Gene Gene information from NCBI Gene database.
Entrez ID 342184
Gene name Formin 1
Gene symbol FMN1
Synonyms (NCBI Gene)
FMNLD
Chromosome 15
Chromosome location 15q13.3
Summary 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 splice
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs201555719 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
650
miRTarBase ID miRNA Experiments Reference
MIRT636521 hsa-miR-1307-3p HITS-CLIP 23824327
MIRT636520 hsa-miR-4638-5p HITS-CLIP 23824327
MIRT636519 hsa-miR-6499-3p HITS-CLIP 23824327
MIRT636518 hsa-miR-3135b HITS-CLIP 23824327
MIRT636517 hsa-miR-504-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
136535 3768 ENSG00000248905
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q68DA7
Protein name Formin-1 (Limb deformity protein homolog)
Protein function Plays a role in the formation of adherens junction and the polymerization of linear actin cables.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02181 FH2 972 1363 Formin Homology 2 Domain Family
Sequence
MEGTHCTLQLHKPITELCYISFCLPKGEVRGFSYKGTVTLDRSNKGFHNCYQVREESDII
SLSQEPDEHPGDIFFKQTPTKDILTELYKLTTERERLLTNLLSSDHILGITMGNQEGKLQ
ELSVSLAPEDDCFQSAGDWQGELPVGPLNKRSTHGNKKPRRSSGRRESFGALPQKRTKRK
GRGGRESAPLMGKDKICSSHSLPLSRTRPNLWVLEEKGNLLPNGALACSLQRRESCPPDI
PKTPDTDLGFGSFETAFKDTGLGREVLPPDCSSTEAGGDGIRRPPSGLEHQQTGLSESHQ
DPEKHPEAEKDEMEKPAKRTCKQKPVSKVVAKVQDLSSQVQRVVKTHSKGKETIAIRPAA
HAEFVPKADLLTLPGAEAGAHGSRRQGKERQGDRSSQSPAGETASISSVSASAEGAVNKV
PLKVIESEKLDEAPEGKRLGFPVHTSVPHTRPETRNKRRAGLPLGGHKSLFLDLPHKVGP
DSSQPRGDKKKPSPPAPAALGKVFNNSASQSSTHKQTSPVPSPLSPRLPSPQQHHRILRL
PALPGEREAALNDSPCRKSRVFSGCVSADTLEPPSSAKVTETKGASPAFLRAGQPRLVPG
ETLEKSLGPGKTTAEPQHQSPPGISSEGFPWDGFNEQTPKDLPNRDGGAWVLGYRAGPAC
PFLLHEEREKSNRSELYLDLHPDHSLTEQDDRTPGRLQAVWPPPKTKDTEEKVGLKYTEA
EYQAAILHLKREHKEEIENLQAQFELRAFHIRGEHAMITARLEETIENLKHELEHRWRGG
CEERKDVCISTDDDCPPKTFRNVCVQTDRETFLKPCESESKTTRSNQLVPKKLNISSLSQ
LSPPNDHKDIHAALQPMEGMASNQQKALPPPPASIPPPPPLPSGLGSLSPAPPMPPVSAG
PPLPPPPPPPPPLPPPSSAGPPPPPPPPPLPNSPAPPNPGGPPPAPPPPGLAPPPPPGLF
FGLGSSSSQCPRKPAIEPSCPMKPLYWTRIQISDRSQNATPTLWDSLEEPDIRDPSEFEY
LFSKDTTQQKKKPLSETYEKKNKVKKIIKLLDGKRSQTVGILISSLHLEMKDIQQAIFNV
DDSVVDLETLAALYENRAQEDELVKIRKYYETSKEEELKLLDKPEQFLHELAQIPNFAER
AQCIIFRSVFSEGITSLHRKVEIITRASKDLLHVKSVKDILALILAFGNYMNGGNRTRGQ
ADGYSLEILPKLKDVKSRDNGINLVDYVVKYYLRYYDQEAGTEKSVFPLPEPQDFFLASQ
VKFEDLIKDLRKLKRQLEASEKQMVVVCKESPKEYLQPFKDKLEEFFQKAKKEHKMEESH
LENAQKSFETTVRYFGMKPKSGEKEITPSYVFMVWYEFCSDFK
TIWKRESKNISKERLKM
AQESVSKLTSEKKVETKKINPTASLKERLRQKEASVTTN
Sequence length 1419
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
55
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign; Benign rs537060596, rs61746221 RCV005926408
RCV005904929
Cholangiocarcinoma Benign rs11637012 RCV005915108
Colorectal cancer Uncertain significance rs200347139 RCV005930659
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs2505961065 RCV004560278
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cerebral Palsy Ataxic Autosomal Recessive Associate 19096130
Colorectal Neoplasms Associate 29945573, 37249599
Drug Related Side Effects and Adverse Reactions Inhibit 32054832
Glioblastoma Associate 34559979
Mitochondrial complex I deficiency Associate 29976978
N syndrome Stimulate 29945573
Neoplasms Associate 36076540
Obesity Associate 37249599
Obsessive Compulsive Disorder Associate 25303678
Overweight Associate 37249599