MPDU1

Summary

MPDU1 (mannose-P-dolichol utilization defect 1, HGNC:7207) is a protein-coding gene on chromosome 17p13.1, encoding Mannose-P-dolichol utilization defect 1 protein (O75352). Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.

This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9526 — RefSeq curated summary.

At a glance

• Gene–disease (curated): MPDU1-congenital disorder of glycosylation (Definitive, ClinGen)
• GWAS associations: 4
• Clinical variants (ClinVar): 128 total — 2 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 44
• Druggable target: yes
• MANE Select transcript: NM_004870

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7207
Approved symbol	MPDU1
Name	mannose-P-dolichol utilization defect 1
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	SL15, Lec35, PQLC5, CDGIf, SLC66A5
Ensembl gene	ENSG00000129255
Ensembl biotype	protein_coding
OMIM	604041
Entrez	9526

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 18 protein_coding, 11 nonsense_mediated_decay, 8 retained_intron

ENST00000250124, ENST00000359822, ENST00000396501, ENST00000423172, ENST00000570458, ENST00000571391, ENST00000571822, ENST00000571877, ENST00000572719, ENST00000572836, ENST00000572936, ENST00000574558, ENST00000575256, ENST00000576066, ENST00000576272, ENST00000577088, ENST00000578267, ENST00000579445, ENST00000580708, ENST00000580834, ENST00000581380, ENST00000581886, ENST00000582151, ENST00000584378, ENST00000584479, ENST00000585188, ENST00000585217, ENST00000853387, ENST00000853388, ENST00000853389, ENST00000853390, ENST00000853391, ENST00000915185, ENST00000915186, ENST00000915187, ENST00000915188, ENST00000915189

RefSeq mRNA: 2 — MANE Select: NM_004870 NM_001330073, NM_004870

CCDS: CCDS11115, CCDS82054

Canonical transcript exons

ENST00000250124 — 7 exons

Exon	Start	End
ENSE00001297533	7587426	7588212
ENSE00003526443	7586692	7586777
ENSE00003529755	7587161	7587271
ENSE00003599463	7583852	7583965
ENSE00003620237	7585946	7586078
ENSE00003674997	7586899	7587017
ENSE00003680737	7585732	7585797

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 97.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.5189 / max 230.3126, expressed in 1813 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159278	42.5189	1813

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
rectum	UBERON:0001052	97.22	gold quality
mucosa of transverse colon	UBERON:0004991	97.09	gold quality
islet of Langerhans	UBERON:0000006	97.03	gold quality
right lobe of liver	UBERON:0001114	96.48	gold quality
right adrenal gland cortex	UBERON:0035827	96.22	gold quality
right adrenal gland	UBERON:0001233	96.17	gold quality
left adrenal gland	UBERON:0001234	95.67	gold quality
left adrenal gland cortex	UBERON:0035825	95.52	gold quality
granulocyte	CL:0000094	95.38	gold quality
metanephros cortex	UBERON:0010533	95.28	gold quality
gall bladder	UBERON:0002110	95.12	gold quality
body of stomach	UBERON:0001161	94.81	gold quality
ganglionic eminence	UBERON:0004023	94.72	gold quality
adrenal gland	UBERON:0002369	94.56	gold quality
adrenal cortex	UBERON:0001235	94.41	gold quality
monocyte	CL:0000576	94.19	gold quality
transverse colon	UBERON:0001157	94.04	gold quality
right lobe of thyroid gland	UBERON:0001119	93.90	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.90	gold quality
lower esophagus mucosa	UBERON:0035834	93.88	gold quality
upper lobe of left lung	UBERON:0008952	93.84	gold quality
leukocyte	CL:0000738	93.76	gold quality
mononuclear cell	CL:0000842	93.72	gold quality
ventricular zone	UBERON:0003053	93.66	gold quality
apex of heart	UBERON:0002098	93.59	gold quality
adrenal tissue	UBERON:0018303	93.58	gold quality
stomach	UBERON:0000945	93.53	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.52	gold quality
body of pancreas	UBERON:0001150	93.49	gold quality
left lobe of thyroid gland	UBERON:0001120	93.42	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-4850	no	155.17
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors. (PMID:22363504)
• These experiments also confirmed that protein levels of CEACAM-1, which functions in cell adhesion, is dependent on LLO biosynthesis in vivo. Kato III cells and the MPDU1-rescued Kato IIIM cells therefore provide a novel model to examine the consequences of defective LLO biosynthesis both in vitro and in vivo. (PMID:29671116)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mpdu1a	ENSDARG00000035562
danio_rerio	mpdu1b	ENSDARG00000040265
mus_musculus	Mpdu1	ENSMUSG00000018761
rattus_norvegicus	Mpdu1	ENSRNOG00000012162
drosophila_melanogaster	CG3792	FBGN0031662
caenorhabditis_elegans		WBGENE00018181

Paralogs (1): SLC66A3 (ENSG00000162976)

Protein

Protein identifiers

Mannose-P-dolichol utilization defect 1 protein — O75352 (reviewed: O75352)

Alternative names: Suppressor of Lec15 and Lec35 glycosylation mutation homolog

All UniProt accessions (15): O75352, A0A0S2Z4W8, I3L1D2, I3L261, I3L295, I3L405, I3L4E0, I3L4T1, J3KSI4, J3KT75, J3KTK8, J3QQZ4, J3QRD5, J3QS48, J3QW43

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.

Subcellular location. Membrane.

Disease relevance. Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180] A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the MPDU1 (TC 2.A.43.3) family.

Isoforms (2)

UniProt ID	Names	Canonical?
O75352-1	1	yes
O75352-2	2

RefSeq proteins (2): NP_001317002, NP_004861* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006603	PQ-loop_rpt	Repeat
IPR016817	MannP-dilichol_defect-1	Family

Pfam: PF04193

UniProt features (21 total): transmembrane region 7, sequence variant 5, domain 2, splice variant 2, sequence conflict 2, initiator methionine 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75352-F1	88.57	0.68

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 (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4687000	Defective MPDU1 causes CDG-1f
R-HSA-1643685	Disease
R-HSA-3781860	Diseases associated with N-glycosylation of proteins
R-HSA-3781865	Diseases of glycosylation
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 239 (showing top): GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, YY1_Q6, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, RICKMAN_METASTASIS_DN, GOBP_PROTEIN_MATURATION, YY1_02, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_PROTEIN_FOLDING, GOBP_OLIGOSACCHARIDE_BIOSYNTHETIC_PROCESS, MARIADASON_REGULATED_BY_HISTONE_ACETYLATION_DN

GO Biological Process (3): protein folding (GO:0006457), dolichol-linked oligosaccharide biosynthetic process (GO:0006488), oligosaccharide biosynthetic process (GO:0009312)

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

GO Cellular Component (2): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Asparagine N-linked glycosylation	1
Diseases associated with N-glycosylation of proteins	1
Diseases of glycosylation	1
Diseases of metabolism	1
Post-translational protein modification	1
Disease	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
protein maturation	1
protein N-linked glycosylation	1
carbohydrate derivative biosynthetic process	1
oligosaccharide metabolic process	1
carbohydrate biosynthetic process	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

622 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPDU1	DPM1	O60762	966
MPDU1	DPM2	O94777	929
MPDU1	DPM3	Q9P2X0	760
MPDU1	ALG6	Q9Y672	742
MPDU1	ALG12	Q9BV10	645
MPDU1	DOLPP1	Q86YN1	644
MPDU1	ALG3	Q92685	640
MPDU1	SRD5A3	Q9H8P0	638
MPDU1	PIGV	Q9NUD9	627
MPDU1	DOLK	Q9UPQ8	614
MPDU1	NUS1	Q96E22	592
MPDU1	ALG8	Q9BVK2	592
MPDU1	ALG11	Q2TAA5	578
MPDU1	PIGO	Q8TEQ8	574
MPDU1	PIGP	P57054	570

IntAct

37 interactions, top by confidence:

A	B	Type	Score
MPDU1	MANBAL	psi-mi:“MI:0915”(physical association)	0.560
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
MPDU1		psi-mi:“MI:0915”(physical association)	0.370
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
CLN6	SCAMP3	psi-mi:“MI:0914”(association)	0.350
	TSPO	psi-mi:“MI:0914”(association)	0.350
Npc1	ESYT2	psi-mi:“MI:0914”(association)	0.350
TSPAN8	TP53I11	psi-mi:“MI:0914”(association)	0.350
FFAR1	SLC12A8	psi-mi:“MI:0914”(association)	0.350
CLEC2D	ESYT2	psi-mi:“MI:0914”(association)	0.350
KCNK1	TMEM223	psi-mi:“MI:0914”(association)	0.350
TSPAN8	POTEF	psi-mi:“MI:0914”(association)	0.350
ASPH	POTEF	psi-mi:“MI:0914”(association)	0.350
MFSD4A	UBXN8	psi-mi:“MI:0914”(association)	0.350
ATP2A3	UBXN8	psi-mi:“MI:0914”(association)	0.350
NAAA	HAX1	psi-mi:“MI:0914”(association)	0.350
SLC2A1	SLC33A1	psi-mi:“MI:0914”(association)	0.350
ATP1A3	EI24	psi-mi:“MI:0914”(association)	0.350
GPR84	EI24	psi-mi:“MI:0914”(association)	0.350
VIPR2	EI24	psi-mi:“MI:0914”(association)	0.350
SYNGR1	TNPO2	psi-mi:“MI:0914”(association)	0.350
EDNRA	MGST3	psi-mi:“MI:0914”(association)	0.350
S1PR4	NPC1	psi-mi:“MI:0914”(association)	0.350
HTR1B	SCAMP2	psi-mi:“MI:0914”(association)	0.350
PDPN	ORC4	psi-mi:“MI:0914”(association)	0.350
RELL2	ATP9A	psi-mi:“MI:0914”(association)	0.350
MPDU1	QRICH2	psi-mi:“MI:0915”(physical association)	0.000
MPDU1	MORF4L2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (84): MPDU1 (Affinity Capture-RNA), MPDU1 (Affinity Capture-RNA), MORF4L2 (Affinity Capture-MS), PMVK (Affinity Capture-MS), SLC1A5 (Affinity Capture-MS), QRICH2 (Affinity Capture-MS), RPS3A (Affinity Capture-MS), HERC2 (Affinity Capture-MS), MPDU1 (Affinity Capture-MS), MPDU1 (Affinity Capture-MS), MPDU1 (Proximity Label-MS), MPDU1 (Two-hybrid), MPDU1 (Proximity Label-MS), MPDU1 (Proximity Label-MS), MPDU1 (Proximity Label-MS)

ESM2 similar proteins: A2AKQ0, A2VE55, A5GFZ5, B8B7Q4, F4JN00, O14494, O42602, O60762, O70152, O75352, O88956, P0CK96, P60588, Q15B89, Q1JQ93, Q28HF8, Q2M3R5, Q3ZCD7, Q4L208, Q4R8V4, Q52KD1, Q5PT50, Q5PT53, Q5RDC9, Q5XF09, Q5ZJ75, Q5ZJH8, Q64232, Q6DBP3, Q6DHK8, Q6NMB6, Q6ZL17, Q762D5, Q76EJ3, Q7T0V6, Q8C811, Q8GUJ1, Q8IVW8, Q8R4D1, Q8RXL8

Diamond homologs: O75352, Q20157, Q60441, Q8VY63, Q9LTI3, Q9R0Q9, Q9VMW8, Q8C6U2, Q8N755

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	10
Uncertain significance	57
Likely benign	29
Benign	7

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
5868	NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro)	Pathogenic
5871	NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser)	Pathogenic
2663022	NM_004870.4(MPDU1):c.666_667del (p.Cys223fs)	Likely pathogenic
3381955	NM_004870.4(MPDU1):c.193del (p.Ile65fs)	Likely pathogenic
3911820	NM_004870.4(MPDU1):c.69C>A (p.Tyr23Ter)	Likely pathogenic
4081517	NM_004870.4(MPDU1):c.389-2A>T	Likely pathogenic
4685275	NM_004870.4(MPDU1):c.389-2A>G	Likely pathogenic
495318	NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser)	Likely pathogenic
495319	NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro)	Likely pathogenic
631790	NM_004870.4(MPDU1):c.619-2A>G	Likely pathogenic
817696	NM_004870.4(MPDU1):c.566_567del (p.Thr189fs)	Likely pathogenic
930801	NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter)	Likely pathogenic

SpliceAI

1444 predictions. Top by Δscore:

Variant	Effect	Δscore
17:7585730:A:AG	acceptor_gain	1.0000
17:7585731:G:GC	acceptor_gain	1.0000
17:7585731:GT:G	acceptor_gain	1.0000
17:7585731:GTC:G	acceptor_gain	1.0000
17:7585731:GTCC:G	acceptor_gain	1.0000
17:7585731:GTCCC:G	acceptor_gain	1.0000
17:7585795:TAGGT:T	donor_loss	1.0000
17:7585797:GGTA:G	donor_loss	1.0000
17:7585798:G:GG	donor_gain	1.0000
17:7585798:GTAT:G	donor_loss	1.0000
17:7585799:T:G	donor_loss	1.0000
17:7585942:CTA:C	acceptor_loss	1.0000
17:7585944:A:AG	acceptor_gain	1.0000
17:7585944:A:G	acceptor_loss	1.0000
17:7585945:G:GT	acceptor_gain	1.0000
17:7585945:GT:G	acceptor_gain	1.0000
17:7585945:GTA:G	acceptor_gain	1.0000
17:7585945:GTAA:G	acceptor_gain	1.0000
17:7585945:GTAAA:G	acceptor_gain	1.0000
17:7586803:GC:G	donor_gain	1.0000
17:7587016:GG:G	donor_gain	1.0000
17:7587017:GG:G	donor_gain	1.0000
17:7587159:A:AG	acceptor_gain	1.0000
17:7587160:G:GG	acceptor_gain	1.0000
17:7587273:T:G	donor_loss	1.0000
17:7587420:A:AG	acceptor_gain	1.0000
17:7587421:A:G	acceptor_gain	1.0000
17:7592253:CCTT:C	donor_gain	1.0000
17:7592353:CA:C	acceptor_gain	1.0000
17:7592355:C:CC	acceptor_gain	1.0000

AlphaMissense

1573 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:7586053:A:C	S93R	0.995
17:7586055:C:A	S93R	0.995
17:7586055:C:G	S93R	0.995
17:7587249:C:A	A199D	0.994
17:7586703:A:T	E105V	0.992
17:7587181:C:A	N176K	0.992
17:7587181:C:G	N176K	0.992
17:7587474:T:C	C223R	0.992
17:7585993:G:A	G73R	0.991
17:7585993:G:C	G73R	0.991
17:7586699:G:C	G104R	0.991
17:7585737:T:C	C37R	0.990
17:7585767:G:A	G47R	0.990
17:7585767:G:C	G47R	0.990
17:7585786:G:A	G53D	0.990
17:7586700:G:A	G104D	0.990
17:7587263:T:C	S204P	0.990
17:7587456:T:C	F217L	0.990
17:7587458:T:A	F217L	0.990
17:7587458:T:G	F217L	0.990
17:7585773:G:C	G49R	0.988
17:7585785:G:C	G53R	0.988
17:7585950:G:C	K58N	0.988
17:7585950:G:T	K58N	0.988
17:7586696:T:A	W103R	0.988
17:7586696:T:C	W103R	0.988
17:7586725:G:C	Q112H	0.988
17:7586725:G:T	Q112H	0.988
17:7587170:G:C	A173P	0.987
17:7587252:G:C	R200P	0.987

dbSNP variants (sampled 300 via entrez): RS1000424656 (17:7587890 G>C), RS1000440011 (17:7583461 C>G,T), RS1001834520 (17:7586526 G>A,C), RS1002373428 (17:7585271 C>G,T), RS1002378555 (17:7584743 G>A,C), RS1002490810 (17:7584439 T>C,G), RS1002898352 (17:7584959 C>G), RS1003060823 (17:7587952 G>A), RS1004318688 (17:7582941 G>A), RS1004433256 (17:7582682 C>T), RS1005323990 (17:7581825 G>A,C), RS1005325989 (17:7587162 T>C), RS1006462052 (17:7582294 T>C), RS1007344668 (17:7585579 A>G), RS1007634230 (17:7584311 G>A,T)

Disease associations

OMIM: gene MIM:604041 | disease phenotypes: MIM:609180

GenCC curated gene-disease

Disease	Classification	Inheritance
MPDU1-congenital disorder of glycosylation	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
MPDU1-congenital disorder of glycosylation	Definitive	AR

Mondo (1): MPDU1-congenital disorder of glycosylation (MONDO:0012211)

Orphanet (1): MPDU1-CDG (Orphanet:79323)

HPO phenotypes

44 total (30 of 44 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000233	Thin vermilion border
HP:0000242	Parietal bossing
HP:0000252	Microcephaly
HP:0000260	Wide anterior fontanel
HP:0000486	Strabismus
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000803	Renal cortical cysts
HP:0000824	Decreased response to growth hormone stimulation test
HP:0000958	Dry skin
HP:0000962	Hyperkeratosis
HP:0000964	Eczematoid dermatitis
HP:0001019	Erythroderma
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001276	Hypertonia
HP:0001344	Absent speech
HP:0001371	Flexion contracture
HP:0001508	Failure to thrive
HP:0001522	Death in infancy
HP:0002059	Cerebral atrophy
HP:0002119	Ventriculomegaly
HP:0002521	Hypsarrhythmia
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003256	Abnormality of the coagulation cascade
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0003642	Type I transferrin isoform profile

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001364_3	IgA nephropathy	4.000000e-10
GCST010002_119	Refractive error	3.000000e-22
GCST010083_41	Hemoglobin levels	4.000000e-09
GCST010703_158	Brain morphology (MOSTest)	3.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535744	Congenital disorder of glycosylation type 1F (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067013 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC66 Lysosomal amino acid transporters

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
7.22	Kd	60.8	nM	CHEMBL5653589
7.22	ED50	60.8	nM	CHEMBL5653589

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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148764: Binding affinity to human MPDU1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0608	uM

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
sodium arsenite	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
bisphenol A	affects cotreatment, increases methylation	1
ochratoxin A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	decreases expression	1
ICG 001	decreases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Arsenic Trioxide	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Butyrates	decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Sarin	decreases expression	1
T-2 Toxin	increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	affects cotreatment, increases expression	1
Urethane	decreases expression	1
Cyclosporine	decreases expression	1
Okadaic Acid	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
CHEMBL5651806	Binding	Binding affinity to human MPDU1 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

4 cell lines: 2 cancer cell line, 1 transformed cell line, 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3B4	Abcam HEK293T MPDU1 KO	Transformed cell line	Female
CVCL_DB12	GM20958	Finite cell line	Male
CVCL_SY77	HAP1 MPDU1 (-) 1	Cancer cell line	Male
CVCL_SY78	HAP1 MPDU1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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