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

Summary

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

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Multiple formin proteins participate in glioblastoma migration.
Title: Multiple formin proteins participate in glioblastoma migration.
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.
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.
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.
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.
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.
Report FODH1 expression in cardiomyocytes and increased expression in dilated cardiommyopathy.
Title: The formin FHOD1 in cardiomyocytes.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102455 (e-PCR)
- UniSTS:96789

RH79964 (e-PCR)
- UniSTS:86400

MARC_7229-7230:996687665:1 (e-PCR)
- UniSTS:269740

RH80137 (e-PCR)
- UniSTS:86268

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 more info	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

NG_029672.1 RefSeqGene

Range

5042..23134

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

67229389..67247481 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047434000.1 → XP_047289956.1 FH1/FH2 domain-containing protein 1 isoform X4
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
XM_047434002.1 → XP_047289958.1 FH1/FH2 domain-containing protein 1 isoform X6
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
XM_047433999.1 → XP_047289955.1 FH1/FH2 domain-containing protein 1 isoform X2
XM_047434001.1 → XP_047289957.1 FH1/FH2 domain-containing protein 1 isoform X5
XM_047434003.1 → XP_047289959.1 FH1/FH2 domain-containing protein 1 isoform X7
XM_047434004.1 → XP_047289960.1 FH1/FH2 domain-containing protein 1 isoform X8
XM_047434005.1 → XP_047289961.1 FH1/FH2 domain-containing protein 1 isoform X9