APIP

Summary

APIP (APAF1 interacting protein, HGNC:17581) is a protein-coding gene on chromosome 11p13, encoding Methylthioribulose-1-phosphate dehydratase (Q96GX9). Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P).

Enables identical protein binding activity; methylthioribulose 1-phosphate dehydratase activity; and zinc ion binding activity. Involved in several processes, including L-methionine salvage from methylthioadenosine; protein homotetramerization; and pyroptotic inflammatory response. Located in cytoplasm.

Source: NCBI Gene 51074 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_015957

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17581
Approved symbol	APIP
Name	APAF1 interacting protein
Location	11p13
Locus type	gene with protein product
Status	Approved
Aliases	CGI-29, Mmrp19, APIP2
Ensembl gene	ENSG00000149089
Ensembl biotype	protein_coding
OMIM	612491
Entrez	51074

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000395787, ENST00000527830, ENST00000532428, ENST00000901543, ENST00000901544, ENST00000901545, ENST00000901546, ENST00000937716, ENST00000937717, ENST00000937718, ENST00000937719, ENST00000965075, ENST00000965076

RefSeq mRNA: 1 — MANE Select: NM_015957 NM_015957

CCDS: CCDS7895

Canonical transcript exons

ENST00000395787 — 7 exons

Exon	Start	End
ENSE00000988738	34895010	34895110
ENSE00002192018	34882295	34882816
ENSE00002198995	34916228	34916379
ENSE00003460374	34890504	34890552
ENSE00003478274	34888752	34888869
ENSE00003659871	34888293	34888428
ENSE00003669096	34883337	34883504

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 93.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.5014 / max 325.6449, expressed in 1821 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
119260	28.1409	1820
119263	0.5516	336
119261	0.4922	276
119262	0.3060	134
206249	0.0107	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	93.94	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.61	gold quality
right adrenal gland	UBERON:0001233	93.31	gold quality
corpus callosum	UBERON:0002336	93.10	gold quality
right adrenal gland cortex	UBERON:0035827	93.05	gold quality
monocyte	CL:0000576	92.80	gold quality
skeletal muscle tissue	UBERON:0001134	92.74	gold quality
left adrenal gland	UBERON:0001234	92.55	gold quality
adrenal tissue	UBERON:0018303	92.40	gold quality
leukocyte	CL:0000738	92.32	gold quality
muscle of leg	UBERON:0001383	92.25	gold quality
adrenal gland	UBERON:0002369	92.16	gold quality
left adrenal gland cortex	UBERON:0035825	92.14	gold quality
gastrocnemius	UBERON:0001388	91.99	gold quality
muscle tissue	UBERON:0002385	91.78	gold quality
substantia nigra	UBERON:0002038	91.20	gold quality
gall bladder	UBERON:0002110	90.86	gold quality
saliva-secreting gland	UBERON:0001044	90.85	gold quality
minor salivary gland	UBERON:0001830	90.54	gold quality
endometrium	UBERON:0001295	90.49	gold quality
body of pancreas	UBERON:0001150	90.22	gold quality
fundus of stomach	UBERON:0001160	90.16	gold quality
mucosa of transverse colon	UBERON:0004991	90.14	gold quality
islet of Langerhans	UBERON:0000006	90.02	gold quality
rectum	UBERON:0001052	90.02	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.00	gold quality
body of stomach	UBERON:0001161	89.85	gold quality
pancreas	UBERON:0001264	89.75	gold quality
ganglionic eminence	UBERON:0004023	89.64	gold quality
omental fat pad	UBERON:0010414	89.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.63
E-MTAB-6108	no	134.17
E-MTAB-6379	no	132.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting APIP, 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-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-3915	99.45	68.49	1905
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-3688-5P	99.12	69.67	1091
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-6516-5P	98.42	70.19	1551
HSA-MIR-541-5P	98.24	67.77	1181
HSA-MIR-3921	97.81	67.45	1431

Literature-anchored findings (GeneRIF, showing 9)

• APIP functions to inhibit muscle ischemic damage by binding to Apaf-1 in the Apaf-1/caspase-9 apoptosis pathway. (PMID:15262985)
• The down-regulation of APIP and UACA expression suggests that the threshold to activate the apoptosome apparatus may be decreased in non-small cell lung cancer cells. (PMID:22407486)
• A polymorphism associated with reduced expression of a putative methionine salvage pathway dehydratase, apoptotic protease activating factor 1 (APAF1)-interacting protein (APIP), was associated with increased caspase-1-mediated cell death in Salmonella. (PMID:22837397)
• human APIP was overproduced in Escherichia coli, purified and crystallized. An X-ray diffraction data set was collected to 2.40 A resolution (PMID:23192037)
• these results confirm the involvement of APIP in the methionine salvage pathway, which plays a key role in many biological functions like cancer, apoptosis, microbial proliferation and inflammation. (PMID:23285211)
• APIP/MtnB functions as a cell death inhibitor independently of its MtnB enzyme activity for apoptosis induced by either hypoxia or etoposide, but dependently for caspase-1-induced pyroptosis (PMID:24367089)
• Results suggest that APIP stimulates cell proliferation via ERBB3, acting in conjunction with ERBB2, in gastric cancer cells. (PMID:26942872)
• APIP is crucial for cardioprotection against myocardial infarction by virtue of binding to and stabilizing ADORA2B, thereby dampening ischemic heart injury. (PMID:31263105)
• APIP regulated by YAP propels methionine cycle and metastasis in head and neck squamous cell carcinoma. (PMID:38423248)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	apip	ENSDARG00000003132
mus_musculus	Apip	ENSMUSG00000010911
rattus_norvegicus	Apip	ENSRNOG00000007446
drosophila_melanogaster	CG11134	FBGN0030518
caenorhabditis_elegans		WBGENE00013870

Protein

Protein identifiers

Methylthioribulose-1-phosphate dehydratase — Q96GX9 (reviewed: Q96GX9)

Alternative names: APAF1-interacting protein

All UniProt accessions (2): Q96GX9, S4R3D6

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death.

Subunit / interactions. Homotetramer. Interacts with APAF1. May interact with CASP1.

Subcellular location. Cytoplasm.

Tissue specificity. Isoform 1 is ubiquitously expressed. Isoform 2 is expressed at lower levels and detected in heart, brain, pancreas, liver, placenta, skeletal muscle and kidney.

Cofactor. Binds 1 zinc ion per subunit.

Pathway. Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 2/6.

Similarity. Belongs to the aldolase class II family. MtnB subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96GX9-1	1, Long	yes
Q96GX9-3	2, Short

RefSeq proteins (1): NP_057041* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001303	Aldolase_II/adducin_N	Domain
IPR017714	MethylthioRu-1-P_deHdtase_MtnB	Family
IPR027514	Salvage_MtnB_euk	Family
IPR036409	Aldolase_II/adducin_N_sf	Homologous_superfamily

Pfam: PF00596

Enzyme classification (BRENDA):

• EC 4.2.1.109 — methylthioribulose 1-phosphate dehydratase (BRENDA: 10 organisms, 5 substrates, 0 inhibitors, 1 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
S-METHYL-5-THIO-D-RIBULOSE 1-PHOSPHATE	0.0089	1

Catalyzed reactions (Rhea), 1 shown:

• 5-(methylsulfanyl)-D-ribulose 1-phosphate = 5-methylsulfanyl-2,3-dioxopentyl phosphate + H2O (RHEA:15549)

UniProt features (46 total): mutagenesis site 11, helix 10, strand 9, sequence variant 4, binding site 4, sequence conflict 2, turn 2, chain 1, active site 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4M6R	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96GX9-F1	93.41	0.90

Functional residue map

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

Catalytic / active sites (1): 139 (proton donor/acceptor)

Ligand- & substrate-binding residues (4): 97; 115; 117; 195

Post-translational modifications (1): 87

Mutagenesis-validated functional residues (11):

Position	Phenotype
84	does not affect ability of cells to grow in media where methionine is replaced by 5-methylthioadenosine; when associated
87	does not affect ability of cells to grow in media where methionine is replaced by 5-methylthioadenosine; when associated
89	does not affect ability of cells to grow in media where methionine is replaced by 5-methylthioadenosine; when associated
96	mildly reduced enzyme activity.
97	acts as a dominant negative mutant; unable to use 5’-methylthioadenosine as source of methionine. does not affect the ab
97	almost complete loss of enzyme activity. abolishes protection against pyroptosis. no effect on anti-apoptotic activity.
115	almost complete loss of enzyme activity. abolishes protection against pyroptosis. no effect on anti-apoptotic activity.
115	impaired ability of cells to grow in media where methionine is replaced by 5-methylthioadenosine; when associated with a
117	impaired ability of cells to grow in media where methionine is replaced by 5-methylthioadenosine; when associated with a
139	almost complete loss of enzyme activity. abolishes protection against pyroptosis. no effect on anti-apoptotic activity.
195	impaired ability of cells to grow in media where methionine is replaced by 5-methylthioadenosine; when associated with 8

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-111458	Formation of apoptosome
R-HSA-1237112	Methionine salvage pathway
R-HSA-9627069	Regulation of the apoptosome activity
R-HSA-109581	Apoptosis
R-HSA-109606	Intrinsic Pathway for Apoptosis
R-HSA-111461	Cytochrome c-mediated apoptotic response
R-HSA-111471	Apoptotic factor-mediated response
R-HSA-1430728	Metabolism
R-HSA-1614635	Sulfur amino acid metabolism
R-HSA-5357801	Programmed Cell Death
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 173 (showing top): GOBP_PROTEIN_HOMOTETRAMERIZATION, GOBP_INFLAMMATORY_RESPONSE, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, KEGG_CYSTEINE_AND_METHIONINE_METABOLISM, GOBP_AMINO_ACID_BIOSYNTHETIC_PROCESS, GOBP_ASPARTATE_FAMILY_AMINO_ACID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, AMIT_EGF_RESPONSE_480_MCF10A, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, MODULE_205, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_METHIONINE_BIOSYNTHETIC_PROCESS, AIYAR_COBRA1_TARGETS_DN, GOBP_METHIONINE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS

GO Biological Process (8): apoptotic process (GO:0006915), obsolete L-methionine salvage from methylthioadenosine (GO:0019509), negative regulation of apoptotic process (GO:0043066), protein homotetramerization (GO:0051289), pyroptotic inflammatory response (GO:0070269), regulation of ERK1 and ERK2 cascade (GO:0070372), amino acid biosynthetic process (GO:0008652), obsolete methionine biosynthetic process (GO:0009086)

GO Molecular Function (6): zinc ion binding (GO:0008270), identical protein binding (GO:0042802), methylthioribulose 1-phosphate dehydratase activity (GO:0046570), protein binding (GO:0005515), lyase activity (GO:0016829), metal ion binding (GO:0046872)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Cytochrome c-mediated apoptotic response	1
Sulfur amino acid metabolism	1
Formation of apoptosome	1
Programmed Cell Death	1
Apoptosis	1
Apoptotic factor-mediated response	1
Intrinsic Pathway for Apoptosis	1
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
protein homooligomerization	1
protein tetramerization	1
inflammatory response	1
regulation of MAPK cascade	1
ERK1 and ERK2 cascade	1
amino acid metabolic process	1
biosynthetic process	1
transition metal ion binding	1
protein binding	1
hydro-lyase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1402 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APIP	APAF1	O14727	922
APIP	ENOPH1	Q9UHY7	715
APIP	MRI1	Q9BV20	673
APIP	EHF	Q9NZC4	667
APIP	ADI1	Q9BV57	595
APIP	CASP9	P55211	594
APIP	PDHX	O00330	566
APIP	CYCS	P00001	521
APIP	ELF5	Q9UKW6	494
APIP	MTAP	Q13126	474
APIP	CASP3	P42574	466
APIP	ENO1	P06733	449
APIP	DCTN4	Q9UJW0	444
APIP	LSM8	O95777	423
APIP	SPPL3	Q8TCT6	415

IntAct

109 interactions, top by confidence:

A	B	Type	Score
APIP	APIP	psi-mi:“MI:0915”(physical association)	0.890
LNX1	APIP	psi-mi:“MI:0915”(physical association)	0.830
APIP	LNX1	psi-mi:“MI:0915”(physical association)	0.830
NUDT18	APIP	psi-mi:“MI:0915”(physical association)	0.710
APIP	NUDT18	psi-mi:“MI:0915”(physical association)	0.710
APIP	TNPO2	psi-mi:“MI:0915”(physical association)	0.670
PDZD4	APIP	psi-mi:“MI:0915”(physical association)	0.670
NTAQ1	APIP	psi-mi:“MI:0915”(physical association)	0.670
APIP	TSC22D4	psi-mi:“MI:0915”(physical association)	0.670
TNPO2	APIP	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (74): APIP (Two-hybrid), APIP (Two-hybrid), APIP (Two-hybrid), APIP (Two-hybrid), APIP (Two-hybrid), APIP (Two-hybrid), APIP (Two-hybrid), WDYHV1 (Two-hybrid), PDZD4 (Two-hybrid), TSC22D4 (Two-hybrid), LNX1 (Two-hybrid), C6orf165 (Two-hybrid), HEPHL1 (Affinity Capture-MS), LYG2 (Affinity Capture-MS), UBA3 (Affinity Capture-MS)

ESM2 similar proteins: A1AJA3, A7ZV69, A8A7U4, A9N514, B1IT08, B1LQL8, B1XDU9, B2TY70, B2WCB2, B5BKK6, B5F3B4, B5Z2K4, B6I2A3, B7LCQ8, B7LLY0, B7M9G0, B7MLK3, B7MSS8, B7NGD2, B7NTQ4, C0Q6F5, C1BJB1, C1C4M8, C1DI94, C4ZR75, P06190, P08203, P0C1B9, P37680, P39306, P44989, P94525, Q0SX87, Q0T9J5, Q0UUN6, Q328K0, Q3YUF0, Q47JC0, Q57GJ4, Q5FW37

Diamond homologs: A1CIK4, A1CW59, A2Q9M4, A3LVM9, A4HGN7, A4I3R0, A4RK52, A5DHV9, A5E3E3, A6RAS3, A6RI12, A6ZPY9, A7EH92, A7RH72, A7TET7, A8NQV9, A9RBS1, A9VCQ2, B0CZ32, B0Y4N9, B2A8X1, B2WCB2, B3LQB9, B3MW09, B3NVZ7, B3S866, B4IG61, B4JLL3, B4L8M2, B4M1W5, B4NEU3, B4Q2F5, B4R4E9, B5VLI6, B5X277, B6HNY8, B6K0X1, B6QQ13, B8LXM1, B8NSW2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
APIP	down-regulates	APAF1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	4
Benign	10

Top pathogenic / likely-pathogenic (0)

SpliceAI

1456 predictions. Top by Δscore:

Variant	Effect	Δscore
11:34882812:CACAC:C	acceptor_gain	1.0000
11:34883379:C:CA	donor_gain	1.0000
11:34883379:CCATG:C	donor_gain	1.0000
11:34883397:A:AC	donor_gain	1.0000
11:34883398:C:CC	donor_gain	1.0000
11:34883399:TG:T	donor_gain	1.0000
11:34883500:CATAT:C	acceptor_gain	1.0000
11:34883501:ATATC:A	acceptor_loss	1.0000
11:34883502:TAT:T	acceptor_gain	1.0000
11:34883502:TATC:T	acceptor_loss	1.0000
11:34883503:ATCTG:A	acceptor_loss	1.0000
11:34883504:TCTGT:T	acceptor_loss	1.0000
11:34883505:C:CA	acceptor_loss	1.0000
11:34883506:T:G	acceptor_loss	1.0000
11:34888869:GCT:G	acceptor_loss	1.0000
11:34888870:C:A	acceptor_loss	1.0000
11:34888870:C:CC	acceptor_gain	1.0000
11:34888871:T:G	acceptor_loss	1.0000
11:34888874:T:C	acceptor_gain	1.0000
11:34888874:T:TC	acceptor_gain	1.0000
11:34888876:A:AC	acceptor_gain	1.0000
11:34888876:A:C	acceptor_gain	1.0000
11:34882813:ACACC:A	acceptor_loss	0.9900
11:34882814:CACCT:C	acceptor_loss	0.9900
11:34882815:ACC:A	acceptor_loss	0.9900
11:34882817:C:CC	acceptor_gain	0.9900
11:34882817:CTGT:C	acceptor_loss	0.9900
11:34882818:T:C	acceptor_loss	0.9900
11:34883272:A:AC	donor_gain	0.9900
11:34883273:C:CC	donor_gain	0.9900

AlphaMissense

1590 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:34888411:G:C	H115D	1.000
11:34883368:A:G	W200R	0.999
11:34883368:A:T	W200R	0.999
11:34883379:C:T	G196E	0.999
11:34883381:A:C	H195Q	0.999
11:34883381:A:T	H195Q	0.999
11:34883468:A:C	N166K	0.999
11:34883468:A:T	N166K	0.999
11:34888328:T:A	K142N	0.999
11:34888328:T:G	K142N	0.999
11:34888403:G:C	H117Q	0.999
11:34888403:G:T	H117Q	0.999
11:34888405:G:C	H117D	0.999
11:34888409:A:C	H115Q	0.999
11:34888409:A:T	H115Q	0.999
11:34888788:A:G	C97R	0.999
11:34890516:C:A	K65N	0.999
11:34890516:C:G	K65N	0.999
11:34895021:G:C	S49R	0.999
11:34895021:G:T	S49R	0.999
11:34895023:T:G	S49R	0.999
11:34883342:T:A	K208N	0.998
11:34883342:T:G	K208N	0.998
11:34883379:C:A	G196V	0.998
11:34883382:T:G	H195P	0.998
11:34883383:G:C	H195D	0.998
11:34883383:G:T	H195N	0.998
11:34883385:C:G	R194P	0.998
11:34883391:A:T	V192D	0.998
11:34883448:A:G	L173P	0.998

dbSNP variants (sampled 300 via entrez): RS1000120323 (11:34887945 A>G), RS1000258796 (11:34913131 C>T), RS1000380464 (11:34900862 C>T), RS1000421983 (11:34903445 T>C), RS1000462451 (11:34914972 C>A,G), RS1000832847 (11:34915305 T>C), RS1000836992 (11:34896604 G>C), RS1001014503 (11:34911656 G>A), RS1001085537 (11:34917114 A>G), RS1001115619 (11:34884849 T>C), RS1001125430 (11:34884615 C>A), RS1001197699 (11:34913727 C>T), RS1001221624 (11:34900444 T>C), RS1001315172 (11:34900045 C>T), RS1001326282 (11:34904248 G>A)

Disease associations

OMIM: gene MIM:612491 | disease phenotypes: MIM:245349

GenCC curated gene-disease

Mondo (1): pyruvate dehydrogenase E3-binding protein deficiency (MONDO:0009503)

Orphanet (1): Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST001077_1	Cystic fibrosis severity	1.000000e-09
GCST001737_3	Chronic obstructive pulmonary disease-related biomarkers	7.000000e-09
GCST003143_10	Lung disease severity in cystic fibrosis	1.000000e-07
GCST003143_11	Lung disease severity in cystic fibrosis	3.000000e-06
GCST003143_12	Lung disease severity in cystic fibrosis	2.000000e-10
GCST003143_7	Lung disease severity in cystic fibrosis	7.000000e-09
GCST003143_8	Lung disease severity in cystic fibrosis	1.000000e-09
GCST003143_9	Lung disease severity in cystic fibrosis	3.000000e-09
GCST004093_36	Prostate-specific antigen levels	2.000000e-10
GCST004867_26	Systemic lupus erythematosus	4.000000e-06
GCST006019_35	Gamma glutamyl transferase levels	1.000000e-09
GCST011349_16	Gamma glutamyl transferase levels	2.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005080	CC16 measurement
EFO:0007744	lung disease severity measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C565447	Pyruvate Dehydrogenase E3-Binding Protein Deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation	3
sodium arsenite	decreases expression	2
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
bismuth tripotassium dicitrate	increases expression	1
bisphenol A	increases expression	1
cobaltous chloride	decreases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
bisphenol S	increases expression	1
Ethanol	affects cotreatment, decreases expression, increases abundance	1
Atrazine	increases expression	1
Cadmium	increases abundance, increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Dihydrotestosterone	increases expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Particulate Matter	affects cotreatment, decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_1708	SNU-C1	Cancer cell line	Male
CVCL_C9G9	SNU-C1/Cas9-hyg	Cancer cell line	Male

Clinical trials (associated diseases)

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