IRAK1BP1

Summary

IRAK1BP1 (interleukin 1 receptor associated kinase 1 binding protein 1, HGNC:17368) is a protein-coding gene on chromosome 6q14.1, encoding Interleukin-1 receptor-associated kinase 1-binding protein 1 (Q5VVH5). Component of the IRAK1-dependent TNFRSF1A signaling pathway that leads to NF-kappa-B activation and is required for cell survival.

Predicted to enable signaling adaptor activity. Predicted to be involved in canonical NF-kappaB signal transduction. Predicted to be located in cytoplasm and nucleus.

Source: NCBI Gene 134728 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 657 total — 29 pathogenic, 25 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001010844

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17368
Approved symbol	IRAK1BP1
Name	interleukin 1 receptor associated kinase 1 binding protein 1
Location	6q14.1
Locus type	gene with protein product
Status	Approved
Aliases	AIP70, SIMPL
Ensembl gene	ENSG00000146243
Ensembl biotype	protein_coding
OMIM	615375
Entrez	134728

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000369940, ENST00000606868, ENST00000606929, ENST00000607739

RefSeq mRNA: 1 — MANE Select: NM_001010844 NM_001010844

CCDS: CCDS34488

Canonical transcript exons

ENST00000369940 — 4 exons

Exon	Start	End
ENSE00000974710	78897829	78897959
ENSE00001337808	78885378	78885443
ENSE00001451291	78867551	78867891
ENSE00003699779	78898064	78903102

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 90.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2977 / max 120.3700, expressed in 1588 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68655	6.2738	1544
68656	1.4747	759
68657	0.3133	159
68660	0.1485	70
68658	0.0416	15
68659	0.0252	12
68661	0.0207	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	90.86	gold quality
secondary oocyte	CL:0000655	90.10	gold quality
caput epididymis	UBERON:0004358	85.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.91	gold quality
corpus epididymis	UBERON:0004359	82.75	gold quality
bronchial epithelial cell	CL:0002328	82.39	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.84	gold quality
bronchus	UBERON:0002185	80.52	gold quality
ventricular zone	UBERON:0003053	78.62	gold quality
ganglionic eminence	UBERON:0004023	77.66	gold quality
cauda epididymis	UBERON:0004360	76.41	gold quality
mucosa of paranasal sinus	UBERON:0005030	75.98	gold quality
pigmented layer of retina	UBERON:0001782	75.68	gold quality
right uterine tube	UBERON:0001302	74.71	gold quality
calcaneal tendon	UBERON:0003701	74.23	gold quality
cortical plate	UBERON:0005343	72.83	gold quality
parietal pleura	UBERON:0002400	71.91	gold quality
islet of Langerhans	UBERON:0000006	71.76	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	71.65	gold quality
smooth muscle tissue	UBERON:0001135	71.21	gold quality
testis	UBERON:0000473	71.14	gold quality
oviduct epithelium	UBERON:0004804	71.14	gold quality
visceral pleura	UBERON:0002401	71.07	gold quality
germinal epithelium of ovary	UBERON:0001304	70.95	gold quality
pancreas	UBERON:0001264	70.79	gold quality
body of pancreas	UBERON:0001150	70.78	gold quality
fallopian tube	UBERON:0003889	70.46	gold quality
stromal cell of endometrium	CL:0002255	70.34	gold quality
right testis	UBERON:0004534	69.87	gold quality
adenohypophysis	UBERON:0002196	69.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

141 targeting IRAK1BP1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509

Literature-anchored findings (GeneRIF, showing 1)

• Together, these studies reveal that phosphorylation of the SIMPL protein plays a critical role in SIMPL regulation by affecting both SIMPL subcellular localization and the p65 coactivator function of SIMPL. (PMID:17079333)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	irak1bp1	ENSDARG00000036903
mus_musculus	Irak1bp1	ENSMUSG00000032251
rattus_norvegicus	Irak1bp1	ENSRNOG00000008984

Protein

Protein identifiers

Interleukin-1 receptor-associated kinase 1-binding protein 1 — Q5VVH5 (reviewed: Q5VVH5)

All UniProt accessions (4): Q5VVH5, U3KQ00, U3KQ34, U3KQ57

UniProt curated annotations — full annotation on UniProt →

Function. Component of the IRAK1-dependent TNFRSF1A signaling pathway that leads to NF-kappa-B activation and is required for cell survival. Acts by enhancing RELA transcriptional activity.

Subunit / interactions. Interacts with IRAK1 and RELA. Interacts with HSPA8 and HSPA1.

Subcellular location. Cytoplasm. Nucleus.

Post-translational modifications. Phosphorylation at Ser-56 and/or Ser-62 is required for full activity. Phosphorylated on at least one of Ser-235, Thr-237, Ser-242 and Thr-247 upon TNF activation, which favors nuclear translocation.

Domain organisation. The disordered region interacts with HSPA1 and HSPA8.

Similarity. Belongs to the IRAK1BP1 family.

RefSeq proteins (1): NP_001010844* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007497	SIMPL/DUF541	Family
IPR030312	IRAK1BP1	Family

Pfam: PF04402

UniProt features (10 total): modified residue 6, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VVH5-F1	82.40	0.69

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 (6): 56, 62, 235, 237, 242, 247

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 111 (showing top): GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_MAGENTA_DN, WORSCHECH_TUMOR_REJECTION_DN, chr6q14, GOMF_SIGNALING_ADAPTOR_ACTIVITY, PGF_UP.V1_UP, PDGF_ERK_DN.V1_DN, HOXB6_TARGET_GENES, ZNF2_TARGET_GENES, ZNF257_TARGET_GENES

GO Biological Process (2): immune response (GO:0006955), positive regulation of canonical NF-kappaB signal transduction (GO:0043123)

GO Molecular Function (2): signaling adaptor activity (GO:0035591), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
immune system process	1
response to stimulus	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
protein-macromolecule adaptor activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

526 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IRAK1BP1	PHIP	Q8WWQ0	575
IRAK1BP1	IRAK1	P51617	571
IRAK1BP1	IBTK	Q9P2D0	528
IRAK1BP1	SPATA25	Q9BR10	485
IRAK1BP1	TLR5	O60602	467
IRAK1BP1	IL1R2	P27930	416
IRAK1BP1	ACOT8	O14734	393
IRAK1BP1	HMGN3	Q15651	357
IRAK1BP1	TUBE1	Q9UJT0	352
IRAK1BP1	IGFLR1	Q9H665	338
IRAK1BP1	AHSG	P02765	333
IRAK1BP1	CDK9	P50750	333
IRAK1BP1	ACSS3	Q9H6R3	331
IRAK1BP1	PIBF1	Q8WXW3	323
IRAK1BP1	GALNT2	Q10471	321

IntAct

29 interactions, top by confidence:

A	B	Type	Score
IRAK1BP1	TFCP2	psi-mi:“MI:0915”(physical association)	0.560
TFCP2	IRAK1BP1	psi-mi:“MI:0915”(physical association)	0.560
USP20	IRAK1BP1	psi-mi:“MI:0915”(physical association)	0.560
RIPPLY1	IRAK1BP1	psi-mi:“MI:0915”(physical association)	0.560
IRAK1BP1	MISP	psi-mi:“MI:0915”(physical association)	0.560
PHF1	IRAK1BP1	psi-mi:“MI:0915”(physical association)	0.560
PRKAB2	IRAK1BP1	psi-mi:“MI:0915”(physical association)	0.560
IRAK1BP1	ZNF410	psi-mi:“MI:0915”(physical association)	0.560
IRAK1BP1	SCNM1	psi-mi:“MI:0915”(physical association)	0.560
IRAK1BP1	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.440
RIN3		psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
IRAK1BP1	HERC1	psi-mi:“MI:0914”(association)	0.350
PHF1	IRAK1BP1	psi-mi:“MI:0915”(physical association)	0.000
PRKAB2	IRAK1BP1	psi-mi:“MI:0915”(physical association)	0.000
ZNF410	IRAK1BP1	psi-mi:“MI:0915”(physical association)	0.000
SCNM1	IRAK1BP1	psi-mi:“MI:0915”(physical association)	0.000
MISP	IRAK1BP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): IRAK1BP1 (Two-hybrid), IRAK1BP1 (Affinity Capture-MS), IRAK1BP1 (Two-hybrid), IRAK1BP1 (Two-hybrid), IRAK1BP1 (Two-hybrid), IRAK1BP1 (Two-hybrid), IRAK1BP1 (Two-hybrid), RIPPLY1 (Two-hybrid), SCNM1 (Two-hybrid), IRAK1BP1 (Two-hybrid), IRAK1BP1 (Affinity Capture-Western), IRAK1BP1 (Affinity Capture-MS), IRAK1BP1 (Two-hybrid), SPECC1L (Affinity Capture-MS), HERC1 (Affinity Capture-MS)

ESM2 similar proteins: A0JM23, A0M8T3, A0P9L2, D3Z8X7, D3ZUM2, F1LW30, H2LP95, I3L5V6, O82387, P0CI65, P57075, Q07E30, Q08AV8, Q0P4D6, Q108U1, Q3TTL0, Q3U3W5, Q3UMR0, Q3V3E1, Q4KM51, Q4R3W5, Q501X6, Q566V3, Q5N897, Q5REW9, Q5SSK3, Q5T8I9, Q5VVH5, Q5W5X9, Q66H33, Q6AZT7, Q6P2P2, Q6PDS3, Q6PJI9, Q6UXZ4, Q7TNH6, Q7Z494, Q80V31, Q8BGG7, Q8BZT9

Diamond homologs: A0P9L2, Q08AV8, Q501X6, Q5VVH5, Q9ESJ7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	29
Likely pathogenic	25
Uncertain significance	294
Likely benign	203
Benign	58

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1172622	NM_017934.7(PHIP):c.3922A>T (p.Arg1308Ter)	Pathogenic
1339462	NM_017934.7(PHIP):c.4174_4175insATTTTCAGTAATTATTTTCAGTAATT (p.Ser1392delinsTyrPheGlnTer)	Pathogenic
1700481	NM_017934.7(PHIP):c.3801_3805del (p.Ile1268fs)	Pathogenic
1708980	NM_017934.7(PHIP):c.4370+1G>A	Pathogenic
1992347	NM_017934.7(PHIP):c.4513C>T (p.Arg1505Ter)	Pathogenic
2098354	NM_017934.7(PHIP):c.3975_3976del (p.Cys1325_Glu1326delinsTer)	Pathogenic
2501968	NM_017934.7(PHIP):c.3460G>T (p.Gly1154Ter)	Pathogenic
2603870	NM_017934.7(PHIP):c.5054_5063delinsGGATT (p.Glu1685fs)	Pathogenic
2664246	NM_017934.7(PHIP):c.3394G>T (p.Glu1132Ter)	Pathogenic
2664247	NM_017934.7(PHIP):c.3499del (p.Arg1167fs)	Pathogenic
2664250	NM_017934.7(PHIP):c.3952dup (p.Ile1318fs)	Pathogenic
3024269	NM_017934.7(PHIP):c.3243G>A (p.Trp1081Ter)	Pathogenic
3359011	NM_017934.7(PHIP):c.3297_3298del (p.Phe1100fs)	Pathogenic
3417737	NM_017934.7(PHIP):c.4677del (p.Ser1560fs)	Pathogenic
3691723	NM_017934.7(PHIP):c.4687C>T (p.Gln1563Ter)	Pathogenic
39979	NM_017934.7(PHIP):c.3447T>G (p.Tyr1149Ter)	Pathogenic
4279650	NM_017934.7(PHIP):c.3685C>T (p.Arg1229Ter)	Pathogenic
450225	NM_017934.7(PHIP):c.4402C>T (p.Gln1468Ter)	Pathogenic
4729561	NM_017934.7(PHIP):c.4239del (p.Phe1414fs)	Pathogenic
4733257	NM_017934.7(PHIP):c.2926G>T (p.Glu976Ter)	Pathogenic
4812839	NM_017934.7(PHIP):c.4476del (p.Gln1493fs)	Pathogenic
627522	NM_017934.7(PHIP):c.3595del (p.Thr1198_Val1199insTer)	Pathogenic
627524	NM_017934.7(PHIP):c.4570del (p.Ser1524fs)	Pathogenic
627527	NM_017934.7(PHIP):c.3161del (p.Val1053_Leu1054insTer)	Pathogenic
638583	NM_017934.7(PHIP):c.3656+1242A>T	Pathogenic
870652	Single allele	Pathogenic
965020	NM_017934.7(PHIP):c.3142delinsATA (p.Val1048fs)	Pathogenic
982876	NM_017934.7(PHIP):c.3110C>A (p.Ser1037Ter)	Pathogenic
984976	NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs)	Pathogenic
1030614	NM_017934.7(PHIP):c.4631-2A>T	Likely pathogenic

SpliceAI

1115 predictions. Top by Δscore:

Variant	Effect	Δscore
6:78885373:TTCA:T	acceptor_loss	1.0000
6:78885374:TCA:T	acceptor_loss	1.0000
6:78885375:CAG:C	acceptor_loss	1.0000
6:78885376:A:AC	acceptor_loss	1.0000
6:78885376:A:AG	acceptor_gain	1.0000
6:78885377:G:GG	acceptor_gain	1.0000
6:78885377:G:GT	acceptor_loss	1.0000
6:78885377:GGCA:G	acceptor_gain	1.0000
6:78885441:GAG:G	donor_gain	1.0000
6:78885441:GAGGT:G	donor_loss	1.0000
6:78885444:GTAT:G	donor_loss	1.0000
6:78885445:T:G	donor_loss	1.0000
6:78945295:CTTAC:C	donor_loss	1.0000
6:78945297:TAC:T	donor_loss	1.0000
6:78945298:A:C	donor_loss	1.0000
6:78945299:C:G	donor_loss	1.0000
6:78945299:CCTTG:C	donor_gain	1.0000
6:78945495:GTA:G	acceptor_gain	1.0000
6:78945498:C:CC	acceptor_gain	1.0000
6:78945505:A:C	acceptor_gain	1.0000
6:78945994:GTCTT:G	donor_loss	1.0000
6:78945998:TACT:T	donor_loss	1.0000
6:78945999:A:AC	donor_gain	1.0000
6:78946000:C:A	donor_loss	1.0000
6:78946000:C:CC	donor_gain	1.0000
6:78946000:CTT:C	donor_gain	1.0000
6:78946008:C:A	donor_gain	1.0000
6:78946256:CAGGG:C	acceptor_gain	1.0000
6:78946257:AGGG:A	acceptor_gain	1.0000
6:78946258:GGG:G	acceptor_gain	1.0000

AlphaMissense

1682 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:78898087:T:A	V179D	0.993
6:78898095:G:C	A182P	0.993
6:78885438:G:C	A126P	0.991
6:78898108:C:A	A186D	0.990
6:78898084:C:A	A178D	0.989
6:78898159:T:A	I203N	0.989
6:78898293:T:C	F248L	0.989
6:78898295:T:A	F248L	0.989
6:78898295:T:G	F248L	0.989
6:78898107:G:C	A186P	0.988
6:78897905:T:A	V153D	0.987
6:78867847:C:A	R91S	0.985
6:78867776:G:C	R67P	0.984
6:78898159:T:C	I203T	0.983
6:78867778:G:C	A68P	0.981
6:78898096:C:A	A182E	0.981
6:78898159:T:G	I203S	0.981
6:78867835:A:C	S87R	0.980
6:78867837:C:A	S87R	0.980
6:78867837:C:G	S87R	0.980
6:78897893:T:C	L149P	0.980
6:78867810:G:C	K78N	0.979
6:78867810:G:T	K78N	0.979
6:78898294:T:C	F248S	0.979
6:78867839:T:A	V88D	0.978
6:78867844:C:A	R90S	0.974
6:78898083:G:C	A178P	0.974
6:78867845:G:C	R90P	0.973
6:78897959:G:C	R171P	0.973
6:78867802:A:C	S76R	0.972

dbSNP variants (sampled 300 via entrez): RS1000006445 (6:78892209 A>C,G), RS1000025837 (6:78870557 A>G), RS1000044372 (6:78940322 C>T), RS1000047406 (6:78969755 C>A,G), RS1000092026 (6:78924996 T>G), RS1000107621 (6:78866654 G>A,C), RS1000117673 (6:78942094 T>C), RS1000177442 (6:78963688 A>G), RS1000195633 (6:78903943 A>G), RS1000250390 (6:78879698 CA>C), RS1000269749 (6:78933227 A>G), RS1000289183 (6:78890913 A>G), RS1000292966 (6:78910566 A>G), RS1000293329 (6:78868307 G>A), RS1000345926 (6:78910350 T>C)

Disease associations

OMIM: gene MIM:615375 | disease phenotypes: MIM:617991, MIM:181500

GenCC curated gene-disease

Mondo (5): PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (MONDO:0035133), schizophrenia (MONDO:0005090), neurodevelopmental disorder (MONDO:0700092), intellectual disability (MONDO:0001071), syndromic intellectual disability (MONDO:0000508)

Orphanet (5): PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (Orphanet:589905), Rare genetic syndromic intellectual disability (Orphanet:183763), Rare genetic intellectual disability (Orphanet:183757), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0100753	Schizophrenia

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002249_10	Blood pressure measurement (high sodium intervention)	4.000000e-09
GCST002249_8	Blood pressure measurement (high sodium intervention)	2.000000e-06
GCST002250_2	Blood pressure measurement (low sodium intervention)	2.000000e-07
GCST002252_12	Blood pressure measurement (high sodium and potassium intervention)	1.000000e-10
GCST002252_7	Blood pressure measurement (high sodium and potassium intervention)	5.000000e-07
GCST002936_3	Cadmium levels	5.000000e-06
GCST003815_88	Late-onset Alzheimer’s disease	5.000000e-06
GCST004879_1	Sjögren’s syndrome	7.000000e-07
GCST006166_100	Diastolic blood pressure x alcohol consumption interaction (2df test)	2.000000e-16
GCST006976_119	Macular thickness	4.000000e-11
GCST009614_2	LDL cholesterol levels x loop diuretics use interaction	4.000000e-08
GCST011494_32	Daytime nap	3.000000e-06

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0005401	response to high sodium diet
EFO:0006335	systolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0005402	response to low sodium diet
EFO:0005403	response to dietary potassium supplementation
EFO:1001870	late-onset Alzheimers disease
EFO:0004329	alcohol drinking
EFO:0006336	diastolic blood pressure
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0007828	daytime rest measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	2
sodium arsenite	affects methylation, decreases expression	2
potassium chromate(VI)	increases expression, affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
2-anisidine	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	increases expression	1
tri-o-cresyl phosphate	increases expression	1
resorcinol	decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
chromium hexavalent ion	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
PCI 5002	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Azathioprine	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Lead	affects expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	decreases expression	1
Smoke	increases abundance, increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety