Human Gene FMNL1 (ENST00000331495.8_6) from GENCODE V47lift37
  Description: formin like 1 (from RefSeq NM_005892.4)
Gencode Transcript: ENST00000331495.8_6
Gencode Gene: ENSG00000184922.15_15
Transcript (Including UTRs)
   Position: hg19 chr17:43,299,252-43,324,685 Size: 25,434 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg19 chr17:43,299,492-43,323,963 Size: 24,472 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:43,299,252-43,324,685)mRNA (may differ from genome)Protein (1100 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
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-  Comments and Description Text from UniProtKB
  ID: FMNL_HUMAN
DESCRIPTION: RecName: Full=Formin-like protein 1; AltName: Full=CLL-associated antigen KW-13; AltName: Full=Leukocyte formin;
FUNCTION: May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape.
SUBUNIT: Interacts with RAC1, PFN1 and PFN2 (By similarity). Interacts (activated by RAC1) with SRGAP2 (via SH3 domain); regulates the actin filament severing activity of FMNL1.
INTERACTION: O75044:SRGAP2; NbExp=3; IntAct=EBI-720020, EBI-1051034;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cell membrane; Lipid-anchor. Cytoplasmic vesicle, phagosome (By similarity). Note=Recruited to actin-rich phagosomes during phagocytosis. Translocates to the plasma membrane upon activation by RAC1 (By similarity).
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cell cortex. Cell projection, bleb. Note=Colocalized with F-actin in bleb protrusions.
TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
DOMAIN: The DAD domain regulates activation via by an autoinhibitory interaction with the N-terminus. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
PTM: Myristoylation mediates membrane localization and blebbing.
SIMILARITY: Belongs to the formin homology family.
SIMILARITY: Contains 1 DAD (diaphanous autoregulatory) domain.
SIMILARITY: Contains 1 FH2 (formin homology 2) domain.
SIMILARITY: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.
SEQUENCE CAUTION: Sequence=AAH21906.1; Type=Erroneous initiation; Sequence=CAA07870.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 134.80 RPKM in Whole Blood
Total median expression: 557.78 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -111.40240-0.464 Picture PostScript Text
3' UTR -165.20460-0.359 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
IPR016024 - ARM-type_fold
IPR014767 - Diaphanous_autoregulatory
IPR010472 - Drf_FH3
IPR010473 - Drf_GTPase-bd
IPR015425 - FH2_actin-bd
IPR014768 - GTPase-bd/formin_homology_3

Pfam Domains:
PF02181 - Formin Homology 2 Domain
PF06367 - Diaphanous FH3 Domain
PF06371 - Diaphanous GTPase-binding Domain

SCOP Domains:
48371 - ARM repeat
101447 - Formin homology 2 domain (FH2 domain)
81995 - beta-sandwich domain of Sec23/24
52540 - P-loop containing nucleoside triphosphate hydrolases
58113 - Apolipoprotein A-I

ModBase Predicted Comparative 3D Structure on O95466
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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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005522 profilin binding
GO:0017048 Rho GTPase binding
GO:0032794 GTPase activating protein binding
GO:0048365 Rac GTPase binding
GO:0051015 actin filament binding

Biological Process:
GO:0006929 substrate-dependent cell migration
GO:0007010 cytoskeleton organization
GO:0008360 regulation of cell shape
GO:0009987 cellular process
GO:0016043 cellular component organization
GO:0030036 actin cytoskeleton organization
GO:0030866 cortical actin cytoskeleton organization
GO:0051014 actin filament severing

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0016020 membrane
GO:0031410 cytoplasmic vesicle
GO:0032059 bleb
GO:0042995 cell projection
GO:0045335 phagocytic vesicle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AY278319 - Homo sapiens leukocyte formin mRNA, complete cds.
BC111564 - Homo sapiens formin-like 1, mRNA (cDNA clone MGC:133052 IMAGE:40008718), complete cds.
BC042925 - Homo sapiens formin-like 1, mRNA (cDNA clone IMAGE:5220568), with apparent retained intron.
AX721309 - Sequence 269 from Patent WO0220754.
AF432213 - Homo sapiens CLL-associated antigen KW-13 mRNA, partial cds.
AK131091 - Homo sapiens mRNA for FLJ00304 protein.
BC073988 - Homo sapiens formin-like 1, mRNA (cDNA clone IMAGE:5729432), partial cds.
BC021906 - Homo sapiens formin-like 1, mRNA (cDNA clone IMAGE:4343469), complete cds.
JD310044 - Sequence 291068 from Patent EP1572962.
JD211608 - Sequence 192632 from Patent EP1572962.
JD137796 - Sequence 118820 from Patent EP1572962.
JD399320 - Sequence 380344 from Patent EP1572962.
JD470929 - Sequence 451953 from Patent EP1572962.
JD219030 - Sequence 200054 from Patent EP1572962.
JD161812 - Sequence 142836 from Patent EP1572962.
JD405701 - Sequence 386725 from Patent EP1572962.
JD075705 - Sequence 56729 from Patent EP1572962.
BC064572 - Homo sapiens cDNA clone IMAGE:5732058, containing frame-shift errors.
JD128993 - Sequence 110017 from Patent EP1572962.
JD406316 - Sequence 387340 from Patent EP1572962.
JD092754 - Sequence 73778 from Patent EP1572962.
AJ008113 - Homo sapiens C17orf1 gene, exon 1 5'.
AJ008112 - Homo sapiens mRNA for C17orf1 protein.
BC001710 - Homo sapiens formin-like 1, mRNA (cDNA clone IMAGE:3542908), partial cds.
CU692414 - Synthetic construct Homo sapiens gateway clone IMAGE:100019519 5' read FMNL1 mRNA.
CR456759 - Homo sapiens full open reading frame cDNA clone RZPDo834C084D for gene FMNL1, formin-like 1; complete cds, incl. stopcodon.
KJ901308 - Synthetic construct Homo sapiens clone ccsbBroadEn_10702 FMNL1 gene, encodes complete protein.
AJ008114 - Homo sapiens C17orf1 gene, exon 1 3'.
AJ008115 - Homo sapiens C17orf1 gene, exon 2 5'.
FJ534522 - Homo sapiens FMNL1 splice variant gamma mRNA, partial cds, alternatively spliced.
AJ008116 - Homo sapiens C17orf1 gene, exon 2 3'.
AJ008117 - Homo sapiens C17orf1 gene, exon 3 5'.
AJ008118 - Homo sapiens C17orf1 gene, exon 3 3'.
AJ008119 - Homo sapiens C17orf1 gene, exon 4 5'.
AJ008120 - Homo sapiens C17orf1 gene, exon 4 3'.
AJ008121 - Homo sapiens C17orf1 gene, exon 5 5'.
AJ008122 - Homo sapiens C17orf1 gene, exon 5 3'.
AJ008123 - Homo sapiens C17orf1 gene, exon 6 5'.
BC009000 - Homo sapiens formin-like 1, mRNA (cDNA clone IMAGE:3452497), partial cds.
AJ008124 - Homo sapiens C17orf1 gene, exon 6 3'.
AJ008125 - Homo sapiens C17orf1 gene, exon 7 5'.
AJ008126 - Homo sapiens C17orf1 gene, exon 7 3'.
AJ008127 - Homo sapiens C17orf1 gene, exon 8 5'.
AJ008128 - Homo sapiens C17orf1 gene, exon 8 3'.
AJ008129 - Homo sapiens C17orf1 gene, exon 9 5'.
AJ008130 - Homo sapiens C17orf1 gene, exon 9 3'.
AJ008131 - Homo sapiens C17orf1 gene, exon 10, 5'.
AJ008132 - Homo sapiens C17orf1 gene, exon 10, 3'.
AJ008133 - Homo sapiens C17orf1 gene, exon 11, 5'.
JD144245 - Sequence 125269 from Patent EP1572962.
JD438272 - Sequence 419296 from Patent EP1572962.
JD209068 - Sequence 190092 from Patent EP1572962.
JD535266 - Sequence 516290 from Patent EP1572962.
JD390444 - Sequence 371468 from Patent EP1572962.
JD534594 - Sequence 515618 from Patent EP1572962.
JD389296 - Sequence 370320 from Patent EP1572962.
JD389771 - Sequence 370795 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95466 (Reactome details) participates in the following event(s):

R-HSA-5663232 FMNL1 binds RAC1:GTP
R-HSA-5665686 FMNL1 binds CDC42:GTP
R-HSA-5665809 SRGAP2 stimulates RAC1 GTP-ase activity and ends FMNL1-mediated elongation of actin filaments
R-HSA-5665659 RAC1:GTP:FMNL1 binds profilin:G-actin
R-HSA-5665802 SRGAP2 binds RAC1:GTP:FMNL1:profilin:G-actin
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-195258 RHO GTPase Effectors
R-HSA-194315 Signaling by Rho GTPases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: C17orf1, C17orf1B, D2DGW2, ENST00000331495.1, ENST00000331495.2, ENST00000331495.3, ENST00000331495.4, ENST00000331495.5, ENST00000331495.6, ENST00000331495.7, FMNL, FMNL1_HUMAN, FRL1, NM_005892, O95466, Q6DKG5, Q6IBP3, Q86UH1, Q8N671, Q8TDH1, Q96H10, uc317tft.1, uc317tft.2
UCSC ID: ENST00000331495.8_6
RefSeq Accession: NM_005892.4
Protein: O95466 (aka FMNL_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.