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    NXF5 nuclear RNA export factor 5 [ Homo sapiens (human) ]

    Gene ID: 55998, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NXF5provided by HGNC
    Official Full Name
    nuclear RNA export factor 5provided by HGNC
    Primary source
    HGNC:HGNC:8075
    See related
    Ensembl:ENSG00000290798 MIM:300319; AllianceGenome:HGNC:8075
    Gene type
    pseudo
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene is one member of a family of nuclear RNA export factor genes. Most transcript variants are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq, Sep 2022]
    Expression
    Restricted expression toward testis (RPKM 1.9) See more
    Orthologs
    all
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    Genomic context

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    See NXF5 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101832112..101857577, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (100276716..100302189, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (101087085..101112549, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 519 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:101012992-101013557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20917 Neighboring gene glycerol kinase 4 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:101160927-101161428 Neighboring gene zinc finger matrin-type 1 Neighboring gene RNA, U6 small nuclear 345, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:101186779-101187279 Neighboring gene H2B histone pseudogene 8

    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. Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. Frints SG, et al. Am J Med Genet A, 2003 Jun 15. PMID 12784308
    2. Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. Esposito T, et al. Hum Mol Genet, 2013 Sep 15. PMID 23686279
    3. Formation of a Tap/NXF1 homotypic complex is mediated through the amino-terminal domain of Tap and enhances interaction with nucleoporins. Matzat LH, et al. Mol Biol Cell, 2008 Jan. PMID 17978099, Free PMC Article
    4. NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. Jun L, et al. Curr Biol, 2001 Sep 18. PMID 11566096
    5. TAP (NXF1) belongs to a multigene family of putative RNA export factors with a conserved modular architecture. Herold A, et al. Mol Cell Biol, 2000 Dec. PMID 11073998, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. study of an Australian pedigree in which focal segmental glomerulosclerosis co-segregates with progressive heart block; study found 2 mutations NXF5-R113W and ALG13-T141L segregated with disease phenotype; predicted the NXF5 R113W mutation to be deleterious; cellular studies support a role in the stability and localization of the protein suggesting a causative role
      Title: Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
    2. Mutations of the NXF5 gene is associated with X-linked mental retardation
      Title: Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2012-05-17)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2012-05-17)

    ClinGen Genome Curation PagePubMed

    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

    Other Names

    • TAP-like protein 1
    • TAPL-1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA export from nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in poly(A)+ mRNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear RNA export factor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    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.

    RNA

    1. NR_028089.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes additional exons and uses an alternate splice site in the 3' coding region resulting in a frameshift and early stop codon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ277654
      Related
      ENST00000263032.5

    2. NR_159736.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) includes additional exons and uses an alternate splice site in the 3' coding region resulting in a frameshift and early stop codon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ277658, AL672207
      Related
      ENST00000332614.6

    3. NR_159737.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes additional exons and uses an alternate splice site in the 3' coding region resulting in a frameshift and early stop codon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ277657
      Related
      ENST00000361330.5

    4. NR_159738.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes additional exons and uses an alternate splice site in the 3' coding region resulting in a frameshift and early stop codon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ277656
      Related
      ENST00000493509.5

    5. NR_159739.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) includes additional exons and uses an alternate splice site in the 3' coding region resulting in a frameshift and early stop codon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ277655
      Related
      ENST00000372803.5

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      101832112..101857577 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      100276716..100302189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_009851.2: Suppressed sequence

      Description
      NG_009851.2: This RefSeq was removed by NCBI staff.

    2. NM_032946.2: Suppressed sequence

      Description
      NM_032946.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    3. NM_033152.1: Suppressed sequence

      Description
      NM_033152.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    4. NM_033153.1: Suppressed sequence

      Description
      NM_033153.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    5. NM_033154.1: Suppressed sequence

      Description
      NM_033154.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    6. NM_033155.1: Suppressed sequence

      Description
      NM_033155.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1B4.1 GenPept UniProtKB/Swiss-Prot:Q9H1B4

    Gene LinkOut

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

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