Hmx1 MGI Mouse Gene Detail - MGI:107178

Symbol

Hmx1
Name

H6 homeobox 1
Synonyms

Nkx5-3

Feature Type

protein coding gene
IDs

MGI:107178
NCBI Gene: 15371
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr5:35546452-35557074 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 18.14 cM
Mapping Data

7 experiments

SNPs within 2kb

357 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107178	protein coding gene	Chr5:35546124-35557629 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029478	protein coding gene	Chr5:33660583-33674324 (+)
A/J	MGP_AJ_G0029445	protein coding gene	Chr5:32570765-32582260 (+)
AKR/J	MGP_AKRJ_G0029394	protein coding gene	Chr5:33817474-33829075 (+)
BALB/cJ	MGP_BALBcJ_G0029455	protein coding gene	Chr5:33091684-33102468 (+)
C3H/HeJ	MGP_C3HHeJ_G0029177	protein coding gene	Chr5:33843122-33854651 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029909	protein coding gene	Chr5:35569232-35581340 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027146	protein coding gene	Chr5:30334092-30344912 (+)
CAST/EiJ	MGP_CASTEiJ_G0028586	protein coding gene	Chr5:32929656-32941851 (+)
CBA/J	MGP_CBAJ_G0029145	protein coding gene	Chr5:36399816-36414177 (+)
DBA/2J	MGP_DBA2J_G0029293	protein coding gene	Chr5:32718048-32728801 (+)
FVB/NJ	MGP_FVBNJ_G0029252	protein coding gene	Chr5:32173193-32184527 (+)
LP/J	MGP_LPJ_G0029378	protein coding gene	Chr5:34093307-34103971 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029282	protein coding gene	Chr5:37225695-37237649 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029942	protein coding gene	Chr5:33325017-33337187 (+)
PWK/PhJ	MGP_PWKPhJ_G0028311	protein coding gene	Chr5:31879866-31890513 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028142	protein coding gene	Chr5:32781508-32792162 (+)
WSB/EiJ	MGP_WSBEiJ_G0028667	protein coding gene	Chr5:33383779-33395338 (+)

Human Ortholog

HMX1, H6 family homeobox 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HMX1, H6 family homeobox 1
Synonyms

H6, NKX5-3
Links

HGNC:5017

NCBI Gene ID: 3166

neXtProt AC: NX_Q9NP08

UniProt: Q9NP08
Chr Location

4p16.1; chr4:8846076-8871839 (-) GRCh38

MGI Vertebrate Homology

Hmx1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HMX1
Gene Tree

Hmx1

Diseases

1 with Hmx1 mouse models; 1 with human HMX1 associations

Human Disease

Mouse Models

oculoauricular syndrome

IDs

View 2 models

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

17 phenotypes from 3 alleles in 3 genetic backgrounds
7 images
30 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

13
Chemically induced (ENU)

2
Chemically induced (other)

2
Endonuclease-mediated

1
Radiation induced

4
Spontaneous

2
Targeted

2
Genomic Mutations

8 involving Hmx1
Find Mice (IMSR)

10 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

16
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

900
Tissues

128
cDNA Data

4
Literature Summary

22

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA HMX1

Xenbase hmx1

ZFIN hmx1

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All Sequences

35
RefSeq

6
UniProt

2
CCDS

CCDS19228.1

Ensembl

ENSMUSG00000067438 (Evidence)
NCBI Gene

15371

			Length	Strain/Species	Flank
genomic	ENSMUSG00000067438	Ensembl Gene Model \| MGI Sequence Detail	10623	C57BL/6J	± kb
transcript	ENSMUST00000087674	Ensembl \| MGI Sequence Detail	1526	Not Applicable
polypeptide	ENSMUSP00000084958	Ensembl \| MGI Sequence Detail	332	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000008646 homeobox protein HMX1

(term hierarchy)
InterPro Domains

IPR051300 HMX Homeobox Transcription Factors

IPR017970 Homeobox, conserved site

IPR001356 Homeobox domain

IPR020479 Homeobox domain, metazoa

IPR009057 Homeobox-like domain superfamily

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All nucleic 14

Genomic 4

cDNA 5

Primer pair 3

Other 2

Microarray probesets 5

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MGD-MRK-35639

Summaries

All 74

Developmental Gene Expression 22

Diseases 2

Gene Ontology 6

Phenotypes 30
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

J:357469 Sivori M, et al., The pelvic organs receive no parasympathetic innervation. Elife. 2024;15

TSS for Hmx1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr45942	Chr5:35546188-35546226 (+)	-245 bp
Tssr45943	Chr5:35546271-35546276 (+)	-178 bp
Tssr45944	Chr5:35546307-35546318 (+)	-139 bp
Tssr45945	Chr5:35546362-35546375 (+)	-83 bp
Tssr45946	Chr5:35550182-35550186 (+)	3,732 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24