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    FMN1 formin 1 [ Homo sapiens ]

    Gene ID: 342184, updated on 11-May-2012
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    Summary

    Official Symbol
    FMN1provided by HGNC
    Official Full Name
    formin 1provided by HGNC
    Primary source
    HGNC:3768
    See related
    Ensembl:ENSG00000248905; HPRD:07031; MIM:136535; Vega:OTTHUMG00000172201
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LD; FMN; FLJ45135; MGC125288; MGC125289; DKFZp686C2281; DKFZp686G2387
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    Genomic context

    Location :
    15q13.3
    Sequence :
    Chromosome: 15; NC_000015.9 (33057747..33360085, complement)
    Chromosome: 15; NC_000015.9 (33441985..33486897, complement)
    See FMN1 in Epigenomics, MapViewer

    Chromosome 15 - NC_000015.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100131315 Neighboring gene secretogranin V (7B2 protein) Neighboring gene gremlin 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene Neighboring gene transmembrane and coiled-coil domains 5B, pseudogene Neighboring gene ryanodine receptor 3 Neighboring gene complement component 1, q subcomponent binding protein pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Filopodia initiation: focus on the Arp2/3 complex and formins. Yang C, et al. Cell Adh Migr, 2011 Sep-Oct. PMID 21975549.
    2. Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly. Dimitrov BI, et al. J Med Genet, 2010 Aug. PMID 20610440.
    3. [A study of the single nucleotide polymorphism in seven genes (GHR, IGFBP3, IGFR1, IRS1, FMN1, ANXA2, TaGLN) in ethnic Russians and in patients with prostate cancer]. Lisitskaia KV, et al. Mol Gen Mikrobiol Virusol, 2010. PMID 20540360.
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    5. Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. Ichikawa S, et al. J Bone Miner Res, 2010 Aug. PMID 20200978.

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Filopodia initiation: focus on the Arp2/3 complex and formins.
      Title: Filopodia initiation: focus on the Arp2/3 complex and formins.
    2. Chromosomal imbalances in the GREM1 FMN1 region in individuals with limb defects are reported here.
      Title: Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.
    3. The obtained data indicate the possibility of participation of polymorphism in gene FMN1 in formation of predisposition to prostate cancer.
      Title: [A study of the single nucleotide polymorphism in seven genes (GHR, IGFBP3, IGFR1, IRS1, FMN1, ANXA2, TaGLN) in ethnic Russians and in patients with prostate cancer].
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. both mammalian Spir proteins, Spir-1 and Spir-2, interact with mammalian Fmn subgroup proteins formin-1 and formin-2
      Title: Identification of a short Spir interaction sequence at the C-terminal end of formin subgroup proteins.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: [A study of the single nucleotide polymorphism in seven genes (GHR, IGFBP3, IGFR1, IRS1, FMN1, ANXA2, TaGLN) in ethnic Russians and in patients with prostate cancer].
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:131167 BioGRID:120792 PRPF40A    BioGRID  PubMed Protein-peptide 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • E-cadherin signaling in keratinocytes, organism-specific biosystem (from Pathway Interaction Database)
      E-cadherin signaling in keratinocytes, organism-specific biosystem
      E-cadherin signaling in keratinocytes
    • Folic Acid Network, organism-specific biosystem (from WikiPathways)
      Folic Acid Network, organism-specific biosystemThe folic acid-centred micronutrient biological network. The most relevant biochemical processes related to folic acid in the context of metabolism, oxidation and inflammation are represented. Also, ...
    • Folic Acid Network, organism-specific biosystem (from WikiPathways)
      Folic Acid Network, organism-specific biosystemThe folic acid-centred micronutrient biological network. The most relevant biochemical processes related to folic acid in the context of metabolism, oxidation and inflammation are represented. Also, ...
    • selenium, organism-specific biosystem (from WikiPathways)
      selenium, organism-specific biosystemThe selenium-centred micronutrient biological network. The most relevant biochemical processes related to selenium in the context of metabolism, oxidation and inflammation are represented. Also, the ...
    • selenium, organism-specific biosystem (from WikiPathways)
      selenium, organism-specific biosystemThe selenium-centred micronutrient biological network. The most relevant biochemical processes related to selenium in the context of metabolism, oxidation and inflammation are represented. Also, the ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular component organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    formin-1
    Names
    formin-1
    formin (limb deformity)
    limb deformity protein homolog
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001103184.2 → NP_001096654.1  formin-1

      Status: VALIDATED

      Source sequence(s)
      AC018515, AC019278, AC090877, AC090982
      Consensus CDS
      CCDS45209.1
      UniProtKB/Swiss-Prot
      Q68DA7
      Related
      ENSP00000333950, OTTHUMP00000247849, ENST00000334528, OTTHUMT00000417305
      Conserved Domains (2) summary
      smart00498
      Location:750 – 1147
      Blast Score: 755
      FH2; Formin Homology 2 Domain
      pfam02181
      Location:749 – 1140
      Blast Score: 738
      FH2; Formin Homology 2 Domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000015.9

      Range
      33057747..33360085, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_003403454.1 → XP_003403502.1  

      UniProtKB/Swiss-Prot
      Q68DA7
      Related
      ENSP00000325166, OTTHUMP00000247899, ENST00000320930, OTTHUMT00000417422

    Alternate HuRef

    Genomic

    1. AC_000147.1 Alternate HuRef

      Range
      9919588..10221659, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198500.1: Suppressed sequence

      Description
      NM_198500.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC018515.7 None
    genomic AC019278.6 (75402..84333) None
    genomic AC055874.8 (138432..147193) None
    genomic AC090098.7 (5377..38824) None
    genomic AC090877.4 (100055..181459) None
    genomic AC090982.4 None
    genomic M38684.1 None
    genomic M38685.1 None
    mRNA AI417633.1 None
    mRNA AL833157.1 None
    mRNA BC029107.1 None
    mRNA BC103692.1 AAI03693.1
    mRNA BC107593.1 AAI07594.1
    mRNA CR749487.1 CAH18313.1
    mRNA CR749577.1 None
    other-genetic BC172380.1 AAI72380.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68DA7.3 GenPept UniProtKB/Swiss-Prot:Q68DA7
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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