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    FHOD1 formin homology 2 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 29109, updated on 3-Nov-2024

    Summary

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    Official Symbol
    FHOD1provided by HGNC
    Official Full Name
    formin homology 2 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:17905
    See related
    Ensembl:ENSG00000135723 MIM:606881; AllianceGenome:HGNC:17905
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FHOS
    Summary
    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]
    Expression
    Broad expression in spleen (RPKM 38.0), lung (RPKM 13.5) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FHOD1 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67229389..67247481, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73023673..73041798, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67263292..67281384, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67241386-67241953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67241954-67242520 Neighboring gene F-box and leucine rich repeat protein, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67265259-67265760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67265761-67266260 Neighboring gene transmembrane protein 208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7594 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:67271286-67272485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67275498-67276171 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67276172-67276844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67279559-67280218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67282619-67283120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67283121-67283620 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67287038-67287220 Neighboring gene solute carrier family 9 member A5 Neighboring gene uncharacterized LOC124903701 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67304537-67304794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7600 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67313287-67313468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67318282-67319022 Neighboring gene pleckstrin homology and RhoGEF domain containing G4 Neighboring gene potassium channel tetramerization domain containing 19

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Purification, crystallization and preliminary structural characterization of the N-terminal region of the human formin-homology protein FHOD1. Schulte A, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2007 Oct 1. PMID 17909294, Free PMC Article
    2. FHOD1 is a combined actin filament capping and bundling factor that selectively associates with actin arcs and stress fibers. Schönichen A, et al. J Cell Sci, 2013 Apr 15. PMID 23444374
    3. FHOD1, a formin upregulated in epithelial-mesenchymal transition, participates in cancer cell migration and invasion. Gardberg M, et al. PLoS One, 2013. PMID 24086398, Free PMC Article
    4. FHOD1 regulates stress fiber organization by controlling the dynamics of transverse arcs and dorsal fibers. Schulze N, et al. J Cell Sci, 2014 Apr 1. PMID 24481812
    5. FHOD1 formin is upregulated in melanomas and modifies proliferation and tumor growth. Peippo M, et al. Exp Cell Res, 2017 Jan 1. PMID 27919746

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FHOD1 is upregulated in glioma cells and attenuates ferroptosis of glioma cells by targeting HSPB1 signaling.
      Title: FHOD1 is upregulated in glioma cells and attenuates ferroptosis of glioma cells by targeting HSPB1 signaling.
    2. Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.
      Title: Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.
    3. Multiple formin proteins participate in glioblastoma migration.
      Title: Multiple formin proteins participate in glioblastoma migration.
    4. FHOD1 plays a critical role in the spatial and temporal coordination of cellular stress fiber dynamics without disrupting the formation of stress fiber networks.
      Title: Active FHOD1 promotes the formation of functional actin stress fibers.
    5. The functional integrity of lamin and nesprin-1 is thus required to modulate the FHOD1 activity and the inside-out mechanical coupling that tunes the cell internal stiffness to match that of its soft, physiological-like environment.
      Title: Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1.
    6. results suggest that FHOD1 participates in key cellular processes that are dysregulated in malignancy
      Title: FHOD1 formin is upregulated in melanomas and modifies proliferation and tumor growth.
    7. FHOD1 and INF2 are novel regulators of inter- and intra-structural contractility of podosomes.
      Title: The formins FHOD1 and INF2 regulate inter- and intra-structural contractility of podosomes.
    8. Immunostaining of sections of hearts with both anti-FHOD1 antibodies confirmed the presence of FHOD1 in intercalated discs and double immunostaining demonstrated its colocalisation with cadherin, plakoglobin and shifted localization to connexin43.
      Title: Distribution of formins in cardiac muscle: FHOD1 is a component of intercalated discs and costameres.
    9. Report FODH1 expression in cardiomyocytes and increased expression in dilated cardiommyopathy.
      Title: The formin FHOD1 in cardiomyocytes.
    10. FHOD1 promotes formation of short actin filaments and transiently associates with transverse arcs providing tight temporal and spatial control of the formation and turnover of transverse arcs into mature ventral stress fibers during dynamic cell behavior.
      Title: FHOD1 regulates stress fiber organization by controlling the dynamics of transverse arcs and dorsal fibers.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cortical actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of centrosome localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nuclear migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of stress fiber assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in bleb IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intercalated disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with stress fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FH1/FH2 domain-containing protein 1
    Names
    formin homolog overexpressed in spleen 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029672.1 RefSeqGene

      Range
      5042..23134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318202.2 → NP_001305131.1  FH1/FH2 domain-containing protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK025992, BU689676, CN302043, KJ658417
      UniProtKB/TrEMBL
      A0A068F7M9
      Conserved Domains (2) summary
      pfam02181
      Location:642 → 1014
      FH2; Formin Homology 2 Domain
      pfam03957
      Location:385 → 467
      Jun; Jun-like transcription factor

    2. NM_013241.3 → NP_037373.2  FH1/FH2 domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_037373.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal in-frame segment and is shorter, compared to isoform 1.
      Source sequence(s)
      AA609867, AB041046, BC033084, CN302043
      Consensus CDS
      CCDS10834.1
      UniProtKB/Swiss-Prot
      Q59F76, Q6Y1F2, Q76MS8, Q8N521, Q9Y613
      Related
      ENSP00000258201.4, ENST00000258201.9
      Conserved Domains (2) summary
      pfam02181
      Location:616 → 988
      FH2; Formin Homology 2 Domain
      cl26464
      Location:347 → 538
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      67229389..67247481 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434000.1 → XP_047289956.1  FH1/FH2 domain-containing protein 1 isoform X4

    2. XM_011523044.2 → XP_011521346.1  FH1/FH2 domain-containing protein 1 isoform X3

      Conserved Domains (2) summary
      smart00498
      Location:647 → 1031
      FH2; Formin Homology 2 Domain
      pfam03957
      Location:385 → 467
      Jun; Jun-like transcription factor

    3. XM_047434002.1 → XP_047289958.1  FH1/FH2 domain-containing protein 1 isoform X6

    4. XM_011523043.3 → XP_011521345.1  FH1/FH2 domain-containing protein 1 isoform X1

      Conserved Domains (2) summary
      pfam02181
      Location:632 → 1004
      FH2; Formin Homology 2 Domain
      pfam03957
      Location:375 → 457
      Jun; Jun-like transcription factor

    5. XM_047433999.1 → XP_047289955.1  FH1/FH2 domain-containing protein 1 isoform X2

    6. XM_047434001.1 → XP_047289957.1  FH1/FH2 domain-containing protein 1 isoform X5

    7. XM_047434003.1 → XP_047289959.1  FH1/FH2 domain-containing protein 1 isoform X7

    8. XM_047434004.1 → XP_047289960.1  FH1/FH2 domain-containing protein 1 isoform X8

    9. XM_047434005.1 → XP_047289961.1  FH1/FH2 domain-containing protein 1 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      73023673..73041798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380165.1 → XP_054236140.1  FH1/FH2 domain-containing protein 1 isoform X6

    2. XM_054380163.1 → XP_054236138.1  FH1/FH2 domain-containing protein 1 isoform X4

    3. XM_054380162.1 → XP_054236137.1  FH1/FH2 domain-containing protein 1 isoform X3

    4. XM_054380160.1 → XP_054236135.1  FH1/FH2 domain-containing protein 1 isoform X1

    5. XM_054380161.1 → XP_054236136.1  FH1/FH2 domain-containing protein 1 isoform X2

    6. XM_054380164.1 → XP_054236139.1  FH1/FH2 domain-containing protein 1 isoform X5

    7. XM_054380166.1 → XP_054236141.1  FH1/FH2 domain-containing protein 1 isoform X7

    8. XM_054380167.1 → XP_054236142.1  FH1/FH2 domain-containing protein 1 isoform X8

    9. XM_054380168.1 → XP_054236143.1  FH1/FH2 domain-containing protein 1 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y613.3 GenPept UniProtKB/Swiss-Prot:Q9Y613

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