Gene Gene information from NCBI Gene database.
Entrez ID 55998
Gene name Nuclear RNA export factor 5
Gene symbol NXF5
Synonyms (NCBI Gene)
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Chromosome X
Chromosome location Xq22.1
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 re
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT1200445 hsa-miR-4650-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IDA 11566096
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 11566096
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300319 8075 ENSG00000290798
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H1B4
Protein name Nuclear RNA export factor 5 (TAP-like protein 1) (TAPL-1)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09162 Tap-RNA_bind 10 92 Tap, RNA-binding Domain
Sequence
MRRNTQDENMRKWFKVTIPYGIKYDKAWLMNSIQSNCSVPFTPVDFHYIRNRACFFVQVA
SAASALKDVSYKIYDDENQKICIFVSHFTAPY
SVKNKLKPGQMEMLKLTMNKRYNVSQQA
LDLQNLRFDPDLMGRDIDIILNRRNCMAATLKITERNFPELLSLNLCNNKLYQLDGLSDI
TEKAPKVKTLNLSKNKLESAWELGKVKGLKLEELWLEGNPLCSTFSDQSAYVSAIRDCFP
KLLRLDGRELSAPVIVDIDSSETMKPCKENFTGSETLKHLVLQFLQQSNLCKYFKDSRNI
KILKDPYLQRKLLKHTKCPRNVDSLSALPETQHDFTSILVDMWYQTVNTCFLPRAGPESQ
RWWCLLSLKWKDGLRVLILPSCGPSSLPLAAIPVCAS
Sequence length 397
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Focal segmental glomerulosclerosis Uncertain significance rs199849270 RCV000074394
NXF5-related disorder Benign; Uncertain significance; Likely benign rs78244611, rs55756985, rs367948078, rs746681980, rs778584557, rs77411392, rs191549480 RCV003968505
RCV003913730
RCV003898609
RCV003901130
RCV003894451
RCV003940464
RCV003968236
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Intellectual Disability Associate 23871722
Leiomyoma Associate 21685710
Primary Ovarian Insufficiency Associate 20338563