FHL1 Gene Summary [Human]
This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | FHL1 |
| Official Name | four and a half LIM domains 1 [Source:HGNC Symbol;Acc:HGNC:3702] |
| Ensembl ID | ENSG00000022267 |
| Bio databases IDs | |
| Aliases | four and a half LIM domains 1, Four-and-a-half LIM domains 1, LIM protein SLIMMER |
| Synonyms | FCMSU, FHL, FLH1A, four and a half LIM domains 1, KYOT, LHL FOUR and A half LIM DOMAINS 1, RAM14-1, RBMX1A, RBMX1B, SLIM, SLIM-1, XMPMA |
| 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 FHL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- channel regulator
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- half LIM domain
- potassium channel regulator
- ion channel binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- X-linked myopathy with postural muscle atrophy
- neoplasia
- lung adenocarcinoma
- lung adenocarcinoma formation
- X-linked Emery-Dreifuss muscular dystrophy type 6
- glycogen storage disease type II
- Emery-Dreifuss muscular dystrophy
- X-linked reducing body myopathy type 1B with late childhood onset
- X-linked dominant scapuloperoneal myopathy
- non-small cell lung carcinoma
role in cell
- expression in
- migration
- growth
- proliferation
- apoptosis
- assembly
- formation
- binding in
- depolarization
- tyrosine phosphorylation 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
- Plasma Membrane
- Endoplasmic Reticulum
- costameres
- cytosol
- I band
- m-bands
- sarcolemma
- Z line
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FHL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- negative regulation of cell growth
- cell differentiation
- negative regulation of G1/S transition of mitotic cell cycle
- positive regulation of potassium ion transport
- regulation of membrane depolarization
- negative regulation of G2/M transition of mitotic cell cycle
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- focal adhesion
- cytoplasm
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- ion channel binding