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

    Gene ID: 26002, updated on 27-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
    mouse all
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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
    • 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)

    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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