ZC3HC1

Summary

ZC3HC1 (zinc finger C3HC-type containing 1, HGNC:29913) is a protein-coding gene on chromosome 7q32.2, encoding Zinc finger C3HC-type protein 1 (Q86WB0). Required for proper positioning of a substantial amount of TPR at the nuclear basket (NB) through interaction with TPR.

This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis.

Source: NCBI Gene 51530 — RefSeq curated summary.

At a glance

• GWAS associations: 32
• Clinical variants (ClinVar): 38 total
• Druggable target: yes
• MANE Select transcript: NM_016478

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29913
Approved symbol	ZC3HC1
Name	zinc finger C3HC-type containing 1
Location	7q32.2
Locus type	gene with protein product
Status	Approved
Aliases	NIPA
Ensembl gene	ENSG00000091732
Ensembl biotype	protein_coding
OMIM	619746
Entrez	51530

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 14 nonsense_mediated_decay, 10 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000358303, ENST00000360708, ENST00000467642, ENST00000470651, ENST00000471022, ENST00000477578, ENST00000480193, ENST00000481503, ENST00000483827, ENST00000484432, ENST00000648450, ENST00000714093, ENST00000714094, ENST00000714095, ENST00000714096, ENST00000714097, ENST00000714098, ENST00000714099, ENST00000714100, ENST00000714104, ENST00000714105, ENST00000869172, ENST00000934846, ENST00000934847, ENST00000934848, ENST00000948672, ENST00000948673

RefSeq mRNA: 4 — MANE Select: NM_016478 NM_001282190, NM_001282191, NM_001363701, NM_016478

CCDS: CCDS34753, CCDS75659, CCDS87546

Canonical transcript exons

ENST00000358303 — 10 exons

Exon	Start	End
ENSE00003490494	130051221	130051374
ENSE00003663602	130040951	130041101
ENSE00004022782	130026158	130026312
ENSE00004022786	130022319	130022525
ENSE00004022787	130028902	130029029
ENSE00004022801	130039464	130039547
ENSE00004022802	130049033	130049144
ENSE00004022803	130024263	130024506
ENSE00004022810	130023511	130023723
ENSE00004022812	130018292	130018732

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 95.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3355 / max 117.1167, expressed in 1798 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
86110	13.3355	1798

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	95.59	gold quality
oocyte	CL:0000023	92.23	gold quality
deltoid	UBERON:0001476	92.22	gold quality
secondary oocyte	CL:0000655	90.80	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.93	gold quality
quadriceps femoris	UBERON:0001377	89.91	gold quality
gastrocnemius	UBERON:0001388	89.85	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.78	gold quality
muscle of leg	UBERON:0001383	89.60	gold quality
muscle organ	UBERON:0001630	89.57	gold quality
skeletal muscle organ	UBERON:0014892	89.57	gold quality
skeletal muscle tissue	UBERON:0001134	89.35	gold quality
vastus lateralis	UBERON:0001379	89.11	gold quality
muscle tissue	UBERON:0002385	88.70	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	88.66	gold quality
apex of heart	UBERON:0002098	88.57	gold quality
kidney epithelium	UBERON:0004819	87.97	silver quality
left ventricle myocardium	UBERON:0006566	87.96	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	87.83	gold quality
biceps brachii	UBERON:0001507	87.57	gold quality
ventricular zone	UBERON:0003053	86.84	gold quality
heart left ventricle	UBERON:0002084	86.11	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.10	gold quality
cardiac muscle of right atrium	UBERON:0003379	86.08	silver quality
cardiac ventricle	UBERON:0002082	85.85	gold quality
gingival epithelium	UBERON:0001949	85.49	silver quality
ganglionic eminence	UBERON:0004023	85.48	gold quality
embryo	UBERON:0000922	85.47	gold quality
right adrenal gland	UBERON:0001233	85.38	gold quality
epithelium of nasopharynx	UBERON:0001951	85.34	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting ZC3HC1, 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-4775	99.98	75.00	6394
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-1295B-5P	99.03	67.50	810
HSA-MIR-10A-5P	98.89	69.85	712
HSA-MIR-10B-5P	98.89	69.86	711
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-603	98.58	68.28	1603
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-5571-3P	97.80	66.07	640
HSA-MIR-483-3P	97.77	64.95	731
HSA-MIR-4639-3P	97.54	67.12	787
HSA-MIR-6890-3P	97.50	65.71	997
HSA-MIR-4540	96.90	67.46	473
HSA-MIR-6760-3P	96.35	68.31	1001
HSA-MIR-1293	96.16	64.69	916
HSA-MIR-9900	96.06	65.48	557

Literature-anchored findings (GeneRIF, showing 11)

• NIPA has an antiapoptotic role in NPM-ALK-mediated signaling events (PMID:12748172)
• The NIPA protein is a human F-box-containing protein that defines an SCF-type E3 ligase (SCF(NIPA)) controlling mitotic entry. (PMID:16009132)
• phosphorylated NIPA is degraded in late mitosis in an APC/C(Cdh1)-dependent manner (PMID:22205987)
• Data show that cell cycle-dependent phosphorylation of nuclear interaction partner of anaplastic lymphoma kinase (NIPA)is mediated by extracellular signal-regulated kinase 2 (ERK2). (PMID:22955283)
• Results indicate that ZC3HC1 rs11556924 polymorphism is associated with subclinical atherosclerosis in rheumatoid arthritis. (PMID:24286297)
• ZC3HC1 rs11556924 polymorphism is associated with hypertension in a Finnish cohort. (PMID:26266351)
• This study shows that the Coronary Artery Disease-associated coding polymorphism in ZC3HC1 alters the dynamics of cell-cycle regulation by NIPA. (PMID:27226629)
• Common nonsynonymous coding variant in ZC3HC1 (rs11556924) is associated with protection from coronary artery disease. (PMID:28115489)
• The Single Nucleotide Polymorphism of rs1464890 in ZC3HC1 is protective in hypertension. (PMID:31507094)
• Data show that common variants in A disintegrin and metalloproteinase with thrombospondin motifs 7 protein (ADAMTS7) and zinc finger, C3HC-type containing 1 protein (ZC3HC1) genes contribute to an increased risk for both coronary artery disease (CAD) and large artery ischemic stroke (LA atherosclerotic) IS. (PMID:31679296)
• ZC3HC1 Is a Novel Inherent Component of the Nuclear Basket, Resident in a State of Reciprocal Dependence with TPR. (PMID:34440706)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	zc3hc1	ENSDARG00000062651
mus_musculus	Zc3hc1	ENSMUSG00000039130
rattus_norvegicus	Zc3hc1	ENSRNOG00000010154
caenorhabditis_elegans		WBGENE00016794

Protein

Protein identifiers

Zinc finger C3HC-type protein 1 — Q86WB0 (reviewed: Q86WB0)

Alternative names: Nuclear-interacting partner of ALK, Nuclear-interacting partner of anaplastic lymphoma kinase

All UniProt accessions (13): Q86WB0, A0AAQ5BHD0, A0AAQ5BHE3, A0AAQ5BHH3, A0AAQ5BHH8, A0AAQ5BHI5, A0AAQ5BHJ1, A0AAQ5BHJ6, C9J0I9, F8WAU5, F8WBD7, F8WDK5, F8WF13

UniProt curated annotations — full annotation on UniProt →

Function. Required for proper positioning of a substantial amount of TPR at the nuclear basket (NB) through interaction with TPR.

Subunit / interactions. Interacts with TPR; this interaction mediates ZC3HC1 nuclear envelopes (NE)-association but also required for proper positioning of a substantial amount of TPR at the nuclear basket (NB).

Subcellular location. Nucleus. Nucleus envelope.

Tissue specificity. Widely expressed. Highly expressed in heart, skeletal muscle and testis. Expressed in brain, placenta, lung, kidney, liver, pancreas, spleen, thymus, prostate, ovary small intestine and colon. Weakly or not expressed in leukocytes.

Post-translational modifications. Phosphorylated. May also be weakly phosphorylated on Tyr residues.

Isoforms (3)

UniProt ID	Names	Canonical?
Q86WB0-1	1	yes
Q86WB0-2	2
Q86WB0-3	3

RefSeq proteins (4): NP_001269119, NP_001269120, NP_001350630, NP_057562* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012935	NuBaID_N	Domain
IPR013909	NuBaID_C	Domain

Pfam: PF07967, PF08600

UniProt features (44 total): modified residue 21, compositionally biased region 5, mutagenesis site 5, region of interest 3, splice variant 2, sequence variant 2, sequence conflict 2, initiator methionine 1, chain 1, zinc finger region 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86WB0-F1	69.40	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 (21): 2, 24, 28, 58, 62, 84, 321, 329, 333, 335, 338, 344, 354, 359, 370, 381, 384, 387, 395, 407 …

Mutagenesis-validated functional residues (5):

Position	Phenotype
105	does not strongly affect phosphorylation status; when associated with f-137.
137	does not strongly affect phosphorylation status; when associated with f-105.
354	strongly reduces phosphorylation.
398–401	induces a complete cytoplasmic redistribution.
399	induces a partial cytoplasmic redistribution.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9725371	Nuclear events stimulated by ALK signaling in cancer

MSigDB gene sets: 126 (showing top): YY1_Q6, chr7q32, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, AACTTT_UNKNOWN, GOCC_NUCLEAR_ENVELOPE, GCCATNTTG_YY1_Q6, GOBP_CELL_DIVISION, GOCC_NUCLEAR_PORE, GOCC_NUCLEAR_MEMBRANE, WGTTNNNNNAAA_UNKNOWN, CCAWNWWNNNGGC_UNKNOWN, GOERING_BLOOD_HDL_CHOLESTEROL_QTL_TRANS, AAGWWRNYGGC_UNKNOWN, GOMF_KINASE_BINDING, GOCC_ORGANELLE_ENVELOPE

GO Biological Process (2): protein ubiquitination (GO:0016567), cell division (GO:0051301)

GO Molecular Function (4): zinc ion binding (GO:0008270), protein kinase binding (GO:0019901), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear membrane (GO:0031965), nuclear pore nuclear basket (GO:0044615), nuclear envelope (GO:0005635)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Signaling by ALK fusions and activated point mutants	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleus	2
protein modification by small protein conjugation	1
cellular process	1
transition metal ion binding	1
kinase binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear envelope	1
organelle membrane	1
nuclear pore	1
nuclear protein-containing complex	1
endomembrane system	1
organelle envelope	1

Protein interactions and networks

STRING

830 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZC3HC1	PHACTR1	Q9C0D0	507
ZC3HC1	HHIPL1	Q96JK4	507
ZC3HC1	MIA3	Q5JRA6	507
ZC3HC1	ADAMTS7	Q9UKP4	507
ZC3HC1	SH2B3	Q9UQQ2	477
ZC3HC1	CNNM2	Q9H8M5	474
ZC3HC1	TAS2R50	P59544	473
ZC3HC1	WDR12	Q9GZL7	467
ZC3HC1	ALK	Q9UM73	459
ZC3HC1	KLHDC10	Q6PID8	447
ZC3HC1	PSRC1	Q6PGN9	447
ZC3HC1	GUCY1A1	Q02108	445
ZC3HC1	RNF166	Q96A37	444
ZC3HC1	KPTN	Q9Y664	433
ZC3HC1	EDNRA	P25101	427

IntAct

51 interactions, top by confidence:

A	B	Type	Score
GPX7	GAK	psi-mi:“MI:0914”(association)	0.640
ZC3HC1	TPR	psi-mi:“MI:0914”(association)	0.640
SKP1	MYCBP2	psi-mi:“MI:0914”(association)	0.640
SASS6	ZC3HC1	psi-mi:“MI:0915”(physical association)	0.590
ETNPPL	ZC3HC1	psi-mi:“MI:0915”(physical association)	0.560
PLK1	C1orf226	psi-mi:“MI:0914”(association)	0.560
ETNPPL	ZC3HC1	psi-mi:“MI:0914”(association)	0.560
MINDY3	UBB	psi-mi:“MI:0914”(association)	0.530
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
EPB41L5	SETD1A	psi-mi:“MI:0914”(association)	0.530
ECE1	ZC3HC1	psi-mi:“MI:0915”(physical association)	0.370
PDPK1	ZC3HC1	psi-mi:“MI:0915”(physical association)	0.370
ZC3HC1	TNFSF11	psi-mi:“MI:0915”(physical association)	0.370
ZC3HC1	TSC22D1	psi-mi:“MI:0915”(physical association)	0.370
TAFA3	FUOM	psi-mi:“MI:0914”(association)	0.350
ATP6V1C2	POTEF	psi-mi:“MI:0914”(association)	0.350
GRN	GNB2	psi-mi:“MI:0914”(association)	0.350
PRKCB	CHEK1	psi-mi:“MI:0914”(association)	0.350
atp6v1c_human	POTEF	psi-mi:“MI:0914”(association)	0.350
ANKRD39	UBA6	psi-mi:“MI:0914”(association)	0.350
S100B	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SKP1	BHLHE40	psi-mi:“MI:0914”(association)	0.350
CCT8L2	DVL2	psi-mi:“MI:0914”(association)	0.350

BioGRID (169): ZC3HC1 (Biochemical Activity), FZR1 (Affinity Capture-Western), ZC3HC1 (Biochemical Activity), ZC3HC1 (Biochemical Activity), Cul1 (Affinity Capture-Western), CCNB1 (Biochemical Activity), ZC3HC1 (Affinity Capture-MS), ZC3HC1 (Affinity Capture-MS), ZC3HC1 (Affinity Capture-MS), ZC3HC1 (Proximity Label-MS), SKP1 (Affinity Capture-Western), ZC3HC1 (Affinity Capture-Western), ZC3HC1 (Affinity Capture-MS), CCNB1 (Biochemical Activity), ZC3HC1 (Reconstituted Complex)

ESM2 similar proteins: A2AQ14, A5D791, A5D7N9, A5WW08, B1MT51, B2RZC4, B5SNH4, D4A4K3, O35144, O43482, O55036, O70173, P54274, P70371, Q08AE8, Q1LXR6, Q3U3S3, Q503I2, Q503Y8, Q5PQS0, Q68UT5, Q6IRN0, Q6P4K6, Q6P7H4, Q6ZNE5, Q7TP65, Q7Z2Z1, Q7Z4M0, Q80VH0, Q80YV2, Q86WB0, Q8BKT3, Q8BQ33, Q8BW88, Q8C008, Q8CDJ3, Q8WYP3, Q920I9, Q9CWH4, Q9CZJ6

Diamond homologs: Q5M8S7, Q5R8V9, Q6P7H4, Q80YV2, Q86WB0

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CDK1	down-regulates	ZC3HC1	phosphorylation
CDK2	down-regulates	ZC3HC1	phosphorylation
CyclinB/CDK1	down-regulates	ZC3HC1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1865 predictions. Top by Δscore:

Variant	Effect	Δscore
7:130022314:CTCA:C	donor_loss	1.0000
7:130022315:TCA:T	donor_loss	1.0000
7:130022316:CA:C	donor_loss	1.0000
7:130022318:C:CT	donor_loss	1.0000
7:130022526:C:A	acceptor_loss	1.0000
7:130022527:T:A	acceptor_loss	1.0000
7:130023509:A:AC	donor_gain	1.0000
7:130023510:C:CC	donor_gain	1.0000
7:130023510:CCGAA:C	donor_gain	1.0000
7:130023724:C:CC	acceptor_gain	1.0000
7:130024507:C:CC	acceptor_gain	1.0000
7:130026308:AAGCA:A	acceptor_gain	1.0000
7:130026309:AGCA:A	acceptor_gain	1.0000
7:130026310:GCAC:G	acceptor_loss	1.0000
7:130026311:CA:C	acceptor_gain	1.0000
7:130026312:ACT:A	acceptor_loss	1.0000
7:130026313:C:CC	acceptor_gain	1.0000
7:130026314:T:G	acceptor_loss	1.0000
7:130026348:CACCA:C	acceptor_gain	1.0000
7:130026351:C:CT	acceptor_gain	1.0000
7:130029030:C:CC	acceptor_gain	1.0000
7:130051220:CG:C	donor_gain	1.0000
7:130051233:C:A	donor_gain	1.0000
7:130018729:GACT:G	acceptor_gain	0.9900
7:130018731:CT:C	acceptor_gain	0.9900
7:130022313:T:C	donor_gain	0.9900
7:130022317:A:AC	donor_gain	0.9900
7:130022318:C:CC	donor_gain	0.9900
7:130022521:GTGTC:G	acceptor_gain	0.9900
7:130022522:TGTC:T	acceptor_gain	0.9900

AlphaMissense

3273 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:130041092:A:G	W90R	1.000
7:130041092:A:T	W90R	1.000
7:130026168:A:G	W256R	0.999
7:130026168:A:T	W256R	0.999
7:130039491:A:G	C156R	0.999
7:130041011:A:G	C117R	0.999
7:130041016:A:T	L115H	0.999
7:130041039:C:A	W107C	0.999
7:130041039:C:G	W107C	0.999
7:130041041:A:G	W107R	0.999
7:130041041:A:T	W107R	0.999
7:130041043:C:T	G106D	0.999
7:130041090:C:A	W90C	0.999
7:130041090:C:G	W90C	0.999
7:130022474:A:G	C429R	0.998
7:130024460:A:G	C275R	0.998
7:130026166:C:A	W256C	0.998
7:130026166:C:G	W256C	0.998
7:130039485:A:G	W158R	0.998
7:130039485:A:T	W158R	0.998
7:130039489:A:C	C156W	0.998
7:130039490:C:T	C156Y	0.998
7:130041000:A:C	C120W	0.998
7:130041001:C:T	C120Y	0.998
7:130041002:A:G	C120R	0.998
7:130041009:G:C	C117W	0.998
7:130041016:A:G	L115P	0.998
7:130041040:C:G	W107S	0.998
7:130041043:C:A	G106V	0.998
7:130024458:A:C	C275W	0.997

dbSNP variants (sampled 300 via entrez): RS1000003960 (7:130033737 C>A), RS1000147544 (7:130048041 G>A), RS1000484053 (7:130049599 C>A), RS1000519987 (7:130040728 C>A,T), RS1000589619 (7:130021569 G>A), RS1000677379 (7:130053084 A>G), RS1000897506 (7:130034034 A>C), RS1001085678 (7:130027456 G>C), RS1001143670 (7:130043084 T>G), RS1001147207 (7:130017986 T>C), RS1001194351 (7:130052751 A>G), RS1001261048 (7:130036757 G>A,T), RS1001293789 (7:130037084 C>T), RS1001540159 (7:130028876 T>C), RS1001548440 (7:130030268 C>T)

Disease associations

OMIM: gene MIM:619746 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

32 associations (top):

Study	Trait	p-value
GCST000998_9	Coronary heart disease	9.000000e-18
GCST002287_7	Coronary artery disease or ischemic stroke	9.000000e-10
GCST002289_3	Coronary artery disease	3.000000e-10
GCST002290_13	Coronary artery disease or large artery stroke	8.000000e-10
GCST003116_26	Coronary artery disease	5.000000e-11
GCST003117_6	Myocardial infarction	4.000000e-08
GCST004603_72	Platelet count	2.000000e-12
GCST004607_162	Plateletcrit	4.000000e-09
GCST004618_73	White blood cell count (basophil)	1.000000e-11
GCST004776_50	Systolic blood pressure	6.000000e-06
GCST004787_38	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	6.000000e-13
GCST005194_10	Coronary artery disease	1.000000e-24
GCST005195_140	Coronary artery disease	1.000000e-23
GCST005196_150	Coronary artery disease	1.000000e-24
GCST005196_151	Coronary artery disease	2.000000e-18
GCST006258_10	Diastolic blood pressure	8.000000e-15
GCST006259_40	Systolic blood pressure	8.000000e-09
GCST007094_147	Diastolic blood pressure	8.000000e-13
GCST007099_26	Systolic blood pressure	4.000000e-06
GCST009890_13	Parental lifespan	4.000000e-07
GCST010083_36	Hemoglobin levels	8.000000e-12
GCST010479_6	Coronary artery disease	5.000000e-14
GCST010866_126	Coronary artery disease	1.000000e-17
GCST011365_49	Myocardial infarction	6.000000e-14
GCST90002381_362	Eosinophil count	1.000000e-12
GCST90002383_438	Hematocrit	2.000000e-11
GCST90002384_163	Hemoglobin	2.000000e-14
GCST90002398_388	Neutrophil count	1.000000e-12
GCST90002400_53	Plateletcrit	2.000000e-20
GCST90002402_33	Platelet count	7.000000e-26

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0005090	basophil count
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure
EFO:0007796	parental longevity
EFO:0004509	hemoglobin measurement
EFO:0004842	eosinophil count
EFO:0004348	hematocrit
EFO:0004833	neutrophil count
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725037 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
2,4,6-tribromophenol	increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
decabromobiphenyl ether	increases expression	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	increases expression	1
coumarin	increases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
abrine	increases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Atrazine	decreases expression	1
Caffeine	affects phosphorylation	1
Camptothecin	decreases response to substance	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Gallic Acid	increases expression	1
Ivermectin	decreases expression	1
Ozone	affects cotreatment, increases expression, increases abundance	1
Quercetin	increases phosphorylation	1
Particulate Matter	increases abundance, decreases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697728	Binding	Inhibition of ZC3HC1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

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