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

Gene ID: 29109, updated on 4-Jul-2021

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
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

See FHOD1 in Genome Data Viewer
Location:
16q22.1
Exon count:
26
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (67229389..67247481, complement)
105.20201022 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 leucine rich repeat containing 29 Neighboring gene transmembrane protein 208 Neighboring gene solute carrier family 9 member A5 Neighboring gene pleckstrin homology and RhoGEF domain containing G4 Neighboring gene potassium channel tetramerization domain containing 19

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein self-association 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
PubMed 
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001318202.2NP_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:6421014
    FH2; Formin Homology 2 Domain
    pfam03957
    Location:385467
    Jun; Jun-like transcription factor
  2. NM_013241.3NP_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
    Q9Y613
    Related
    ENSP00000258201.4, ENST00000258201.9
    Conserved Domains (2) summary
    pfam02181
    Location:616988
    FH2; Formin Homology 2 Domain
    cl26464
    Location:347538
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011523044.1XP_011521346.1  FH1/FH2 domain-containing protein 1 isoform X2

    Conserved Domains (2) summary
    smart00498
    Location:6471031
    FH2; Formin Homology 2 Domain
    pfam03957
    Location:385467
    Jun; Jun-like transcription factor
  2. XM_011523043.2XP_011521345.1  FH1/FH2 domain-containing protein 1 isoform X1

    Conserved Domains (2) summary
    pfam02181
    Location:6321004
    FH2; Formin Homology 2 Domain
    pfam03957
    Location:375457
    Jun; Jun-like transcription factor
  3. XM_011523045.2XP_011521347.1  FH1/FH2 domain-containing protein 1 isoform X3

    Conserved Domains (2) summary
    pfam02181
    Location:549921
    FH2; Formin Homology 2 Domain
    pfam03957
    Location:292374
    Jun; Jun-like transcription factor
  4. XM_006721180.1XP_006721243.1  FH1/FH2 domain-containing protein 1 isoform X4

    Conserved Domains (1) summary
    pfam02181
    Location:147519
    FH2; Formin Homology 2 Domain

RNA

  1. XR_933285.1 RNA Sequence

  2. XR_001751895.1 RNA Sequence

  3. XR_933286.1 RNA Sequence

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