Human Gene FMN1 (ENST00000320930.7_4) from GENCODE V47lift37
  Description: formin 1, transcript variant 3 (from RefSeq NM_001277314.2)
Gencode Transcript: ENST00000320930.7_4
Gencode Gene: ENSG00000248905.10_17
Transcript (Including UTRs)
   Position: hg19 chr15:33,441,985-33,486,897 Size: 44,913 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr15:33,443,459-33,447,115 Size: 3,657 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:33,441,985-33,486,897)mRNA (may differ from genome)Protein (662 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FMN1_HUMAN
DESCRIPTION: RecName: Full=Formin-1; AltName: Full=Limb deformity protein homolog;
FUNCTION: Plays a role in the formation of adherens junction and the polymerization of linear actin cables (By similarity).
SUBUNIT: Interacts with alpha-catenin and may interact with tubulin (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm (By similarity). Cell junction, adherens junction (By similarity). Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Note=Localization to the adherens junctions is alpha- catenin-dependent. Also localizes to F-actin bundles originating from adherens junctions and to microtubules (By similarity).
DEVELOPMENTAL STAGE: Expressed in fetal kidney and fetal lung.
PTM: Phosphorylated on serine and possibly threonine residues (By similarity).
SIMILARITY: Belongs to the formin homology family. Cappuccino subfamily.
SIMILARITY: Contains 1 FH1 (formin homology 1) domain.
SIMILARITY: Contains 1 FH2 (formin homology 2) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FMN1
Diseases sorted by gene-association score: thoracic outlet syndrome (11), auditory neuropathy, autosomal dominant, 1 (9), sarcomatosis (9), renal hypoplasia (7), asphyxiating thoracic dystrophy (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.54 RPKM in Testis
Total median expression: 27.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -141.00467-0.302 Picture PostScript Text
3' UTR -400.301474-0.272 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003104 - Actin-bd_FH2/DRF_autoreg
IPR015425 - FH2_actin-bd
IPR001265 - Formin

ModBase Predicted Comparative 3D Structure on Q68DA7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0008017 microtubule binding
GO:0017124 SH3 domain binding

Biological Process:
GO:0001822 kidney development
GO:0010467 gene expression
GO:0030838 positive regulation of actin filament polymerization
GO:0035136 forelimb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0045010 actin nucleation
GO:0048705 skeletal system morphogenesis
GO:0048813 dendrite morphogenesis
GO:0051127 positive regulation of actin nucleation
GO:0051894 positive regulation of focal adhesion assembly
GO:0060173 limb development
GO:0072092 ureteric bud invasion

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005884 actin filament
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  CR749487 - Homo sapiens mRNA; cDNA DKFZp686C2281 (from clone DKFZp686C2281).
JD395172 - Sequence 376196 from Patent EP1572962.
JD398269 - Sequence 379293 from Patent EP1572962.
JD317985 - Sequence 299009 from Patent EP1572962.
JD549789 - Sequence 530813 from Patent EP1572962.
JD316805 - Sequence 297829 from Patent EP1572962.
JD287828 - Sequence 268852 from Patent EP1572962.
JD357630 - Sequence 338654 from Patent EP1572962.
JD451973 - Sequence 432997 from Patent EP1572962.
JD235746 - Sequence 216770 from Patent EP1572962.
JD227418 - Sequence 208442 from Patent EP1572962.
JD114831 - Sequence 95855 from Patent EP1572962.
JD530323 - Sequence 511347 from Patent EP1572962.
JD389543 - Sequence 370567 from Patent EP1572962.
JD478771 - Sequence 459795 from Patent EP1572962.
JD217998 - Sequence 199022 from Patent EP1572962.
JD365935 - Sequence 346959 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000320930.1, ENST00000320930.2, ENST00000320930.3, ENST00000320930.4, ENST00000320930.5, ENST00000320930.6, FMN, FMN1_HUMAN, LD, NM_001277314, Q3B7I6, Q3ZAR4, Q68DA7, Q6ZSY1, uc317qyx.1
UCSC ID: ENST00000320930.7_4
RefSeq Accession: NM_001277314.2
Protein: Q68DA7 (aka FMN1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.