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    DMBX1 diencephalon/mesencephalon homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 127343, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DMBX1provided by HGNC
    Official Full Name
    diencephalon/mesencephalon homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:19026
    See related
    Ensembl:ENSG00000197587 MIM:607410; AllianceGenome:HGNC:19026
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Atx; MBX; OTX3; PAXB
    Summary
    This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See DMBX1 in Genome Data Viewer
    Location:
    1p33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46489836..46516216)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46367063..46393431)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46955508..46981888)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1003 Neighboring gene fatty acid amide hydrolase pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46913491-46914002 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46914003-46914516 Neighboring gene long intergenic non-protein coding RNA 1398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46923637-46924504 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46932086-46932802 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46932803-46933519 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46951173-46951720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46955716-46956520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46957329-46957982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46957983-46958634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46977425-46978070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46982609-46983460 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:46987892-46988843 and GRCh37_chr1:46988844-46989794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46989795-46990745 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:46990746-46991695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 847 Neighboring gene CRISPRi-validated cis-regulatory element chr1.5857 Neighboring gene transmembrane protein 275 Neighboring gene MKNK1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47013004-47013504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47013505-47014005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47015442-47016081 Neighboring gene kinocilin

    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. Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract. Miyamoto T, et al. Turk J Pediatr, 2007 Jul-Sep. PMID 17990594
    2. The homeobox gene mbx is involved in eye and tectum development. Kawahara A, et al. Dev Biol, 2002 Aug 1. PMID 12142024
    3. DMBX1 promotes tumor proliferation and regulates cell cycle progression via repressing OTX2-mediated transcription of p21 in lung adenocarcinoma cell. Luo J, et al. Cancer Lett, 2019 Jul 1. PMID 30928384
    4. Epigenome-wide association data implicates DNA methylation-mediated genetic risk in psoriasis. Zhou F, et al. Clin Epigenetics, 2016. PMID 27980695, Free PMC Article
    5. Identification, tissue expression, and functional characterization of Otx3, a novel member of the Otx family. Zhang Y, et al. J Biol Chem, 2002 Aug 2. PMID 12055180

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Authors found that the function of DMBX1 was dependent on p21 (CDKN1A), a key regulator of G1/S cell cycle progression. Co-IP assay revealed that DMBX1 directly bound to another homeobox transcription factor, OTX2. ChIP and luciferase reporter assay confirmed that OTX2 directly interacted with the promoter region of p21 to enhance its transcription, and DMBX1 repressed OTX2-mediated transcription of p21.
      Title: DMBX1 promotes tumor proliferation and regulates cell cycle progression via repressing OTX2-mediated transcription of p21 in lung adenocarcinoma cell.
    2. Results found that CpG sites of C1orf106, DMBX1, and SIK3 mediate the genetic risk of psoriasis in Chinese Han population.
      Title: Epigenome-wide association data implicates DNA methylation-mediated genetic risk in psoriasis.
    3. no indications were found for an association between the MBX gene and microphthalmia with congenital cataract in humans
      Title: Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract.
    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
    An atlas of genetic influences on human blood metabolites.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adult feeding behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in brain development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in central nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in developmental growth ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    diencephalon/mesencephalon homeobox protein 1
    Names
    homeoprotein MBX
    orthodenticle homolog 3
    paired-like homeobox protein DMBX1

    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.

    Genomic

    1. NG_050727.1 RefSeqGene

      Range
      5000..31380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001387775.1 → NP_001374704.1  diencephalon/mesencephalon homeobox protein 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL137797
      Consensus CDS
      CCDS536.1
      Conserved Domains (2) summary
      pfam00046
      Location:69 → 123
      Homeobox; Homeobox domain
      pfam03826
      Location:352 → 368
      OAR; OAR domain

    2. NM_001387776.1 → NP_001374705.1  diencephalon/mesencephalon homeobox protein 1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL137797
      Consensus CDS
      CCDS90942.1
      UniProtKB/Swiss-Prot
      A6NNN2, Q8NFW5, Q8NFW6, Q8NHD9
      Conserved Domains (2) summary
      pfam00046
      Location:74 → 128
      Homeobox; Homeobox domain
      pfam03826
      Location:357 → 373
      OAR; OAR domain

    3. NM_147192.4 → NP_671725.1  diencephalon/mesencephalon homeobox protein 1 isoform b

      See identical proteins and their annotated locations for NP_671725.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (b) is longer than isoform a.
      Source sequence(s)
      AL137797
      Consensus CDS
      CCDS90942.1
      UniProtKB/Swiss-Prot
      A6NNN2, Q8NFW5, Q8NFW6, Q8NHD9
      Conserved Domains (2) summary
      pfam00046
      Location:74 → 128
      Homeobox; Homeobox domain
      pfam03826
      Location:357 → 373
      OAR; OAR domain

    4. NM_172225.2 → NP_757379.1  diencephalon/mesencephalon homeobox protein 1 isoform a

      See identical proteins and their annotated locations for NP_757379.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (a).
      Source sequence(s)
      AL137797
      Consensus CDS
      CCDS536.1
      UniProtKB/Swiss-Prot
      Q8NFW5
      Related
      ENSP00000353132.3, ENST00000360032.4
      Conserved Domains (2) summary
      pfam00046
      Location:69 → 123
      Homeobox; Homeobox domain
      pfam03826
      Location:352 → 368
      OAR; OAR 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      46489836..46516216
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      46367063..46393431
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFW5.1 GenPept UniProtKB/Swiss-Prot:Q8NFW5

    Gene LinkOut

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

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