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

Gene ID: 55998, updated on 2-Nov-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

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