MOXD1

gene
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Also known as DKFZP564G202MOXdJ248E1.1

Summary

MOXD1 (monooxygenase DBH like 1, HGNC:21063) is a protein-coding gene on chromosome 6q23.2, encoding DBH-like monooxygenase protein 1 (Q6UVY6).

Predicted to enable copper ion binding activity and dopamine beta-monooxygenase activity. Predicted to be involved in dopamine catabolic process; norepinephrine biosynthetic process; and octopamine biosynthetic process. Part of endoplasmic reticulum membrane.

Source: NCBI Gene 26002 — RefSeq curated summary.

At a glance

  • GWAS associations: 8
  • Clinical variants (ClinVar): 101 total
  • MANE Select transcript: NM_015529

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21063
Approved symbolMOXD1
Namemonooxygenase DBH like 1
Location6q23.2
Locus typegene with protein product
StatusApproved
AliasesDKFZP564G202, MOX, dJ248E1.1
Ensembl geneENSG00000079931
Ensembl biotypeprotein_coding
OMIM609000
Entrez26002

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000336749, ENST00000367963, ENST00000392401, ENST00000489128, ENST00000897946, ENST00000897947, ENST00000897948, ENST00000897949, ENST00000940885, ENST00000940886, ENST00000940887

RefSeq mRNA: 1 — MANE Select: NM_015529 NM_015529

CCDS: CCDS5152

Canonical transcript exons

ENST00000367963 — 12 exons

ExonStartEnd
ENSE00000763967132328013132328115
ENSE00000798735132297787132297955
ENSE00000798736132315635132315777
ENSE00000919221132372830132372997
ENSE00001014944132372608132372691
ENSE00001014945132374631132374777
ENSE00001014946132328415132328594
ENSE00001446002132296055132297317
ENSE00001906046132401163132401475
ENSE00003491641132323931132324097
ENSE00003514003132322679132322870
ENSE00003581619132320629132320688

Expression profiles

Bgee: expression breadth ubiquitous, 229 present calls, max score 98.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4273 / max 719.4897, expressed in 1078 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
7559320.02491069
755911.1606530
755920.2418130

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
ventricular zoneUBERON:000305398.31gold quality
ganglionic eminenceUBERON:000402396.69gold quality
cartilage tissueUBERON:000241896.04gold quality
periodontal ligamentUBERON:000826692.38gold quality
metanephros cortexUBERON:001053391.67gold quality
gall bladderUBERON:000211091.34gold quality
body of uterusUBERON:000985390.92gold quality
stromal cell of endometriumCL:000225590.43gold quality
endometriumUBERON:000129588.85gold quality
mucosa of stomachUBERON:000119988.57gold quality
myometriumUBERON:000129688.49gold quality
left adrenal glandUBERON:000123487.87gold quality
cauda epididymisUBERON:000436087.83gold quality
left adrenal gland cortexUBERON:003582587.73gold quality
uterusUBERON:000099587.16gold quality
right adrenal glandUBERON:000123386.79gold quality
adrenal cortexUBERON:000123586.78gold quality
esophagus mucosaUBERON:000246986.78gold quality
smooth muscle tissueUBERON:000113586.69gold quality
upper lobe of left lungUBERON:000895286.57gold quality
esophagusUBERON:000104386.54gold quality
upper lobe of lungUBERON:000894886.47gold quality
lower esophagusUBERON:001347386.16gold quality
lower esophagus muscularis layerUBERON:003583386.13gold quality
right adrenal gland cortexUBERON:003582786.11gold quality
adrenal glandUBERON:000236985.94gold quality
esophagogastric junction muscularis propriaUBERON:003584185.62gold quality
embryoUBERON:000092285.04gold quality
lower esophagus mucosaUBERON:003583484.31gold quality
caudate nucleusUBERON:000187383.94gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-GEOD-124472yes479.96
E-HCAD-10yes68.98
E-ANND-3yes4.68
E-ENAD-20no2424.63
E-MTAB-6911no147.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting MOXD1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-4533100.0069.482758
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-186-5P99.9970.833707
HSA-MIR-318599.9968.121959
HSA-MIR-569699.9872.364487
HSA-MIR-3065-5P99.9771.563281
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562
HSA-MIR-570-3P99.9672.414910
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-651-3P99.9473.485177
HSA-MIR-6508-5P99.9270.672465
HSA-MIR-3529-3P99.9073.553045
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-427199.8868.322244
HSA-MIR-477999.8666.501583
HSA-MIR-806799.8669.592260
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-548AZ-5P99.8369.943230
HSA-MIR-548T-5P99.8369.913220
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-313399.8170.923506
HSA-MIR-4802-3P99.7270.131273
HSA-MIR-149-3P99.7268.223963

Literature-anchored findings (GeneRIF, showing 3)

  • Based on its sequence and localization, MOX (monooxygenase X) is predicted to hydroxylate a hydrophobic substrate in the endoplasmic reticulum. (PMID:15337741)
  • RNA N6-methyladenosine demethylase FTO targets MOXD1 promoting the malignant phenotype of gastric cancer. (PMID:38200441)
  • MOXD1 is a lineage-specific gene and a tumor suppressor in neuroblastoma. (PMID:38905335)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriomoxd1ENSDARG00000031136
mus_musculusMoxd1ENSMUSG00000020000
rattus_norvegicusMoxd1ENSRNOG00000015321
drosophila_melanogasterCG5235FBGN0036565
drosophila_melanogasterolf413FBGN0037153

Paralogs (1): DBH (ENSG00000123454)

Protein

Protein identifiers

DBH-like monooxygenase protein 1Q6UVY6 (reviewed: Q6UVY6)

Alternative names: Monooxygenase X

All UniProt accessions (2): Q6UVY6, A6PVS1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Highly expressed in lung, kidney, brain and spinal cord.

Post-translational modifications. N-glycosylated.

Cofactor. Binds 2 copper ions per subunit.

Induction. By replicative senescence.

Miscellaneous. Major.

Similarity. Belongs to the copper type II ascorbate-dependent monooxygenase family.

Isoforms (2)

UniProt IDNamesCanonical?
Q6UVY6-11, Longyes
Q6UVY6-22, Short

RefSeq proteins (1): NP_056344* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000323Cu2_ascorb_mOase_NDomain
IPR000945DBH-likeFamily
IPR005018DOMON_domainDomain
IPR008977PHM/PNGase_F_dom_sfHomologous_superfamily
IPR014784Cu2_ascorb_mOase-like_CHomologous_superfamily
IPR024548Cu2_monoox_CDomain
IPR028460Tbh/DBHFamily
IPR036939Cu2_ascorb_mOase_N_sfHomologous_superfamily
IPR045266DOH_DOMONDomain

Pfam: PF01082, PF03351, PF03712

UniProt features (29 total): binding site 6, disulfide bond 5, glycosylation site 4, sequence conflict 3, splice variant 2, sequence variant 2, active site 2, signal peptide 1, chain 1, topological domain 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6UVY6-F189.340.75

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 (2): 203; 389

Ligand- & substrate-binding residues (6): 389; 391; 464; 235; 236; 307

Disulfide bonds (5): 205–257, 242–269, 364–480, 368–550, 443–465

Glycosylation sites (4): 114, 247, 476, 517

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 160 (showing top): GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_PHENOL_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOCC_SECRETORY_GRANULE, PEREZ_TP63_TARGETS, CHANDRAN_METASTASIS_DN, BOHN_PRIMARY_IMMUNODEFICIENCY_SYNDROM_DN, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_DOPAMINE_METABOLIC_PROCESS, RIGGI_EWING_SARCOMA_PROGENITOR_DN, ONDER_CDH1_TARGETS_2_UP, VANHARANTA_UTERINE_FIBROID_DN, RICKMAN_HEAD_AND_NECK_CANCER_A, AACTTT_UNKNOWN

GO Biological Process (3): octopamine biosynthetic process (GO:0006589), dopamine catabolic process (GO:0042420), norepinephrine biosynthetic process (GO:0042421)

GO Molecular Function (8): dopamine beta-monooxygenase activity (GO:0004500), copper ion binding (GO:0005507), catalytic activity (GO:0003824), monooxygenase activity (GO:0004497), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715), metal ion binding (GO:0046872)

GO Cellular Component (5): obsolete extracellular space (GO:0005615), endoplasmic reticulum membrane (GO:0005789), secretory granule membrane (GO:0030667), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
biogenic amine biosynthetic process1
alcohol biosynthetic process1
phenol-containing compound biosynthetic process1
octopamine metabolic process1
dopamine metabolic process1
catecholamine catabolic process1
norepinephrine metabolic process1
catecholamine biosynthetic process1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen1
transition metal ion binding1
molecular_function1
oxidoreductase activity1
binding1
catalytic activity1
monooxygenase activity1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen1
cation binding1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
secretory granule1
cytoplasmic vesicle membrane1
bounding membrane of organelle1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
cellular anatomical structure1

Protein interactions and networks

STRING

946 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MOXD1TAAR5O14804905
MOXD1STX7O15400859
MOXD1TAAR6Q96RI8757
MOXD1CPLX3Q8WVH0548
MOXD1PF4P02776447
MOXD1SRXN1Q9BYN0447
MOXD1SLC18B1Q6NT16439
MOXD1HMOX1P09601432
MOXD1TMEM163Q8TC26431
MOXD1HOPXQ9BPY8425
MOXD1NCF1P14598418
MOXD1UBDO15205418
MOXD1CYBAP13498415
MOXD1LIX1Q8N485410
MOXD1FYNP06241409

IntAct

61 interactions, top by confidence:

ABTypeScore
GLRX3MOXD1psi-mi:“MI:0915”(physical association)0.780
MOXD1GLRX3psi-mi:“MI:0915”(physical association)0.780
C1QTNF9C1QTNF9Bpsi-mi:“MI:0914”(association)0.780
MOXD1GPAA1psi-mi:“MI:0914”(association)0.620
MOXD1GPAA1psi-mi:“MI:0915”(physical association)0.620
SCGB1D1FAM234Bpsi-mi:“MI:0914”(association)0.530
DEFA1MANBApsi-mi:“MI:0914”(association)0.530
TAFA4NRP1psi-mi:“MI:0914”(association)0.530
CMA1MANBApsi-mi:“MI:0914”(association)0.530
CTSGMANBApsi-mi:“MI:0914”(association)0.530
DNAJC3DEDDpsi-mi:“MI:0914”(association)0.530
ACACBMOXD1psi-mi:“MI:0915”(physical association)0.400
GPC1SNAP23psi-mi:“MI:0915”(physical association)0.400
GPC1GANABpsi-mi:“MI:0915”(physical association)0.400
CSNK2BMOXD1psi-mi:“MI:0915”(physical association)0.370
TRAF2UMAD1psi-mi:“MI:0914”(association)0.350
RBCK1UMAD1psi-mi:“MI:0914”(association)0.350
SHARPINMAP3K7psi-mi:“MI:0914”(association)0.350
TANKCNOT1psi-mi:“MI:0914”(association)0.350
TNIP2CHUKpsi-mi:“MI:0914”(association)0.350
TRAF2TMEM178Bpsi-mi:“MI:0914”(association)0.350
RBCK1KHNYNpsi-mi:“MI:0914”(association)0.350
SHARPINUMAD1psi-mi:“MI:0914”(association)0.350
TNIP1COCHpsi-mi:“MI:0914”(association)0.350
TNIP2TMEM178Bpsi-mi:“MI:0914”(association)0.350

BioGRID (68): MOXD1 (Two-hybrid), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS), GPAA1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2D0TC04, A2VDP5, B0BND0, F1N5C8, J3SBP3, J3SEZ3, O14638, O62806, O94323, P06802, P0DQQ4, P23188, P23377, P29119, P54793, P70699, P84039, P97675, Q0VA77, Q29444, Q32KH8, Q4FZV0, Q566N0, Q58D68, Q5BKW7, Q5FYA8, Q5R5M5, Q5RAC0, Q5RB45, Q6AX80, Q6DDP3, Q6DYE8, Q6P179, Q6P7A9, Q6UVY6, Q6UWR7, Q8BGN3, Q8BTJ4, Q8C129, Q8IVL8

Diamond homologs: A6NHM9, P09172, P15101, Q05754, Q08CS6, Q5TZ24, Q64237, Q68CI2, Q6UVY6, Q7TT41, Q86B61, Q98ST7, Q9CXI3, Q9XTA0, Q61P40, Q9VUY0, Q9XTQ6, Q6NP60, P08478

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 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:

PathwayPartnersFoldFDR
TNFR1-induced NF-kappa-B signaling pathway532.3×1e-04
Neutrophil degranulation104.4×7e-03

GO biological processes:

GO termPartnersFoldFDR
canonical NF-kappaB signal transduction632.3×2e-05
negative regulation of canonical NF-kappaB signal transduction615.2×4e-04
positive regulation of canonical NF-kappaB signal transduction77.5×4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance93
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2035 predictions. Top by Δscore:

VariantEffectΔscore
6:132297785:A:ACdonor_gain1.0000
6:132297786:C:CCdonor_gain1.0000
6:132297956:C:CCacceptor_gain1.0000
6:132315633:A:ACdonor_gain1.0000
6:132315634:C:CCdonor_gain1.0000
6:132315634:CGTGA:Cdonor_gain1.0000
6:132315776:CC:Cacceptor_gain1.0000
6:132315777:CC:Cacceptor_gain1.0000
6:132320627:A:ACdonor_gain1.0000
6:132320627:AC:Adonor_gain1.0000
6:132320628:C:CCdonor_gain1.0000
6:132320628:CC:Cdonor_gain1.0000
6:132320684:TCTCC:Tacceptor_gain1.0000
6:132320685:CTCC:Cacceptor_gain1.0000
6:132320685:CTCCC:Cacceptor_gain1.0000
6:132320686:TCCCT:Tacceptor_gain1.0000
6:132320687:CC:Cacceptor_gain1.0000
6:132320687:CCCT:Cacceptor_loss1.0000
6:132320688:CC:Cacceptor_gain1.0000
6:132320689:C:Aacceptor_loss1.0000
6:132320690:TGAAA:Tacceptor_loss1.0000
6:132322677:A:ACdonor_gain1.0000
6:132322678:C:CCdonor_gain1.0000
6:132322698:T:TAdonor_gain1.0000
6:132322699:C:Adonor_gain1.0000
6:132322712:AAACT:Adonor_gain1.0000
6:132322768:T:TAdonor_gain1.0000
6:132322769:C:Adonor_gain1.0000
6:132328444:CAGTT:Cdonor_gain1.0000
6:132372828:A:ACdonor_gain1.0000

AlphaMissense

4057 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:132315697:A:CS482R0.999
6:132315697:A:TS482R0.999
6:132315699:T:GS482R0.999
6:132297815:C:GC550S0.998
6:132297816:A:TC550S0.998
6:132297877:C:AW529C0.998
6:132297877:C:GW529C0.998
6:132315703:A:CC480W0.998
6:132315705:A:GC480R0.998
6:132315748:A:CC465W0.998
6:132320678:A:GL439P0.998
6:132323952:G:CC364W0.998
6:132323953:C:TC364Y0.998
6:132328452:C:TC269Y0.998
6:132297790:C:AW558C0.997
6:132297790:C:GW558C0.997
6:132297816:A:GC550R0.997
6:132297949:C:AW505C0.997
6:132297949:C:GW505C0.997
6:132315704:C:GC480S0.997
6:132315704:C:TC480Y0.997
6:132315705:A:TC480S0.997
6:132315749:C:GC465S0.997
6:132315750:A:GC465R0.997
6:132315750:A:TC465S0.997
6:132320666:C:GC443S0.997
6:132320667:A:TC443S0.997
6:132323942:A:GC368R0.997
6:132323954:A:GC364R0.997
6:132324006:G:CS346R0.997

dbSNP variants (sampled 300 via entrez): RS1000000881 (6:132333063 G>A), RS1000012224 (6:132356731 C>A,T), RS1000027647 (6:132338426 A>T), RS1000067716 (6:132392563 G>T), RS1000080956 (6:132350577 T>C), RS1000131609 (6:132311506 T>C), RS1000174829 (6:132341211 G>A), RS1000199166 (6:132304167 A>G), RS1000237390 (6:132308865 T>C), RS1000242286 (6:132355643 C>T), RS1000270916 (6:132399745 C>G), RS1000348297 (6:132304465 G>A,T), RS1000361805 (6:132321186 C>G,T), RS1000385926 (6:132386781 A>C,G), RS1000423501 (6:132386428 C>A)

Disease associations

OMIM: gene MIM:609000 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

StudyTraitp-value
GCST001762_459Obesity-related traits2.000000e-06
GCST001762_533Obesity-related traits2.000000e-06
GCST001762_539Obesity-related traits5.000000e-06
GCST001762_583Obesity-related traits9.000000e-06
GCST001762_615Obesity-related traits1.000000e-07
GCST001762_681Obesity-related traits1.000000e-06
GCST001762_89Obesity-related traits1.000000e-07
GCST008839_579Height3.000000e-10

EFO canonical traits (5, from GWAS)

EFO IDTrait name
EFO:0005109energy expenditure
EFO:0004887maximal oxygen uptake measurement
EFO:0004338body weight
EFO:0005106body composition measurement
EFO:0004995lean body mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression, affects expression, affects cotreatment7
Arsenicdecreases expression, increases abundance, affects cotreatment3
Benzo(a)pyreneaffects methylation, increases expression2
Cadmiumincreases palmitoylation, increases expression, decreases reaction, increases abundance2
Cadmium Chlorideincreases palmitoylation, increases expression, decreases reaction, increases abundance2
aristolochic acid Idecreases expression1
GSK-J4increases expression1
propionaldehydeincreases expression1
pirinixic acidaffects binding, decreases expression, increases activity1
sodium arsenateincreases abundance, decreases expression1
terbufosincreases methylation1
trichostatin Adecreases expression1
arseniteincreases methylation1
sulforaphanedecreases expression1
sodium arseniteaffects cotreatment, decreases expression, increases abundance1
butyraldehydeincreases expression1
2-bromopalmitatedecreases reaction, increases abundance, increases palmitoylation1
manganese chlorideincreases abundance, affects cotreatment, decreases expression1
nickel sulfateincreases expression1
pentanalincreases expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
quinocetoneincreases expression1
dorsomorphinaffects cotreatment, increases expression1
jinfukangdecreases expression, affects cotreatment1
incobotulinumtoxinAincreases expression1
Zoledronic Acidincreases expression1
Vorinostatdecreases expression1
Acetaminophenincreases expression1
Aldehydesincreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.