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Aliases for HMBOX1 Gene

Aliases for HMBOX1 Gene

  • Homeobox Containing 1 2 3
  • Homeobox Telomere-Binding Protein 1 2 3
  • Homeobox-Containing Protein PBHNF 3
  • Homeobox-Containing Protein 1 3
  • HNF1LA 3
  • PBHNF 3
  • HOT1 3

External Ids for HMBOX1 Gene

Summaries for HMBOX1 Gene

GeneCards Summary for HMBOX1 Gene

HMBOX1 (Homeobox Containing 1) is a Protein Coding gene. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding.

UniProtKB/Swiss-Prot for HMBOX1 Gene

  • Transcription factor. Isoform 1 acts as a transcriptional repressor. Isoform 4 has very low activity as a transcriptional repressor.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMBOX1 Gene

Genomics for HMBOX1 Gene

Genomic Location for HMBOX1 Gene

Start:
28,890,394 bp from pter
End:
29,064,939 bp from pter
Size:
174,546 bases
Orientation:
Plus strand

Genomic View for HMBOX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HMBOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMBOX1 Gene

Regulatory Elements for HMBOX1 Gene

Proteins for HMBOX1 Gene

  • Protein details for HMBOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NT76-HMBX1_HUMAN
    Recommended name:
    Homeobox-containing protein 1
    Protein Accession:
    Q6NT76
    Secondary Accessions:
    • A4K385
    • A8K3R8
    • B4DHY5
    • D3DSU0
    • Q3Y6P1
    • Q96GS5
    • Q9H701

    Protein attributes for HMBOX1 Gene

    Size:
    420 amino acids
    Molecular mass:
    47278 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15099.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HMBOX1 Gene

    Alternative splice isoforms for HMBOX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMBOX1 Gene

Proteomics data for HMBOX1 Gene at MOPED

Post-translational modifications for HMBOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HMBOX1 Gene

Domains for HMBOX1 Gene

Gene Families for HMBOX1 Gene

HGNC:
  • HNF :Homeoboxes / HNF class

Protein Domains for HMBOX1 Gene

UniProtKB/Swiss-Prot:

HMBX1_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • Q6NT76
genes like me logo Genes that share domains with HMBOX1: view

Function for HMBOX1 Gene

Molecular function for HMBOX1 Gene

UniProtKB/Swiss-Prot Function: Transcription factor. Isoform 1 acts as a transcriptional repressor. Isoform 4 has very low activity as a transcriptional repressor.

Gene Ontology (GO) - Molecular Function for HMBOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 23685356
genes like me logo Genes that share ontologies with HMBOX1: view

Phenotypes for HMBOX1 Gene

MGI mutant phenotypes for HMBOX1:
inferred from 1 alleles
GenomeRNAi human phenotypes for HMBOX1:
genes like me logo Genes that share phenotypes with HMBOX1: view

miRNA for HMBOX1 Gene

miRTarBase miRNAs that target HMBOX1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for HMBOX1 Gene

Localization for HMBOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMBOX1 Gene

Nucleus. Cytoplasm. Note=Predominantly detected in cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMBOX1 Gene COMPARTMENTS Subcellular localization image for HMBOX1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for HMBOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with HMBOX1: view

Pathways for HMBOX1 Gene

SuperPathways for HMBOX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HMBOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0045892 negative regulation of transcription, DNA-templated IDA 19757162
GO:0045893 positive regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with HMBOX1: view

No data available for Pathways by source for HMBOX1 Gene

Transcripts for HMBOX1 Gene

Unigene Clusters for HMBOX1 Gene

Homeobox containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HMBOX1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - - - - -
SP2:
SP3: - - - - -
SP4: - - -
SP5:
SP6: -

Relevant External Links for HMBOX1 Gene

GeneLoc Exon Structure for
HMBOX1
ECgene alternative splicing isoforms for
HMBOX1

Expression for HMBOX1 Gene

mRNA expression in normal human tissues for HMBOX1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HMBOX1 Gene

SOURCE GeneReport for Unigene cluster for HMBOX1 Gene Hs.591836

mRNA Expression by UniProt/SwissProt for HMBOX1 Gene

Q6NT76-HMBX1_HUMAN
Tissue specificity: Ubiquitous. Detected in pancreas, brain, spleen, placenta, prostate, thymus, liver, heart, bone marrow, skeletal muscle, stomach, uterus, testis, kidney, ovary, and colon.
genes like me logo Genes that share expressions with HMBOX1: view

Orthologs for HMBOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HMBOX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMBOX1 36
  • 100 (n)
  • 100 (a)
HMBOX1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HMBOX1 36
  • 94.44 (n)
  • 100 (a)
HMBOX1 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMBOX1 36
  • 96.03 (n)
  • 99.76 (a)
HMBOX1 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmbox1 36
  • 92.04 (n)
  • 99.05 (a)
Hmbox1 16
Hmbox1 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMBOX1 37
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMBOX1 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmbox1 36
  • 91.71 (n)
  • 98.56 (a)
chicken
(Gallus gallus)
Aves HMBOX1 36
  • 86.4 (n)
  • 96.66 (a)
HMBOX1 37
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMBOX1 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21282 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hmbox1 36
  • 74.2 (n)
  • 87.33 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5873 36
zebrafish
(Danio rerio)
Actinopterygii HMBOX1 (3 of 3) 37
  • 48 (a)
OneToMany
hmbox1a 37
  • 71 (a)
OneToMany
hmbox1b 36
  • 70.45 (n)
  • 79.75 (a)
hmbox1b 37
  • 73 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hmbx-1 36
  • 41.38 (n)
  • 31.58 (a)
hmbx-1 37
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 37 (a)
OneToOne
Species with no ortholog for HMBOX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for HMBOX1 Gene

ENSEMBL:
Gene Tree for HMBOX1 (if available)
TreeFam:
Gene Tree for HMBOX1 (if available)

Paralogs for HMBOX1 Gene

Selected SIMAP similar genes for HMBOX1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with HMBOX1: view

No data available for Paralogs for HMBOX1 Gene

Variants for HMBOX1 Gene

Sequence variations from dbSNP and Humsavar for HMBOX1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs9220 -- 29,064,271(+) GGCTG(C/T)AGAGC utr-variant-3-prime
rs11831 -- 29,051,248(+) TATAA(C/T)TTGCA utr-variant-3-prime, downstream-variant-500B
rs14015 -- 29,051,577(-) TGCCA(C/T)GACCT utr-variant-3-prime, downstream-variant-500B
rs14118 -- 29,051,730(-) CACAG(C/T)ACCCA utr-variant-3-prime
rs874365 -- 29,050,958(+) TGTCT(C/G)TCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HMBOX1 Gene

Variant ID Type Subtype PubMed ID
nsv820071 CNV Gain 19587683
esv2736811 CNV Deletion 23290073
esv2675311 CNV Deletion 23128226
esv2666663 CNV Deletion 23128226
esv2736812 CNV Deletion 23290073
nsv526818 CNV Loss 19592680
esv2736813 CNV Deletion 23290073
esv2661011 CNV Deletion 23128226
nsv6136 CNV Insertion 18451855
nsv398424 CNV Insertion 16902084
esv2736814 CNV Deletion 23290073
esv2676816 CNV Deletion 23128226
esv2736815 CNV Deletion 23290073

Relevant External Links for HMBOX1 Gene

HapMap Linkage Disequilibrium report
HMBOX1

Disorders for HMBOX1 Gene

Relevant External Links for HMBOX1

Genetic Association Database (GAD)
HMBOX1
Human Genome Epidemiology (HuGE) Navigator
HMBOX1
genes like me logo Genes that share disorders with HMBOX1: view

No data available for UniProtKB/Swiss-Prot for HMBOX1 Gene

Publications for HMBOX1 Gene

  1. Isolation and functional analysis of human HMBOX1, a homeobox containing protein with transcriptional repressor activity. (PMID: 16825764) Chen S. … Yu L. (Cytogenet. Genome Res. 2006) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Characterization of a novel human HMBOX1 splicing variant lacking the homeodomain and with attenuated transcription repressor activity. (PMID: 19757162) Zhang M. … Yu L. (Mol. Biol. Rep. 2010) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49

Products for HMBOX1 Gene

Sources for HMBOX1 Gene

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