HP1BP3

Summary

HP1BP3 (heterochromatin protein 1 binding protein 3, HGNC:24973) is a protein-coding gene on chromosome 1p36.12, encoding Heterochromatin protein 1-binding protein 3 (Q5SSJ5). Component of heterochromatin that maintains heterochromatin integrity during G1/S progression and regulates the duration of G1 phase to critically influence cell proliferative capacity.

Enables DNA binding activity and nucleosome binding activity. Involved in several processes, including cellular response to hypoxia; heterochromatin organization; and regulation of nucleus size. Located in chromosome and nuclear speck.

Source: NCBI Gene 50809 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_001372052

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24973
Approved symbol	HP1BP3
Name	heterochromatin protein 1 binding protein 3
Location	1p36.12
Locus type	gene with protein product
Status	Approved
Aliases	HP1-BP74
Ensembl gene	ENSG00000127483
Ensembl biotype	protein_coding
OMIM	616072
Entrez	50809

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 21 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000312239, ENST00000375000, ENST00000375003, ENST00000414993, ENST00000417710, ENST00000419490, ENST00000419948, ENST00000424732, ENST00000437575, ENST00000438032, ENST00000443615, ENST00000487117, ENST00000488722, ENST00000491748, ENST00000852047, ENST00000852048, ENST00000852049, ENST00000852050, ENST00000852051, ENST00000938000, ENST00000960408, ENST00000960409, ENST00000960410, ENST00000960411, ENST00000960412

RefSeq mRNA: 16 — MANE Select: NM_001372052 NM_001372052, NM_001376787, NM_001376788, NM_001376789, NM_001376790, NM_001376791, NM_001376792, NM_001376793, NM_001376794, NM_001376795, NM_001376796, NM_001376797, NM_001399820, NM_001399821, NM_001399823, NM_016287

CCDS: CCDS30621

Canonical transcript exons

ENST00000438032 — 13 exons

Exon	Start	End
ENSE00001211353	20770930	20771073
ENSE00001279286	20765377	20765531
ENSE00001279326	20776597	20776750
ENSE00001465477	20767584	20767664
ENSE00001465489	20773451	20773610
ENSE00001761624	20787195	20787307
ENSE00001767516	20757166	20757256
ENSE00002245255	20780345	20780540
ENSE00003627984	20779812	20779911
ENSE00003897449	20740266	20745091
ENSE00004282478	20749723	20749882
ENSE00004282480	20747544	20747655
ENSE00004282481	20745543	20745656

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 99.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 69.3928 / max 565.2428, expressed in 1825 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10792	48.0388	1825
10790	17.1093	1795
10791	1.6750	873
10786	0.9034	533
10785	0.6513	420
10784	0.3840	146
10783	0.2981	120
10789	0.2172	67
10787	0.1158	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	99.19	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.19	gold quality
tibia	UBERON:0000979	99.14	gold quality
trabecular bone tissue	UBERON:0002483	99.11	gold quality
parietal pleura	UBERON:0002400	99.09	gold quality
visceral pleura	UBERON:0002401	99.08	gold quality
skin of hip	UBERON:0001554	99.05	gold quality
calcaneal tendon	UBERON:0003701	98.96	gold quality
seminal vesicle	UBERON:0000998	98.95	gold quality
parotid gland	UBERON:0001831	98.95	gold quality
colonic epithelium	UBERON:0000397	98.89	gold quality
germinal epithelium of ovary	UBERON:0001304	98.88	gold quality
ganglionic eminence	UBERON:0004023	98.86	gold quality
corpus callosum	UBERON:0002336	98.85	gold quality
renal medulla	UBERON:0000362	98.83	gold quality
sural nerve	UBERON:0015488	98.82	gold quality
cortical plate	UBERON:0005343	98.78	gold quality
pylorus	UBERON:0001166	98.77	gold quality
urethra	UBERON:0000057	98.70	gold quality
stromal cell of endometrium	CL:0002255	98.68	gold quality
endometrium	UBERON:0001295	98.66	gold quality
mammary duct	UBERON:0001765	98.65	gold quality
cardia of stomach	UBERON:0001162	98.63	gold quality
superficial temporal artery	UBERON:0001614	98.63	gold quality
endocervix	UBERON:0000458	98.62	gold quality
tonsil	UBERON:0002372	98.62	gold quality
jejunum	UBERON:0002115	98.59	gold quality
jejunal mucosa	UBERON:0000399	98.58	gold quality
trigeminal ganglion	UBERON:0001675	98.57	gold quality
right ovary	UBERON:0002118	98.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-89	no	301.50
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

195 targeting HP1BP3, 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-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029

Literature-anchored findings (GeneRIF, showing 11)

• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• HP1-BP74 directly binds to HP1, and its middle region associates with linker DNA at the entry/exit site of nucleosomal DNA in vitro (PMID:20042602)
• found two biomarker loci at HP1BP3 and TTC9B, which predicted postpartum depression (PMID:24317310)
• HP1BP3 protein maintains heterochromatin integrity during G1-S progression and regulates the duration of G1 phase to critically influence cell proliferative capacity. (PMID:24830416)
• Quantitative profiling of chromatome dynamics reveals an important role for HP1BP3 in hypoxia-induced oncogenesis. (PMID:25100860)
• HP1BP3 is a component of heterochromatin, and its recruitment is dependent on a functional interaction with HP1 proteins. (PMID:25662603)
• HP1BP3 regulates hepatic expression of IGF1 and its binding proteins in mice, thus modulating the endocrine IGF1 pathway. (PMID:26402843)
• DNA methylation at early antenatal time points associated with changes in estradiol and allopregnanolone and postpartum depression (PMID:26503311)
• HP1BP3 promotes co-transcriptional miRNA processing via chromatin retention of nascent pri-miRNA transcripts. (PMID:27425409)
• A fail-safe system to prevent oncogenesis by senescence is targeted by SV40 small T antigen. (PMID:31819167)
• EZH2 interacts with HP1BP3 to epigenetically activate WNT7B that promotes temozolomide resistance in glioblastoma. (PMID:36517590)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	hp1bp3	ENSDARG00000044669
mus_musculus	Hp1bp3	ENSMUSG00000028759
rattus_norvegicus	Hp1bp3	ENSRNOG00000014445

Protein

Protein identifiers

Heterochromatin protein 1-binding protein 3 — Q5SSJ5 (reviewed: Q5SSJ5)

Alternative names: Protein HP1-BP74

All UniProt accessions (8): Q5SSJ5, B0QZK4, B0QZK5, B0QZK6, B0QZK7, B0QZK8, B0QZK9, Q5SWC8

UniProt curated annotations — full annotation on UniProt →

Function. Component of heterochromatin that maintains heterochromatin integrity during G1/S progression and regulates the duration of G1 phase to critically influence cell proliferative capacity. Mediates chromatin condensation during hypoxia, leading to increased tumor cell viability, radio-resistance, chemo-resistance and self-renewal.

Subunit / interactions. Interacts (via PxVxL motif) with CBX5 (via Trp-174).

Subcellular location. Nucleus. Chromosome.

Domain organisation. A central region that included the first H15 (linker histone H1/H5 globular) domain binds at the entry/exit site of the nucleosomal DNA.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5SSJ5-1	1	yes
Q5SSJ5-2	2
Q5SSJ5-3	3
Q5SSJ5-5	4

RefSeq proteins (16): NP_001358981, NP_001363716, NP_001363717, NP_001363718, NP_001363719, NP_001363720, NP_001363721, NP_001363722, NP_001363723, NP_001363724, NP_001363725, NP_001363726, NP_001386749, NP_001386750, NP_001386752, NP_057371 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005818	Histone_H1/H5_H15	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily

Pfam: PF00538

UniProt features (48 total): modified residue 13, compositionally biased region 8, splice variant 4, helix 4, region of interest 4, domain 3, cross-link 3, sequence conflict 3, turn 3, initiator methionine 1, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2RQP	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SSJ5-F1	65.58	0.29

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 (16): 2, 6, 51, 85, 142, 155, 156, 190, 248, 249, 441, 442, 446, 64, 97, 258

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 197 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS, DOANE_RESPONSE_TO_ANDROGEN_DN, GOBP_RESPONSE_TO_OXYGEN_LEVELS, FISCHER_G2_M_CELL_CYCLE, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, ATF4_Q2, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ATCATGA_MIR433, AML1_01, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, CART1_01, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS

GO Biological Process (6): nucleosome assembly (GO:0006334), regulation of DNA-templated transcription (GO:0006355), regulation of cell population proliferation (GO:0042127), heterochromatin organization (GO:0070828), cellular response to hypoxia (GO:0071456), regulation of nucleus size (GO:0097298)

GO Molecular Function (4): DNA binding (GO:0003677), nucleosome binding (GO:0031491), protein binding (GO:0005515), structural constituent of chromatin (GO:0030527)

GO Cellular Component (4): nucleosome (GO:0000786), nucleus (GO:0005634), chromosome (GO:0005694), nuclear speck (GO:0016607)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
chromatin organization	2
chromatin	2
nucleosome organization	1
protein-DNA complex assembly	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cell population proliferation	1
regulation of cellular process	1
response to hypoxia	1
cellular response to stress	1
cellular response to decreased oxygen levels	1
regulation of cellular component size	1
nucleic acid binding	1
chromatin binding	1
protein-containing complex binding	1
binding	1
structural molecule activity	1
protein-DNA complex	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

1300 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HP1BP3	TTC9B	Q8N6N2	799
HP1BP3	TMEM14B	Q9NUH8	557
HP1BP3	DPF3	Q92784	492
HP1BP3	SPIN4	Q56A73	466
HP1BP3	NAP1L1	P55209	466
HP1BP3	CREBZF	Q9NS37	454
HP1BP3	KCNK10	P57789	449
HP1BP3	ESR1	P03372	438
HP1BP3	MVB12B	Q9H7P6	425
HP1BP3	DAG1	Q14118	425
HP1BP3	TMPO	P08918	414
HP1BP3	MAP3K6	O95382	402
HP1BP3	MUL1	Q969V5	379
HP1BP3	ZNF148	Q9UQR1	379
HP1BP3	TTC9	Q92623	368

IntAct

235 interactions, top by confidence:

A	B	Type	Score
HMG20A	KDM1A	psi-mi:“MI:0914”(association)	0.730
XPC	CETN3	psi-mi:“MI:0914”(association)	0.730
N	HNRNPR	psi-mi:“MI:0914”(association)	0.730
PKMYT1	CCNB2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
H1-1	RRP8	psi-mi:“MI:0914”(association)	0.640
HP1BP3	IPO7	psi-mi:“MI:0914”(association)	0.640
HP1BP3	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	HP1BP3	psi-mi:“MI:0915”(physical association)	0.560
HP1BP3	H2AC4	psi-mi:“MI:0915”(physical association)	0.560
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
HP1BP3	IPO8	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
ZC3HAV1	KHNYN	psi-mi:“MI:0914”(association)	0.530
PPAN	PPM1G	psi-mi:“MI:0914”(association)	0.530
H2AC20	PPM1G	psi-mi:“MI:0914”(association)	0.530
PRR11	NVL	psi-mi:“MI:0914”(association)	0.530
RBM4	NVL	psi-mi:“MI:0914”(association)	0.530
PUM3	RRP8	psi-mi:“MI:0914”(association)	0.530
SRPK2	RRP9	psi-mi:“MI:0914”(association)	0.530
SART3	NSA2	psi-mi:“MI:0914”(association)	0.530
BHLHA15	RPLP0	psi-mi:“MI:0914”(association)	0.530
DAXX	TNRC18	psi-mi:“MI:0914”(association)	0.530

BioGRID (397): HP1BP3 (Two-hybrid), HP1BP3 (Affinity Capture-RNA), HP1BP3 (Affinity Capture-RNA), HP1BP3 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS), HP1BP3 (Reconstituted Complex), HP1BP3 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS), HP1BP3 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GV96, A0MZ66, A0MZ67, A1Z1Q3, A2VDA9, A5PJI6, A6NKN8, A8R4Q8, E7F7X0, O14990, O19021, O42932, O62771, O75167, O75264, P13505, P20810, P27775, P48539, P54866, P63054, P63055, Q04504, Q08DU9, Q148C4, Q15506, Q28IH8, Q3TEA8, Q3UYG8, Q4R615, Q5F3A1, Q5M8L3, Q5R4Q3, Q5SSJ5, Q5U1X0, Q5ZM33, Q62736, Q6GNQ4, Q6NWC9, Q6P3G4

Diamond homologs: A7MAZ5, D3ZBN0, G3N131, O01833, O16277, O17536, P02251, P02252, P02253, P02255, P02256, P02257, P02258, P02259, P06144, P06348, P06350, P06513, P06893, P06894, P06895, P07305, P07796, P08284, P08285, P08286, P08287, P08288, P09426, P09987, P10412, P10771, P10922, P15796, P15864, P15865, P15866, P15867, P15869, P15870

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 228 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of Senescence-Associated Heterochromatin Foci (SAHF)	6	27.6×	2e-06
Peptide chain elongation	16	13.9×	3e-12
Viral mRNA Translation	16	13.9×	3e-12
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	16	13.8×	3e-12
Selenocysteine synthesis	16	13.2×	5e-12
Eukaryotic Translation Termination	16	13.2×	5e-12
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	16	12.9×	5e-12
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	16	12.9×	5e-12

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of DNA recombination	8	44.7×	1e-09
chromosome condensation	8	33.5×	1e-08
cytoplasmic translation	17	15.7×	6e-13
ribosomal large subunit biogenesis	6	13.2×	5e-04
heterochromatin formation	9	11.4×	1e-05
ribosomal small subunit biogenesis	10	11.3×	3e-06
negative regulation of viral genome replication	6	11.2×	1e-03
rRNA processing	15	10.6×	4e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2496 predictions. Top by Δscore:

Variant	Effect	Δscore
1:20745087:GCAAC:G	acceptor_gain	1.0000
1:20745088:CAAC:C	acceptor_gain	1.0000
1:20745088:CAACC:C	acceptor_gain	1.0000
1:20745089:AAC:A	acceptor_gain	1.0000
1:20745089:AACC:A	acceptor_loss	1.0000
1:20745090:AC:A	acceptor_gain	1.0000
1:20745091:CC:C	acceptor_gain	1.0000
1:20745092:C:CC	acceptor_gain	1.0000
1:20745093:T:G	acceptor_loss	1.0000
1:20745102:C:CT	acceptor_gain	1.0000
1:20745102:C:T	acceptor_gain	1.0000
1:20745103:A:T	acceptor_gain	1.0000
1:20745541:ACCTT:A	donor_loss	1.0000
1:20745542:CCTT:C	donor_gain	1.0000
1:20745567:T:TA	donor_gain	1.0000
1:20745652:CTGGG:C	acceptor_gain	1.0000
1:20745653:TGGG:T	acceptor_gain	1.0000
1:20745654:GGG:G	acceptor_gain	1.0000
1:20745655:GG:G	acceptor_gain	1.0000
1:20745655:GGC:G	acceptor_loss	1.0000
1:20745656:GC:G	acceptor_loss	1.0000
1:20745657:C:CC	acceptor_gain	1.0000
1:20745657:C:T	acceptor_loss	1.0000
1:20745658:T:G	acceptor_loss	1.0000
1:20745659:A:AC	acceptor_gain	1.0000
1:20745659:A:C	acceptor_gain	1.0000
1:20745662:C:CT	acceptor_gain	1.0000
1:20745663:G:T	acceptor_gain	1.0000
1:20747540:TTA:T	donor_loss	1.0000
1:20747541:TAC:T	donor_loss	1.0000

AlphaMissense

2117 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:20757170:A:G	F326S	1.000
1:20757176:C:T	G324E	1.000
1:20757177:C:A	G324W	1.000
1:20757177:C:G	G324R	1.000
1:20757177:C:T	G324R	1.000
1:20757191:C:T	G319D	1.000
1:20757206:A:G	L314S	1.000
1:20757233:A:G	L305P	1.000
1:20757245:A:G	L301S	1.000
1:20765425:A:T	I281N	1.000
1:20765437:G:A	S277F	1.000
1:20765440:G:T	A276D	1.000
1:20765441:C:G	A276P	1.000
1:20767636:A:G	F228S	1.000
1:20767642:C:T	G226E	1.000
1:20767643:C:G	G226R	1.000
1:20767643:C:T	G226R	1.000
1:20770937:A:T	I216N	1.000
1:20770964:A:G	L207P	1.000
1:20770968:C:G	A206P	1.000
1:20771033:C:G	R184P	1.000
1:20771036:A:T	I183N	1.000
1:20773459:C:G	A168P	1.000
1:20773553:C:A	W136C	1.000
1:20773553:C:G	W136C	1.000
1:20773555:A:G	W136R	1.000
1:20773555:A:T	W136R	1.000
1:20773560:G:T	P134H	1.000
1:20757169:G:C	F326L	0.999
1:20757169:G:T	F326L	0.999

dbSNP variants (sampled 300 via entrez): RS1000037191 (1:20760565 G>T), RS1000044505 (1:20740473 G>A), RS1000126593 (1:20774759 C>A,T), RS1000155993 (1:20746534 A>G,T), RS1000156260 (1:20785661 A>C), RS1000238140 (1:20763133 C>G,T), RS1000240097 (1:20752388 G>A), RS1000253673 (1:20769195 C>T), RS1000376160 (1:20780790 G>C), RS1000382129 (1:20758065 G>A,C), RS1000394531 (1:20763291 C>T), RS1000400751 (1:20785859 T>C,G), RS1000469698 (1:20768676 C>T), RS1000612848 (1:20756557 G>T), RS1000656829 (1:20785150 C>G,T)

Disease associations

OMIM: gene MIM:616072 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003075_71	Cognitive decline rate in late mild cognitive impairment	1.000000e-07
GCST007110_1	Physical activity (walking duration)	2.000000e-08
GCST007324_76	Adventurousness	6.000000e-13
GCST007565_19	Morning person	1.000000e-17

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007710	cognitive decline measurement
EFO:0008002	physical activity measurement
EFO:0008579	risk-taking behaviour
EFO:0008328	chronotype measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
TAK-243	decreases sumoylation	1
bisphenol A	increases expression	1
lead acetate	affects cotreatment, decreases expression	1
titanium dioxide	increases methylation	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression	1
beta-lapachone	decreases expression	1
methylparaben	increases expression	1
zinc protoporphyrin	affects cotreatment, decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	increases expression	1
artenimol	affects binding	1
beta-methylcholine	affects expression	1
avobenzone	increases expression	1
K 7174	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
bisphenol S	increases expression	1
(+)-JQ1 compound	increases expression	1
excavatolide B	decreases expression	1
bisphenol AF	increases expression	1
Zoledronic Acid	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Caffeine	affects phosphorylation	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2Z4	Abcam HEK293T HP1BP3 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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