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Aliases for HMBOX1 Gene

Aliases for HMBOX1 Gene

  • Homeobox Containing 1 2 3 5
  • Homeobox Telomere-Binding Protein 1 2 3
  • Homeobox-Containing Protein PBHNF 3
  • HNF1LA 3
  • PBHNF 3
  • HOT1 3

External Ids for HMBOX1 Gene

Previous GeneCards Identifiers for HMBOX1 Gene

  • GC08P028805
  • GC08P027293

Summaries for HMBOX1 Gene

GeneCards Summary for HMBOX1 Gene

HMBOX1 (Homeobox Containing 1) is a Protein Coding gene.

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

Regulatory Elements for HMBOX1 Gene

Enhancers for HMBOX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HMBOX1 on UCSC Golden Path with GeneCards custom track

Promoters for HMBOX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HMBOX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HMBOX1 Gene

Chromosome:
8
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

Genes around HMBOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMBOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMBOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for HMBOX1 Gene

Gene Families for HMBOX1 Gene

Protein Domains for HMBOX1 Gene

Suggested Antigen Peptide Sequences for HMBOX1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6NT76

UniProtKB/Swiss-Prot:

HMBX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
Domain:
  • Contains 1 homeobox DNA-binding domain.
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:0003691 double-stranded telomeric DNA binding IDA 23685356
GO:0003720 contributes_to telomerase activity IDA 23685356
GO:0032403 protein complex binding IPI 23685356
genes like me logo Genes that share ontologies with HMBOX1: view
genes like me logo Genes that share phenotypes with HMBOX1: view

Animal Model Products

miRNA for HMBOX1 Gene

miRTarBase miRNAs that target HMBOX1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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. {ECO:0000269 PubMed:16825764}.
Isoform 5: Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMBOX1 Gene COMPARTMENTS Subcellular localization image for HMBOX1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for HMBOX1 Gene

Pathways & Interactions 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:0032212 positive regulation of telomere maintenance via telomerase IMP 23685356
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 and SIGNOR curated interactions for HMBOX1 Gene

Drugs & Compounds for HMBOX1 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for HMBOX1 Gene

This gene is overexpressed in Urine (62.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with HMBOX1: view

Protein tissue co-expression partners for HMBOX1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HMBOX1 Gene

Orthologs for HMBOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HMBOX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HMBOX1 35
  • 94.44 (n)
  • 100 (a)
HMBOX1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMBOX1 35
  • 96.03 (n)
  • 99.76 (a)
HMBOX1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmbox1 35
  • 92.04 (n)
  • 99.05 (a)
Hmbox1 16
Hmbox1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HMBOX1 35
  • 100 (n)
  • 100 (a)
HMBOX1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmbox1 35
  • 91.71 (n)
  • 98.56 (a)
oppossum
(Monodelphis domestica)
Mammalia HMBOX1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMBOX1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMBOX1 35
  • 86.4 (n)
  • 96.66 (a)
HMBOX1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMBOX1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmbox1 35
  • 74.2 (n)
  • 87.33 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21282 35
zebrafish
(Danio rerio)
Actinopterygii hmbox1b 35
  • 70.45 (n)
  • 79.75 (a)
HMBOX1 (3 of 3) 36
  • 48 (a)
OneToMany
hmbox1a 36
  • 71 (a)
OneToMany
hmbox1b 36
  • 73 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5873 35
worm
(Caenorhabditis elegans)
Secernentea hmbx-1 35
  • 41.38 (n)
  • 31.58 (a)
hmbx-1 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(1) 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
rs2035644 -- 29,042,180(-) TCTTA(C/G)TTCAC intron-variant
rs2087233 -- 29,055,498(-) AAAAG(A/C)CAAAA utr-variant-3-prime
rs2129784 -- 29,042,480(-) CTTTA(C/T)ACTCT intron-variant
rs2137471 -- 28,948,132(-) TCTTA(C/T)TGAGA intron-variant
rs2137472 -- 28,989,133(-) cacca(C/T)gcccg 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

Variation tolerance for HMBOX1 Gene

Residual Variation Intolerance Score: 14.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.88% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for HMBOX1 Gene

Disorders for HMBOX1 Gene

Relevant External Links for HMBOX1

Genetic Association Database (GAD)
HMBOX1
Human Genome Epidemiology (HuGE) Navigator
HMBOX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HMBOX1

No disorders were found for HMBOX1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for HMBOX1 Gene

Sources for HMBOX1 Gene

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