NXF1 Gene (Protein Coding)

Nuclear RNA Export Factor 1

GC11M063894
GIFtS:
42
This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions wi... See more...

Aliases for NXF1 Gene

Aliases for NXF1 Gene

  • Nuclear RNA Export Factor 1 2 3 4 5
  • TAP 2 3 4
  • Tip Associating Protein 2 3
  • MRNA Export Factor TAP 3 4
  • Tip-Associated Protein 3 4
  • Tip-Associating Protein 4
  • DKFZp667O0311 2
  • MEX67 3
  • Mex67 2
  • NXF1 5

External Ids for NXF1 Gene

Previous GeneCards Identifiers for NXF1 Gene

  • GC11M065072
  • GC11M064135
  • GC11M062810
  • GC11M062335
  • GC11M062316
  • GC11M062559
  • GC11M058888
  • GC11M062793
  • GC11M062843
  • GC11M062962
  • GC11M063018
  • GC11M063082
  • GC11M062796
  • GC11M062828
  • GC11M062919
  • GC11M063444

Summaries for NXF1 Gene

Entrez Gene Summary for NXF1 Gene

  • This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for NXF1 Gene

NXF1 (Nuclear RNA Export Factor 1) is a Protein Coding gene. Diseases associated with NXF1 include Influenza and Lethal Congenital Contracture Syndrome 1. Among its related pathways are mRNA Splicing - Major Pathway and mRNA surveillance pathway. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is NXF2B.

UniProtKB/Swiss-Prot Summary for NXF1 Gene

  • Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway) (PubMed:10924507). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex (PubMed:18364396, PubMed:19165146, PubMed:9660949). ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export (PubMed:18364396, PubMed:19165146, PubMed:9660949). Also involved in nuclear export of m6A-containing mRNAs: interaction between SRSF3 and YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export (PubMed:28984244).

Gene Wiki entry for NXF1 Gene

Additional gene information for NXF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NXF1 Gene

Genomics for NXF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NXF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NXF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NXF1

Top Transcription factor binding sites by QIAGEN in the NXF1 gene promoter:
  • AML1a
  • ARP-1
  • Bach2
  • GATA-2
  • HNF-1
  • HNF-1A
  • NRSF form 1
  • NRSF form 2

Genomic Locations for NXF1 Gene

Latest Assembly
chr11:62,792,123-62,806,302
(GRCh38/hg38)
Size:
14,180 bases
Orientation:
Minus strand

Previous Assembly
chr11:62,559,602-62,572,912
(GRCh37/hg19 by Entrez Gene)
Size:
13,311 bases
Orientation:
Minus strand

chr11:62,559,595-62,573,774
(GRCh37/hg19 by Ensembl)
Size:
14,180 bases
Orientation:
Minus strand

Genomic View for NXF1 Gene

Genes around NXF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NXF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NXF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NXF1 Gene

Proteins for NXF1 Gene

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  3. Assay products for research

  • Protein details for NXF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBU9-NXF1_HUMAN
    Recommended name:
    Nuclear RNA export factor 1
    Protein Accession:
    Q9UBU9
    Secondary Accessions:
    • B4E269
    • Q99799
    • Q9UQL2

    Protein attributes for NXF1 Gene

    Size:
    619 amino acids
    Molecular mass:
    70182 Da
    Quaternary structure:
    • Heterodimer (via NTF2 domain) with NXT1 (PubMed:11583626). The formation of NXF1-NXT1 heterodimers is required for the NXF1-mediated nuclear mRNA export (PubMed:11583626). Forms a complex with RANBP2/NUP358, NXT1 and RANGAP1 (PubMed:14729961). Associates with the exon junction complex (EJC) and with the transcription/export (TREX) complex (PubMed:11707413, PubMed:22893130). Found in a mRNA complex with UPF3A and UPF3B (PubMed:11546873). Found in a post-splicing complex with RBM8A, UPF1, UPF2, UPF3A, UPF3B and RNPS1 (PubMed:11546874). Interacts (via N-terminus) with DHX9 (via N-terminus); this interaction is direct and negatively regulates NXF1-mediated nuclear export of constitutive transport element (CTE)-containing cellular mRNAs (PubMed:10924507). Interacts with ALYREF/THOC4 (PubMed:11707413, PubMed:14730019, PubMed:19165146, PubMed:23299939). Interacts with FYTTD1/UIF (PubMed:19836239). Interacts with EIF4A3 (PubMed:14730019). Interacts with NUP42 (PubMed:10228171). Interacts with THOC5 (PubMed:19165146, PubMed:23299939). Interacts with CHTOP (PubMed:23299939, PubMed:23826332). Interacts with FRG1 (via N-terminus) (PubMed:21699900). Interacts with LUZP4 (PubMed:25662211). Interacts with FMR1; the interaction occurs in a mRNA-dependent and polyribosomes-independent manner in the nucleus (PubMed:18936162). Interacts with CPSF6 (via N-terminus); this interaction is direct (PubMed:19864460). Interacts with RBM15 (PubMed:17001072). Interacts with RBM15B (PubMed:19586903). Interacts with MCM3AP isoform GANP; this interaction is not mediated by RNA (PubMed:20005110). Interacts with DDX3X (via C-terminus); this interaction may be partly involved in DDX3X nuclear export and in NXF1 localization to stress granules (PubMed:18596238). Interacts with PABPC1/PABP1 (PubMed:18596238).
    • (Microbial infection) Interacts with Saimiriine herpesvirus 2 TIP protein.
    • (Microbial infection) Interacts with human herpes virus 1 (HHV-1) ICP27 protein; this interaction allows efficient export of HHV-1 early and late transcripts.
    • (Microbial infection) Interacts (via RNA-binding domain) with Ebolavirus nucleoprotein; this interaction recruits NXF1 to the inclusion bodies were viral replication takes place, probably to export viral mRNA-NXF1 complexes from these sites.

    Three dimensional structures from OCA and Proteopedia for NXF1 Gene

    Alternative splice isoforms for NXF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NXF1 Gene

Protein Expression for NXF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NXF1 Gene

  • Ubiquitination at Lys117, Lys173, and Lys230
  • Modification sites at PhosphoSitePlus

Other Protein References for NXF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NXF1 Gene

Domains & Families for NXF1 Gene

Gene Families for NXF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for NXF1 Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
  • Leucine-rich-associated
  • Nuclear transport factor 2 (NTF2)
  • TAP C-terminal domain
ProtoNet:

Suggested Antigen Peptide Sequences for NXF1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57456, highly similar to Nuclear RNA export factor 1 (B4E3J0_HUMAN)
  • mRNA export factor TAP (NXF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBU9

UniProtKB/Swiss-Prot:

NXF1_HUMAN :
  • The minimal CTE binding domain consists of an RNP-type RNA binding domain (RBD) and leucine-rich repeats.
  • Belongs to the NXF family.
Domain:
  • The minimal CTE binding domain consists of an RNP-type RNA binding domain (RBD) and leucine-rich repeats.
  • The nucleoporin binding domain consists of a NTF2 domain (also called NTF2-like domain) and a TAP-C domain (also called UBA-like domain). It has 2 nucleoporin-FG-repeats binding sites (one in the NTF2 and the other in the TAP-C domain) which contribute to nucleoporin association and act synergistically to export cellular mRNAs.
  • The NTF2 domain is functional only in the presence of NXT1 and is essential for the export of mRNA from the nucleus. It inhibits RNA binding activity through an intramolecular interaction with the N-terminal RNA binding domain (RBD); the inhibition is removed by an association with the TREX complex, specifically involving ALYREF/THOC4 and THOC5.
  • The TAP-C domain mediates direct interactions with nucleoporin-FG-repeats and is necessary and sufficient for localization of NXF1 to the nuclear rim. The conserved loop 594-NWD-596 of the TAP-C domain has a critical role in the interaction with nucleoporins.
  • The leucine-rich repeats are essential for the export of mRNA from the nucleus.
  • 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 NXF1: view

Function for NXF1 Gene

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Molecular function for NXF1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway) (PubMed:10924507). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex (PubMed:18364396, PubMed:19165146, PubMed:9660949). ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export (PubMed:18364396, PubMed:19165146, PubMed:9660949). Also involved in nuclear export of m6A-containing mRNAs: interaction between SRSF3 and YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export (PubMed:28984244).

Phenotypes From GWAS Catalog for NXF1 Gene

Gene Ontology (GO) - Molecular Function for NXF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IBA 21873635
GO:0003729 mRNA binding IEA --
GO:0005515 protein binding IEA,IPI 9175835
genes like me logo Genes that share ontologies with NXF1: view
genes like me logo Genes that share phenotypes with NXF1: view

Animal Models for research

miRNA for NXF1 Gene

miRTarBase miRNAs that target NXF1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NXF1 Gene

Localization for NXF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NXF1 Gene

Nucleus. Nucleus, nucleoplasm. Nucleus speckle. Nucleus, nuclear pore complex. Nucleus envelope. Cytoplasm. Cytoplasm, Stress granule. Note=Localized predominantly in the nucleoplasm and at both the nucleoplasmic and cytoplasmic faces of the nuclear pore complex. Shuttles between the nucleus and the cytoplasm. Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. The association with the TREX complex seems to occur in regions surrounding nuclear speckles known as perispeckles (PubMed:23826332). Nucleus; nuclear rim (PubMed:25662211). {ECO:0000269 PubMed:23826332, ECO:0000269 PubMed:25662211}.

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 NXF1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NXF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000346 colocalizes_with transcription export complex IDA 23299939
GO:0005634 nucleus IEA,IDA 19864460
GO:0005635 nuclear envelope IEA --
GO:0005643 nuclear pore IEA --
GO:0005654 nucleoplasm IDA,TAS --
genes like me logo Genes that share ontologies with NXF1: view

Pathways & Interactions for NXF1 Gene

genes like me logo Genes that share pathways with NXF1: view

SIGNOR curated interactions for NXF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NXF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006405 RNA export from nucleus IEA,TAS --
GO:0006406 mRNA export from nucleus IEA,TAS --
GO:0015031 protein transport IEA --
GO:0016032 viral process IEA --
GO:0016973 poly(A)+ mRNA export from nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with NXF1: view

Drugs & Compounds for NXF1 Gene

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(3) Drugs for NXF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with NXF1: view

Transcripts for NXF1 Gene

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mRNA/cDNA for NXF1 Gene

2 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXF1

Alternative Splicing Database (ASD) splice patterns (SP) for NXF1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^
SP1: - - - - -
SP2:
SP3: - - - - - - - - - - - - - - - - - -
SP4:
SP5: - -
SP6:
SP7: - - -
SP8: - - - -
SP9:
SP10: - - -
SP11: - - - - - - - - - - - - - - - - - -
SP12:

ExUns: 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for NXF1 Gene

GeneLoc Exon Structure for
NXF1

Expression for NXF1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NXF1 Gene

mRNA expression in normal human tissues for NXF1 Gene
mRNA expression by BioGPS for NXF1 GenemRNA expression by GTEx for NXF1 Gene

Protein differential expression in normal tissues from HIPED for NXF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.9) and Testis (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NXF1 Gene



Protein tissue co-expression partners for NXF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NXF1

SOURCE GeneReport for Unigene cluster for NXF1 Gene:

Hs.523739

mRNA Expression by UniProt/SwissProt for NXF1 Gene:

Q9UBU9-NXF1_HUMAN
Tissue specificity: Expressed ubiquitously.

Evidence on tissue expression from TISSUES for NXF1 Gene

  • Nervous system(5)
  • Blood(4.6)
  • Lung(4.6)
  • Skin(3.1)
  • Kidney(3.1)
  • Liver(2.8)
  • Muscle(2.7)
  • Intestine(2.7)
  • Bone marrow(2.4)
  • Heart(2.4)
  • Lymph node(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with NXF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NXF1 Gene

Orthologs for NXF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NXF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NXF1 30 31
  • 99.73 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NXF1 30 31
  • 90.08 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NXF1 30 31
  • 88.3 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nxf1 30
  • 88.13 (n)
Mouse
(Mus musculus)
 Mammalia Nxf1 30 17 31
  • 87.54 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 81 (a)
 OneToMany
-- 31
  • 58 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia NXF1 31
  • 77 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NXF1 31
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia nxf1 30
  • 63.96 (n)
Str.6094 30
Zebrafish
(Danio rerio)
 Actinopterygii nxf1 30 31
  • 62.47 (n)
 OneToMany
NXF1 (4 of 4) 31
  • 52 (a)
 OneToMany
NXF1 (2 of 4) 31
  • 49 (a)
 OneToMany
NXF1 (3 of 4) 31
  • 49 (a)
 OneToMany
mgab03e05 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2787 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002193 30
  • 48.98 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta sbr 30 31 32
  • 45.78 (n)
 ManyToMany
Nxf3 31
  • 21 (a)
 ManyToMany
nxf2 31
  • 16 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea nxf-2 30 31
  • 43.18 (n)
 ManyToMany
nxf-1 31 32
  • 25 (a)
 ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AAL104C 30
  • 41.12 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C09801g 30
  • 38.55 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MEX67 30 33
  • 37.68 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes mex67 30
  • 42.42 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 36 (a)
 OneToMany
Species where no ortholog for NXF1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for NXF1 Gene

ENSEMBL:
Gene Tree for NXF1 (if available)
TreeFam:
Gene Tree for NXF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NXF1: view image

Paralogs for NXF1 Gene

Paralogs for NXF1 Gene

(5) SIMAP similar genes for NXF1 Gene using alignment to 7 proteins:

  • NXF1_HUMAN
  • B4E227_HUMAN
  • E9PIN3_HUMAN
  • E9PLA7_HUMAN
  • E9PMV7_HUMAN
  • E9PQA4_HUMAN
  • H0YDU0_HUMAN
genes like me logo Genes that share paralogs with NXF1: view

Variants for NXF1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NXF1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs191516295 Likely Benign: not provided 62,801,631(-) G/C
NM_006362.5(NXF1):c.640C>G (p.Leu214Val) 		MISSENSE
rs369105346 Likely Benign: not provided 62,792,705(-) G/T
NM_006362.5(NXF1):c.1761-4C>A 		NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NXF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NXF1 Gene

Variant ID Type Subtype PubMed ID
nsv508636 CNV deletion 20534489
nsv509416 CNV insertion 20534489

Variation tolerance for NXF1 Gene

Residual Variation Intolerance Score: 5.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 22.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NXF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NXF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NXF1 Gene

Disorders for NXF1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NXF1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
influenza
  • flu
lethal congenital contracture syndrome 1
  • lccs1
genital herpes
  • genital herpes simplex
lethal congenital contracture syndrome
  • lccs
- elite association - COSMIC cancer census association via MalaCards
Search NXF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NXF1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NXF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NXF1 Gene

Publications for NXF1 Gene

  1. TAP, the human homolog of Mex67p, mediates CTE-dependent RNA export from the nucleus. (PMID: 9660949) Grüter P … Izaurralde E (Molecular cell 1998) 2 3 4 23
  2. Tap: a novel cellular protein that interacts with tip of herpesvirus saimiri and induces lymphocyte aggregation. (PMID: 9175835) Yoon DW … Jung JU (Immunity 1997) 2 3 4 23
  3. Adaptor Aly and co-adaptor Thoc5 function in the Tap-p15-mediated nuclear export of HSP70 mRNA. (PMID: 19165146) Katahira J … Yoneda Y (The EMBO journal 2009) 3 4 23
  4. The DEAD-box RNA helicase DDX3 associates with export messenger ribonucleoproteins as well as tip-associated protein and participates in translational control. (PMID: 18596238) Lai MC … Tarn WY (Molecular biology of the cell 2008) 3 4 23
  5. Structural basis for the interaction between the Tap/NXF1 UBA domain and FG nucleoporins at 1A resolution. (PMID: 12581645) Grant RP … Stewart M (Journal of molecular biology 2003) 3 4 23

ExternalLinks

View latest publications for NXF1 gene in Mastermind

Products for NXF1 Gene

  • Addgene plasmids for NXF1
  • ProSci Antibodies for NXF1