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	5636
Gene name	Phosphoribosyl pyrophosphate synthetase associated protein 2
Gene symbol	PRPSAP2
Synonyms (NCBI Gene)	PAP41
Chromosome	17
Chromosome location	17p11.2
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, trypto

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments
MIRT1266080	hsa-miR-1243	CLIP-seq
MIRT1266081	hsa-miR-1305	CLIP-seq
MIRT1266082	hsa-miR-144	CLIP-seq
MIRT1266083	hsa-miR-3654	CLIP-seq
MIRT1266084	hsa-miR-3691-3p	CLIP-seq
MIRT1266085	hsa-miR-378	CLIP-seq
MIRT1266086	hsa-miR-378b	CLIP-seq
MIRT1266087	hsa-miR-378c	CLIP-seq
MIRT1266088	hsa-miR-378d	CLIP-seq
MIRT1266089	hsa-miR-378e	CLIP-seq
MIRT1266090	hsa-miR-378f	CLIP-seq
MIRT1266091	hsa-miR-378h	CLIP-seq
MIRT1266092	hsa-miR-378i	CLIP-seq
MIRT1266093	hsa-miR-422a	CLIP-seq
MIRT1266094	hsa-miR-4645-3p	CLIP-seq
MIRT1266095	hsa-miR-4699-3p	CLIP-seq
MIRT1266096	hsa-miR-4724-3p	CLIP-seq
MIRT1266097	hsa-miR-4729	CLIP-seq
MIRT1266098	hsa-miR-4762-5p	CLIP-seq
MIRT1266099	hsa-miR-520d-5p	CLIP-seq
MIRT1266100	hsa-miR-524-5p	CLIP-seq
MIRT1266101	hsa-miR-548ad	CLIP-seq
MIRT1266102	hsa-miR-607	CLIP-seq
MIRT1266103	hsa-miR-616	CLIP-seq
MIRT1266104	hsa-miR-758	CLIP-seq
MIRT1266105	hsa-miR-935	CLIP-seq
MIRT1266081	hsa-miR-1305	CLIP-seq
MIRT2078213	hsa-miR-298	CLIP-seq
MIRT2078214	hsa-miR-3678-3p	CLIP-seq
MIRT2601741	hsa-miR-1224-3p	CLIP-seq
MIRT2601742	hsa-miR-1260	CLIP-seq
MIRT2601743	hsa-miR-1260b	CLIP-seq
MIRT2601744	hsa-miR-1280	CLIP-seq
MIRT2601745	hsa-miR-1291	CLIP-seq
MIRT2601746	hsa-miR-1294	CLIP-seq
MIRT1266081	hsa-miR-1305	CLIP-seq
MIRT2601747	hsa-miR-1321	CLIP-seq
MIRT2601748	hsa-miR-142-5p	CLIP-seq
MIRT1266082	hsa-miR-144	CLIP-seq
MIRT2601749	hsa-miR-145	CLIP-seq
MIRT2601750	hsa-miR-1914	CLIP-seq
MIRT2601751	hsa-miR-24	CLIP-seq
MIRT2601752	hsa-miR-3119	CLIP-seq
MIRT2601753	hsa-miR-3150b-3p	CLIP-seq
MIRT2601754	hsa-miR-3175	CLIP-seq
MIRT2601755	hsa-miR-3180-5p	CLIP-seq
MIRT2601756	hsa-miR-328	CLIP-seq
MIRT2601757	hsa-miR-3614-5p	CLIP-seq
MIRT2601758	hsa-miR-3653	CLIP-seq
MIRT2601759	hsa-miR-3665	CLIP-seq
MIRT2601760	hsa-miR-3928	CLIP-seq
MIRT2601761	hsa-miR-4274	CLIP-seq
MIRT2601762	hsa-miR-4284	CLIP-seq
MIRT2601763	hsa-miR-4307	CLIP-seq
MIRT2601764	hsa-miR-4419a	CLIP-seq
MIRT2601765	hsa-miR-4477a	CLIP-seq
MIRT2601766	hsa-miR-4503	CLIP-seq
MIRT2601767	hsa-miR-4510	CLIP-seq
MIRT2601768	hsa-miR-4639-3p	CLIP-seq
MIRT1266094	hsa-miR-4645-3p	CLIP-seq
MIRT2601769	hsa-miR-4704-3p	CLIP-seq
MIRT1266096	hsa-miR-4724-3p	CLIP-seq
MIRT2601770	hsa-miR-4739	CLIP-seq
MIRT2601771	hsa-miR-4756-5p	CLIP-seq
MIRT2601772	hsa-miR-4778-3p	CLIP-seq
MIRT2601773	hsa-miR-4784	CLIP-seq
MIRT2601774	hsa-miR-485-3p	CLIP-seq
MIRT2601775	hsa-miR-487a	CLIP-seq
MIRT2601776	hsa-miR-5095	CLIP-seq
MIRT1266101	hsa-miR-548ad	CLIP-seq
MIRT2601777	hsa-miR-561	CLIP-seq
MIRT2601778	hsa-miR-583	CLIP-seq
MIRT2601779	hsa-miR-601	CLIP-seq
MIRT1266102	hsa-miR-607	CLIP-seq
MIRT2601780	hsa-miR-657	CLIP-seq
MIRT2601781	hsa-miR-668	CLIP-seq
MIRT1266081	hsa-miR-1305	CLIP-seq
MIRT1266096	hsa-miR-4724-3p	CLIP-seq
MIRT1266101	hsa-miR-548ad	CLIP-seq
MIRT2601778	hsa-miR-583	CLIP-seq
MIRT1266102	hsa-miR-607	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0004857	Function	Enzyme inhibitor activity	TAS	9545573
GO:0005515	Function	Protein binding	IPI	26496610, 28514442, 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	9545573
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	32296183
GO:0060348	Process	Bone development	IEA

MIM	HGNC	e!Ensembl
603762	9467	ENSG00000141127

O60256

Protein name

Phosphoribosyl pyrophosphate synthase-associated protein 2 (PRPP synthase-associated protein 2) (41 kDa phosphoribosypyrophosphate synthetase-associated protein) (PAP41)

Protein function

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

PDB

2JI4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13793	Pribosyltran_N	20 → 138	N-terminal domain of ribose phosphate pyrophosphokinase	Domain
PF14572	Pribosyl_synth	179 → 363	Phosphoribosyl synthetase-associated domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETR
VQIQESVRGKDVFIIQTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMR
KRGSIVSKLLASMMCKAGLTHLITMDLHQKEIQGFFNIPVDNLRASPFLLQYIQEEIPDY
RNAVIVAKSPASAKRAQSFAERLRLGIAVIHGEAQDAESDLVDGRHSPPMVRSVAAIHPS
LEIPMLIPKEKPPITVVGDVGGRIAIIVDDIIDDVDSFLAAAETLKERGAYKIFVMATHG
LLSSDAPRRIEESAIDEVVVTNTIPHEVQKLQCPKIKTVDISMILSEAIRRIHNGESMSY
LFRNIGLDD

Sequence length

369

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 (2)

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
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Epilepsy Generalized	Associate	40495522	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malocclusion	Associate	38353502	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	22292074	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRPSAP2 (phosphoribosyl pyrophosphate synthetase associated protein 2)