Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5635
Gene name	Phosphoribosyl pyrophosphate synthetase associated protein 1
Gene symbol	PRPSAP1
Synonyms (NCBI Gene)	PAP39
Chromosome	17
Chromosome location	17q25.1

119

Show/Hide all (119)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021127	hsa-miR-186-5p	Sequencing	20371350
MIRT031682	hsa-miR-16-5p	Proteomics	18668040
MIRT031682	hsa-miR-16-5p	CLASH	23622248
MIRT039657	hsa-miR-615-3p	CLASH	23622248
MIRT039657	hsa-miR-615-3p	CLASH	23622248
MIRT661827	hsa-miR-5193	HITS-CLIP	23824327
MIRT661826	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT661825	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT661824	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT661823	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT661822	hsa-miR-6841-3p	HITS-CLIP	23824327
MIRT661821	hsa-miR-1915-5p	HITS-CLIP	23824327
MIRT661820	hsa-miR-378g	HITS-CLIP	23824327
MIRT661819	hsa-miR-4437	HITS-CLIP	23824327
MIRT661818	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT661817	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT661816	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT661815	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT661814	hsa-miR-4674	HITS-CLIP	23824327
MIRT661813	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT661827	hsa-miR-5193	HITS-CLIP	23824327
MIRT661826	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT661825	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT661824	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT661823	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT661822	hsa-miR-6841-3p	HITS-CLIP	23824327
MIRT661821	hsa-miR-1915-5p	HITS-CLIP	23824327
MIRT661820	hsa-miR-378g	HITS-CLIP	23824327
MIRT661819	hsa-miR-4437	HITS-CLIP	23824327
MIRT661818	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT661817	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT661816	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT661815	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT661814	hsa-miR-4674	HITS-CLIP	23824327
MIRT661813	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT1266073	hsa-miR-3182	CLIP-seq
MIRT1266074	hsa-miR-421	CLIP-seq
MIRT1266075	hsa-miR-4433	CLIP-seq
MIRT1266076	hsa-miR-4459	CLIP-seq
MIRT1266077	hsa-miR-4685-5p	CLIP-seq
MIRT1266078	hsa-miR-4768-3p	CLIP-seq
MIRT1266079	hsa-miR-626	CLIP-seq
MIRT1266074	hsa-miR-421	CLIP-seq
MIRT2078208	hsa-miR-455-5p	CLIP-seq
MIRT2078209	hsa-miR-4716-5p	CLIP-seq
MIRT2078210	hsa-miR-4764-3p	CLIP-seq
MIRT2078211	hsa-miR-550a	CLIP-seq
MIRT2078212	hsa-miR-7	CLIP-seq
MIRT2304670	hsa-miR-101	CLIP-seq
MIRT2304671	hsa-miR-144	CLIP-seq
MIRT2304672	hsa-miR-3065-5p	CLIP-seq
MIRT1266074	hsa-miR-421	CLIP-seq
MIRT2304673	hsa-miR-4272	CLIP-seq
MIRT2304674	hsa-miR-4444	CLIP-seq
MIRT2304675	hsa-miR-4645-5p	CLIP-seq
MIRT2304676	hsa-miR-4673	CLIP-seq
MIRT2304677	hsa-miR-4687-3p	CLIP-seq
MIRT2078210	hsa-miR-4764-3p	CLIP-seq
MIRT2304678	hsa-miR-508-5p	CLIP-seq
MIRT2601717	hsa-miR-1305	CLIP-seq
MIRT2601718	hsa-miR-194	CLIP-seq
MIRT2601719	hsa-miR-208a	CLIP-seq
MIRT2601720	hsa-miR-208b	CLIP-seq
MIRT1266073	hsa-miR-3182	CLIP-seq
MIRT2601721	hsa-miR-3189-3p	CLIP-seq
MIRT2601722	hsa-miR-362-5p	CLIP-seq
MIRT2601723	hsa-miR-3646	CLIP-seq
MIRT2601724	hsa-miR-3653	CLIP-seq
MIRT2601725	hsa-miR-3658	CLIP-seq
MIRT2601726	hsa-miR-3713	CLIP-seq
MIRT2601727	hsa-miR-3913-3p	CLIP-seq
MIRT2601728	hsa-miR-3942-3p	CLIP-seq
MIRT2601729	hsa-miR-3976	CLIP-seq
MIRT2601730	hsa-miR-3977	CLIP-seq
MIRT2601731	hsa-miR-4424	CLIP-seq
MIRT2601732	hsa-miR-4432	CLIP-seq
MIRT2601733	hsa-miR-4528	CLIP-seq
MIRT2078208	hsa-miR-455-5p	CLIP-seq
MIRT2304677	hsa-miR-4687-3p	CLIP-seq
MIRT2601734	hsa-miR-4762-3p	CLIP-seq
MIRT2078210	hsa-miR-4764-3p	CLIP-seq
MIRT2601735	hsa-miR-4766-5p	CLIP-seq
MIRT2601736	hsa-miR-489	CLIP-seq
MIRT2601737	hsa-miR-494	CLIP-seq
MIRT2601738	hsa-miR-499-5p	CLIP-seq
MIRT2601739	hsa-miR-500b	CLIP-seq
MIRT2078211	hsa-miR-550a	CLIP-seq
MIRT2601740	hsa-miR-579	CLIP-seq
MIRT1266079	hsa-miR-626	CLIP-seq
MIRT2078212	hsa-miR-7	CLIP-seq
MIRT2601717	hsa-miR-1305	CLIP-seq
MIRT2688727	hsa-miR-1470	CLIP-seq
MIRT2601718	hsa-miR-194	CLIP-seq
MIRT2601719	hsa-miR-208a	CLIP-seq
MIRT2601720	hsa-miR-208b	CLIP-seq
MIRT2601721	hsa-miR-3189-3p	CLIP-seq
MIRT2601722	hsa-miR-362-5p	CLIP-seq
MIRT2601723	hsa-miR-3646	CLIP-seq
MIRT2601727	hsa-miR-3913-3p	CLIP-seq
MIRT2601729	hsa-miR-3976	CLIP-seq
MIRT2601730	hsa-miR-3977	CLIP-seq
MIRT2601731	hsa-miR-4424	CLIP-seq
MIRT2601732	hsa-miR-4432	CLIP-seq
MIRT2688728	hsa-miR-4522	CLIP-seq
MIRT2601733	hsa-miR-4528	CLIP-seq
MIRT2078208	hsa-miR-455-5p	CLIP-seq
MIRT2688729	hsa-miR-4667-3p	CLIP-seq
MIRT2688730	hsa-miR-4684-5p	CLIP-seq
MIRT2304677	hsa-miR-4687-3p	CLIP-seq
MIRT2601734	hsa-miR-4762-3p	CLIP-seq
MIRT2078210	hsa-miR-4764-3p	CLIP-seq
MIRT2601735	hsa-miR-4766-5p	CLIP-seq
MIRT2601736	hsa-miR-489	CLIP-seq
MIRT2601737	hsa-miR-494	CLIP-seq
MIRT2601738	hsa-miR-499-5p	CLIP-seq
MIRT2601739	hsa-miR-500b	CLIP-seq
MIRT2078211	hsa-miR-550a	CLIP-seq
MIRT2601740	hsa-miR-579	CLIP-seq
MIRT2078212	hsa-miR-7	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0004857	Function	Enzyme inhibitor activity	TAS	8132556
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25910212, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0006015	Process	5-phosphoribose 1-diphosphate biosynthetic process	IBA
GO:0006139	Process	Nucleobase-containing compound metabolic process	TAS	8611620
GO:0006164	Process	Purine nucleotide biosynthetic process	IBA
GO:0009165	Process	Nucleotide biosynthetic process	IEA
GO:0030234	Function	Enzyme regulator activity	IBA
GO:0042802	Function	Identical protein binding	IPI	16189514, 19447967, 32296183

MIM	HGNC	e!Ensembl
601249	9466	ENSG00000161542

Q14558

Protein name

Phosphoribosyl pyrophosphate synthase-associated protein 1 (PRPP synthase-associated protein 1) (39 kDa phosphoribosypyrophosphate synthase-associated protein) (PAP39)

Protein function

Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.

PDB

2C4K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13793	Pribosyltran_N	9 → 126	N-terminal domain of ribose phosphate pyrophosphokinase	Domain
PF14572	Pribosyl_synth	167 → 350	Phosphoribosyl synthetase-associated domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MNAARTGYRVFSANSTAACTELAKRITERLGAELGKSVVYQETNGETRVEIKESVRGQDI
FIIQTIPRDVNTAVMELLIMAYALKTACARNIIGVIPYFPYSKQSKMRKRGSIVCKLLAS
MLAKAGLTHIITMDLHQKEIQGFFSFPVDNLRASPFLLQYIQEEIPNYRNAVIVAKSPDA
AKRAQSYAERLRLGLAVIHGEAQCTELDMDDGRHSPPMVKNATVHPGLELPLMMAKEKPP
ITVVGDVGGRIAIIVDDIIDDVESFVAAAEILKERGAYKIYVMATHGILSAEAPRLIEES
SVDEVVVTNTVPHEVQKLQCPKIKTVDISLILSEAIRRIHNGESMAYLFRNITVDD

Sequence length

356

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28732507	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	21594610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31469419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	31469419		★★★★★ ★☆☆☆☆ Found in Text Mining only

PRPSAP1 (phosphoribosyl pyrophosphate synthetase associated protein 1)