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FHDC1 FH2 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 85462, updated on 5-Mar-2024

Summary

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Official Symbol
FHDC1provided by HGNC
Official Full Name
FH2 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:29363
See related
Ensembl:ENSG00000137460 MIM:620268; AllianceGenome:HGNC:29363
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
INF1
Summary
Predicted to enable actin binding activity and microtubule binding activity. Involved in Golgi ribbon formation; cilium assembly; and stress fiber assembly. Located in cilium and microtubule. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 7.7), prostate (RPKM 5.1) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
4q31.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (152911339..152979671)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (156234537..156302882)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (153857475..153900823)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22047 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:153729642-153730323 Neighboring gene tigger transposable element derived 4 Neighboring gene ADP ribosylation factor interacting protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:153755875-153756375 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:153764305-153765504 Neighboring gene NSA2 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:153768357-153768857 Neighboring gene Sharpr-MPRA regulatory region 8200 Neighboring gene Sharpr-MPRA regulatory region 1071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15754 Neighboring gene Sharpr-MPRA regulatory region 8192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:153877563-153878382 Neighboring gene uncharacterized LOC729870 Neighboring gene family with sequence similarity 192, member A pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:153892920-153894119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:153894208-153894728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:153894729-153895248 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:153912200-153913399 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:153913429-153913928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:153942327-153943122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:153944769-153945310 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:153949611-153950259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:154028483-154028983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:154033423-154033922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:154057659-154058160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15755 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:154127146-154128051 Neighboring gene tripartite motif containing 2 Neighboring gene NANOG hESC enhancer GRCh37_chr4:154130352-154131177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:154143059-154143560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:154159939-154160440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:154160441-154160940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:154162218-154162718 Neighboring gene uncharacterized LOC105377496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22050 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:154178381-154179026 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:154180767-154181283 Neighboring gene RNA, U6 small nuclear 1196, pseudogene

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
  • 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. LncRNA LINC00665 Promotes Ovarian Cancer Cell Proliferation and Inhibits Apoptosis via Targeting miR-181a-5p/FHDC. Wang S, et al. Appl Biochem Biotechnol, 2022 Sep. PMID 35524876
  2. Identification and characterization of human FHDC1, mouse Fhdc1 and zebrafish fhdc1 genes in silico. Katoh M, et al. Int J Mol Med, 2004 Jun. PMID 15138637
  3. Actin- and microtubule-dependent regulation of Golgi morphology by FHDC1. Copeland SJ, et al. Mol Biol Cell, 2016 Jan 15. PMID 26564798, Free PMC Article
  4. INF1 is a novel microtubule-associated formin. Young KG, et al. Mol Biol Cell, 2008 Dec. PMID 18815276, Free PMC Article
  5. Actin-dependent regulation of cilia length by the inverted formin FHDC1. Copeland SJ, et al. Mol Biol Cell, 2018 Jul 1. PMID 29742020, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LncRNA LINC00665 Promotes Ovarian Cancer Cell Proliferation and Inhibits Apoptosis via Targeting miR-181a-5p/FHDC.
    Title: LncRNA LINC00665 Promotes Ovarian Cancer Cell Proliferation and Inhibits Apoptosis via Targeting miR-181a-5p/FHDC.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1727

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in Golgi ribbon formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in stress fiber assembly IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in actin filament IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic microtubule ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in microtubule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
FH2 domain-containing protein 1
Names
inverted formin-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.

mRNA and Protein(s)

  1. NM_001371116.1 → NP_001358045.1  FH2 domain-containing protein 1

    Status: VALIDATED

    Source sequence(s)
    AC093599
    Consensus CDS
    CCDS34081.1
    UniProtKB/Swiss-Prot
    Q9C0D6
    Related
    ENSP00000427567.1, ENST00000511601.6
    Conserved Domains (2) summary
    PHA03307
    Location:730 → 1136
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam02181
    Location:93 → 457
    FH2; Formin Homology 2 Domain

  2. NM_033393.3 → NP_203751.2  FH2 domain-containing protein 1

    See identical proteins and their annotated locations for NP_203751.2

    Status: VALIDATED

    Source sequence(s)
    AC093599
    Consensus CDS
    CCDS34081.1
    UniProtKB/Swiss-Prot
    Q9C0D6
    Conserved Domains (2) summary
    PHA03307
    Location:730 → 1136
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam02181
    Location:93 → 457
    FH2; Formin Homology 2 Domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    152911339..152979671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416336.1 → XP_047272292.1  FH2 domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9C0D6

  2. XM_011532389.2 → XP_011530691.1  FH2 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011530691.1

    UniProtKB/Swiss-Prot
    Q9C0D6
    Conserved Domains (2) summary
    PHA03307
    Location:730 → 1136
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam02181
    Location:93 → 457
    FH2; Formin Homology 2 Domain

  3. XM_047416337.1 → XP_047272293.1  FH2 domain-containing protein 1 isoform X2

  4. XM_047416335.1 → XP_047272291.1  FH2 domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9C0D6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    156234537..156302882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351136.1 → XP_054207111.1  FH2 domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9C0D6

  2. XM_054351134.1 → XP_054207109.1  FH2 domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9C0D6

  3. XM_054351137.1 → XP_054207112.1  FH2 domain-containing protein 1 isoform X2

  4. XM_054351135.1 → XP_054207110.1  FH2 domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9C0D6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0D6.2 GenPept UniProtKB/Swiss-Prot:Q9C0D6

Gene LinkOut

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