SMC1B Gene Summary [Human]
SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | SMC1B |
| Official Name | structural maintenance of chromosomes 1B [Source:HGNC Symbol;Acc:HGNC:11112] |
| Ensembl ID | ENSG00000077935 |
| Bio databases IDs | |
| Aliases | structural maintenance of chromosomes 1B |
| Synonyms | SMC1BETA, SMC1L2, Smc1 β, structural maintenance of chromosomes 1B |
| 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 SMC1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMC proteins Flexible Hinge Domain
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- Synaptonemal complex protein 1 (SCP-1)
- rad50
- enzyme
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- DNA binding
- AAA domain
- chromosome segregation protein SMC, common bacterial type
- RecF/RecN/SMC N terminal domain
- Myosin-like coiled-coil protein
Pathways
Biological processes and signaling networks where the SMC1B 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
- rheumatoid arthritis
- familial premature ovarian failure
- azoospermia
- colorectal cancer
- infertility condition
role in cell
- expression in
- quantity
- mitosis
- meiosis
- synapsis
- shortening
- cohesion
- stability
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
- nuclear fraction
- cytosol
- centromeric region
- chromosome
- nucleoplasm
- centromeres
- synaptonemal complexes
- telomeres
- chromosomal arms
- chromatin
- chromosomal axial elements
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMC1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sister chromatid cohesion
- meiotic cell cycle
Cellular Component
Where in the cell the gene product is active
- nucleus
- lateral element
- cytosol
- meiotic cohesin complex
- chromosome, centromeric region
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- DNA binding
- ATP binding