RBCK1 Gene Summary [Human]
Enables several functions, including identical protein binding activity; protein sequestering activity; and ubiquitin binding activity. Involved in several processes, including T cell receptor signaling pathway; cellular protein metabolic process; and regulation of DNA-binding transcription factor activity. Part of LUBAC complex. Implicated in glycogen storage disease. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | RBCK1 |
| Official Name | RANBP2-type and C3HC4-type zinc finger containing 1 [Source:HGNC Symbol;Acc:HGNC:15864] |
| Ensembl ID | ENSG00000125826 |
| Bio databases IDs | |
| Aliases | RANBP2-type and C3HC4-type zinc finger containing 1, heme-oxidized IRP2 ubiquitin ligase 1 |
| Synonyms | C20orf18, HOIL-1, HOIL-1L, PBMEI, PGBM1, Pkcbpb15, RANBP2-type and C3HC4-type zinc finger containing 1, RanBP-type and C3HC4-type zinc finger containing 1, RBCK2, RNF54, UBCE7IP3, UIP28, XAP3, XAP4, ZRANB4 |
| 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 RBCK1 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
- transcription co-activator
- BRcat_Rcat_RBR
- coiled-coil domain
- ubiquitin-like domain
- enzyme activator activity
- identical protein binding
- Ubiquitin family
- Ring finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ubiquitin homologues
- zinc-RING finger domain
- NZF domain
- IBR domain, a half RING-finger domain
- protein kinase C binding
- ubiquitin binding
- enzyme regulator activity
- Ring finger domain
- protein binding
- Zn-finger in Ran binding protein and others
- RING-type zinc-finger
- double-stranded DNA binding
- Ubl1_cv_Nsp3_N-like
- ubiquitin-protein transferase activity
- nuclear protein localization 4 zinc finger domain
- zinc finger domain
- Zinc finger, C3HC4 type (RING finger)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pancreatic cancer
- epithelial cancer
- neoplasia
- prostate cancer
- colorectal cancer
- non-small cell lung cancer
- Alzheimer disease
- liver cancer
- digestive system cancer
- abdominal cancer
role in cell
- expression in
- transcription in
- degradation in
- apoptosis
- proliferation
- activation in
- phosphorylation in
- migration
- invasion by
- downregulation 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
- Nucleus
- cytosol
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RBCK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- proteasomal ubiquitin-dependent protein catabolic process
- positive regulation of metabolic process
- negative regulation of NF-kappaB transcription factor activity
- protein polyubiquitination
- protein linear polyubiquitination
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- positive regulation of extrinsic apoptotic signaling pathway
- positive regulation of NF-kappaB transcription factor activity
- defense response to bacterium
- T cell receptor signaling pathway
- negative regulation of necroptosis
Cellular Component
Where in the cell the gene product is active
- cytosol
- LUBAC complex
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- identical protein binding
- protein binding
- ubiquitin binding
- metal ion binding