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Protein

Homeobox protein HMX3

Gene

Hmx3

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5'-CAAGTG-3' core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS.3 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi227 – 28660HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  • sequence-specific DNA binding Source: MGI

GO - Biological processi

  • brain development Source: MGI
  • cell differentiation Source: UniProtKB-KW
  • ear development Source: CACAO
  • embryo implantation Source: MGI
  • inner ear morphogenesis Source: MGI
  • maternal process involved in female pregnancy Source: MGI
  • neuromuscular process controlling balance Source: MGI
  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein HMX3
Alternative name(s):
Homeobox protein H6 family member 3
Homeobox protein Nkx-5.1
Gene namesi
Name:Hmx3
Synonyms:Nkx-5.1, Nkx5-1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 7

Organism-specific databases

MGIiMGI:107160. Hmx3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Disruption phenotypei

Mice display abnormal circling behavior and severe vestibular defects owing to a depletion of sensory cells in the saccule and utricle, and a complete loss of the horizontal semicircular canal crista, as well as a fusion of the utricle and saccule endolymphatic spaces into a common utriculosaccular cavity. Moreover, most females have a reproductive defect: females can be fertilized and their embryos undergo normal preimplantation development, but the embryos fail to implant successfully in the uterus and subsequently die. Mice lacking both Hmx2 and Hmx3 show a complete loss of balance, postnatal dwarfism, defects in neuroendocrine system, disturbed hypothalamic-pituitary axis and subsequent die. Defects caused in mice lacking both Hmx2 and Hmx3 can be rescued by expressing the Drosophila Hmx protein.3 Publications

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi276 – 2761Q → K: Abolishes DNA-binding. 1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 356356Homeobox protein HMX3PRO_0000048949Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei153 – 1531PhosphoserineBy similarity
Modified residuei180 – 1801PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP42581.
PaxDbiP42581.
PRIDEiP42581.

PTM databases

PhosphoSiteiP42581.

Expressioni

Tissue specificityi

Expressed in the developing CNS, including a specific expression in vestibular structures throughout inner ear development.3 Publications

Developmental stagei

Begins at embryonic day 10.5 in the developing ear, hypothalamus, the neural tube and dorsal root ganglia. It continues to be active throughout prenatal life in discrete regions of the brain with an anterior border in the ventral diencephalon at the optic chiasma and expression domains in mesencephalon, metencephalon, and myelencephalon. At midgestation, it is also expressed in mesenchyme of the head and branchial arches, and in some cranial ganglia, as well as in derivatives of neural crest, such as the truncus sympathicus and myenteric ganglia. In inner ear, it is expressed between E13.5 and birth in non-sensory epithelium of the semicircular canals, utricle and saccule. Also expressed in the cochlea, where the expression is restricted to the stria vascularis.4 Publications

Inductioni

Regulated by Six1 and FGFs in inner ear.3 Publications

Gene expression databases

BgeeiENSMUSG00000040148.
CleanExiMM_HMX3.
GenevisibleiP42581. MM.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000039018.

Structurei

3D structure databases

ProteinModelPortaliP42581.
SMRiP42581. Positions 237-290.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2 – 5251Pro-richAdd
BLAST
Compositional biasi57 – 8428Ala-richAdd
BLAST
Compositional biasi319 – 3257Poly-Ala

Sequence similaritiesi

Belongs to the HMX homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0485. Eukaryota.
ENOG4111R8D. LUCA.
GeneTreeiENSGT00840000129671.
HOGENOMiHOG000231923.
HOVERGENiHBG098273.
InParanoidiP42581.
KOiK09349.
OMAiHPIVTSV.
OrthoDBiEOG091G0RNV.
TreeFamiTF320562.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P42581-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPEPGPDASG TASAPPPQPP PQPPAPKESP FSIRNLLNGD HHRPPPKPQP
60 70 80 90 100
PPRTLFAPAS AAAAAAAAAA AAAKGALEGA AGFALSQVGD LAFPRFEIPA
110 120 130 140 150
QRFALPAHYL ERSPAWWYPY TLTPAGGHLP RPEASEKALL RDSSPASGTD
160 170 180 190 200
RDSPEPLLKA DPDHKELDSK SPDEIILEES DSEEGKKEGE AVPGAAGTTV
210 220 230 240 250
GATTATPGSE DWKAGAESPE KKPACRKKKT RTVFSRSQVF QLESTFDMKR
260 270 280 290 300
YLSSSERAGL AASLHLTETQ VKIWFQNRRN KWKRQLAAEL EAANLSHAAA
310 320 330 340 350
QRIVRVPILY HENSAAEGAA AAAGAPVPVS QPLLTFPHPV YYSHPVVSSV

PLLRPV
Length:356
Mass (Da):37,859
Last modified:July 27, 2011 - v3
Checksum:i5AB4E8D8FCCE296A
GO

Sequence cautioni

The sequence CAA53079 differs from that shown.Chimeric cDNA.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti68 – 681A → V in CAA08911 (PubMed:10543441).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X75330 mRNA. Translation: CAA53079.1. Sequence problems.
AJ009935 Genomic DNA. Translation: CAA08911.1.
CH466531 Genomic DNA. Translation: EDL17717.1.
BC139482 mRNA. Translation: AAI39483.1.
BC139483 mRNA. Translation: AAI39484.1.
CCDSiCCDS21917.1.
PIRiI48690.
RefSeqiNP_032283.3. NM_008257.3.
XP_006507441.1. XM_006507378.2.
XP_006507442.1. XM_006507379.2.
XP_011239981.1. XM_011241679.1.
UniGeneiMm.323562.

Genome annotation databases

EnsembliENSMUST00000046093; ENSMUSP00000039018; ENSMUSG00000040148.
GeneIDi15373.
KEGGimmu:15373.
UCSCiuc009kbo.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X75330 mRNA. Translation: CAA53079.1. Sequence problems.
AJ009935 Genomic DNA. Translation: CAA08911.1.
CH466531 Genomic DNA. Translation: EDL17717.1.
BC139482 mRNA. Translation: AAI39483.1.
BC139483 mRNA. Translation: AAI39484.1.
CCDSiCCDS21917.1.
PIRiI48690.
RefSeqiNP_032283.3. NM_008257.3.
XP_006507441.1. XM_006507378.2.
XP_006507442.1. XM_006507379.2.
XP_011239981.1. XM_011241679.1.
UniGeneiMm.323562.

3D structure databases

ProteinModelPortaliP42581.
SMRiP42581. Positions 237-290.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000039018.

PTM databases

PhosphoSiteiP42581.

Proteomic databases

MaxQBiP42581.
PaxDbiP42581.
PRIDEiP42581.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000046093; ENSMUSP00000039018; ENSMUSG00000040148.
GeneIDi15373.
KEGGimmu:15373.
UCSCiuc009kbo.2. mouse.

Organism-specific databases

CTDi340784.
MGIiMGI:107160. Hmx3.

Phylogenomic databases

eggNOGiKOG0485. Eukaryota.
ENOG4111R8D. LUCA.
GeneTreeiENSGT00840000129671.
HOGENOMiHOG000231923.
HOVERGENiHBG098273.
InParanoidiP42581.
KOiK09349.
OMAiHPIVTSV.
OrthoDBiEOG091G0RNV.
TreeFamiTF320562.

Miscellaneous databases

ChiTaRSiHmx3. mouse.
PROiP42581.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000040148.
CleanExiMM_HMX3.
GenevisibleiP42581. MM.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHMX3_MOUSE
AccessioniPrimary (citable) accession number: P42581
Secondary accession number(s): B9EIJ0, O88699
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: July 27, 2011
Last modified: September 7, 2016
This is version 125 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.