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    FMN1 formin 1 [ Homo sapiens (human) ]

    Gene ID: 342184, updated on 27-Dec-2024

    Summary

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    Official Symbol
    FMN1provided by HGNC
    Official Full Name
    formin 1provided by HGNC
    Primary source
    HGNC:HGNC:3768
    See related
    Ensembl:ENSG00000248905 MIM:136535; AllianceGenome:HGNC:3768
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LD; FMN
    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 spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
    Expression
    Broad expression in testis (RPKM 2.4), colon (RPKM 1.7) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FMN1 in Genome Data Viewer
    Location:
    15q13.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (32765544..33194714, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (30562099..30991198, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (33057745..33486915, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ARHGAP11A-SCG5 readthrough Neighboring gene uncharacterized LOC105370756 Neighboring gene Sharpr-MPRA regulatory region 2498 Neighboring gene secretogranin V Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33009711-33010211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:33010349-33010927 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:33010928-33011505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33023067-33023606 Neighboring gene GREM1 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:33065769-33066968 Neighboring gene gremlin 1, DAN family BMP antagonist Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:33073959-33074522 Neighboring gene uncharacterized LOC107984089 Neighboring gene microtubule-associated proteins 1A/1B light chain 3 beta 2-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:33148981-33149879 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:33191133-33191662 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:33191663-33192192 Neighboring gene NANOG hESC enhancer GRCh37_chr15:33210757-33211325 Neighboring gene uncharacterized LOC124903460 Neighboring gene small nucleolar RNA SNORD77 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 71 Neighboring gene uncharacterized LOC124903459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:33359268-33360091 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:33437521-33438720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6269 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:33486894-33487233 Neighboring gene uncharacterized LOC105370759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9169 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:33530426-33530595 Neighboring gene transmembrane and coiled-coil domains 5B (pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of the human FMN1 gene in silico. Katoh M, et al. Int J Mol Med, 2004 Jul. PMID 15202026
    2. Formin-generated actomyosin arcs propel T cell receptor microcluster movement at the immune synapse. Murugesan S, et al. J Cell Biol, 2016 Nov 7. PMID 27799367, Free PMC Article
    3. Formin-dependent TGF-β signaling for epithelial to mesenchymal transition. Rana MK, et al. Mol Biol Cell, 2018 Jun 15. PMID 29668357, Free PMC Article
    4. New nuclear and perinuclear functions of formins. Isogai T, et al. Biochem Soc Trans, 2016 Dec 15. PMID 27913680
    5. 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

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk.
      Title: Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk.
    2. In the article it is discussed how and to what extent formins-mediated F-actin restoration might confer mechanostress resistance to the cell. (Review)
      Title: Mechanostress resistance involving formin homology proteins: G- and F-actin homeostasis-driven filament nucleation and helical polymerization-mediated actin polymer stabilization.
    3. These findings reveal a previously unrecognized role for formin-dependent actin architectures in proximal TGF-beta signaling
      Title: Formin-dependent TGF-β signaling for epithelial to mesenchymal transition.
    4. Formin-1 (FMN1) was shown to reside in the nucleus and studies indicate that some formins can shuttle in and out of the nucleus.
      Title: New nuclear and perinuclear functions of formins.
    5. actin arcs populating the medial, lamella-like region of the immunological synapse (IS) arise from linear actin filaments generated by one or more formins present at the IS distal edge.
      Title: Formin-generated actomyosin arcs propel T cell receptor microcluster movement at the immune synapse.
    6. Filopodia initiation: focus on the Arp2/3 complex and formins.
      Title: Filopodia initiation: focus on the Arp2/3 complex and formins.
    7. 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.
    8. 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].
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog
    Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
    EBI GWAS Catalog
    Genome-wide interaction study of smoking and bladder cancer risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ45135, MGC125288, MGC125289, DKFZp686C2281, DKFZp686G2387

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin nucleation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of actin nucleation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of focal adhesion assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ureteric bud invasion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in actin filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    formin-1
    Names
    formin (limb deformity)
    limb deformity protein homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_042863.1 RefSeqGene

      Range
      5020..434190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001103184.4 → NP_001096654.1  formin-1 isoform b

      See identical proteins and their annotated locations for NP_001096654.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC018515, AC019278, AC090877, AK127078, BC103692, BM663620
      Consensus CDS
      CCDS45209.1
      UniProtKB/Swiss-Prot
      Q68DA7
      Related
      ENSP00000333950.9, ENST00000334528.13
      Conserved Domains (2) summary
      PTZ00459
      Location:73 → 295
      PTZ00459; mucin-associated surface protein (MASP); Provisional
      smart00498
      Location:750 → 1147
      FH2; Formin Homology 2 Domain

    2. NM_001277313.2 → NP_001264242.1  formin-1 isoform a

      See identical proteins and their annotated locations for NP_001264242.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). The exon combination of this variant is inferred based on partial human and full-length orthologous transcript alignments.
      Source sequence(s)
      AC018515, AC055874, AC090098, AC090877, AI040235, AK127078, BM663620, HY009284
      Consensus CDS
      CCDS61581.1
      UniProtKB/Swiss-Prot
      Q3B7I6, Q3ZAR4, Q68DA7, Q6ZSY1
      Related
      ENSP00000479134.1, ENST00000616417.5
      Conserved Domains (1) summary
      smart00498
      Location:973 → 1370
      FH2; Formin Homology 2 Domain

    3. NM_001277314.2 → NP_001264243.1  formin-1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several central and 3' region exons, but it includes an alternate 3' terminal exon and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has the same N-terminus but it contains a distinct and significantly shorter C-terminus, compared to isoform a.
      Source sequence(s)
      AC019278, AC055874, AC090098, CR749487, HY009284
      Consensus CDS
      CCDS61582.1
      UniProtKB/Swiss-Prot
      Q68DA7
      Related
      ENSP00000325166.7, ENST00000320930.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      32765544..33194714 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521509.4 → XP_011519811.1  formin-1 isoform X9

      Conserved Domains (1) summary
      smart00498
      Location:423 → 820
      FH2; Formin Homology 2 Domain

    2. XM_011521504.4 → XP_011519806.1  formin-1 isoform X1

      See identical proteins and their annotated locations for XP_011519806.1

      UniProtKB/Swiss-Prot
      Q3B7I6, Q3ZAR4, Q68DA7, Q6ZSY1
      Conserved Domains (1) summary
      smart00498
      Location:973 → 1370
      FH2; Formin Homology 2 Domain

    3. XM_047432436.1 → XP_047288392.1  formin-1 isoform X4

      UniProtKB/TrEMBL
      H0YM30
      Related
      ENSP00000453443.1, ENST00000561249.5

    4. XM_047432440.1 → XP_047288396.1  formin-1 isoform X12

    5. XM_017022134.3 → XP_016877623.1  formin-1 isoform X13

    6. XM_017022132.3 → XP_016877621.1  formin-1 isoform X10

      UniProtKB/TrEMBL
      A0A5F9ZHS8
      Related
      ENSP00000500647.1, ENST00000672206.1

    7. XM_011521511.4 → XP_011519813.1  formin-1 isoform X11

      Conserved Domains (1) summary
      smart00498
      Location:381 → 778
      FH2; Formin Homology 2 Domain

    8. XM_047432441.1 → XP_047288397.1  formin-1 isoform X14

    9. XM_047432437.1 → XP_047288393.1  formin-1 isoform X6

    10. XM_011521505.3 → XP_011519807.1  formin-1 isoform X2

      Conserved Domains (1) summary
      smart00498
      Location:973 → 1309
      FH2; Formin Homology 2 Domain

    11. XM_047432438.1 → XP_047288394.1  formin-1 isoform X7

    12. XM_017022131.2 → XP_016877620.1  formin-1 isoform X3

    13. XM_047432439.1 → XP_047288395.1  formin-1 isoform X8

    14. XM_011521507.3 → XP_011519809.1  formin-1 isoform X5

      Conserved Domains (1) summary
      smart00498
      Location:973 → 1284
      FH2; Formin Homology 2 Domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

      Range
      4817689..4993239 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_012132920.1 Reference GRCh38.p14 PATCHES

      Range
      2283958..2352906 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      4980141..5155691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      30562099..30991198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377823.1 → XP_054233798.1  formin-1 isoform X9

    2. XM_054377815.1 → XP_054233790.1  formin-1 isoform X1

    3. XM_054377818.1 → XP_054233793.1  formin-1 isoform X4

    4. XM_054377827.1 → XP_054233802.1  formin-1 isoform X12

    5. XM_054377828.1 → XP_054233803.1  formin-1 isoform X13

    6. XM_054377824.1 → XP_054233799.1  formin-1 isoform X10

    7. XM_054377826.1 → XP_054233801.1  formin-1 isoform X11

    8. XM_054377825.1 → XP_054233800.1  formin-1 isoform X15

    9. XM_054377820.1 → XP_054233795.1  formin-1 isoform X6

    10. XM_054377816.1 → XP_054233791.1  formin-1 isoform X2

    11. XM_054377821.1 → XP_054233796.1  formin-1 isoform X7

    12. XM_054377817.1 → XP_054233792.1  formin-1 isoform X3

    13. XM_054377822.1 → XP_054233797.1  formin-1 isoform X8

    14. XM_054377819.1 → XP_054233794.1  formin-1 isoform X5

    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 removed because the CDS was partial, and it has been replaced by full-length RefSeq, NM_001103184.3.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68DA7.3 GenPept UniProtKB/Swiss-Prot:Q68DA7

    Gene LinkOut

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

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