Aliases for HMBOX1 Gene

Aliases for HMBOX1 Gene

  • Homeobox Containing 1 2 3 5
  • Homeobox Telomere-Binding Protein 1 2 3 4
  • Telomere-Associated Homeobox-Containing Protein 1 3 4
  • Homeobox-Containing Protein 1 3 4
  • HOT1 3 4
  • TAH1 3 4
  • Homeobox-Containing Protein PBHNF 3
  • HNF1LA 3
  • PBHNF 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. Diseases associated with HMBOX1 include Hyperinsulinemic Hypoglycemia, Familial, 4.

UniProtKB/Swiss-Prot Summary for HMBOX1 Gene

  • Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA (PubMed:23813958, PubMed:23685356). Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation (PubMed:23685356). Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (By similarity). Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs) (PubMed:23813958). Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination (PubMed:23813958). Might also be involved in the DNA damage response at telomeres (PubMed:23813958).

Additional gene information for HMBOX1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HMBOX1 Gene

Genomics for HMBOX1 Gene

GeneHancer (GH) Regulatory Elements for HMBOX1 Gene

Promoters and enhancers for HMBOX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HMBOX1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HMBOX1

Top Transcription factor binding sites by QIAGEN in the HMBOX1 gene promoter:
  • AREB6
  • FOXF2
  • FOXJ2
  • FOXJ2 (long isoform)
  • HNF-3beta

Genomic Locations for HMBOX1 Gene

Genomic Locations for HMBOX1 Gene
chr8:28,890,394-29,064,939
(GRCh38/hg38)
Size:
174,546 bases
Orientation:
Plus strand
chr8:28,747,911-28,922,281
(GRCh37/hg19)
Size:
174,371 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:
    • Associates with the telomerase holoenzyme complex. Interacts with DKC1, XRCC6 and COIL.
    SequenceCaution:
    • Sequence=BAB15099.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HMBOX1 Gene

Suggested Antigen Peptide Sequences for HMBOX1 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox containing 1, isoform CRA_c (D3DSU2_HUMAN)
  • Homeobox-containing protein 1 (HMBX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NT76

UniProtKB/Swiss-Prot:

HMBX1_HUMAN :
  • The homeobox domain is required for binding to 5'-TTAGGG-3' repeats in telomeres, and for telomere localization.
Domain:
  • The homeobox domain is required for binding to 5'-TTAGGG-3' repeats in telomeres, and for telomere localization.
genes like me logo Genes that share domains with HMBOX1: view

Function for HMBOX1 Gene

Molecular function for HMBOX1 Gene

UniProtKB/Swiss-Prot Function:
Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA (PubMed:23813958, PubMed:23685356). Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation (PubMed:23685356). Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (By similarity). Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs) (PubMed:23813958). Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination (PubMed:23813958). Might also be involved in the DNA damage response at telomeres (PubMed:23813958).

Phenotypes From GWAS Catalog for HMBOX1 Gene

Gene Ontology (GO) - Molecular Function for HMBOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IC --
GO:0003677 DNA binding IEA --
GO:0003691 double-stranded telomeric DNA binding IDA 23685356
GO:0005515 protein 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

CRISPR Products

miRNA for HMBOX1 Gene

miRTarBase miRNAs that target HMBOX1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMBOX1

Clone Products

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. Chromosome, telomere. Nucleus, Cajal body. Nucleus, PML body. Note=Predominantly detected in cytoplasm (PubMed:16825764, PubMed:19728927). Localizes in a dynamic manner to actively processed telomeres (PubMed:23685356). Localizes to the periphery of Cajal bodies (PubMed:23685356). Associates with PML nuclear bodies in telomerase-negative cells (PubMed:23813958). {ECO:0000269 PubMed:16825764, ECO:0000269 PubMed:19728927, ECO:0000269 PubMed:23685356, ECO:0000269 PubMed:23813958}.
[Isoform 5]: Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HMBOX1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HMBOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0000784 nuclear chromosome, telomeric region IDA,IBA 23685356
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA 19757162
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with HMBOX1: view

Pathways & Interactions for HMBOX1 Gene

PathCards logo

SuperPathways for HMBOX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HMBOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 21839858
GO:0032212 positive regulation of telomere maintenance via telomerase IBA,IMP 23685356
GO:0035563 positive regulation of chromatin binding ISS --
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

mRNA/cDNA for HMBOX1 Gene

17 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMBOX1

Clone Products

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

Expression for HMBOX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for HMBOX1 Gene



Protein tissue co-expression partners for HMBOX1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HMBOX1

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, colon, lung, cardiac muscle and thyroid gland.

Evidence on tissue expression from TISSUES for HMBOX1 Gene

  • Nervous system(4.3)
  • Intestine(4.2)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with HMBOX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia HMBOX1 31 30
  • 100 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMBOX1 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMBOX1 31 30
  • 96.03 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HMBOX1 31 30
  • 94.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hmbox1 17 31 30
  • 92.04 (n)
rat
(Rattus norvegicus)
Mammalia Hmbox1 30
  • 91.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HMBOX1 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMBOX1 31 30
  • 86.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMBOX1 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmbox1 30
  • 74.2 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21282 30
zebrafish
(Danio rerio)
Actinopterygii hmbox1a 31
  • 71 (a)
OneToMany
hmbox1b 31 30
  • 70.45 (n)
OneToMany
HMBOX1 (3 of 3) 31
  • 48 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5873 30
worm
(Caenorhabditis elegans)
Secernentea hmbx-1 31 30
  • 41.38 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToOne
Species where no ortholog for HMBOX1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HMBOX1: view image

Paralogs for HMBOX1 Gene

(1) SIMAP similar genes for HMBOX1 Gene using alignment to 8 proteins:

  • HMBX1_HUMAN
  • D3DSU2_HUMAN
  • E5RGZ2_HUMAN
  • E5RHH9_HUMAN
  • H0YBM8_HUMAN
  • H0YBS8_HUMAN
  • H0YKJ1_HUMAN
  • H0YLF2_HUMAN
genes like me logo Genes that share paralogs with HMBOX1: view

No data available for Paralogs for HMBOX1 Gene

Variants for HMBOX1 Gene

Additional dbSNP identifiers (rs#s) for HMBOX1 Gene

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

Variant ID Type Subtype PubMed ID
esv2661011 CNV deletion 23128226
esv2666663 CNV deletion 23128226
esv2675311 CNV deletion 23128226
esv2676816 CNV deletion 23128226
esv2736811 CNV deletion 23290073
esv2736812 CNV deletion 23290073
esv2736813 CNV deletion 23290073
esv2736814 CNV deletion 23290073
esv2736815 CNV deletion 23290073
esv3543281 CNV deletion 23714750
esv3543283 CNV deletion 23714750
esv3616751 CNV loss 21293372
esv3616752 CNV loss 21293372
esv3616753 CNV loss 21293372
esv3616754 CNV loss 21293372
esv3891379 CNV gain 25118596
nsv1030463 CNV loss 25217958
nsv1109964 CNV deletion 24896259
nsv1109965 CNV deletion 24896259
nsv1115081 CNV deletion 24896259
nsv398424 CNV insertion 16902084
nsv526818 CNV loss 19592680
nsv6136 CNV insertion 18451855
nsv820071 CNV gain 19587683

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)

Additional Variant Information for HMBOX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMBOX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HMBOX1 Gene

Disorders for HMBOX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HMBOX1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hyperinsulinemic hypoglycemia, familial, 4
  • persistent hyperinsulinemic hypoglycemia of infancy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HMBOX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HMBOX1: view

No data available for 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 (Cytogenetic and genome research 2006) 2 3 4 54
  2. HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment. (PMID: 23685356) Kappei D … Buchholz F (The EMBO journal 2013) 3 4 54
  3. The telomere-associated homeobox-containing protein TAH1/HMBOX1 participates in telomere maintenance in ALT cells. (PMID: 23813958) Feng X … Songyang Z (Journal of cell science 2013) 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Characterization of a novel human HMBOX1 splicing variant lacking the homeodomain and with attenuated transcription repressor activity. (PMID: 19757162) Zhang M … Yu L (Molecular biology reports 2010) 3 4 54

Products for HMBOX1 Gene

Sources for HMBOX1 Gene