340025.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC090286, AC107982
    Conserved Domains (2) summary
    pfam14572
    Location:134318
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:193
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  6. NM_001353097.2NP_001340026.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC090286, AC107982
    Conserved Domains (2) summary
    pfam14572
    Location:134318
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:193
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  7. NM_001353098.2NP_001340027.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC090286, AC107982
    Conserved Domains (2) summary
    pfam14572
    Location:233417
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:74192
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  8. NM_001353099.2NP_001340028.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC090286, AC107982
    Conserved Domains (2) summary
    pfam14572
    Location:134318
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:193
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  9. NM_001353100.2NP_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:93277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  10. NM_001353101.2NP_001340030.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC090286, AC107982
    Consensus CDS
    CCDS11200.1
    Conserved Domains (2) summary
    pfam14572
    Location:179363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:20138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  11. NM_001353102.2NP_001340031.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC090286, AC107982
    Consensus CDS
    CCDS11200.1
    Conserved Domains (2) summary
    pfam14572
    Location:179363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:20138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  12. NM_001353103.2NP_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:93277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  13. NM_001353104.2NP_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:93277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  14. NM_001353105.2NP_001340034.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC090286, AC107982
    Consensus CDS
    CCDS11200.1
    Conserved Domains (2) summary
    pfam14572
    Location:179363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:20138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  15. NM_001353106.2NP_001340035.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC090286, AC107982
    Consensus CDS
    CCDS11200.1
    Conserved Domains (2) summary
    pfam14572
    Location:179363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:20138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  16. NM_001353107.2NP_001340036.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC090286, AC107982
    Consensus CDS
    CCDS11200.1
    Conserved Domains (2) summary
    pfam14572
    Location:179363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:20138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  17. NM_002767.4NP_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
    O60256
    UniProtKB/TrEMBL
    A0A024QYY3
    Related
    ENSP00000268835.2, ENST00000268835.7
    Conserved Domains (2) summary
    pfam14572
    Location:179363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:20138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017024866.2XP_016880355.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X1

    UniProtKB/Swiss-Prot
    O60256
    UniProtKB/TrEMBL
    A0A024QYY3
    Conserved Domains (2) summary
    pfam14572
    Location:179363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:20138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  2. XM_017024873.2XP_016880362.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X2

    UniProtKB/Swiss-Prot
    O60256
    Conserved Domains (2) summary
    pfam14572
    Location:93277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  3. XM_017024865.2XP_016880354.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X1

    UniProtKB/Swiss-Prot
    O60256
    UniProtKB/TrEMBL
    A0A024QYY3
    Conserved Domains (2) summary
    pfam14572
    Location:179363
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:20138
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  4. XM_017024871.2XP_016880360.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X2

    UniProtKB/Swiss-Prot
    O60256
    Conserved Domains (2) summary
    pfam14572
    Location:93277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  5. XM_017024874.2XP_016880363.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X2

    UniProtKB/Swiss-Prot
    O60256
    Conserved Domains (2) summary
    pfam14572
    Location:93277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
  6. XM_017024875.2XP_016880364.1  phosphoribosyl pyrophosphate synthase-associated protein 2 isoform X2

    UniProtKB/Swiss-Prot
    O60256
    Conserved Domains (2) summary
    pfam14572
    Location:93277
    Pribosyl_synth; Phosphoribosyl synthetase-associated domain
    pfam13793
    Location:152
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

RNA

  1. XR_001752567.2 RNA Sequence

  2. XR_934068.2 RNA Sequence

  3. XR_001752568.2 RNA Sequence

    Related
    ENST00000492129.5
  4. XR_001752569.2 RNA Sequence

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