Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NXF5 Gene

Aliases for NXF5 Gene

  • Nuclear RNA Export Factor 5 2 3 5
  • TAP-Like Protein 1 3 4
  • TAPL-1 3 4
  • TAPL1 4

External Ids for NXF5 Gene

Previous GeneCards Identifiers for NXF5 Gene

  • GC0XM096378
  • GC0XM098028
  • GC0XM099122
  • GC0XM099858
  • GC0XM100893
  • GC0XM100973
  • GC0XM101087
  • GC0XM090894

Summaries for NXF5 Gene

Entrez Gene Summary for NXF5 Gene

  • 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]

GeneCards Summary for NXF5 Gene

NXF5 (Nuclear RNA Export Factor 5) is a Protein Coding gene. Diseases associated with NXF5 include focal segmental glomerulosclerosis 9 and non-syndromic x-linked intellectual disability. Among its related pathways are RNA transport and mRNA surveillance pathway. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is NXF2.

UniProtKB/Swiss-Prot for NXF5 Gene

  • Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in polarized cytoplasmic transport and localization of mRNA in neurons.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NXF5 Gene

Genomics for NXF5 Gene

Genomic Location for NXF5 Gene

Chromosome:
X
Start:
101,832,112 bp from pter
End:
101,857,577 bp from pter
Size:
25,466 bases
Orientation:
Minus strand

Genomic View for NXF5 Gene

Genes around NXF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NXF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NXF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NXF5 Gene

No data available for Regulatory Elements for NXF5 Gene

Proteins for NXF5 Gene

  • Protein details for NXF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1B4-NXF5_HUMAN
    Recommended name:
    Nuclear RNA export factor 5
    Protein Accession:
    Q9H1B4
    Secondary Accessions:
    • A2RRM0
    • B1AV82
    • B1AV83
    • B1AV84
    • B1AV85
    • Q9H1B0
    • Q9H1B1
    • Q9H1B2
    • Q9H1B3

    Protein attributes for NXF5 Gene

    Size:
    397 amino acids
    Molecular mass:
    45628 Da
    Quaternary structure:
    • Interacts with NXT1 and NXT2.

    Alternative splice isoforms for NXF5 Gene

neXtProt entry for NXF5 Gene

Proteomics data for NXF5 Gene at MOPED

Post-translational modifications for NXF5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NXF5 Gene

No data available for DME Specific Peptides for NXF5 Gene

Domains & Families for NXF5 Gene

Suggested Antigen Peptide Sequences for NXF5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H1B4

UniProtKB/Swiss-Prot:

NXF5_HUMAN :
  • The NTF2 domain heterodimerizes with NXT1 and NXT2.
  • Belongs to the NXF family.
  • Contains 4 LRR (leucine-rich) repeats.
Domain:
  • The NTF2 domain heterodimerizes with NXT1 and NXT2.
  • The RNA-binding domain is a non-canonical RNP-type domain.
  • Contains 1 NTF2 domain.
  • Contains 1 RRM (RNA recognition motif) domain.
Family:
  • Belongs to the NXF family.
Similarity:
  • Contains 4 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with NXF5: view

No data available for Gene Families for NXF5 Gene

Function for NXF5 Gene

Molecular function for NXF5 Gene

UniProtKB/Swiss-Prot Function:
Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in polarized cytoplasmic transport and localization of mRNA in neurons.

Gene Ontology (GO) - Molecular Function for NXF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IEA,IDA 11566096
genes like me logo Genes that share ontologies with NXF5: view

Phenotypes for NXF5 Gene

GenomeRNAi human phenotypes for NXF5:
genes like me logo Genes that share phenotypes with NXF5: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NXF5 Gene

Localization for NXF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NXF5 Gene

Cytoplasm. Nucleus. Note=Mainly localized in the cytoplasm of cells and more particularly in the cell body and neurites of hippocampal neurons. Although nuclear localization is also observed. Not detected at nuclear rim.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NXF5 Gene COMPARTMENTS Subcellular localization image for NXF5 gene
Compartment Confidence
nucleus 5
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for NXF5 Gene

Pathways & Interactions for NXF5 Gene

genes like me logo Genes that share pathways with NXF5: view

Interacting Proteins for NXF5 Gene

Gene Ontology (GO) - Biological Process for NXF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050658 RNA transport IDA 11566096
genes like me logo Genes that share ontologies with NXF5: view

No data available for SIGNOR curated interactions for NXF5 Gene

Drugs & Compounds for NXF5 Gene

No Compound Related Data Available

Transcripts for NXF5 Gene

mRNA/cDNA for NXF5 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for NXF5 Gene

No ASD Table

Relevant External Links for NXF5 Gene

GeneLoc Exon Structure for
NXF5
ECgene alternative splicing isoforms for
NXF5

Expression for NXF5 Gene

mRNA expression in normal human tissues for NXF5 Gene

mRNA differential expression in normal tissues according to GTEx for NXF5 Gene

This gene is overexpressed in Testis (x4.0).

Protein differential expression in normal tissues from HIPED for NXF5 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NXF5 Gene



SOURCE GeneReport for Unigene cluster for NXF5 Gene Hs.307077

genes like me logo Genes that share expression patterns with NXF5: view

Protein tissue co-expression partners for NXF5 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NXF5 Gene

Orthologs for NXF5 Gene

This gene was present in the common ancestor of animals.

Orthologs for NXF5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NXF5 35
  • 99.09 (n)
  • 98.63 (a)
NXF5 36
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 39 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 40 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Nxf2 36
  • 31 (a)
ManyToMany
Nxf7 36
  • 31 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta nxf2 36
  • 9 (a)
ManyToMany
Nxf3 36
  • 14 (a)
ManyToMany
sbr 36
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nxf-1 36
  • 14 (a)
ManyToMany
nxf-2 36
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
OneToMany
Species with no ortholog for NXF5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for NXF5 Gene

ENSEMBL:
Gene Tree for NXF5 (if available)
TreeFam:
Gene Tree for NXF5 (if available)

Paralogs for NXF5 Gene

Paralogs for NXF5 Gene

(4) SIMAP similar genes for NXF5 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for NXF5 Gene

genes like me logo Genes that share paralogs with NXF5: view

Variants for NXF5 Gene

Sequence variations from dbSNP and Humsavar for NXF5 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs2027833 -- 101,832,645(+) AGACA(C/T)GCTGA intron-variant
rs2213367 -- 101,834,745(+) caacc(A/T)cgctc intron-variant
rs5986863 -- 101,842,263(+) TTCTT(C/T)CATTT intron-variant
rs5986868 -- 101,854,957(+) gatgt(G/T)cattt intron-variant
rs6523551 -- 101,844,352(+) TAAAT(A/G)TGGGC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NXF5 Gene

Variant ID Type Subtype PubMed ID
nsv7015 CNV Loss 18451855
esv2740359 CNV Deletion 23290073
esv2740360 CNV Deletion 23290073
esv987918 CNV Deletion 20482838

Variation tolerance for NXF5 Gene

Residual Variation Intolerance Score: 93.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NXF5 Gene

HapMap Linkage Disequilibrium report
NXF5
Human Gene Mutation Database (HGMD)
NXF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NXF5 Gene

Disorders for NXF5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NXF5 Gene - From: GeneTests and DISEASES

Disorder Aliases PubMed IDs
focal segmental glomerulosclerosis 9
  • glomerulosclerosis, focal segmental, 9
non-syndromic x-linked intellectual disability
  • mrx
- elite association - COSMIC cancer census association via MalaCards
Search NXF5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NXF5_HUMAN
  • Note=A chromosomal aberration involving NXF5 has been observed in one patient with a syndromic form of mental retardation and short stature. Pericentric inversion inv(X)(p21.1;q22) that interrupts NXF5. {ECO:0000269 PubMed:11566096}.

Relevant External Links for NXF5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NXF5
genes like me logo Genes that share disorders with NXF5: view

No data available for Genatlas for NXF5 Gene

Publications for NXF5 Gene

  1. NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. (PMID: 11566096) Jun L. … Froyen G. (Curr. Biol. 2001) 2 3 4 23 67
  2. 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. (PMID: 12784308) Frints S.G. … Froyen G. (Am. J. Med. Genet. A 2003) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. (PMID: 23686279) Esposito T. … Griffiths L.R. (Hum. Mol. Genet. 2013) 3
  5. Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients. (PMID: 20096387) Grillo L. … Romano C. (Eur J Med Genet 2010) 23

Products for NXF5 Gene

Sources for NXF5 Gene

Back to Top

Content