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,... See more...

Aliases for NXF5 Gene

Aliases for NXF5 Gene

  • Nuclear RNA Export Factor 5 2 3 4 5
  • TAP-Like Protein 1 3 4
  • TAPL-1 3 4
  • TAPL1 4
  • NXF5 5

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 Progressive Familial Heart Block, Type Ib and Panhypopituitarism, X-Linked. Among its related pathways are Measles and mRNA surveillance pathway. Gene Ontology (GO) annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is NXF2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NXF5 Gene

Genomics for NXF5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NXF5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ101930 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 -74.0 -74024 2.4 CREB1 ZNF629 ZNF692 POLR2A JUND NR2C1 ZNF740 SP1 GTF2F1 YY1 ZMAT1 BEX5 TCEAL6 RF00026-1190 RNU6-345P NXF5
GH0XJ101799 Enhancer 0.6 ENCODE 0.2 +58.0 58024 0.2 CTCF ZNF143 PKNOX1 RAD21 TRIM22 ZBTB40 SMC3 ELF1 ZNF654 ZNF660 ARMCX2 ARMCX6 ARMCX3 ARMCX3-AS1 piR-47086-360 piR-54241-002 NXF5
GH0XJ101780 Promoter 0.3 Ensembl 0.2 +77.1 77076 0.2 ENSG00000178146 GK4P BEX5 piR-37792-075 NXF5 ARMCX2
GH0XJ101692 Enhancer 0.6 Ensembl 0.1 +165.4 165377 0.4 ZNF629 ATF7 ZBTB44 TCF7L2 ZXDB CEBPB OSR2 ATF2 KLF8 HIC1 RF00026-1189 RNU6-587P BEX5 piR-47086-359 ARMCX2 NXF5
GH0XJ101685 Enhancer 0.5 Ensembl ENCODE 0.1 +170.8 170798 1.6 PRDM10 ZNF660 BEX5 LOC100420247 RF00026-1189 RNU6-587P ARMCX2 NXF5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NXF5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NXF5

Genomic Locations for NXF5 Gene

Genomic Locations for NXF5 Gene
chrX:101,832,112-101,857,577
(GRCh38/hg38)
Size:
25,466 bases
Orientation:
Minus strand
chrX:101,087,085-101,112,549
(GRCh37/hg19)
Size:
25,465 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

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.
    Miscellaneous:
    • [Isoform A]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform B]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform C]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform D]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform E]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for NXF5 Gene

neXtProt entry for NXF5 Gene

Post-translational modifications for NXF5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NXF5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NXF5 Gene

Domains & Families for NXF5 Gene

Gene Families for NXF5 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NXF5 Gene

InterPro:
Blocks:
  • Nuclear transport factor 2 (NTF2)
ProtoNet:

Suggested Antigen Peptide Sequences for NXF5 Gene

GenScript: Design optimal peptide antigens:
  • TAP-like protein 1 (NXF5_HUMAN)

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.
Domain:
  • The NTF2 domain heterodimerizes with NXT1 and NXT2.
  • The RNA-binding domain is a non-canonical RNP-type domain.
Family:
  • Belongs to the NXF family.
genes like me logo Genes that share domains with NXF5: view

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.

Phenotypes From GWAS Catalog for NXF5 Gene

Gene Ontology (GO) - Molecular Function for NXF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA,IDA 11566096
GO:0005515 protein binding IPI 11566096
genes like me logo Genes that share ontologies with NXF5: view
genes like me logo Genes that share phenotypes with NXF5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXF5

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NXF5 gene
Compartment Confidence
nucleus 5
mitochondrion 1
cytosol 1
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for NXF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 11566096
GO:0005737 cytoplasm IDA 11566096
GO:0042025 host cell nucleus IEA --
genes like me logo Genes that share ontologies with NXF5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NXF5 Gene

Pathways & Interactions for NXF5 Gene

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

Gene Ontology (GO) - Biological Process for NXF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006406 mRNA export from nucleus IDA 11566096
GO:0007275 multicellular organism development IEP 11566096
GO:0016973 poly(A)+ mRNA export from nucleus IBA 21873635
GO:0050658 RNA transport IDA 11566096
GO:0051028 mRNA transport IEA --
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

5 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXF5

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

No ASD Table

Relevant External Links for NXF5 Gene

GeneLoc Exon Structure for
NXF5

Expression for NXF5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for NXF5 Gene



Protein tissue co-expression partners for NXF5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NXF5

SOURCE GeneReport for Unigene cluster for NXF5 Gene:

Hs.307077

Evidence on tissue expression from TISSUES for NXF5 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with NXF5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 40 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 39 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Nxf7 31
  • 31 (a)
ManyToMany
Nxf2 31
  • 31 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta sbr 31
  • 15 (a)
ManyToMany
Nxf3 31
  • 14 (a)
ManyToMany
nxf2 31
  • 9 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea nxf-2 31
  • 16 (a)
ManyToMany
nxf-1 31
  • 14 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
OneToMany
Species where no ortholog for NXF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NXF5: view image

Paralogs for NXF5 Gene

Paralogs for NXF5 Gene

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

  • NXF5_HUMAN
  • L8E758_HUMAN

Pseudogenes.org Pseudogenes for NXF5 Gene

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

Variants for NXF5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NXF5 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
711146 Benign: not provided 101,837,514(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
721704 Benign: not provided 101,837,616(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
726012 Likely Benign: not provided 101,842,786(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
736878 Likely Benign: not provided 101,841,512(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
769490 Likely Benign: not provided 101,840,510(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NXF5 Gene

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

Variant ID Type Subtype PubMed ID
esv2740359 CNV deletion 23290073
esv2740360 CNV deletion 23290073
esv3574263 CNV loss 25503493
esv987918 CNV deletion 20482838
nsv7015 CNV deletion 18451855

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)

Additional Variant Information for NXF5 Gene

Human Gene Mutation Database (HGMD)
NXF5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NXF5

SNP Genotyping and Copy Number Assay Products

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

Disorders for NXF5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NXF5 Gene - From: DISEASES

- 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}.
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 (Current biology : CB 2001) 2 3 4 23
  2. An unappreciated role for RNA surveillance. (PMID: 14759258) Hillman RT … Brenner SE (Genome biology 2004) 3 4
  3. 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 SG … Froyen G (American journal of medical genetics. Part A 2003) 3 23
  4. A role for Saccharomyces cerevisiae Centrin (Cdc31) in mitochondrial function and biogenesis. (PMID: 30251372) Chen L … Madura K (Molecular microbiology 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for NXF5 Gene

Sources for NXF5 Gene