VPS51

Summary

VPS51 (VPS51 subunit of GARP complex, HGNC:1172) is a protein-coding gene on chromosome 11q13.1, encoding Vacuolar protein sorting-associated protein 51 homolog (Q9UID3). Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). It is a selective cancer dependency (DepMap: 67.3% of cell lines).

This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 738 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pontocerebellar hypoplasia, type 13 (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 179 total — 3 pathogenic
• Phenotypes (HPO): 40
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 67.3% of screened cell lines
• MANE Select transcript: NM_013265

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1172
Approved symbol	VPS51
Name	VPS51 subunit of GARP complex
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	ANG2, ANG3, FFR
Ensembl gene	ENSG00000149823
Ensembl biotype	protein_coding
OMIM	615738
Entrez	738

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 9 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000279281, ENST00000526578, ENST00000526856, ENST00000527646, ENST00000528050, ENST00000528588, ENST00000529180, ENST00000530673, ENST00000530773, ENST00000531146, ENST00000533487, ENST00000533656, ENST00000533827, ENST00000534124, ENST00000534557, ENST00000534591, ENST00000940630

RefSeq mRNA: 1 — MANE Select: NM_013265 NM_013265

CCDS: CCDS8093

Canonical transcript exons

ENST00000279281 — 10 exons

Exon	Start	End
ENSE00002141385	65096214	65096478
ENSE00002157637	65111327	65111862
ENSE00003545024	65110482	65110603
ENSE00003547773	65110694	65110781
ENSE00003553362	65108197	65108914
ENSE00003565517	65109280	65109495
ENSE00003616732	65096998	65097127
ENSE00003630177	65107803	65108022
ENSE00003642338	65109705	65109923
ENSE00003668225	65107581	65107727

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 98.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 75.6544 / max 577.5233, expressed in 1823 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115025	75.6544	1823

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	98.41	gold quality
cortical plate	UBERON:0005343	98.31	gold quality
apex of heart	UBERON:0002098	98.22	gold quality
left ovary	UBERON:0002119	98.15	gold quality
right ovary	UBERON:0002118	97.85	gold quality
skin of leg	UBERON:0001511	97.82	gold quality
body of stomach	UBERON:0001161	97.63	gold quality
skin of abdomen	UBERON:0001416	97.55	gold quality
ganglionic eminence	UBERON:0004023	97.55	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.49	gold quality
cerebellar cortex	UBERON:0002129	97.48	gold quality
cerebellar hemisphere	UBERON:0002245	97.48	gold quality
mucosa of transverse colon	UBERON:0004991	97.42	gold quality
prefrontal cortex	UBERON:0000451	97.40	gold quality
mucosa of stomach	UBERON:0001199	97.32	gold quality
right lobe of thyroid gland	UBERON:0001119	97.31	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.29	gold quality
zone of skin	UBERON:0000014	97.25	gold quality
cerebellum	UBERON:0002037	97.21	gold quality
transverse colon	UBERON:0001157	97.18	gold quality
body of uterus	UBERON:0009853	97.00	gold quality
stomach	UBERON:0000945	96.98	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.92	gold quality
stromal cell of endometrium	CL:0002255	96.87	gold quality
parotid gland	UBERON:0001831	96.87	gold quality
right frontal lobe	UBERON:0002810	96.85	gold quality
granulocyte	CL:0000094	96.83	gold quality
left lobe of thyroid gland	UBERON:0001120	96.83	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.81	gold quality
popliteal artery	UBERON:0002250	96.78	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.45
E-MTAB-6058	no	122.49
E-HCAD-5	no	2.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

4 targeting VPS51, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-342-5P	97.25	64.10	817

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 67.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• Ang2 is the missing component of the Golgi-associated retrograde protein complex in most eukaryotes. (PMID:20685960)
• A dityrosine motif of Ang2 interacts with a highly conserved groove in Syntaxin 6. (PMID:23932592)
• This observation supports a pathogenic effect of VPS51 variants, which has only been reported previously once, in a single child with microcephaly. It confirms the key role of membrane trafficking in normal brain development and homeostasis. (PMID:31207318)
• Soluble fms-like tyrosine kinase-1 and angiotensin2 target calcitonin gene-related peptide family peptides in maternal vascular smooth muscle cells in pregnancydagger. (PMID:33624744)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	vps51	ENSDARG00000062016
mus_musculus	Vps51	ENSMUSG00000024797
rattus_norvegicus	Vps51	ENSRNOG00000020996
drosophila_melanogaster	Vps51	FBGN0034380
caenorhabditis_elegans	vps-51	WBGENE00015176

Protein

Protein identifiers

Vacuolar protein sorting-associated protein 51 homolog — Q9UID3 (reviewed: Q9UID3)

Alternative names: Another new gene 2 protein, Protein fat-free homolog

All UniProt accessions (11): Q9UID3, E9PJ36, E9PKE5, E9PKX7, E9PMB6, E9PQD5, E9PQN6, E9PRV0, H0YCB7, H0YDX9, H0YEE1

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN. Acts as a component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane.

Subunit / interactions. Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54. Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and VPS50/Syndetin. EIPR1 interacts with both EARP and GARP complexes and mediates the recruitment of the GARP complex to the trans-Golgi network. Interacts with STX6 (via N-terminus). Interacts with VPS50 and VPS54 in an EIPR1-independent manner.

Subcellular location. Golgi apparatus. trans-Golgi network. Recycling endosome.

Disease relevance. Pontocerebellar hypoplasia 13 (PCH13) [MIM:618606] A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH13 is an autosomal recessive form characterized by delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy and hypoplastic corpus callosum. Additional features, including seizures and visual impairment, are variable. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the VPS51 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UID3-1	1	yes
Q9UID3-2	2

RefSeq proteins (1): NP_037397* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR014812	Vps51	Family
IPR016159	Cullin_repeat-like_dom_sf	Homologous_superfamily

Pfam: PF08700

UniProt features (14 total): modified residue 4, sequence variant 2, coiled-coil region 2, initiator methionine 1, chain 1, splice variant 1, helix 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4J2C	X-RAY DIFFRACTION	1.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UID3-F1	81.07	0.41

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 2, 18, 44, 649

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6811440	Retrograde transport at the Trans-Golgi-Network

MSigDB gene sets: 284 (showing top): GOBP_LYSOSOMAL_TRANSPORT, GOBP_PROTEIN_TARGETING, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, chr11q13, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOCC_TRANS_GOLGI_NETWORK, ZHAN_MULTIPLE_MYELOMA_HP_UP, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, WINTER_HYPOXIA_METAGENE, GOBP_HEAD_DEVELOPMENT, GOBP_ENDOCYTIC_RECYCLING, GOBP_STEROL_TRANSPORT

GO Biological Process (11): protein targeting (GO:0006605), autophagy (GO:0006914), Golgi organization (GO:0007030), lysosomal transport (GO:0007041), protein transport (GO:0015031), endocytic recycling (GO:0032456), retrograde transport, endosome to Golgi (GO:0042147), Golgi vesicle transport (GO:0048193), brain morphogenesis (GO:0048854), vesicle-mediated cholesterol transport (GO:0090119), lipid transport (GO:0006869)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (10): GARP complex (GO:0000938), nucleolus (GO:0005730), Golgi apparatus (GO:0005794), cytosol (GO:0005829), membrane (GO:0016020), trans-Golgi network membrane (GO:0032588), recycling endosome (GO:0055037), EARP complex (GO:1990745), endosome (GO:0005768), trans-Golgi network (GO:0005802)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
establishment of protein localization	2
transport	2
endosomal transport	2
cytosolic transport	2
vesicle-mediated transport	2
cytoplasmic vesicle	2
cytoplasm	2
endomembrane system	2
cellular anatomical structure	2
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
organelle organization	1
endomembrane system organization	1
vacuolar transport	1
intracellular protein localization	1
vesicle-mediated transport to the plasma membrane	1
intercellular transport	1
brain development	1
animal organ morphogenesis	1
intracellular cholesterol transport	1
lipid localization	1
binding	1
Golgi apparatus	1
vesicle tethering complex	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1
trans-Golgi network	1
organelle membrane	1
endosome	1
protein-containing complex	1
recycling endosome	1
Golgi apparatus subcompartment	1

Protein interactions and networks

STRING

1278 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VPS51	VPS54	Q9P1Q0	997
VPS51	VPS53	Q5VIR6	997
VPS51	VPS52	Q8N1B4	997
VPS51	VPS50	Q96JG6	794
VPS51	STX16	O14662	769
VPS51	TEK	Q02763	759
VPS51	TIE1	P35590	711
VPS51	COG1	Q8WTW3	656
VPS51	COG8	Q96MW5	644
VPS51	STX6	O43752	630
VPS51	COG5	Q9UP83	625
VPS51	COG7	P83436	591
VPS51	VPS45	Q9NRW7	591
VPS51	EIPR1	Q53HC9	590
VPS51	COG4	Q9H9E3	588

IntAct

137 interactions, top by confidence:

A	B	Type	Score
ODAD1	HGS	psi-mi:“MI:0914”(association)	0.850
VPS50	EIPR1	psi-mi:“MI:0914”(association)	0.730
SLC16A3	CASK	psi-mi:“MI:0914”(association)	0.590
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
NUP62	RGPD8	psi-mi:“MI:0914”(association)	0.530
EIPR1	LDHC	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
KXD1	TRAK2	psi-mi:“MI:0914”(association)	0.530
EIPR1	TCP1	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
EXOC4	EXOC5	psi-mi:“MI:0914”(association)	0.510
VPS51	UGGT1	psi-mi:“MI:0915”(physical association)	0.400
VPS51	FXR1	psi-mi:“MI:0915”(physical association)	0.370
MLH1	VPS51	psi-mi:“MI:0915”(physical association)	0.370
CDKN1A	VPS51	psi-mi:“MI:0915”(physical association)	0.370
VPS51	YTHDC1	psi-mi:“MI:0915”(physical association)	0.370
VPS51	GSK3B	psi-mi:“MI:0915”(physical association)	0.370
VPS51	NUDT3	psi-mi:“MI:0915”(physical association)	0.370
Arrb2	TCOF1	psi-mi:“MI:0914”(association)	0.350
ETS2	ANKS6	psi-mi:“MI:0914”(association)	0.350
VPS50	PHF20L1	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
MAK	CNOT1	psi-mi:“MI:0914”(association)	0.350
	AGPS	psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
LURAP1	CIBAR1	psi-mi:“MI:0914”(association)	0.350

BioGRID (243): VPS51 (Affinity Capture-MS), VPS51 (Affinity Capture-MS), VPS51 (Affinity Capture-MS), VPS51 (Affinity Capture-MS), VPS51 (Affinity Capture-MS), VPS51 (Co-fractionation), VPS51 (Co-fractionation), VPS51 (Affinity Capture-MS), VPS51 (Proximity Label-MS), VPS51 (Proximity Label-MS), VPS51 (Affinity Capture-MS), VPS51 (Affinity Capture-MS), VPS51 (Affinity Capture-MS), VPS51 (Affinity Capture-MS), VPS51 (Synthetic Lethality)

ESM2 similar proteins: A0JPP1, A1A4I4, A1A5B6, A4K436, A6QQ14, A6QQ47, C5IJB0, E1BSW7, O00459, O04173, O08908, O14908, O35465, P23726, P70268, Q12962, Q14318, Q14657, Q14919, Q16512, Q17QX2, Q1JQD7, Q32NY4, Q3B7U9, Q3MII6, Q3V1H9, Q496Y0, Q4R4E4, Q5C9Z4, Q5RE34, Q5XIU9, Q5ZIW1, Q63433, Q63788, Q6K461, Q6PZ03, Q6ZT62, Q7Z6J2, Q8CFK2, Q8HXH0

Diamond homologs: A6QQ47, Q155U0, Q3UVL4, Q4V9Y0, Q505L3, Q5ZJ25, Q8MSY4, Q9UID3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 177 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
Golgi to plasma membrane transport	5	18.0×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

179 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	139
Likely benign	14
Benign	3

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
691588	NM_013265.4(VPS51):c.2232del (p.Asp745fs)	Pathogenic
691589	NM_013265.4(VPS51):c.1468C>T (p.Arg490Cys)	Pathogenic
691590	NM_013265.4(VPS51):c.1421_1423del (p.Phe474del)	Pathogenic

SpliceAI

1600 predictions. Top by Δscore:

Variant	Effect	Δscore
11:65096461:G:GT	donor_gain	1.0000
11:65096476:AAGG:A	donor_loss	1.0000
11:65096477:AGGT:A	donor_loss	1.0000
11:65097123:CACAG:C	donor_loss	1.0000
11:65097124:ACAG:A	donor_loss	1.0000
11:65097125:CAG:C	donor_loss	1.0000
11:65097126:AGG:A	donor_loss	1.0000
11:65097127:GG:G	donor_loss	1.0000
11:65097128:G:C	donor_loss	1.0000
11:65107564:C:A	acceptor_gain	1.0000
11:65107570:T:A	acceptor_gain	1.0000
11:65107577:CTAG:C	acceptor_loss	1.0000
11:65107579:A:AC	acceptor_loss	1.0000
11:65107579:A:AG	acceptor_gain	1.0000
11:65107580:G:GA	acceptor_gain	1.0000
11:65107580:GA:G	acceptor_gain	1.0000
11:65107580:GAC:G	acceptor_gain	1.0000
11:65107580:GACA:G	acceptor_gain	1.0000
11:65107580:GACAC:G	acceptor_gain	1.0000
11:65107725:CAGGT:C	donor_loss	1.0000
11:65107726:AGGTG:A	donor_loss	1.0000
11:65107727:GG:G	donor_loss	1.0000
11:65107728:GTGG:G	donor_loss	1.0000
11:65107729:T:A	donor_loss	1.0000
11:65107799:CCA:C	acceptor_loss	1.0000
11:65107800:CAGG:C	acceptor_loss	1.0000
11:65107801:A:AC	acceptor_loss	1.0000
11:65107801:A:AG	acceptor_gain	1.0000
11:65107801:AG:A	acceptor_gain	1.0000
11:65107801:AGG:A	acceptor_gain	1.0000

AlphaMissense

5028 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:65097089:T:C	L107P	1.000
11:65097092:T:A	V108D	1.000
11:65097100:A:G	N111D	1.000
11:65097101:A:G	N111S	1.000
11:65097101:A:T	N111I	1.000
11:65097102:C:A	N111K	1.000
11:65097102:C:G	N111K	1.000
11:65097112:T:A	F115I	1.000
11:65097112:T:C	F115L	1.000
11:65097113:T:C	F115S	1.000
11:65097113:T:G	F115C	1.000
11:65097114:C:A	F115L	1.000
11:65097114:C:G	F115L	1.000
11:65097116:T:A	I116N	1.000
11:65097116:T:C	I116T	1.000
11:65097121:G:C	A118P	1.000
11:65097122:C:A	A118D	1.000
11:65107587:T:A	I122N	1.000
11:65107590:G:C	R123P	1.000
11:65107596:T:A	M125K	1.000
11:65107596:T:C	M125T	1.000
11:65107596:T:G	M125R	1.000
11:65109795:G:C	G584R	1.000
11:65109825:A:C	S594R	1.000
11:65109827:C:A	S594R	1.000
11:65109827:C:G	S594R	1.000
11:65109843:T:A	W600R	1.000
11:65109843:T:C	W600R	1.000
11:65109845:G:C	W600C	1.000
11:65109845:G:T	W600C	1.000

dbSNP variants (sampled 300 via entrez): RS1000178121 (11:65110168 C>T), RS1000295040 (11:65106581 C>G), RS1000323438 (11:65099145 A>G), RS1000517283 (11:65098027 A>C), RS1000562482 (11:65104707 T>A,G), RS1000590420 (11:65099457 G>T), RS1000630978 (11:65105261 C>G,T), RS1000663400 (11:65105584 C>G), RS1000768430 (11:65105023 C>A), RS1000959415 (11:65098678 T>C), RS1001056067 (11:65097575 G>A), RS1001208514 (11:65105514 A>G), RS1001261572 (11:65106114 G>A), RS1001443436 (11:65106765 AGAAT>A), RS1001476816 (11:65097888 T>A)

Disease associations

OMIM: gene MIM:615738 | disease phenotypes: MIM:618606

GenCC curated gene-disease

Disease	Classification	Inheritance
pontocerebellar hypoplasia, type 13	Moderate	Autosomal recessive

Mondo (1): pontocerebellar hypoplasia, type 13 (MONDO:0032831)

Orphanet (1): Pontocerebellar hypoplasia type 13 (Orphanet:613267)

HPO phenotypes

40 total (30 of 40 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000215	Thick upper lip vermilion
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000396	Overfolded helix
HP:0000463	Anteverted nares
HP:0000486	Strabismus
HP:0000527	Long eyelashes
HP:0000954	Single transverse palmar crease
HP:0000969	Edema
HP:0001217	Clubbing
HP:0001290	Generalized hypotonia
HP:0001305	Dandy-Walker malformation
HP:0001320	Cerebellar vermis hypoplasia
HP:0001410	Decreased liver function
HP:0001508	Failure to thrive
HP:0001572	Macrodontia
HP:0002019	Constipation
HP:0002066	Gait ataxia
HP:0002079	Hypoplasia of the corpus callosum
HP:0002099	Asthma
HP:0002133	Status epilepticus
HP:0002162	Low posterior hairline
HP:0002202	Pleural effusion
HP:0002205	Recurrent respiratory infections
HP:0002280	Enlarged cisterna magna

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010512_15	Serum uric acid levels	5.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004761	uric acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067326 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.28	Kd	5201	nM	CHEMBL3752910
5.28	ED50	5201	nM	CHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149962: Binding affinity to human VPS51 incubated for 45 mins by Kinobead based pull down assay	kd	5.2014	uM

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
TAK-243	increases sumoylation	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
tetrabromobisphenol A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Cadmium	increases abundance, increases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Smoke	decreases expression	1
Valproic Acid	decreases expression, increases methylation	1
Aflatoxin B1	decreases expression, decreases methylation	1
Sodium Selenite	increases expression	1
Cadmium Chloride	increases abundance, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5653004	Binding	Binding affinity to human VPS51 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TX67	HAP1 VPS51 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.