HEATR1 Gene Summary [Human]

Enables RNA binding activity. Involved in positive regulation of rRNA processing and positive regulation of transcription by RNA polymerase I. Located in fibrillar center and mitochondrion. Implicated in pancreatic ductal carcinoma. Biomarker of glioblastoma. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
HEATR1
Official Name
HEAT repeat containing 1 [Source:HGNC Symbol;Acc:HGNC:25517]
Ensembl ID
ENSG00000119285
Bio databases IDs NCBI: 55127 Ensembl: ENSG00000119285
Aliases HEAT repeat containing 1, UTP10, small subunit (SSU) processome component, homolog (yeast)
Synonyms AA517551, B130016L12RIK, BAP28, Heatr1l1, HEAT repeat containing 1, LOC100910568, LOC108348069, LOC284709, RGD1564769, UTP10
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 HEATR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • U3 small nucleolar RNA-associated protein 10
  • protein binding
  • BP28CT (NUC211) domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Hutchinson-Gilford progeria syndrome
  • infection by HIV-1
regulated by
  • OVALBUMIN
  • IgE
regulates
role in cell
  • proliferation
  • survival
  • processing in
  • transcription in

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
  • pseudo nucleolar organizer
  • fibrillar center
  • pre-ribosome
  • Mitochondria
  • nuclear foci
  • nucleoplasm
  • nucleoli
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HEATR1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
  • ribosomal small subunit biogenesis
  • positive regulation of rRNA processing
  • positive regulation of transcription from RNA polymerase I promoter

Cellular Component

Where in the cell the gene product is active
  • small-subunit processome
  • mitochondrion
  • membrane
  • t-UTP complex
  • nucleolus
  • 90S preribosome
  • fibrillar center
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • snoRNA binding
  • RNA binding
  • protein 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.