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DMBX1 - diencephalon/mesencephalon homeobox 1 Gene

Also Known as Atx; MBX; OTX3; PAXB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 127343

About DMBX1

Cytogenetic location: 1p33 Genomic coordinates (GRCh38): 1:46,489,836-46,516,216 (from NCBI)

This gene has 2 transcripts (splice variants), 270 orthologues and 50 paralogues. Low expression observed in reference dataset.

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]

DMBX1 Products (4)

mRNA	Protein	Name
NM_001387775.1	NP_001374704.1	diencephalon/mesencephalon homeobox protein 1 isoform a
NM_001387776.1	NP_001374705.1	diencephalon/mesencephalon homeobox protein 1 isoform b
NM_147192.4	NP_671725.1	diencephalon/mesencephalon homeobox protein 1 isoform b
NM_172225.2	NP_757379.1	diencephalon/mesencephalon homeobox protein 1 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DMBX1 Protein Structure

Homeobox

OAR

0
100
200
300
382 a.a.

Protein Preferred Names	Protein Names
diencephalon/mesencephalon homeobox protein 1	homeoprotein MBX

Related Diseases

Diseases	Alias
Farsightedness	Hypermetropia Hyperopia Far-Sightedness Farsighted Long-Sighted Long-Sightedness
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Hypotonia
Pulmonary Aspergilloma
Ritscher-Schinzel Syndrome 1	3c Syndrome Craniocerebellocardiac Dysplasia RTSC1 Dandy-Walker-Like Malformation With Atrioventricular Septal Defect Dandy-Walker Like Malformation With Atrioventricular Septal Defect Cranio-Cerebello-Cardiac Dysplasia Dandy-Walker-Like Malformation With Asd Ritscher Schinzel Syndrome Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome Ritscher-Schinzel Syndrome 3c

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03821	DMBX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DMBX1	VGNC	VGNC:71861
Bos taurus	DMBX1	VGNC	VGNC:28104
Mus musculus	DMBX1	MGD	MGI:2153518
Felis catus	DMBX1	VGNC	VGNC:61525
Canis familiaris	DMBX1	VGNC	VGNC:39997
Rattus norvegicus	DMBX1	RGD	RGD:1308265
Others	DMBX1	NCBI