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Aliases for FHOD1 Gene

Aliases for FHOD1 Gene

  • Formin Homology 2 Domain Containing 1 2 3 5
  • Formin Homolog Overexpressed In Spleen 1 3 4
  • FHOS 3 4
  • Formin Homology 2 Domain-Containing Protein 1 4
  • FH1/FH2 Domain-Containing Protein 1 3
  • FHOS1 4

External Ids for FHOD1 Gene

Previous GeneCards Identifiers for FHOD1 Gene

  • GC16M057957
  • GC16M067641
  • GC16M066998
  • GC16M067039
  • GC16M065820
  • GC16M053136

Summaries for FHOD1 Gene

Entrez Gene Summary for FHOD1 Gene

  • 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]

GeneCards Summary for FHOD1 Gene

FHOD1 (Formin Homology 2 Domain Containing 1) is a Protein Coding gene. Diseases associated with FHOD1 include Bardet-Biedl Syndrome. GO annotations related to this gene include identical protein binding and actin binding. An important paralog of this gene is FHOD3.

UniProtKB/Swiss-Prot for FHOD1 Gene

  • 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.

Gene Wiki entry for FHOD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FHOD1 Gene

Genomics for FHOD1 Gene

Regulatory Elements for FHOD1 Gene

Enhancers for FHOD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G067239 1.8 FANTOM5 ENCODE dbSUPER 13.4 +2.9 2924 10.3 MLX CREB3L1 AGO1 ZFP64 DMAP1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 CENPT E2F4 ATP6V0D1 ACD FHOD1 ELMO3 RANBP10 ENSG00000270165 ZDHHC1 THAP11
GH16G067389 1.6 Ensembl ENCODE dbSUPER 11.4 -147.3 -147312 11.5 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF143 KLF13 ZNF263 SP3 LRRC36 ATP6V0D1 FHOD1 ZDHHC1 HSD11B2 PLEKHG4 ENSG00000260465 PRMT7 TPPP3
GH16G067413 1.5 Ensembl ENCODE dbSUPER 11.2 -167.4 -167422 4.0 HDGF FOXA2 SIN3A ARID4B ZNF48 YY1 ZNF121 ZNF143 ZNF207 REST PRMT7 ATP6V0D1 LRRC36 FHOD1 PLEKHG4 LRRC29 TMEM208 HSD11B2 DPEP2 ZDHHC1
GH16G066871 1.6 FANTOM5 ENCODE 7.8 +373.8 373818 5.1 CREB3L1 MLX FEZF1 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 E2F4 CES2 CA7 PLEKHG4 ZDHHC1 KIAA0895L CENPT ENSG00000260465 FAM96B FBXL8
GH16G068077 2 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -838.0 -838024 16.0 CREB3L1 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 PRMT7 DPEP2 DUS2 E2F4 SLC7A6OS ENSG00000212445 PLEKHG4 SLC7A6 NFATC3 DPEP3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FHOD1 on UCSC Golden Path with GeneCards custom track

Promoters for FHOD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087089 758 1801 HDGF PKNOX1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9
ENSR00000281260 -1142 801 ATF1 ZNF76 GLIS2 EGR1 CREM SMARCA5 KLF11 USF2 GATAD2B REST

Genomic Location for FHOD1 Gene

Chromosome:
16
Start:
67,229,387 bp from pter
End:
67,247,658 bp from pter
Size:
18,272 bases
Orientation:
Minus strand

Genomic View for FHOD1 Gene

Genes around FHOD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FHOD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FHOD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FHOD1 Gene

Proteins for FHOD1 Gene

  • Protein details for FHOD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y613-FHOD1_HUMAN
    Recommended name:
    FH1/FH2 domain-containing protein 1
    Protein Accession:
    Q9Y613
    Secondary Accessions:
    • Q59F76
    • Q6Y1F2
    • Q76MS8
    • Q8N521

    Protein attributes for FHOD1 Gene

    Size:
    1164 amino acids
    Molecular mass:
    126551 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for FHOD1 Gene

neXtProt entry for FHOD1 Gene

Post-translational modifications for FHOD1 Gene

No data available for DME Specific Peptides for FHOD1 Gene

Domains & Families for FHOD1 Gene

Protein Domains for FHOD1 Gene

Suggested Antigen Peptide Sequences for FHOD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y613

UniProtKB/Swiss-Prot:

FHOD1_HUMAN :
  • 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.
  • Belongs to the formin homology family.
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.
Family:
  • Belongs to the formin homology family.
genes like me logo Genes that share domains with FHOD1: view

No data available for Gene Families for FHOD1 Gene

Function for FHOD1 Gene

Molecular function for FHOD1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for FHOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 15095401
GO:0019904 protein domain specific binding IPI 16361249
GO:0042802 identical protein binding IPI 18239683
GO:0043621 protein self-association IMP 16361249
genes like me logo Genes that share ontologies with FHOD1: view
genes like me logo Genes that share phenotypes with FHOD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FHOD1 Gene

Localization for FHOD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FHOD1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, bleb. Note=Predominantly cytoplasmic.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FHOD1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FHOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 colocalizes_with stress fiber IDA 15095401
GO:0005634 nucleus IDA 15095401
GO:0005737 cytoplasm TAS 10352228
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FHOD1: view

Pathways & Interactions for FHOD1 Gene

SuperPathways for FHOD1 Gene

No Data Available

SIGNOR curated interactions for FHOD1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FHOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007097 nuclear migration IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IMP,IDA 16361249
GO:0051492 regulation of stress fiber assembly IMP 16361249
GO:0051496 positive regulation of stress fiber assembly IDA 15095401
GO:0051660 establishment of centrosome localization IEA --
genes like me logo Genes that share ontologies with FHOD1: view

No data available for Pathways by source for FHOD1 Gene

Drugs & Compounds for FHOD1 Gene

No Compound Related Data Available

Transcripts for FHOD1 Gene

Unigene Clusters for FHOD1 Gene

Formin homology 2 domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FHOD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b ^
SP1:
SP2: -
SP3:
SP4:
SP5: - - -
SP6: - - -
SP7: - -
SP8:
SP9:
SP10:
SP11:

ExUns: 18a · 18b ^ 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22 ^ 23
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8: - - -
SP9:
SP10:
SP11:

Relevant External Links for FHOD1 Gene

GeneLoc Exon Structure for
FHOD1
ECgene alternative splicing isoforms for
FHOD1

Expression for FHOD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FHOD1 Gene

mRNA differential expression in normal tissues according to GTEx for FHOD1 Gene

This gene is overexpressed in Spleen (x7.7) and Muscle - Skeletal (x5.4).

Protein differential expression in normal tissues from HIPED for FHOD1 Gene

This gene is overexpressed in Amniocyte (30.6), Bone marrow mesenchymal stem cell (23.9), and Peripheral blood mononuclear cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FHOD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FHOD1 Gene:

FHOD1

SOURCE GeneReport for Unigene cluster for FHOD1 Gene:

Hs.95231

mRNA Expression by UniProt/SwissProt for FHOD1 Gene:

Q9Y613-FHOD1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in spleen.

Evidence on tissue expression from TISSUES for FHOD1 Gene

  • Spleen(4.5)
  • Blood(4.3)
  • Liver(4.1)
  • Muscle(2.6)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with FHOD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FHOD1 Gene

Orthologs for FHOD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FHOD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FHOD1 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia FHOD1 34 35
  • 88.37 (n)
mouse
(Mus musculus)
Mammalia Fhod1 35
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FHOD1 35
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FHOD1 35
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FHOD1 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves FHOD1 34 35
  • 68.26 (n)
-- 35
  • 47 (a)
OneToMany
-- 35
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia FHOD1 35
  • 31 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21717 34
zebrafish
(Danio rerio)
Actinopterygii FHOD1 35
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fhos 34 35
  • 57.79 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004873 34
  • 56.12 (n)
worm
(Caenorhabditis elegans)
Secernentea fhod-1 34 35
  • 48.73 (n)
C46H11.11a 36
  • 35 (a)
C46H11.11b 36
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
ManyToMany
Species where no ortholog for FHOD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FHOD1 Gene

ENSEMBL:
Gene Tree for FHOD1 (if available)
TreeFam:
Gene Tree for FHOD1 (if available)

Paralogs for FHOD1 Gene

Paralogs for FHOD1 Gene

(1) SIMAP similar genes for FHOD1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FHOD1: view

Variants for FHOD1 Gene

Sequence variations from dbSNP and Humsavar for FHOD1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs587777904 untested 67,238,041(-) GTGTG(C/T)CAGCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1000136785 -- 67,243,148(+) TTATA(A/G)GCTGA intron-variant
rs1000245770 -- 67,249,360(+) GCATC(A/G)CTTCT intron-variant, upstream-variant-2KB
rs1000546607 -- 67,241,013(+) GTCCA(G/T)CTCCT intron-variant
rs1000605423 -- 67,246,393(+) GCGGG(A/G)GGCTG intron-variant, upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FHOD1 Gene

Variant ID Type Subtype PubMed ID
nsv457513 CNV loss 19166990
nsv471092 CNV gain 18288195
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv524492 CNV loss 19592680
nsv572905 CNV loss 21841781
nsv572906 CNV loss 21841781
nsv827707 CNV loss 20364138
nsv952044 CNV deletion 24416366

Variation tolerance for FHOD1 Gene

Residual Variation Intolerance Score: 21.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FHOD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FHOD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FHOD1 Gene

Disorders for FHOD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FHOD1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome
  • biedl-bardet syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FHOD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FHOD1

Genetic Association Database (GAD)
FHOD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FHOD1
genes like me logo Genes that share disorders with FHOD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FHOD1 Gene

Publications for FHOD1 Gene

  1. Identification and characterization of a protein containing formin homology (FH1/FH2) domains. (PMID: 10352228) Westendorf J.J. … Hiebert S.W. (Gene 1999) 2 3 4 22 64
  2. The mammalian formin FHOD1 interacts with the ERK MAP kinase pathway. (PMID: 16112087) Boehm M.B. … Koka S. (Biochem. Biophys. Res. Commun. 2005) 2 3 22 64
  3. The diaphanous-related formin FHOD1 associates with ROCK1 and promotes Src-dependent plasma membrane blebbing. (PMID: 18694941) Hannemann S. … Fackler O.T. (J. Biol. Chem. 2008) 3 4 64
  4. The mammalian formin FHOD1 is activated through phosphorylation by ROCK and mediates thrombin-induced stress fibre formation in endothelial cells. (PMID: 18239683) Takeya R. … Sumimoto H. (EMBO J. 2008) 3 22 64
  5. Biochemical characterization of the diaphanous autoregulatory interaction in the formin homology protein FHOD1. (PMID: 16361249) Schonichen A. … Geyer M. (J. Biol. Chem. 2006) 3 4 64

Products for FHOD1 Gene

Sources for FHOD1 Gene

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