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Aliases for HMX1 Gene

Aliases for HMX1 Gene

  • H6 Family Homeobox 1 2 3
  • H6 3 4 6
  • Homeobox Protein H6 3 4
  • Homeo Box (H6 Family) 1 2
  • H6 Homeodomain Protein 3
  • Homeobox Protein HMX1 3
  • NKX5-3 3

External Ids for HMX1 Gene

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 transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NKX2-5.

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    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

No Post-translational modifications

Other Protein References for HMX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HMX1 Gene

Domains for HMX1 Gene

Gene Families for HMX1 Gene

HGNC:
  • NKL :Homeoboxes / ANTP class : NKL subclass

UniProtKB/Swiss-Prot:

HMX1_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • Q9NP08
Family:
  • Belongs to the HMX homeobox family.:
    • Q9NP08
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:0003677 DNA binding IMP 10206974
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HMX1: view
genes like me logo Genes that share phenotypes with HMX1: view

Animal Models for HMX1 Gene

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

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 4
cytosol 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HMX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC 10206974
genes like me logo Genes that share ontologies with HMX1: view

Pathways 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:0006351 transcription, DNA-templated IEA --
GO:0007275 multicellular organismal development IEA --
GO:0045892 negative regulation of transcription, DNA-templated IMP 10206974
genes like me logo Genes that share ontologies with HMX1: view

No data available for Pathways by source for HMX1 Gene

Transcripts for HMX1 Gene

mRNA/cDNA for HMX1 Gene

(2) 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 (5.6), Brain - Putamen (basal ganglia) (5.5), Brain - Substantia nigra (5.1), Brain - Hypothalamus (4.6), Brain - Amygdala (4.3), and Brain - Hippocampus (4.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for HMX1 Gene

SOURCE GeneReport for Unigene cluster for HMX1 Gene Hs.104134

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

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 36
  • 88.76 (n)
  • 87.32 (a)
HMX1 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMX1 36
  • 91.88 (n)
  • 93.31 (a)
HMX1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmx1 36
  • 82.53 (n)
  • 84.34 (a)
Hmx1 16
Hmx1 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMX1 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmx1 36
  • 83.5 (n)
  • 86.22 (a)
chicken
(Gallus gallus)
Aves HMX1 37
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 79 (a)
OneToMany
-- 37
  • 45 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii hmx1 37
  • 41 (a)
OneToOne
LOC100333298 36
  • 69.42 (n)
  • 69.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Hmx 37
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-27 37
  • 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

Selected 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 MAF
rs1132456 -- 8,867,122(+) GCTGC(A/G)ACGTC utr-variant-3-prime, intron-variant
rs3924420 -- 8,850,979(+) GGGAG(C/T)CTGGA intron-variant
rs4074894 -- 8,871,744(-) TGCCC(G/T)GCGGG utr-variant-5-prime, upstream-variant-2KB
rs4074895 -- 8,871,724(-) CAGCG(C/G)TCCGG utr-variant-5-prime, upstream-variant-2KB
rs4245952 -- 8,854,686(+) atatg(C/T)gctcc intron-variant

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

Relevant External Links for HMX1 Gene

HapMap Linkage Disequilibrium report
HMX1
Human Gene Mutation Database (HGMD)
HMX1

Disorders for HMX1 Gene

(1) OMIM Diseases for HMX1 Gene (142992)

UniProtKB/Swiss-Prot

HMX1_HUMAN
  • Oculoauricular syndrome (OCLAUS) [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.

(3) University of Copenhagen DISEASES for HMX1 Gene

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

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
  2. 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 4
  3. Transcriptional antagonism between Hmx1 and Nkx2.5 for a shared DNA- binding site. (PMID: 10206974) Amendt B.A. … Russo A.F. (J. Biol. Chem. 1999) 3 4
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Genome-scale RNAi screen for host factors required for HIV replication. (PMID: 18976975) Zhou H. … Espeseth A.S. (Cell Host Microbe 2008) 3

Products for HMX1 Gene

Sources for HMX1 Gene

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