SRCAP Gene Summary [Human]
This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | SRCAP |
| Official Name | Snf2 related CREBBP activator protein [Source:HGNC Symbol;Acc:HGNC:16974] |
| Ensembl ID | ENSG00000080603 |
| Bio databases IDs | |
| Aliases | Snf2 related CREBBP activator protein, Swi2/Snf2-related ATPase homolog (S. cerevisiae), domino homolog 1 (Drosophila) |
| Synonyms | 1700008J07Rik, B930091H02Rik, D030022P06RIK, DEHMBA, DOMO1, EAF1, F630004O05Rik, FLHS, LOC100911588, LOC691904, RGD1565642, Snf2-related CREBBP activator protein, Swi/snf related cbp activator, SWR1 |
| Species | Human, Homo sapiens |
| Orthologies |
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 SRCAP 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
- histone acetyltransferase
- transcription co-activator
- domain in helicases and associated with SANT domains
- SNF2-related domain
- helicase superfamily c-terminal domain
- protein binding
- HSA domain
- Helicase conserved C-terminal domain
- Mediator complex subunit 25 synapsin 1
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- CBP binding domain
- P-loop containing Nucleoside Triphosphate Hydrolases
- POU domain, class 2, transcription factor 1 C-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
- neurodevelopmental disorder
- plasma cell myeloma
- Floating-Harbor syndrome
- hereditary disorder
- systemic lupus erythematosus
- developmental delay
- bipolar disorder
- focal cortical dysplasia of Taylor
role in cell
- cell death
- accumulation in
- activation in
- apoptosis
- necroptosis
- homologous recombination in
- initial DNA end resection 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.
- Cytoplasm
- perinuclear region
- Nucleus
- Golgi Apparatus
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SRCAP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- positive regulation of transcription, DNA-dependent
- regulation of transcription, DNA-dependent
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- perinuclear region of cytoplasm
- nuclear body
- Swr1 complex
- Golgi apparatus
- macromolecular complex
- nucleosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- DNA binding
- ATP binding
- histone acetyltransferase activity
- protein binding
- transcription coactivator activity
- histone binding
- helicase activity