Free for academic non-profit institutions. Other users need a Commercial license

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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for FHOD1 Gene

Promoters and enhancers for FHOD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J067239 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 663.4 +2.9 2924 10.3 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 SP3 FHOD1 SLC9A5 ATP6V0D1 RN7SKP118 DPEP2NB ELMO3 C16orf86 NAE1 CENPT EDC4
GH16J067389 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.4 -147.3 -147312 11.5 PKNOX1 ARID4B SIN3A ZNF48 GLIS2 ARID2 ZNF143 KLF7 RUNX3 NFKBIZ TPPP3 LRRC36 ATP6V0D1 FHOD1 ZDHHC1 HSD11B2 PLEKHG4 ENSG00000260465 PRMT7 RNU1-123P
GH16J067413 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.2 -167.4 -167422 4 HDGF FOXA2 ARID4B SIN3A ZNF48 ZNF121 ZNF213 ZNF207 ZNF143 KLF13 ZDHHC1 TPPP3 PRMT7 ATP6V0D1 LRRC36 FHOD1 PLEKHG4 LRRC29 TMEM208 HSD11B2
GH16J068021 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 8 -775.4 -775447 3 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 DDX28 GC16M068022 PIR37774 DUS2 EDC4 CENPT CTCF E2F4 ACD ENSG00000263276
GH16J066871 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE 7.8 +373.8 373818 5.1 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 ZNF213 NAE1 E2F4 CTCF CES2 CA7 EDC4 CENPT PLEKHG4 ZDHHC1 ACD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FHOD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FHOD1 gene promoter:
  • E2F-3a
  • PPAR-gamma2
  • E2F
  • E2F-1
  • E2F-2
  • E2F-4
  • E2F-5
  • ER-alpha
  • Sp1
  • Nkx2-5

Genomic Locations for FHOD1 Gene

Genomic Locations for FHOD1 Gene
chr16:67,229,387-67,247,658
(GRCh38/hg38)
Size:
18,272 bases
Orientation:
Minus strand
chr16:67,263,290-67,281,561
(GRCh37/hg19)
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

Gene Families for FHOD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for FHOD1 Gene

Gene Ontology (GO) - Molecular Function for FHOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 15095401
GO:0019904 protein domain specific binding IPI 16361249
GO:0042802 identical protein binding IPI 15642356
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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)

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 by RNA polymerase II IMP 16361249
GO:0051492 regulation of stress fiber assembly IEA,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:

Clone 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, 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(2.7)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with FHOD1: view

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 33
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FHOD1 34 33
  • 88.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fhod1 34
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FHOD1 34
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FHOD1 34
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FHOD1 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves FHOD1 34 33
  • 68.26 (n)
OneToMany
-- 34
  • 47 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia FHOD1 34
  • 31 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21717 33
zebrafish
(Danio rerio)
Actinopterygii FHOD1 34
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fhos 34 33
  • 57.79 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004873 33
  • 56.12 (n)
worm
(Caenorhabditis elegans)
Secernentea fhod-1 34 33
  • 48.73 (n)
OneToMany
C46H11.11a 35
  • 35 (a)
C46H11.11b 35
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FHOD1: view image

Paralogs for FHOD1 Gene

Paralogs for FHOD1 Gene

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

  • FHOD1_HUMAN
  • H3BVE7_HUMAN
  • J3KT53_HUMAN
  • J3KTH7_HUMAN
  • J3QR24_HUMAN
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 Variation AA Info Type
rs587777904 not-provided, not provided 67,238,041(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000136785 -- 67,243,148(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000245770 -- 67,249,360(-) G/A upstream_transcript_variant
rs1000546607 -- 67,241,013(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000605423 -- 67,246,393(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant

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)

Additional Variant Information for FHOD1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FHOD1 Gene

Additional Disease Information for FHOD1

No disorders were found for FHOD1 Gene.

No data available for MalaCards , 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 JJ … Hiebert SW (Gene 1999) 2 3 4 22 58
  2. The mammalian formin FHOD1 interacts with the ERK MAP kinase pathway. (PMID: 16112087) Boehm MB … Koka S (Biochemical and biophysical research communications 2005) 2 3 22 58
  3. The Diaphanous-related Formin FHOD1 associates with ROCK1 and promotes Src-dependent plasma membrane blebbing. (PMID: 18694941) Hannemann S … Fackler OT (The Journal of biological chemistry 2008) 3 4 58
  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 (The EMBO journal 2008) 3 22 58
  5. Biochemical characterization of the diaphanous autoregulatory interaction in the formin homology protein FHOD1. (PMID: 16361249) Schönichen A … Geyer M (The Journal of biological chemistry 2006) 3 4 58

Products for FHOD1 Gene

Sources for FHOD1 Gene

Content
Loading form....