MCL1 Gene Summary [Human]
This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]
Details
| Type | Processed Transcript |
| Official Symbol | MCL1 |
| Official Name | MCL1 apoptosis regulator, BCL2 family member [Source:HGNC Symbol;Acc:HGNC:6943] |
| Ensembl ID | ENSG00000143384 |
| Bio databases IDs | |
| Aliases | MCL1 apoptosis regulator, BCL2 family member |
| Synonyms | BCL2L3, EAT, Gm52627, MCL1 apoptosis regulator, BCL2 family member, mcl1/EAT, myeloid cell leukaemia sequence 1, myeloid cell leukemia sequence 1, TM |
| 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 MCL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Bcl-2_like
- protein carrier
- protein dimerization
- mitochondrial presequence
- GSK3 beta phosphorylation site
- caspase cleavage site
- protein domain specific binding
- protein binding
- phosphorylation site
- PEST domain
- BH3 binding domain
- binding protein
- Bcl-2 homology 1 domain
- Bcl-2 homology 2 domain
- Caspase 3 cleavage site
- Bcl-2 homology 3 domain
- ubiquitination site
- transmembrane domain
- loop domain
- protein heterodimerization
- transporter
Pathways
Biological processes and signaling networks where the MCL1 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
- cancer
- liver cancer
- liver cholangiocarcinoma
- colorectal cancer
- neoplasia
- squamous cell lung cancer
- non-small cell lung cancer
- Burkitt lymphoma
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
role in cell
- growth
- phosphorylation in
- expression in
- production in
- cell death
- proliferation
- apoptosis
- cell viability
- differentiation
- quantity
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
- endoplasmic reticulum fraction
- membrane fraction
- mitochondrial fraction
- intracellular space
- cellular membrane
- Nucleus
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- outer leaflet
- mitochondrial membrane
- mitochondrial outer membrane
- nucleoplasm
- mitoplasts
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MCL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein transmembrane transport
- response to cytokine stimulus
- cellular homeostasis
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- mitochondrial fusion
- DNA damage response, signal transduction resulting in induction of apoptosis
- extrinsic apoptotic signaling pathway in absence of ligand
- response to DNA damage stimulus
- negative regulation of anoikis
- negative regulation of autophagy
- negative regulation of apoptotic process
- positive regulation of apoptotic process
- release of cytochrome c from mitochondria
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- cell fate determination
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- Bcl-2 family protein complex
- membrane
- mitochondrion
- cytosol
- mitochondrial outer membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- BH domain binding
- BH3 domain binding
- channel activity
- protein binding
- protein transmembrane transporter activity
- protein heterodimerization activity