Human Gene FHOD1 (ENST00000258201.9) from GENCODE V44
  Description: Homo sapiens formin homology 2 domain containing 1 (FHOD1), transcript variant 2, mRNA. (from RefSeq NM_013241)
RefSeq Summary (NM_013241): This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].
Gencode Transcript: ENST00000258201.9
Gencode Gene: ENSG00000135723.14
Transcript (Including UTRs)
   Position: hg38 chr16:67,229,389-67,247,481 Size: 18,093 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg38 chr16:67,229,636-67,247,410 Size: 17,775 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:67,229,389-67,247,481)mRNA (may differ from genome)Protein (1164 aa)
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-  Comments and Description Text from UniProtKB
  ID: FHOD1_HUMAN
DESCRIPTION: RecName: Full=FH1/FH2 domain-containing protein 1; AltName: Full=Formin homolog overexpressed in spleen 1; Short=FHOS; AltName: Full=Formin homology 2 domain-containing protein 1;
FUNCTION: Required for the assembly of F-actin structures, such as stress fibers. Depends on the Rho-ROCK cascade for its activity. Contributes to the coordination of microtubules with actin fibers and plays a role in cell elongation. Acts synergistically with ROCK1 to promote SRC-dependent non-apoptotic plasma membrane blebbing.
SUBUNIT: Self-associates via the FH2 domain. Binds to F-actin via its N-terminus. Binds to the cytoplasmic domain of CD21 via its C- terminus. Interacts with ROCK1 in a Src-dependent manner.
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, bleb. Note=Predominantly cytoplasmic.
TISSUE SPECIFICITY: Ubiquitous. Highly expressed in spleen.
DOMAIN: The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. 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.
PTM: Phosphorylated by ROCK1.
SIMILARITY: Belongs to the formin homology family.
SIMILARITY: Contains 1 DAD (diaphanous autoregulatory) domain.
SIMILARITY: Contains 1 FH1 (formin homology 1) domain.
SIMILARITY: Contains 1 FH2 (formin homology 2) domain.
SIMILARITY: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.

-  Primer design for this transcript
 

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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: FHOD1
Diseases sorted by gene-association score: bardet-biedl syndrome (1)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 113.18 RPKM in Spleen
Total median expression: 693.28 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.2071-0.454 Picture PostScript Text
3' UTR -86.50247-0.350 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
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR015425 - FH2_actin-bd
IPR014768 - GTPase-bd/formin_homology_3

Pfam Domains:
PF02181 - Formin Homology 2 Domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3DAD - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y613
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0042802 identical protein binding
GO:0043621 protein self-association

Biological Process:
GO:0007097 nuclear migration
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051492 regulation of stress fiber assembly
GO:0051496 positive regulation of stress fiber assembly
GO:0051660 establishment of centrosome localization

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0032059 bleb
GO:0042995 cell projection
GO:0001725 stress fiber


-  Descriptions from all associated GenBank mRNAs
  AF113615 - Homo sapiens FH1/FH2 domain-containing protein FHOS (FHOS) mRNA, complete cds.
AB209584 - Homo sapiens mRNA for P127 variant protein.
AY192154 - Homo sapiens FHOS mRNA, complete cds.
BC033084 - Homo sapiens formin homology 2 domain containing 1, mRNA (cDNA clone MGC:45650 IMAGE:5456031), complete cds.
AB041046 - Homo sapiens mRNA for p127, complete cds.
AK301157 - Homo sapiens cDNA FLJ55372 complete cds, highly similar to FH1/FH2 domain-containing protein.
KJ658417 - Homo sapiens FH1/FH2 domain-containing protein 1 variant (FHOD1) mRNA, complete cds, alternatively spliced.
KJ898721 - Synthetic construct Homo sapiens clone ccsbBroadEn_08115 FHOD1 gene, encodes complete protein.
AK304232 - Homo sapiens cDNA FLJ54238 complete cds, highly similar to FH1/FH2 domain-containing protein.
AK025992 - Homo sapiens cDNA: FLJ22339 fis, clone HRC06020, highly similar to AF113615 Homo sapiens FH1/FH2 domain-containing protein FHOS (FHOS) mRNA.
JD281887 - Sequence 262911 from Patent EP1572962.
JD386814 - Sequence 367838 from Patent EP1572962.
JD449010 - Sequence 430034 from Patent EP1572962.
JD157810 - Sequence 138834 from Patent EP1572962.
JD231336 - Sequence 212360 from Patent EP1572962.
JD400666 - Sequence 381690 from Patent EP1572962.
JD034038 - Sequence 15062 from Patent EP1572962.
JD024400 - Sequence 5424 from Patent EP1572962.
LF212231 - JP 2014500723-A/19734: Polycomb-Associated Non-Coding RNAs.
MA447808 - JP 2018138019-A/19734: Polycomb-Associated Non-Coding RNAs.
JD532411 - Sequence 513435 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000258201.1, ENST00000258201.2, ENST00000258201.3, ENST00000258201.4, ENST00000258201.5, ENST00000258201.6, ENST00000258201.7, ENST00000258201.8, FHOD1_HUMAN, FHOS, FHOS1, NM_013241, Q59F76, Q6Y1F2, Q76MS8, Q8N521, Q9Y613, uc002esl.1, uc002esl.2, uc002esl.3, uc002esl.4, uc002esl.5
UCSC ID: ENST00000258201.9
RefSeq Accession: NM_013241
Protein: Q9Y613 (aka FHOD1_HUMAN or FHOS_HUMAN)
CCDS: CCDS10834.1

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