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

    Gene ID: 85462, updated on 27-Nov-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, Nov 2024]
    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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    See FHDC1 in Genome Data Viewer
    Location:
    4q31.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (152911339..152979671)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (156234537..156302882)
    RS_2024_09 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 ARF 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 (17) 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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