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

Gene ID: 55998, updated on 25-Jan-2022

Summary

Official Symbol
NXF5provided by HGNC
Official Full Name
nuclear RNA export factor 5provided by HGNC
Primary source
HGNC:HGNC:8075
See related
Ensembl:ENSG00000126952 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. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq, Jul 2009]
Expression
Restricted expression toward testis (RPKM 1.9) See more
Orthologs
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Genomic context

See NXF5 in Genome Data Viewer
Location:
Xq22.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (101832112..101857577, complement)
105.20201022 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 glycerol kinase 4 pseudogene Neighboring gene zinc finger matrin-type 1 Neighboring gene RNA, U6 small nuclear 345, pseudogene Neighboring gene H2B histone pseudogene 8

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 poly(A)+ mRNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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.

Genomic

  1. NG_009851.1 RefSeqGene

    Range
    5001..30465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_006652812.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
  2. NM_033152.1: Suppressed sequence

    Description
    NM_033152.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_033153.1: Suppressed sequence

    Description
    NM_033153.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  4. NM_033154.1: Suppressed sequence

    Description
    NM_033154.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  5. NM_033155.1: Suppressed sequence

    Description
    NM_033155.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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