Hmx1
Gene Detail

Symbol Name ID

Hmx1 H6 homeobox 1 MGI:107178

Synonyms

Nkx5-3

Feature Type

protein coding gene

Genetic Map

Chromosome 5

18.14 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)

Sequence Map

Chr5:35388858-35399730 bp, + strand From VEGA annotation of GRCm38   10873 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:49241  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken

Gene Tree: Hmx1

Human homologs

Human Homolog		HMX1, H6 family homeobox 1
NCBI Gene ID		3166
neXtProt AC		NX_Q9NP08
Human Synonyms		H6, NKX5-3
Human Chr (Location)		4p16.1; chr4:8868773-8873543 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human HMX1

Alleles and phenotypes

All alleles(3) : Targeted(1) Spontaneous(1) Chemically induced(1)
 

Mice homozygous for a spontaneous mutation show perinatal lethality, reduced body mass and low set, laterally-protruding ears. In addition to these phenotypes, mice homozygous for an ENU mutation can display small eyes, mild cranial defects, and perinatal semilethality associated with exencephaly.

 
Human Diseases Modeled Using Mouse Hmx1 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(6)

Gene Ontology (GO) classifications

All GO classifications: (12 annotations)

Process	multicellular organismal development, negative regulation of transcription, DNA-dependent, ...
Component	nucleus
Function	DNA binding, sequence-specific DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (11 records)
Data Summary: Results (111)    Tissues (95)    Images (26)
Theiler Stages: 17, 18, 20, 21, 22, 23, 26, 28

Assay Type	Results
RNA in situ	111

cDNA source data(4)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(9) Genomic(3) cDNA(4) Primer pair(1) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000037283 (Evidence)
Ensembl Gene Model	ENSMUSG00000067438 (Evidence)
Entrez Gene	15371 (Evidence)
NIA Mouse Gene Index	U005499
Consensus CDS Project	CCDS19228.1
International Mouse Knockout Project Status	Hmx1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000037283	VEGA Gene Model | MGI Sequence Detail	10873	C57BL/6J
transcript	OTTMUST00000096187	VEGA | MGI Sequence Detail	2169	Not Applicable
polypeptide	OTTMUSP00000053711	VEGA | MGI Sequence Detail	332	Not Applicable

All sequences(20) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(4 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017970	Homeobox, conserved site
InterPro	IPR001356	Homeodomain
InterPro	IPR009057	Homeodomain-like
InterPro	IPR020479	Homeodomain, metazoa
Protein Ontology	PR:000008646	homeobox protein HMX1

References

(Earliest) J:139486 Mentzer RM, et al., The effects of dopamine and isoproterenol on the pulmonary circulation. J Thorac Cardiovasc Surg. 1976 Jun;71(6):807-14
(Latest) J:192680 Quina LA, et al., Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation. Dis Model Mech. 2012 Nov;5(6):812-22
All references(42)

Other accession IDs

MGD-MRK-35639