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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
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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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