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

Gene ID: 127343, updated on 11-Jun-2021

Summary

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
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
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

See DMBX1 in Genome Data Viewer
Location:
1p33
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (46489836..46516216)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46955508..46981888)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene fatty acid amide hydrolase pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 1398 Neighboring gene CRISPRi-validated cis-regulatory element chr1.5850 Neighboring gene transmembrane protein 275

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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 transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001387775.1NP_001374704.1  diencephalon/mesencephalon homeobox protein 1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AL137797
    Conserved Domains (2) summary
    pfam00046
    Location:69123
    Homeobox; Homeobox domain
    pfam03826
    Location:352368
    OAR; OAR domain
  2. NM_001387776.1NP_001374705.1  diencephalon/mesencephalon homeobox protein 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL137797
    Related
    ENSP00000361024.4, ENST00000371956.8
    Conserved Domains (2) summary
    pfam00046
    Location:74128
    Homeobox; Homeobox domain
    pfam03826
    Location:357373
    OAR; OAR domain
  3. NM_147192.4NP_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
    UniProtKB/Swiss-Prot
    Q8NFW5
    Conserved Domains (2) summary
    pfam00046
    Location:74128
    Homeobox; Homeobox domain
    pfam03826
    Location:357373
    OAR; OAR domain
  4. NM_172225.2NP_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:69123
    Homeobox; Homeobox domain
    pfam03826
    Location:352368
    OAR; OAR domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011540668.2XP_011538970.1  diencephalon/mesencephalon homeobox protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011538970.1

    UniProtKB/Swiss-Prot
    Q8NFW5
    Conserved Domains (2) summary
    pfam00046
    Location:69123
    Homeobox; Homeobox domain
    pfam03826
    Location:352368
    OAR; OAR domain
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