HMBOX1 Gene Summary [Human]

Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II; positive regulation of telomerase activity; and positive regulation of telomere maintenance via telomerase. Located in several cellular components, including centrosome; chromosome, telomeric region; and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
HMBOX1
Official Name
homeobox containing 1 [Source:HGNC Symbol;Acc:HGNC:26137]
Ensembl ID
ENSG00000147421
Bio databases IDs NCBI: 79618 Ensembl: ENSG00000147421
Aliases homeobox containing 1, homeobox telomere-binding protein 1
Synonyms AI451877, AI604847, F830020C16Rik, FLJ21616, HNF1LA, homeobox containing 1, HOT1, LOC100912983, PBHNF, RGD1306787, TAH1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HMBOX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • double-stranded telomeric DNA binding
  • binding protein
  • Hepatocyte nuclear factor 1 (HNF-1), N terminus
  • double-stranded DNA binding
  • protein binding
  • sequence-specific DNA binding
  • homeodomain
  • identical protein binding
  • telomeric DNA binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • non-insulin-dependent diabetes mellitus
  • Rett syndrome
regulated by
regulates
  • DNA endogenous promoter
  • DNA promoter
  • RNA polymerase II
role in cell
  • length
  • telomere-length maintenance

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • Cytoplasm
  • centrosome
  • cytosol
  • nucleoplasm
  • nuclear bodies
  • telomeres
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HMBOX1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of transcription from RNA polymerase II promoter
  • regulation of telomerase activity
  • positive regulation of telomerase activity
  • positive regulation of chromatin binding
  • negative regulation of transcription, DNA-dependent
  • positive regulation of transcription, DNA-dependent
  • positive regulation of telomere maintenance via telomerase

Cellular Component

Where in the cell the gene product is active
  • chromosome, telomeric region
  • nucleus
  • centrosome
  • nuclear body
  • PML body
  • cytoplasm
  • Cajal body
  • cytosol
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding
  • telomeric DNA binding
  • double-stranded telomeric DNA binding
  • sequence-specific DNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.