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Aliases for HMX1 Gene

Aliases for HMX1 Gene

  • H6 Family Homeobox 1 2 3 5
  • Homeobox Protein H6 3 4
  • H6 3 4
  • Homeo Box (H6 Family) 1 2
  • H6 Homeodomain Protein 3
  • NKX5-3 3

External Ids for HMX1 Gene

Previous GeneCards Identifiers for HMX1 Gene

  • GC04M021233
  • GC04M9E0039
  • GC00M9M0039
  • GC00M9V0039
  • GC04M9P0039
  • GC04M9R0039
  • GC04M008869

Summaries for HMX1 Gene

Entrez Gene Summary for HMX1 Gene

  • 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]

GeneCards Summary for HMX1 Gene

HMX1 (H6 Family Homeobox 1) is a Protein Coding gene. Diseases associated with HMX1 include Oculoauricular Syndrome and Oculoauricular Syndrome, Schorderet Type. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is DLX5.

UniProtKB/Swiss-Prot for HMX1 Gene

  • DNA-binding protein that binds to the 5-CAAG-3 core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMX1 Gene

Genomics for HMX1 Gene

Genomic Location for HMX1 Gene

Chromosome:
4
Start:
8,846,076 bp from pter
End:
8,871,817 bp from pter
Size:
25,742 bases
Orientation:
Minus strand

Genomic View for HMX1 Gene

Genes around HMX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMX1 Gene

No data available for Regulatory Elements for HMX1 Gene

Proteins for HMX1 Gene

  • Protein details for HMX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP08-HMX1_HUMAN
    Recommended name:
    Homeobox protein HMX1
    Protein Accession:
    Q9NP08

    Protein attributes for HMX1 Gene

    Size:
    348 amino acids
    Molecular mass:
    36155 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF70205.1; Type=Frameshift; Positions=35, 60, 84, 89, 157, 179, 277; Evidence={ECO:0000305};

neXtProt entry for HMX1 Gene

Proteomics data for HMX1 Gene at MOPED

Post-translational modifications for HMX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HMX1 Gene

No data available for DME Specific Peptides for HMX1 Gene

Domains & Families for HMX1 Gene

Gene Families for HMX1 Gene

Suggested Antigen Peptide Sequences for HMX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NP08

UniProtKB/Swiss-Prot:

HMX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the HMX homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the HMX homeobox family.
genes like me logo Genes that share domains with HMX1: view

Function for HMX1 Gene

Molecular function for HMX1 Gene

GENATLAS Biochemistry:
Drosophila NK-3/NK-1 homolog,homeo domain encoding gene
UniProtKB/Swiss-Prot Function:
DNA-binding protein that binds to the 5-CAAG-3 core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear.

Gene Ontology (GO) - Molecular Function for HMX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
genes like me logo Genes that share ontologies with HMX1: view
genes like me logo Genes that share phenotypes with HMX1: view

Human Phenotype Ontology for HMX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HMX1 Gene

MGI Knock Outs for HMX1:
  • Hmx1 tm1(KOMP)Vlcg

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HMX1 Gene

Localization for HMX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMX1 Gene COMPARTMENTS Subcellular localization image for HMX1 gene
Compartment Confidence
nucleus 5
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for HMX1 Gene

Pathways & Interactions for HMX1 Gene

SuperPathways for HMX1 Gene

No Data Available

Interacting Proteins for HMX1 Gene

Gene Ontology (GO) - Biological Process for HMX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0045892 negative regulation of transcription, DNA-templated IEA,IMP 10206974
genes like me logo Genes that share ontologies with HMX1: view

No data available for Pathways by source and SIGNOR curated interactions for HMX1 Gene

Drugs & Compounds for HMX1 Gene

No Compound Related Data Available

Transcripts for HMX1 Gene

mRNA/cDNA for HMX1 Gene

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HMX1 Gene

H6 family homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HMX1 Gene

No ASD Table

Relevant External Links for HMX1 Gene

GeneLoc Exon Structure for
HMX1
ECgene alternative splicing isoforms for
HMX1

Expression for HMX1 Gene

mRNA expression in normal human tissues for HMX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HMX1 Gene

This gene is overexpressed in Testis (x5.6), Brain - Putamen (basal ganglia) (x5.5), Brain - Substantia nigra (x5.1), Brain - Hypothalamus (x4.6), Brain - Amygdala (x4.3), and Brain - Hippocampus (x4.1).

Protein differential expression in normal tissues from HIPED for HMX1 Gene

This gene is overexpressed in Bone marrow stromal cell (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HMX1 Gene



SOURCE GeneReport for Unigene cluster for HMX1 Gene Hs.104134

genes like me logo Genes that share expression patterns with HMX1: view

Protein tissue co-expression partners for HMX1 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for HMX1 Gene

Orthologs for HMX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HMX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HMX1 35
  • 88.76 (n)
  • 87.32 (a)
HMX1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMX1 35
  • 91.88 (n)
  • 93.31 (a)
HMX1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmx1 35
  • 82.53 (n)
  • 84.34 (a)
Hmx1 16
Hmx1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmx1 35
  • 83.5 (n)
  • 86.22 (a)
oppossum
(Monodelphis domestica)
Mammalia HMX1 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMX1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 79 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC100333298 35
  • 69.42 (n)
  • 69.42 (a)
hmx1 36
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hmx 36
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-27 36
  • 22 (a)
ManyToMany
Species with no ortholog for HMX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HMX1 Gene

ENSEMBL:
Gene Tree for HMX1 (if available)
TreeFam:
Gene Tree for HMX1 (if available)

Paralogs for HMX1 Gene

(5) SIMAP similar genes for HMX1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HMX1: view

Variants for HMX1 Gene

Sequence variations from dbSNP and Humsavar for HMX1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1132456 -- 8,867,122(+) GCTGC(A/G)ACGTC intron-variant, utr-variant-3-prime
rs4245953 -- 8,866,238(+) TCTGG(C/T)GCTAC intron-variant
rs4245954 -- 8,866,501(+) GGGAA(C/T)GAGCT intron-variant
rs4074894 -- 8,871,744(-) TGCCC(G/T)GCGGG upstream-variant-2KB, utr-variant-5-prime
rs4074895 -- 8,871,724(-) CAGCG(C/G)TCCGG utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for HMX1 Gene

Variant ID Type Subtype PubMed ID
dgv1569e1 CNV Complex 17122850
nsv428437 CNV Gain 18775914
dgv1570e1 CNV Complex 17122850

Variation tolerance for HMX1 Gene

Gene Damage Index Score: 5.75; 73.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HMX1 Gene

Human Gene Mutation Database (HGMD)
HMX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMX1 Gene

Disorders for HMX1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HMX1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
oculoauricular syndrome
  • schorderet-munier-franceschetti syndrome
oculoauricular syndrome, schorderet type
duodenal gastrinoma
  • duodenal g-cell gastrin producing tumor
pancreatic agenesis
  • partial pancreatic agenesis
- elite association - COSMIC cancer census association via MalaCards
Search HMX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HMX1_HUMAN
  • Oculoauricular syndrome (OCACS) [MIM:612109]: A syndrome characterized by microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear. {ECO:0000269 PubMed:18423520}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HMX1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HMX1
genes like me logo Genes that share disorders with HMX1: view

No data available for Genatlas for HMX1 Gene

Publications for HMX1 Gene

  1. Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4. (PMID: 1360670) Stadler H.S. … Solursh M. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3 4 67
  2. Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation. (PMID: 21417677) Vaclavik V. … Munier F.L. (Ophthalmic Genet. 2011) 3
  3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M. … Kato S. (Invest. Ophthalmol. Vis. Sci. 2011) 3
  4. Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. (PMID: 19379485) Munroe R.J. … Schimenti J.C. (BMC Dev. Biol. 2009) 23
  5. Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. (PMID: 18423520) Schorderet D.F. … Munier F.L. (Am. J. Hum. Genet. 2008) 3

Products for HMX1 Gene

Sources for HMX1 Gene

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