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... See more...

Aliases for FHOD1 Gene

Aliases for FHOD1 Gene

  • Formin Homology 2 Domain Containing 1 2 3 5
  • FHOS 2 3 4
  • Formin Homolog Overexpressed In Spleen 1 3 4
  • FH1/FH2 Domain-Containing Protein 1 3 4
  • Formin Homology 2 Domain-Containing Protein 1 4
  • FHOD1 5
  • FHOS1 4

External Ids for FHOD1 Gene

Previous GeneCards Identifiers for FHOD1 Gene

  • GC16M057957
  • GC16M067641
  • GC16M066998
  • GC16M067039
  • GC16M065820
  • GC16M067263
  • 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 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 and Malignant Breast Melanoma. Among its related pathways are Salmonella infection (KEGG). 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 Summary 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 , Rfam classification and piRNA Summary for FHOD1 Gene

Genomics for FHOD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FHOD1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FHOD1

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

Genomic Locations for FHOD1 Gene

Latest Assembly
chr16:67,229,387-67,247,481
(GRCh38/hg38)
Size:
18,095 bases
Orientation:
Minus strand

Previous Assembly
chr16:67,263,292-67,281,384
(GRCh37/hg19 by Entrez Gene)
Size:
18,093 bases
Orientation:
Minus strand

chr16:67,263,290-67,281,561
(GRCh37/hg19 by Ensembl)
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

Antibodies for research

  • Abcam antibodies for FHOD1

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

InterPro:
Blocks:
  • Actin-binding FH2
ProtoNet:

Suggested Antigen Peptide Sequences for FHOD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55372, highly similar to FH1/FH2 domain-containing protein (B4DVN5_HUMAN)
  • Formin homology 2 domain-containing protein 1 (FHOD1_HUMAN)

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: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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FHOD1

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 2
extracellular 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 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:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with FHOD1: view

Pathways & Interactions for FHOD1 Gene

PathCards logo

SuperPathways for FHOD1 Gene

SuperPathway Contained pathways
1 Salmonella infection (KEGG)
genes like me logo Genes that share pathways with FHOD1: view

Pathways by source for FHOD1 Gene

1 KEGG pathway for FHOD1 Gene

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:0030866 cortical actin cytoskeleton organization IBA 21873635
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
genes like me logo Genes that share ontologies with FHOD1: view

Drugs & Compounds for FHOD1 Gene

No Compound Related Data Available

Transcripts for FHOD1 Gene

mRNA/cDNA for FHOD1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FHOD1

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

Expression for FHOD1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Spleen (Hematopoietic System)

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Liver(4.2)
  • Muscle(3.1)
  • Heart(2.5)
  • Skin(2.2)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with FHOD1: view

Primer products for research

No data available for 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 30 31
  • 99.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FHOD1 30 31
  • 88.37 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fhod1 31
  • 83 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia FHOD1 31
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FHOD1 31
  • 54 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FHOD1 31
  • 45 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FHOD1 30 31
  • 68.26 (n)
OneToMany
-- 31
  • 47 (a)
OneToMany
-- 31
  • 46 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia FHOD1 31
  • 31 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21717 30
Zebrafish
(Danio rerio)
Actinopterygii FHOD1 31
  • 37 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Fhos 30 31
  • 57.79 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004873 30
  • 56.12 (n)
Worm
(Caenorhabditis elegans)
Secernentea fhod-1 30 31
  • 48.73 (n)
OneToMany
C46H11.11a 32
  • 35 (a)
C46H11.11b 32
  • 35 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
ManyToMany
Species where no ortholog for FHOD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

(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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FHOD1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs587777904 Not Provided: not provided 67,238,041(-) G/A
NM_013241.3(FHOD1):c.635C>T (p.Ala212Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FHOD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for FHOD1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FHOD1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cerebral amyloid angiopathy, itm2b-related, 2
  • dementia, familial danish; fdd
malignant breast melanoma
  • breast melanoma
bardet-biedl syndrome
  • bbs
- elite association - COSMIC cancer census association via MalaCards
Search FHOD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FHOD1

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 JJ … Hiebert SW (Gene 1999) 2 3 4 23
  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 23
  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
  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 23
  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

Products for FHOD1 Gene

Sources for FHOD1 Gene