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MOXD1 monooxygenase DBH like 1 [ Homo sapiens (human) ]

Gene ID: 26002, updated on 3-Nov-2024

Summary

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Official Symbol
MOXD1provided by HGNC
Official Full Name
monooxygenase DBH like 1provided by HGNC
Primary source
HGNC:HGNC:21063
See related
Ensembl:ENSG00000079931 MIM:609000; AllianceGenome:HGNC:21063
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MOX; PRO5780; dJ248E1.1
Summary
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. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in endometrium (RPKM 34.3), adrenal (RPKM 21.6) and 17 other tissues See more
Orthologs
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Genomic context

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See MOXD1 in Genome Data Viewer
Location:
6q23.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (132296055..132401475, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (133491085..133596511, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (132617194..132722614, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:132453077-132454276 Neighboring gene long intergenic non-protein coding RNA 1013 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 36 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:132675510-132676709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17549 Neighboring gene Sharpr-MPRA regulatory region 15532 Neighboring gene syntaxin 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25071 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:132833503-132834004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25072 Neighboring gene ribosomal protein L21 pseudogene 66

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. MOXD1 is a lineage-specific gene and a tumor suppressor in neuroblastoma. Fredlund E, et al. Sci Adv, 2024 Jun 21. PMID 38905335, Free PMC Article
  2. Identification and cloning of a sequence homologue of dopamine beta-hydroxylase. Chambers KJ, et al. Gene, 1998 Sep 18. PMID 9751809
  3. RNA N6-methyladenosine demethylase FTO targets MOXD1 promoting the malignant phenotype of gastric cancer. Lai Y, et al. BMC Gastroenterol, 2024 Jan 10. PMID 38200441, Free PMC Article
  4. Monooxygenase X, a member of the copper-dependent monooxygenase family localized to the endoplasmic reticulum. Xin X, et al. J Biol Chem, 2004 Nov 12. PMID 15337741
  5. Crosstalk between leukemia-associated proteins MOZ and MLL regulates HOX gene expression in human cord blood CD34+ cells. Paggetti J, et al. Oncogene, 2010 Sep 9. PMID 20581860

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MOXD1 is a lineage-specific gene and a tumor suppressor in neuroblastoma.
    Title: MOXD1 is a lineage-specific gene and a tumor suppressor in neuroblastoma.
  2. RNA N6-methyladenosine demethylase FTO targets MOXD1 promoting the malignant phenotype of gastric cancer.
    Title: RNA N6-methyladenosine demethylase FTO targets MOXD1 promoting the malignant phenotype of gastric cancer.
  3. Based on its sequence and localization, MOX (monooxygenase X) is predicted to hydroxylate a hydrophobic substrate in the endoplasmic reticulum.
    Title: Monooxygenase X, a member of the copper-dependent monooxygenase family localized to the endoplasmic reticulum.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of monooxygenase, DBH-like 1 (MOXD1) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp564G202

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables copper ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dopamine beta-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in dopamine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in norepinephrine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in octopamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in secretory granule membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
DBH-like monooxygenase protein 1
Names
dopamine-oxygenase
monooxygenase X

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015529.4 → NP_056344.2  DBH-like monooxygenase protein 1 precursor

    See identical proteins and their annotated locations for NP_056344.2

    Status: VALIDATED

    Source sequence(s)
    AJ420565, AK074879, AY007239, BC018756
    Consensus CDS
    CCDS5152.2
    UniProtKB/Swiss-Prot
    Q5THU6, Q6UVY6, Q8NC97, Q8WV49, Q9H4M6, Q9Y4U3
    Related
    ENSP00000356940.3, ENST00000367963.8
    Conserved Domains (3) summary
    cd09631
    Location:29 → 165
    DOMON_DOH; DOMON-like domain of copper-dependent monooxygenases and related proteins
    pfam01082
    Location:186 → 312
    Cu2_monooxygen; Copper type II ascorbate-dependent monooxygenase, N-terminal domain
    pfam03712
    Location:335 → 482
    Cu2_monoox_C; Copper type II ascorbate-dependent monooxygenase, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    132296055..132401475 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010714.3 → XP_016866203.1  DBH-like monooxygenase protein 1 isoform X1

  2. XM_047418622.1 → XP_047274578.1  DBH-like monooxygenase protein 1 isoform X3

  3. XM_047418621.1 → XP_047274577.1  DBH-like monooxygenase protein 1 isoform X2

    Related
    ENSP00000336998.3, ENST00000336749.3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    133491085..133596511 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355127.1 → XP_054211102.1  DBH-like monooxygenase protein 1 isoform X1

  2. XM_054355129.1 → XP_054211104.1  DBH-like monooxygenase protein 1 isoform X3

  3. XM_054355128.1 → XP_054211103.1  DBH-like monooxygenase protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UVY6.1 GenPept UniProtKB/Swiss-Prot:Q6UVY6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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