NXF3 (nuclear RNA export factor 3)

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Gene Gene information from NCBI Gene database.
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Entrez ID 56000
Gene name Nuclear RNA export factor 3
Gene symbol NXF3
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xq22.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
1
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miRTarBase ID miRNA Experiments Reference
MIRT017649 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
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GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 11545741, 16189514, 19060904, 21516116, 25416956, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
300316 8073 ENSG00000147206
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H4D5
Protein name Nuclear RNA export factor 3 (TAP-like protein 3) (TAPL-3)
Protein function May function as a tissue-specific nuclear mRNA export factor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02136 NTF2 344 → 494 Nuclear transport factor 2 (NTF2) domain Domain
PF09162 Tap-RNA_bind 110 → 192 Tap, RNA-binding Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at high level in testis and at low level in a small number of tissues.
Sequence 
MSLPSGHTTGHTDQVVQRRARCWDIYQRRFSSRSEPVNPGMHSSSHQQQDGDAAMHGAHM
DSPVRYTPYTISPYNRKGSFRKQDQTHVNMEREQKPPERRMEGNMPDGTLGSWFKITVPF
GIKYNEKWLLNLIQNECSVPFVPVEFHYENMHASFFVENASIAYALKNVSGKIWDEDNEK
ISIFVNPAGIPHFVHRELKSEKVEQIKLAMNQQCDVSQEALDIQRLPFYPDMVNRDTKMA
SNPRKCMAASLDVHEENIPTVMSAGEMDKWKGIEPGEKCADRSPVCTTFSDTSSNINSIL
ELFPKLLCLDGQQSPRATLCGTEAHKRLPTCKGSFFGSEMLKNLVLQFLQQYYLIYDSGD
RQGLLSAYHDEACFSLSIPFNPEDSAPSSFCKFFKDSRNIKILKDPYLRGELLKHTKLDI
VDSLSALPKTQHDLSSFLVDMWYQTEWMLCFSVNGVFKEVEGQSQGSVLAFTRTFIATPG
SSSSLCIVNDKLFVRDTSHQGTQSALFTLVPTAFSSSVPAFSQEQQKMLPS
Sequence length 531
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway
Ribosome biogenesis in eukaryotes
Nucleocytoplasmic transport
mRNA surveillance pathway
Amyotrophic lateral sclerosis
Influenza A
Herpes simplex virus 1 infection
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Male infertility Likely pathogenic rs2520507592 RCV004588563
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Familial cancer of breast Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 28800944
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 24209690, 29274323
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer BEFREE 28800944
★★★★★
★☆☆☆☆
Found in Text Mining only
ovarian neoplasm Ovarian neoplasm BEFREE 28800944
★★★★★
★☆☆☆☆
Found in Text Mining only
Uranostaphyloschisis Uranostaphyloschisis BEFREE 24569167
★★★★★
★☆☆☆☆
Found in Text Mining only
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NXF2 5 shared pathwaysRibosome biogenesis in eukaryotes, Nucleocytoplasmic transport, mRNA surveillance pathway, Influenza A, Herpes simplex virus 1 infection Related via 5 shared pathways including Ribosome biogenesis in eukaryotes, Nucleocytoplasmic transport. NXF2B 5 shared pathwaysRibosome biogenesis in eukaryotes, Nucleocytoplasmic transport, mRNA surveillance pathway, Influenza A, Herpes simplex virus 1 infection Related via 5 shared pathways including Ribosome biogenesis in eukaryotes, Nucleocytoplasmic transport. NXT2 1 shared diseaseMale infertility 4 shared pathwaysRibosome biogenesis in eukaryotes, Nucleocytoplasmic transport, mRNA surveillance pathway, Influenza A 1 shared evidence sourceDisgenet (Male infertility) Related via 4 shared pathways including Ribosome biogenesis in eukaryotes, Nucleocytoplasmic transport — evidence mostly Disgenet. NXT1 4 shared pathwaysRibosome biogenesis in eukaryotes, Nucleocytoplasmic transport, mRNA surveillance pathway, Influenza A Related via 4 shared pathways including Ribosome biogenesis in eukaryotes, Nucleocytoplasmic transport. NXF1 5 shared pathwaysRibosome biogenesis in eukaryotes, Nucleocytoplasmic transport, mRNA surveillance pathway, Influenza A, Herpes simplex virus 1 infection Related via 5 shared pathways including Ribosome biogenesis in eukaryotes, Nucleocytoplasmic transport.

No additional diseases found yet through genes similar to NXF3.