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This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
FMN1 (Formin 1) is a Protein Coding gene. Diseases associated with FMN1 include Renal Hypoplasia and Thoracic Outlet Syndrome. Among its related pathways are E-cadherin signaling in keratinocytes and Cell adhesion_Cadherin-mediated cell adhesion. Gene Ontology (GO) annotations related to this gene include actin binding and microtubule binding.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH15J033194 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE CraniofacialAtlas | 759.4 | -0.2 | -216 | 1.6 | SP1 FOS L3MBTL2 MNT ZNF148 IKZF1 GLIS2 CREB1 PKNOX1 PRDM10 | FMN1 LOC105370759 lnc-RYR3-1 | |
GH15J033066 | Promoter/Enhancer | 1.6 | EPDnew Ensembl ENCODE CraniofacialAtlas | 768.9 | +127.0 | 127049 | 5.9 | TCF7L2 ZNF217 MNT ELF3 NCOA3 MAFK SP7 CEBPG KAT8 CREB1 | FMN1 lnc-GOLGA8O-9 ENSG00000212415 piR-53063-072 | |
GH15J033209 | Promoter/Enhancer | 1.1 | EPDnew FANTOM5 Ensembl ENCODE | 755.7 | -15.6 | -15617 | 1.2 | POLR2A ZBTB17 | FMN1 RF00017-1743 FJ601684-125 LOC105370759 | |
GH15J033170 | Promoter | 0.3 | EPDnew | 750.3 | +24.2 | 24181 | 0.1 | FMN1 HSALNG0104897 | ||
GH15J033021 | Enhancer | 1 | Ensembl ENCODE CraniofacialAtlas dbSUPER | 25.8 | +171.8 | 171760 | 2.4 | CTCF RAD21 PRDM10 SCRT2 SCRT1 SMC3 ATF2 | FMN1 ENSG00000212415 ENSG00000241818 SCG5 piR-53063-072 lnc-GOLGA8O-9 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IBA | 21873635 |
GO:0008017 | microtubule binding | IBA | 21873635 |
GO:0017124 | SH3 domain binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005789 | endoplasmic reticulum membrane | IBA | 21873635 |
GO:0005884 | actin filament | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell adhesion_Cadherin-mediated cell adhesion | ||
2 | E-cadherin signaling in keratinocytes |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010467 | gene expression | IEA | -- |
GO:0030838 | positive regulation of actin filament polymerization | IEA | -- |
GO:0035136 | forelimb morphogenesis | IEA | -- |
GO:0035137 | hindlimb morphogenesis | IEA | -- |
GO:0045010 | actin nucleation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | FMN1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
mouse (Mus musculus) |
Mammalia | Fmn1 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | FMN1 33 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Fmn1 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | FMN1 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | FMN1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | FMN1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | fmn1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | FMN1 (4 of 4) 33 |
|
OneToMany | |
FMN1 (2 of 4) 33 |
|
OneToMany | |||
FMN1 (3 of 4) 33 |
|
OneToMany | |||
fmn1 33 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | capu 33 |
|
OneToMany |
SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs111822533 | likely-benign, not specified | 33,067,775(-) | G/C/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant | |
rs114851360 | likely-benign, not specified | 32,774,309(-) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs139446870 | likely-benign, not specified | 32,910,491(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs144234543 | likely-benign, not specified | 32,969,387(-) | C/A/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, stop_gained | |
rs199592529 | likely-benign, not specified | 32,964,244(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
renal hypoplasia |
|
|
thoracic outlet syndrome |
|
|
auditory neuropathy, autosomal dominant, 1 |
|
|
sarcomatosis |
|
|
cerebral amyloid angiopathy, itm2b-related, 2 |
|
|