HMX1 - H6 family homeobox 1 Gene

Also Known as H6; NKX5-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3166

About HMX1

Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:8,846,076-8,871,839 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 188 orthologues, 3 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]

HMX1 Products (2)

mRNA	Protein	Name
NM_001306142.2	NP_001293071.1	homeobox protein HMX1 isoform 2
NM_018942.3	NP_061815.2	homeobox protein HMX1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables DNA binding	IMP IMP: Inferred from mutant phenotype	10206974	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	10206974	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

HMX1 Protein Structure

Homeobox

0
100
200
300
348 a.a.

Protein Preferred Names	Protein Names
homeobox protein HMX1	H6 homeodomain protein

Related Diseases

Diseases	Alias
Oculoauricular Syndrome	OCACS Schorderet-Munier-Franceschetti Syndrome Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear Oculoauricular Syndrome, Schorderet Type Oculo-Auricular Syndrome
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Cleft Palate, Cardiac Defects, And Mental Retardation	Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies CPCMR Cleft Palate, Cardiac Defects, And Intellectual Disabillity Cleft Palate, Cardiac Defects, And Intellectual Disability Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Entropion
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth

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.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS06252	HMX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HMX1	RGD	RGD:1304928
Bos taurus	HMX1	VGNC	VGNC:29887
Mus musculus	HMX1	MGD	MGI:107178
Macaca mulatta	HMX1	VGNC	VGNC:73490
Canis familiaris	HMX1	VGNC	VGNC:41721
Others	HMX1	NCBI