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    DNAH10 dynein axonemal heavy chain 10 [ Homo sapiens (human) ]

    Gene ID: 196385, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DNAH10provided by HGNC
    Official Full Name
    dynein axonemal heavy chain 10provided by HGNC
    Primary source
    HGNC:HGNC:2941
    See related
    Ensembl:ENSG00000197653 MIM:605884; AllianceGenome:HGNC:2941
    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
    SPGF56
    Summary
    Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in testis (RPKM 3.1), bone marrow (RPKM 0.9) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAH10 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    80
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123762301..123935720)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123761225..123937157)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124246848..124420267)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7274 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124184156-124184331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5049 Neighboring gene uncharacterized LOC105370042 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124206184-124206364 Neighboring gene tectonic family member 2 Neighboring gene ATPase H+ transporting V0 subunit a2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124232793-124233992 Neighboring gene ribosomal protein L27 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5050 Neighboring gene uncharacterized LOC105370044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124383373-124383873 Neighboring gene Sharpr-MPRA regulatory region 5794 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124402328-124403527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124401655-124402156 Neighboring gene uncharacterized LOC124903043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124422596-124423096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124423097-124423597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124438925-124439426 Neighboring gene dynein axonemal heavy chain 10 opposite strand Neighboring gene NANOG hESC enhancer GRCh37_chr12:124453330-124453831 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124456125-124456862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5053 Neighboring gene ZNF664-RFLNA readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124456863-124457600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7276 Neighboring gene coiled-coil domain containing 92 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7279 Neighboring gene zinc finger protein 664 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:124556312-124557118 Neighboring gene NANOG hESC enhancer GRCh37_chr12:124594949-124595450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124600014-124600560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124601652-124602196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124601106-124601651 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:124608857-124609358 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:124624781-124625523 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124625524-124626265 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:124630091-124630857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124666563-124667068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124672143-124672663 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124672664-124673183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124673184-124673704 Neighboring gene Sharpr-MPRA regulatory region 13038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124725860-124726762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124786919-124787420 Neighboring gene refilin A

    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. Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial - reflections on psoriatic inflammation. Lagus H, et al. Sci Rep, 2019 Dec 13. PMID 31836722, Free PMC Article
    2. Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility. Li K, et al. J Assist Reprod Genet, 2022 Jan. PMID 34657236, Free PMC Article
    3. DNAH10 mutation correlates with cisplatin sensitivity and tumor mutation burden in small-cell lung cancer. Li M, et al. Aging (Albany NY), 2020 Jan 20. PMID 31959735, Free PMC Article
    4. Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice. Wang R, et al. Front Med, 2023 Oct. PMID 37314648
    5. Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes. Pazour GJ, et al. J Med Genet, 2006 Jan. PMID 15937072, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.
      Title: Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.
    2. Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility.
      Title: Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility.
    3. Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.
      Title: Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.
    4. DNAH10 mutation correlates with cisplatin sensitivity and tumor mutation burden in small-cell lung cancer.
      Title: DNAH10 mutation correlates with cisplatin sensitivity and tumor mutation burden in small-cell lung cancer.
    5. Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial - reflections on psoriatic inflammation.
      Title: Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial - reflections on psoriatic inflammation.
    6. Mutations in the genes glucokinase regulatory protein (GCKR), RNase L (RNASEL), leukocyte immunoglobulin-like receptor 3 (LILRA3), and dynein axonemal heavy chain 10 (DNAH10) segregated with elevated HDLc levels in families, while no mutations associated with low HDLc.
      Title: Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
    7. Mutation in DNAH10 gene is associated with insulin-resistant cardiometabolic disease.
      Title: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.
    8. This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans.
      Title: Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.
    9. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
    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

    Associated conditions

    Description Tests
    Spermatogenic failure 56
    MedGen: C5561978 OMIM: 619515 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
    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

    • FLJ38262, FLJ43486, FLJ43808, KIAA2017

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables minus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium movement involved in cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in 9+2 motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dynein axonemal heavy chain 10
    Names
    axonemal beta dynein heavy chain 10
    ciliary dynein heavy chain 10
    dynein heavy chain 10, axonemal
    dynein, axonemal, heavy polypeptide 10

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001372106.1 → NP_001359035.1  dynein axonemal heavy chain 10 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AB290168, AC079315, AC117503, AI333321, AK125475, BC144575, DV080259, DV080609, HY041008
      Consensus CDS
      CCDS91767.1
      UniProtKB/TrEMBL
      A0A1C7CYW8, A0A669KB38
      Related
      ENSP00000501095.1, ENST00000673944.1
      Conserved Domains (6) summary
      COG5245
      Location:1274 → 4265
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam08385
      Location:306 → 876
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1372 → 1777
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1912 → 2238
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam12780
      Location:2891 → 3150
      AAA_8; P-loop containing dynein motor region D4
      pfam18199
      Location:4288 → 4586
      Dynein_C; Dynein heavy chain C-terminal domain

    2. NM_207437.3 → NP_997320.2  dynein axonemal heavy chain 10 isoform 1

      See identical proteins and their annotated locations for NP_997320.2

      Status: VALIDATED

      Source sequence(s)
      AB290168, AC079315, AC117503, AL046294, DV080260, DV080609
      Consensus CDS
      CCDS9255.2
      UniProtKB/Swiss-Prot
      C9JMF5, O95495, Q6ZUC9, Q6ZUP6, Q8IVF4, Q8N761
      UniProtKB/TrEMBL
      A0A1C7CYW8
      Related
      ENSP00000489675.1, ENST00000638045.1
      Conserved Domains (6) summary
      COG5245
      Location:1156 → 4147
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam08385
      Location:245 → 758
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1254 → 1659
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1794 → 2120
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam12780
      Location:2773 → 3032
      AAA_8; P-loop containing dynein motor region D4
      pfam18199
      Location:4170 → 4468
      Dynein_C; Dynein heavy chain C-terminal 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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      123762301..123935720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018960.2 → XP_016874449.1  dynein axonemal heavy chain 10 isoform X4

      UniProtKB/TrEMBL
      A0A1C7CYW8

    2. XM_011538016.3 → XP_011536318.1  dynein axonemal heavy chain 10 isoform X3

      UniProtKB/TrEMBL
      A0A1C7CYW8
      Conserved Domains (6) summary
      pfam03028
      Location:3819 → 4515
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:304 → 876
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1375 → 1778
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:3100 → 3433
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:3462 → 3678
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1912 → 2140
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_011538014.3 → XP_011536316.1  dynein axonemal heavy chain 10 isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYW8
      Conserved Domains (6) summary
      pfam03028
      Location:3829 → 4525
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:304 → 876
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1375 → 1778
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:3110 → 3443
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:3472 → 3688
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1912 → 2140
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. XM_011538015.4 → XP_011536317.1  dynein axonemal heavy chain 10 isoform X2

      UniProtKB/TrEMBL
      A0A1C7CYW8
      Conserved Domains (6) summary
      pfam03028
      Location:3819 → 4515
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:304 → 876
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1375 → 1778
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:3100 → 3433
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:3462 → 3678
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:2821 → 3088
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. XM_011538017.4 → XP_011536319.1  dynein axonemal heavy chain 10 isoform X6

      UniProtKB/TrEMBL
      A0A1C7CYW8
      Conserved Domains (6) summary
      pfam03028
      Location:3770 → 4466
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:304 → 876
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1375 → 1778
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:3051 → 3384
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:3413 → 3629
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:2772 → 3039
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    6. XM_017018961.2 → XP_016874450.1  dynein axonemal heavy chain 10 isoform X5

      UniProtKB/TrEMBL
      A0A1C7CYW8

    7. XM_047428477.1 → XP_047284433.1  dynein axonemal heavy chain 10 isoform X9

    8. XM_011538019.3 → XP_011536321.1  dynein axonemal heavy chain 10 isoform X7

      UniProtKB/TrEMBL
      B0I1S1
      Conserved Domains (5) summary
      pfam03028
      Location:2829 → 3525
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08393
      Location:322 → 725
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2110 → 2443
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:2472 → 2688
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:859 → 1087
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    9. XM_017018962.2 → XP_016874451.1  dynein axonemal heavy chain 10 isoform X8

      UniProtKB/TrEMBL
      B0I1S1

    10. XM_047428478.1 → XP_047284434.1  dynein axonemal heavy chain 10 isoform X10

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187590.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      177..109264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      123761225..123937157
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371369.1 → XP_054227344.1  dynein axonemal heavy chain 10 isoform X4

    2. XM_054371368.1 → XP_054227343.1  dynein axonemal heavy chain 10 isoform X3

    3. XM_054371366.1 → XP_054227341.1  dynein axonemal heavy chain 10 isoform X1

    4. XM_054371367.1 → XP_054227342.1  dynein axonemal heavy chain 10 isoform X2

    5. XM_054371371.1 → XP_054227346.1  dynein axonemal heavy chain 10 isoform X6

    6. XM_054371370.1 → XP_054227345.1  dynein axonemal heavy chain 10 isoform X5

    7. XM_054371374.1 → XP_054227349.1  dynein axonemal heavy chain 10 isoform X9

    8. XM_054371372.1 → XP_054227347.1  dynein axonemal heavy chain 10 isoform X7

    9. XM_054371373.1 → XP_054227348.1  dynein axonemal heavy chain 10 isoform X8

    10. XM_054371375.1 → XP_054227350.1  dynein axonemal heavy chain 10 isoform X10

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_207438.1: Suppressed sequence

      Description
      NM_207438.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVF4.4 GenPept UniProtKB/Swiss-Prot:Q8IVF4

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