BLMH

Summary

BLMH (bleomycin hydrolase, HGNC:1059) is a protein-coding gene on chromosome 17q11.2, encoding Bleomycin hydrolase (Q13867). The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity.

Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily.

Source: NCBI Gene 642 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 56 total
• Druggable target: yes
• MANE Select transcript: NM_000386

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1059
Approved symbol	BLMH
Name	bleomycin hydrolase
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	BH
Ensembl gene	ENSG00000108578
Ensembl biotype	protein_coding
OMIM	602403
Entrez	642

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 12 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000261714, ENST00000577290, ENST00000577306, ENST00000577623, ENST00000578090, ENST00000578795, ENST00000579325, ENST00000579957, ENST00000580709, ENST00000581037, ENST00000582669, ENST00000582749, ENST00000584603, ENST00000935066, ENST00000935067, ENST00000935068, ENST00000935069, ENST00000935070, ENST00000935071, ENST00000935072

RefSeq mRNA: 1 — MANE Select: NM_000386 NM_000386

CCDS: CCDS32604

Canonical transcript exons

ENST00000261714 — 12 exons

Exon	Start	End
ENSE00001250865	30248203	30249168
ENSE00003505141	30271271	30271388
ENSE00003509332	30285388	30285480
ENSE00003525606	30286814	30286902
ENSE00003559658	30266885	30266954
ENSE00003562231	30289373	30289482
ENSE00003612357	30272561	30272628
ENSE00003637632	30291311	30291508
ENSE00003660325	30272741	30272899
ENSE00003673935	30274042	30274197
ENSE00003693589	30287806	30287947
ENSE00003844739	30291807	30291944

Expression profiles

Bgee: expression breadth ubiquitous, 271 present calls, max score 97.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.7616 / max 198.4478, expressed in 1799 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165185	16.3691	1794
165184	1.4111	793
165186	1.1109	644
165187	0.8705	458

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	97.89	gold quality
skin of leg	UBERON:0001511	97.61	gold quality
skin of abdomen	UBERON:0001416	97.54	gold quality
zone of skin	UBERON:0000014	96.48	gold quality
upper leg skin	UBERON:0004262	95.14	gold quality
colonic epithelium	UBERON:0000397	93.29	gold quality
body of pancreas	UBERON:0001150	93.07	gold quality
descending thoracic aorta	UBERON:0002345	91.43	gold quality
esophagus mucosa	UBERON:0002469	91.12	gold quality
stromal cell of endometrium	CL:0002255	91.03	gold quality
body of uterus	UBERON:0009853	90.99	gold quality
islet of Langerhans	UBERON:0000006	90.87	gold quality
thoracic aorta	UBERON:0001515	90.84	gold quality
ascending aorta	UBERON:0001496	90.77	gold quality
pancreas	UBERON:0001264	90.69	gold quality
mammalian vulva	UBERON:0000997	90.58	gold quality
gastrocnemius	UBERON:0001388	90.54	gold quality
right coronary artery	UBERON:0001625	90.48	gold quality
ganglionic eminence	UBERON:0004023	90.44	gold quality
left coronary artery	UBERON:0001626	90.40	gold quality
right lung	UBERON:0002167	90.35	gold quality
cortical plate	UBERON:0005343	90.31	gold quality
lower esophagus mucosa	UBERON:0035834	90.31	gold quality
gall bladder	UBERON:0002110	90.24	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.19	gold quality
embryo	UBERON:0000922	90.19	gold quality
muscle of leg	UBERON:0001383	90.15	gold quality
aorta	UBERON:0000947	90.09	gold quality
esophagus	UBERON:0001043	89.96	gold quality
ectocervix	UBERON:0012249	89.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.72

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): IRF1, IRF2, MZF1, SP1, TBXT

miRNA regulators (miRDB)

74 targeting BLMH, 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-4533	100.00	69.48	2758
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-298	99.63	67.56	1916

Literature-anchored findings (GeneRIF, showing 16)

• Polymorphism is associated with neurodegenerative diseases, notably Alzheimer disease. (PMID:12604387)
• Significant effect of BLHX variant alleles (A/G, G/G) on the chromosome damage induced by bleomycin. (PMID:18082847)
• The homozygous variant G/G of BLMH gene SNP A1450G is associated with reduced survival and higher prevalence of early relapses in TC patients treated with bleomycin-containing chemotherapy. (PMID:18398146)
• This first report on BLMH carrier status in Tunisia shows o association between carrying the BLMH-G genotype and Alzheimer’s disease in epsilon4 negative or positive subjects. (PMID:20198498)
• BH activity and expression were markedly decreased in AD lesional skin, suggesting a defect of the filaggrin degradation pathway in AD. (PMID:21190945)
• Cysteine proteases bleomycin hydrolase and cathepsin Z mediate N-terminal proteolysis and toxicity of mutant huntingtin. (PMID:21310951)
• present study suggests that our new method can detect novel genes of interest and that BLMH is a suppressor gene in HCC (PMID:21943823)
• BH may play an important role during the late stage of epidermal differentiation. (PMID:22037625)
• The caspase-dependent cleavage of BLH was confirmed by cleavage of partly-purified human bleomycin hydrolase with caspase-3. (PMID:23708668)
• This study findings suggest that Blmh interacts with diverse cellular processes from energy metabolism and anti-oxidative defenses to cell cycle, cytoskeleton dynamics, and synaptic plasticity essential for normal brain homeostasis. (PMID:24496069)
• We also detected significant association between XRCC1, XRCC3, and BLHX polymorphisms and a high frequency of chromosomal damage (PMID:24615029)
• Bleomycin hydrolase downregulation in lesional skin of adult atopic dermatitis patients is independent of filaggrin gene mutations (PMID:25240784)
• the BLMH gene single nucleotide polymorphism A1450G (rs1050565) influences BLMH activity and late pulmonary toxicity. (PMID:27327270)
• Ubc9 plays different roles of action in antitumor agents in chemotherapy. The process requires bleomycin hydrolase and poly(ADP-ribose) polymerase-1. The results are beneficial to deeply understanding of Ubc9 functions and for precise prediction of chemotherapy outcomes in tumors. (PMID:27878232)
• Decapping Enzyme NUDT12 Partners with BLMH for Cytoplasmic Surveillance of NAD-Capped RNAs. (PMID:31875550)
• Bleomycin hydrolase regulates the release of chemokines important for inflammation and wound healing by keratinocytes. (PMID:31892708)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	blmh	ENSDARG00000025977
mus_musculus	Blmh	ENSMUSG00000020840
rattus_norvegicus	Blmh	ENSRNOG00000003563
drosophila_melanogaster	CG1440	FBGN0030038
drosophila_melanogaster	CG13423	FBGN0034513

Protein

Protein identifiers

Bleomycin hydrolase — Q13867 (reviewed: Q13867)

All UniProt accessions (7): Q13867, J3KS79, J3KSD8, K7EMJ3, K7ENH5, K7ES02, K7ESE8

UniProt curated annotations — full annotation on UniProt →

Function. The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity.

Subunit / interactions. Homohexamer. Interacts with NUDT12 (via ANK repeats).

Subcellular location. Cytoplasm. Cytoplasmic granule.

Similarity. Belongs to the peptidase C1 family.

RefSeq proteins (1): NP_000377* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000169	Pept_cys_AS	Active_site
IPR004134	Peptidase_C1B	Family
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily

Pfam: PF03051

Enzyme classification (BRENDA):

• EC 3.4.22.40 — bleomycin hydrolase (BRENDA: 13 organisms, 107 substrates, 35 inhibitors, 51 Km, 7 kcat entries)

Substrate kinetics (BRENDA)

43 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
BLEOMYCIN A2	0.46–1.3	5
BLEOMYCIN B2	0.056–0.79	3
GLY-GLY-GLY-GLY	0.78–1.24	2
PEPLOMYCIN	0.7–0.79	2
6’-DEOXY BLEOMYCIN A2	0.805	1
6’-DEOXY BLEOMYCIN Z	0.942	1
6’-DEOXY TALLYSOMYCIN H1	0.72	1
ALA-P-NITROANILIDE	17.4	1
ARG-P-NITROANILIDE	6.1	1
ASP-P-NITROANILIDE	28.4	1
BLEOMYCIN Z	0.854	1
BUTYLAMINO-3-PROPYLAMINO-3-PROPYLAMINE BLEOMYCIN	2.25	1
DEGLYCO BLEOMYCIN A2	0.49	1
GLY-ALA	2.9	1
GLY-ASP	14.8	1

UniProt features (49 total): helix 22, strand 16, turn 4, active site 3, modified residue 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
7V5L	X-RAY DIFFRACTION	1.74
2CB5	X-RAY DIFFRACTION	1.85
1CB5	X-RAY DIFFRACTION	2.59
7V5S	X-RAY DIFFRACTION	3.02
7XF9	X-RAY DIFFRACTION	3.2
7V5T	X-RAY DIFFRACTION	3.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13867-F1	98.10	0.98

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 (3): 73; 372; 396

Post-translational modifications (2): 1, 391

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 247 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, BASSO_B_LYMPHOCYTE_NETWORK, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, PEREZ_TP63_TARGETS, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_16HR_UP, MODULE_16, GGGTGGRR_PAX4_03, HUMMERICH_SKIN_CANCER_PROGRESSION_UP, chr17q11

GO Biological Process (5): protein polyubiquitination (GO:0000209), proteolysis (GO:0006508), response to xenobiotic stimulus (GO:0009410), response to toxic substance (GO:0009636), L-homocysteine catabolic process (GO:0043418)

GO Molecular Function (9): aminopeptidase activity (GO:0004177), carboxypeptidase activity (GO:0004180), cysteine-type endopeptidase activity (GO:0004197), cysteine-type peptidase activity (GO:0008234), identical protein binding (GO:0042802), cysteine-type aminopeptidase activity (GO:0070005), protein binding (GO:0005515), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to chemical	2
exopeptidase activity	2
cellular anatomical structure	2
protein ubiquitination	1
protein metabolic process	1
sulfur amino acid catabolic process	1
homocysteine metabolic process	1
L-amino acid catabolic process	1
non-proteinogenic amino acid catabolic process	1
endopeptidase activity	1
cysteine-type peptidase activity	1
peptidase activity	1
protein binding	1
aminopeptidase activity	1
cysteine-type exopeptidase activity	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
extracellular vesicle	1

Protein interactions and networks

STRING

1289 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BLMH	CASP14	P31944	746
BLMH	TPP2	P29144	621
BLMH	NPEPPS	P55786	589
BLMH	TTC19	Q6DKK2	583
BLMH	DNAJB12	Q9NXW2	581
BLMH	MTHFR	P42898	580
BLMH	THOP1	P52888	558
BLMH	CTSD	P07339	555
BLMH	TGM3	Q08188	542
BLMH	ERAP1	Q9NZ08	528
BLMH	CYP46A1	Q9Y6A2	528
BLMH	ASPRV1	Q53RT3	521
BLMH	WDR73	Q6P4I2	519
BLMH	ABCA2	Q9BZC7	515
BLMH	FLG2	Q5D862	507

IntAct

144 interactions, top by confidence:

A	B	Type	Score
BLMH	NUDT12	psi-mi:“MI:0915”(physical association)	0.880
NUDT12	BLMH	psi-mi:“MI:0915”(physical association)	0.880
BLMH	BLMH	psi-mi:“MI:0915”(physical association)	0.800
JADE1	KAT7	psi-mi:“MI:0914”(association)	0.720
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
NTAQ1	BLMH	psi-mi:“MI:0915”(physical association)	0.670
BLMH	NTAQ1	psi-mi:“MI:0915”(physical association)	0.670
TAE1	BLMH	psi-mi:“MI:0915”(physical association)	0.560
SRP1	BLMH	psi-mi:“MI:0915”(physical association)	0.560
BLMH	SRP1	psi-mi:“MI:0915”(physical association)	0.560
BLMH	TNPO3	psi-mi:“MI:0915”(physical association)	0.560
PGLS	BLMH	psi-mi:“MI:0915”(physical association)	0.560
BLMH	TRIM47	psi-mi:“MI:0915”(physical association)	0.560
TNPO2	BLMH	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (183): BLMH (Two-hybrid), WDYHV1 (Two-hybrid), NUDT12 (Two-hybrid), BLMH (Affinity Capture-MS), BLMH (Affinity Capture-MS), KBTBD7 (Two-hybrid), BLMH (Two-hybrid), BLMH (Co-fractionation), G6PD (Co-fractionation), BLMH (Affinity Capture-MS), BLMH (Affinity Capture-MS), BLMH (Affinity Capture-MS), BLMH (Affinity Capture-MS), BLMH (Affinity Capture-MS), BLMH (Affinity Capture-MS)

ESM2 similar proteins: A0A0K9RL25, E9QI36, G0SEV9, G4MT60, O24653, O35077, O57656, O97555, O97556, P00340, P11024, P13707, P21695, P21856, P28227, P31150, P40927, P40939, P50396, P50398, P60028, P70645, Q10305, Q13423, Q13867, Q1ZXC6, Q3ULJ0, Q5EA88, Q5R432, Q5R4A0, Q5R5V3, Q5RCE0, Q5XIZ6, Q61035, Q61941, Q6ZIX2, Q7YQM0, Q7ZVX6, Q8C878, Q8HXX7

Diamond homologs: A6ZRK4, B3LP78, B5VQH0, C7GPC1, C8ZFZ7, O69192, P13019, P70645, P87362, P94868, P94869, P94870, Q01532, Q04723, Q10744, Q13867, Q48543, Q56115, Q8R016, Q928V0, Q9CEG3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 125 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
MyD88 cascade initiated on plasma membrane	5	12.3×	7e-03
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	5	11.5×	8e-03
Signaling by Interleukins	8	6.2×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1806 predictions. Top by Δscore:

Variant	Effect	Δscore
17:30249169:C:CA	acceptor_loss	1.0000
17:30249169:C:CC	acceptor_gain	1.0000
17:30271384:CATAG:C	acceptor_gain	1.0000
17:30271389:C:CC	acceptor_gain	1.0000
17:30272559:A:AC	donor_gain	1.0000
17:30272560:C:CC	donor_gain	1.0000
17:30272560:CAG:C	donor_gain	1.0000
17:30272625:CAGC:C	acceptor_gain	1.0000
17:30272626:AGCCT:A	acceptor_loss	1.0000
17:30272627:GCCTA:G	acceptor_loss	1.0000
17:30272628:CCTA:C	acceptor_loss	1.0000
17:30272629:C:CC	acceptor_gain	1.0000
17:30272629:CTAG:C	acceptor_loss	1.0000
17:30272737:CAA:C	donor_loss	1.0000
17:30272739:A:AT	donor_loss	1.0000
17:30272740:CCT:C	donor_gain	1.0000
17:30272895:CAAAT:C	acceptor_gain	1.0000
17:30272896:AAAT:A	acceptor_gain	1.0000
17:30272900:C:CC	acceptor_gain	1.0000
17:30274038:CAAC:C	donor_loss	1.0000
17:30274039:AAC:A	donor_loss	1.0000
17:30274041:CCTT:C	donor_loss	1.0000
17:30274046:T:C	donor_gain	1.0000
17:30274049:T:TA	donor_gain	1.0000
17:30274193:AATAT:A	acceptor_gain	1.0000
17:30274194:ATAT:A	acceptor_gain	1.0000
17:30274195:TAT:T	acceptor_gain	1.0000
17:30274196:AT:A	acceptor_gain	1.0000
17:30274196:ATCT:A	acceptor_loss	1.0000
17:30274197:TCT:T	acceptor_loss	1.0000

AlphaMissense

3054 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:30271301:G:C	H372Q	0.999
17:30271301:G:T	H372Q	0.999
17:30289466:A:C	F76L	0.999
17:30289466:A:T	F76L	0.999
17:30289468:A:G	F76L	0.999
17:30289472:C:A	W74C	0.999
17:30289472:C:G	W74C	0.999
17:30289474:A:G	W74R	0.999
17:30289474:A:T	W74R	0.999
17:30291321:C:A	Q67H	0.999
17:30291321:C:G	Q67H	0.999
17:30249046:A:G	W447R	0.998
17:30249046:A:T	W447R	0.998
17:30266913:A:C	N396K	0.998
17:30266913:A:T	N396K	0.998
17:30271303:G:C	H372D	0.998
17:30272622:A:G	W323R	0.998
17:30272622:A:T	W323R	0.998
17:30287830:A:G	W147R	0.998
17:30287830:A:T	W147R	0.998
17:30287940:C:G	R110P	0.998
17:30289400:G:C	S98R	0.998
17:30289400:G:T	S98R	0.998
17:30289402:T:G	S98R	0.998
17:30289475:G:C	C73W	0.998
17:30289477:A:G	C73R	0.998
17:30289479:C:G	R72P	0.998
17:30249145:A:G	W414R	0.997
17:30249145:A:T	W414R	0.997
17:30266927:A:G	W392R	0.997

dbSNP variants (sampled 300 via entrez): RS1000030389 (17:30265223 C>T), RS1000125876 (17:30255432 TATTA>T), RS1000146206 (17:30265498 G>A), RS1000213216 (17:30290968 T>C), RS1000243178 (17:30258178 T>C), RS1000301414 (17:30250897 C>T), RS1000332258 (17:30250698 G>A,C,T), RS1000360707 (17:30257807 G>A), RS1000408608 (17:30271976 CTTTT>C,CTTT,CTTTTT), RS1000532357 (17:30291457 G>A), RS1000593701 (17:30257755 T>C), RS1000779787 (17:30278109 T>C), RS1000790763 (17:30258103 G>C), RS1000800971 (17:30263511 G>A), RS1000982911 (17:30270794 T>C)

Disease associations

OMIM: gene MIM:602403 | disease phenotypes: MIM:104300

GenCC curated gene-disease

Mondo (1): Alzheimer disease type 1 (MONDO:0007088)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536594	Alzheimer disease type 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295818 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1050565	Toxicity	3	bleomycin;cisplatin;etoposide	Alopecia;Pain;Testicular Neoplasms

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1050565	BLMH	3	4.50	1	bleomycin;cisplatin;etoposide

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tretinoin	decreases expression, increases expression	3
Cadmium Chloride	increases abundance, increases palmitoylation, decreases expression, decreases reaction	3
bisphenol A	decreases expression	2
sodium arsenate	decreases expression, increases abundance	2
sodium arsenite	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Valproic Acid	affects expression, increases expression	2
triphenyl phosphate	affects expression	1
pirinixic acid	increases expression, affects binding, increases activity	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
perfluorooctanoic acid	increases expression	1
ochratoxin A	increases expression	1
tamibarotene	decreases 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, increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	decreases expression	1
bisphenol S	decreases methylation	1
LDN 193189	affects cotreatment, increases expression	1
picoxystrobin	increases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Aspirin	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Bleomycin	affects response to substance	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Cisplatin	increases expression	1
Dactinomycin	increases secretion, affects cotreatment	1

ChEMBL screening assays

4 unique, capped per target: 4 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4232610	ADMET	Substrate activity at recombinant human N-terminal His6-tagged BLMH expressed in Escherichia coli BL21(DE3) measured after 1 hr by HPLC-based Michaelis-Menten plot analysis	Activities of recombinant human bleomycin hydrolase on bleomycins and engineered analogues revealing new opportunities to overcome bleomycin-induced pulmonary toxicity. — Bioorg Med Chem Lett

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1LA	Abcam HeLa BLMH KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04520308	PHASE4	UNKNOWN	An Open-label, Single-arm Longitudinal Study With Dupilumab for Patients With Atopic Dermatitis
NCT02380573	PHASE2	COMPLETED	Effects of Methylene Blue in Healthy Aging, Mild Cognitive Impairment and Alzheimer’s Disease
NCT03806478	PHASE2	UNKNOWN	Study of APH-1105 in Patients With Mild to Moderate Alzheimer’s Disease
NCT07011706	PHASE2	ACTIVE_NOT_RECRUITING	ATI-045 Versus Placebo in Patients With Moderate-to-Severe Atopic Dermatitis
NCT07252440	PHASE2	RECRUITING	A Study to Evaluate the Efficacy and Safety of TTYP01 Tablets in Early Symptomatic Alzheimer’s Disease
NCT03932916	PHASE1	COMPLETED	Safety and Pharmacokinetic of Donepezil Pamoate in Healthy Subjects
NCT06593626	PHASE1	COMPLETED	A Phase I Clinical Study on the Safety and Pharmacokinetics of [18F]Florbetazine Injection
NCT05984784	PHASE1/PHASE2	TERMINATED	A Study to Evaluate the Safety, Pharmacokinetics, and Efficacy of IMG-007 in Adults With Atopic Dermatitis (AD)
NCT01733355	EARLY_PHASE1	TERMINATED	A Phase 0, Open Label, Multi-center Exploratory and Safety Study of [F-18]T807
NCT05469009	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Safety and Feasibility of Exablate Blood-Brain Barrier Disruption for Mild Cognitive Impairment or Mild Alzheimer’s Disease Undergoing Standard of Care Monoclonal Antibody (mAb) Therapy
NCT01190904	Not specified	COMPLETED	Hormones and Sexual Function Predict Outcomes in Revascularized Men With Diabetes
NCT02273895	Not specified	COMPLETED	The Use of EEG in Alzheimer’s Disease, With and Without Scopolamine - A Pilot Study
NCT04100889	Not specified	WITHDRAWN	A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Alzheimer’s Disease
NCT05078944	Not specified	COMPLETED	Progress of Mild Alzheimer’s Disease in Participants on Acupuncture Versus Sham Acupuncture
NCT05372458	Not specified	UNKNOWN	The Mechanism Study of Diabetic Pancreatic Amyloid Deposition on Cognitive Dysfunction in Alzheimer’s Disease
NCT05637801	Not specified	ACTIVE_NOT_RECRUITING	A Pivotal Study of Sensory Stimulation in Alzheimer’s Disease (HOPE Study)
NCT06039267	Not specified	COMPLETED	Brain Health & the Microbiome
NCT06155201	Not specified	UNKNOWN	Development and Application of Intelligent Diagnosis and Treatment Norms for Children and Adolescents With Mental Disorders
NCT06245031	Not specified	ENROLLING_BY_INVITATION	Extension to a Pivotal Study of Sensory Stimulation in Alzheimer’s Disease (OLE Hope Study, CA-0015)
NCT06335836	Not specified	RECRUITING	The Effects of Social Isolation and Social Interaction on the Risk of Dementia Progression and Brain Function in SCD (Subjective Cognitive Decline, SCD)
NCT07100470	Not specified	NOT_YET_RECRUITING	Metabolic Characterization of Alzheimer’s Disease and Frontotemporal Dementia by 23Na-MRI and FDG-PET