SMARCA5 Gene Summary [Human]

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
SMARCA5
Official Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 [Source:HGNC Symbol;Acc:HGNC:11101]
Ensembl ID
ENSG00000153147
Bio databases IDs NCBI: 8467 Ensembl: ENSG00000153147
Aliases SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
Synonyms 4933427E24Rik, D030040M08RIK, D330027N15Rik, hISWI, hSNF2H, ISWI, MommeD4, SNF2H, SNF2 related chromatin remodeling ATPase 5, SNFA5, WCRF135
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 SMARCA5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • SANT
  • histone binding
  • transcription regulator
  • SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
  • HAND
  • helicase
  • DEAD/DEAH box helicase
  • SNF2-related domain
  • helicase superfamily c-terminal domain
  • SLIDE
  • ATP binding
  • protein binding
  • DNA dependent ATPase
  • ATPase
  • Helicase conserved C-terminal domain
  • DNA binding
  • Type III restriction enzyme, res subunit
  • N-terminal helicase domain of the DEAD-box helicase superfamily
  • DEAD-like helicases superfamily
  • P-loop containing Nucleoside Triphosphate Hydrolases

Pathways

Biological processes and signaling networks where the SMARCA5 gene in human plays a role, providing insight into its function and relevance in health or disease.

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
  • liver cancer
  • epithelial cancer
  • schizophrenia
  • postmenopausal osteoporosis
  • hepatocellular carcinoma
  • mental retardation
  • localization-related epilepsy
  • neurodevelopmental disorder
regulated by
regulates
role in cell
  • expression in
  • activation in
  • growth
  • apoptosis
  • cell death
  • assembly
  • formation
  • development
  • remodeling
  • frequency

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
  • interchromatin granule cluster fractions
  • nuclear fraction
  • fibrillar center
  • nuclear foci
  • chromosome
  • nucleoplasm
  • DNA replication foci
  • centromeres
  • replication fork
  • paraspeckle-like structures

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SMARCA5 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • DNA repair
  • regulation of transcription, DNA-dependent
  • positive regulation of DNA replication
  • transcription initiation, DNA-dependent
  • regulation of DNA replication
  • positive regulation of transcription from RNA polymerase II promoter
  • chromatin organization
  • response to DNA damage stimulus
  • positive regulation of transcription from RNA polymerase III promoter
  • nucleosome assembly
  • regulation of transcription from RNA polymerase II promoter
  • methylation-dependent chromatin silencing
  • positive regulation of transcription from RNA polymerase I promoter
  • chromatin remodeling
  • chromatin silencing at rDNA
  • heterochromatin assembly
  • negative regulation of transcription from RNA polymerase I promoter

Cellular Component

Where in the cell the gene product is active
  • site of double-strand break
  • nuclear replication fork
  • nucleolus
  • chromatin silencing complex
  • centromeric heterochromatin
  • fibrillar center
  • chromatin accessibility complex
  • nucleoplasm
  • condensed chromosome
  • nucleus
  • ACF complex
  • RSF complex
  • NURF complex

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • ATP binding
  • DNA binding
  • DNA-dependent ATPase activity
  • protein binding
  • histone binding
  • nucleosome binding
  • helicase activity

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.