NXF5 (nuclear RNA export factor 5)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 55998
• Gene name: Nuclear RNA export factor 5
• Gene symbol: NXF5
• Synonyms (NCBI Gene): -
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT1200445	hsa-miR-4650-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (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
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11566096
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	11566096
GO:0005737	Component	Cytoplasm	IEA
GO:0006406	Process	MRNA export from nucleus	IDA	11566096
GO:0006406	Process	MRNA export from nucleus	IEA
GO:0006406	Process	MRNA export from nucleus	ISS
GO:0016973	Process	Poly(A)+ mRNA export from nucleus	IBA
GO:0042272	Component	Nuclear RNA export factor complex	ISS
GO:0050658	Process	RNA transport	IDA	11566096
GO:0051028	Process	MRNA transport	IEA

Other IDs

• MIM: 300319
• HGNC: 8075
• e!Ensembl: ENSG00000290798

Protein

• UniProt ID: 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
  SAASALKDVSYKIYDDENQKICIFVSHFTAPYSVKNKLKPGQMEMLKLTMNKRYNVSQQA
  LDLQNLRFDPDLMGRDIDIILNRRNCMAATLKITERNFPELLSLNLCNNKLYQLDGLSDI
  TEKAPKVKTLNLSKNKLESAWELGKVKGLKLEELWLEGNPLCSTFSDQSAYVSAIRDCFP
  KLLRLDGRELSAPVIVDIDSSETMKPCKENFTGSETLKHLVLQFLQQSNLCKYFKDSRNI
  KILKDPYLQRKLLKHTKCPRNVDSLSALPETQHDFTSILVDMWYQTVNTCFLPRAGPESQ
  RWWCLLSLKWKDGLRVLILPSCGPSSLPLAAIPVCAS

• Sequence length: 397

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Focal segmental glomerulosclerosis	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NXF5-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (13)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	23686279		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	GENOMICS_ENGLAND_DG	23686279		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	23686279		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG	23686279		★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	23686279		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11566096, 23675524		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	22030050		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23871722	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	21685710	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11566096		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	12784308		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	20338563		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	20338563		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for NXF5.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to NXF5.