LBR Gene Summary [Human]
The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LBR |
| Official Name | lamin B receptor [Source:HGNC Symbol;Acc:HGNC:6518] |
| Ensembl ID | ENSG00000143815 |
| Bio databases IDs | |
| Aliases | lamin B receptor, tudor domain containing 18 |
| Synonyms | C14SR, C1orf197, DHCR14B, ic, lamin B receptor, LMN2R, Nbp60, PHA, PHASK, TDRD18 |
| 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 LBR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- arginine serine dipeptide repeat domain
- Lamin-B receptor of TUDOR domain
- globular domain
- protein binding activity, bridging
- nuclear localization sequence
- lamin binding
- protein domain specific binding
- enzyme
- protein binding
- nuclear localization sequence binding
- delta14-sterol reductase
- DNA binding
- Isoprenylcysteine carboxyl methyltransferase (ICMT) family
- NADPH binding
- D14-sterol reductase
- chaperone binding
- Tudor domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Pelger-Huet anomaly
- Pelger-Huet anomaly with mild skeletal anomalies
- Greenberg dysplasia
- Reynolds syndrome
- Pelger-Huet anomaly due to lamin B receptor mutation
- rhizomelic skeletal dysplasia without Pelger-Huet anomaly
- Jeune syndrome
- rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
- allergic rhinitis
role in cell
- binding
- accumulation in
- binding in
- stimulation
- assembly
- proliferation
- differentiation
- development
- transcription in
- assembly 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
- fibrillar center
- Cytoplasm
- perinuclear region
- cellular membrane
- endoplasmic reticulum membrane
- nuclear pores
- inner nuclear membrane
- nucleoplasm
- nuclear envelope
- nuclear lamina
- sperm head
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LBR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cholesterol biosynthetic process
- neutrophil differentiation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nuclear envelope
- nucleus
- nuclear inner membrane
- nuclear membrane
- cytoplasm
- membrane
Molecular Function
What the gene product does at the molecular level
- DNA binding
- RNA binding
- protein binding
- chromo shadow domain binding
- NADPH binding
- lamin binding
- delta14-sterol reductase activity