• Gene id: 342184

Gene Summary

• Gene Symbol: FMN1   Gene   UCSC   Ensembl
• Aliases: FMN, LD
• Gene name: formin 1
• Alternate names: formin-1, formin (limb deformity), limb deformity protein homolog,
• Gene location: 15q13.3 (33194764: 32765543)     Exons: 29     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 612140

Protein Summary

• Protein general information: Q68DA7  
  • Name: Formin 1 (Limb deformity protein homolog)
  • Length: 1419  
  • Mass: 157578
• Sequence:

  MEGTHCTLQLHKPITELCYISFCLPKGEVRGFSYKGTVTLDRSNKGFHNCYQVREESDIISLSQEPDEHPGDIFF
  KQTPTKDILTELYKLTTERERLLTNLLSSDHILGITMGNQEGKLQELSVSLAPEDDCFQSAGDWQGELPVGPLNK
  RSTHGNKKPRRSSGRRESFGALPQKRTKRKGRGGRESAPLMGKDKICSSHSLPLSRTRPNLWVLEEKGNLLPNGA
  LACSLQRRESCPPDIPKTPDTDLGFGSFETAFKDTGLGREVLPPDCSSTEAGGDGIRRPPSGLEHQQTGLSESHQ
  DPEKHPEAEKDEMEKPAKRTCKQKPVSKVVAKVQDLSSQVQRVVKTHSKGKETIAIRPAAHAEFVPKADLLTLPG
  AEAGAHGSRRQGKERQGDRSSQSPAGETASISSVSASAEGAVNKVPLKVIESEKLDEAPEGKRLGFPVHTSVPHT
  RPETRNKRRAGLPLGGHKSLFLDLPHKVGPDSSQPRGDKKKPSPPAPAALGKVFNNSASQSSTHKQTSPVPSPLS
  PRLPSPQQHHRILRLPALPGEREAALNDSPCRKSRVFSGCVSADTLEPPSSAKVTETKGASPAFLRAGQPRLVPG
  ETLEKSLGPGKTTAEPQHQSPPGISSEGFPWDGFNEQTPKDLPNRDGGAWVLGYRAGPACPFLLHEEREKSNRSE
  LYLDLHPDHSLTEQDDRTPGRLQAVWPPPKTKDTEEKVGLKYTEAEYQAAILHLKREHKEEIENLQAQFELRAFH
  IRGEHAMITARLEETIENLKHELEHRWRGGCEERKDVCISTDDDCPPKTFRNVCVQTDRETFLKPCESESKTTRS
  NQLVPKKLNISSLSQLSPPNDHKDIHAALQPMEGMASNQQKALPPPPASIPPPPPLPSGLGSLSPAPPMPPVSAG
  PPLPPPPPPPPPLPPPSSAGPPPPPPPPPLPNSPAPPNPGGPPPAPPPPGLAPPPPPGLFFGLGSSSSQCPRKPA
  IEPSCPMKPLYWTRIQISDRSQNATPTLWDSLEEPDIRDPSEFEYLFSKDTTQQKKKPLSETYEKKNKVKKIIKL
  LDGKRSQTVGILISSLHLEMKDIQQAIFNVDDSVVDLETLAALYENRAQEDELVKIRKYYETSKEEELKLLDKPE
  QFLHELAQIPNFAERAQCIIFRSVFSEGITSLHRKVEIITRASKDLLHVKSVKDILALILAFGNYMNGGNRTRGQ
  ADGYSLEILPKLKDVKSRDNGINLVDYVVKYYLRYYDQEAGTEKSVFPLPEPQDFFLASQVKFEDLIKDLRKLKR
  QLEASEKQMVVVCKESPKEYLQPFKDKLEEFFQKAKKEHKMEESHLENAQKSFETTVRYFGMKPKSGEKEITPSY
  VFMVWYEFCSDFKTIWKRESKNISKERLKMAQESVSKLTSEKKVETKKINPTASLKERLRQKEASVTTN

• Structural information:
  • Protein Domains: (870..95-)
    (/note="FH1-)
    (972..138-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774"-)
  • Interpro: IPR015425  IPR042201  IPR001265  
  • Prosite: PS51444
  • STRING: ENSP00000479134
• Other Databases: GeneCards:  FMN1  Malacards:  FMN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0008017	microtubule binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0008017	microtubule binding	IEA	molecular function
GO:0045010	actin nucleation	IEA	biological process
GO:0005884	actin filament	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0072092	ureteric bud invasion	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0035137	hindlimb morphogenesis	IEA	biological process
GO:0035136	forelimb morphogenesis	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0060173	limb development	IEA	biological process
GO:0051894	positive regulation of focal adhesion assembly	IEA	biological process
GO:0051127	positive regulation of actin nucleation	IEA	biological process
GO:0030838	positive regulation of actin filament polymerization	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray