FANCM Gene Summary [Human]
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Details
| Type | Protein Coding |
| Official Symbol | FANCM |
| Official Name | FA complementation group M [Source:HGNC Symbol;Acc:HGNC:23168] |
| Ensembl ID | ENSG00000187790 |
| Bio databases IDs | |
| Aliases | FA complementation group M |
| Synonyms | AI427100, C730036B14Rik, D12Ertd364e, FAAP250, FA complementation group M, Fanconi anaemia, complementation group M, Fanconi anemia, complementation group M, KIAA1596, POF15, RGD1307897, SPGF28 |
| 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 FANCM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ERCC4 domain
- FANCM to MHF binding domain
- DEAD/DEAH box helicase
- helicase superfamily c-terminal domain
- chromatin binding
- enzyme
- protein binding
- PDDEXK family nucleases
- Helicase conserved C-terminal domain
- nuclease domain of XPF/MUS81 family proteins
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- helicase_insert_domain
- DEAD-like helicases superfamily
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the FANCM 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
- neoplasia
- hyperplasia
- cancer
- metastasis
- Fanconi anemia
- spermatogenic failure 28
- abdominal cancer
- Fanconi anemia, group A
- premature ovarian failure type 15
- hereditary cancer-predisposing syndrome
role in cell
- cell death
- formation
- formation in
- replication in
- recruitment in
- quantity
- cell viability
- processing
- association
- assembly
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
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FANCM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA duplex unwinding
- resolution of meiotic recombination intermediates
- replication fork processing
- double-strand break repair via synthesis-dependent strand annealing
Cellular Component
Where in the cell the gene product is active
- Fanconi anaemia nuclear complex
- cytosol
- FANCM-MHF complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- RNA helicase activity
- nuclease activity
- four-way junction helicase activity
- chromatin binding
- 3'-5' DNA helicase activity
- four-way junction DNA binding