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

Gene ID: 127343, updated on 12-Sep-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
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Genomic context

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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)

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
part_of 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

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