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FMN1 formin 1 [ Homo sapiens (human) ]

Gene ID: 342184, updated on 5-Mar-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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Location:
15q13.3
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (32765544..33194714, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (30562099..30991198, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 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
  2. New nuclear and perinuclear functions of formins. Isogai T, et al. Biochem Soc Trans, 2016 Dec 15. PMID 27913680
  3. 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
  4. Identification and characterization of the human FMN1 gene in silico. Katoh M, et al. Int J Mol Med, 2004 Jul. PMID 15202026
  5. Filopodia initiation: focus on the Arp2/3 complex and formins. Yang C, et al. Cell Adh Migr, 2011 Sep-Oct. PMID 21975549, Free PMC Article

See all (31) 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)

Genotypes

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
  
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
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 cytoplasm IBA
Inferred from Biological aspect of Ancestor
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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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_2023_10

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

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