Property Summary

NCBI Gene PubMed Count 8
PubMed Score 4.85
PubTator Score 4.71

Knowledge Summary

Patent

No data available

Expression

Gene RIF (2)

PMID Text
23686279 study of an Australian pedigree in which focal segmental glomerulosclerosis co-segregates with progressive heart block; study found 2 mutations NXF5-R113W and ALG13-T141L segregated with disease phenotype; predicted the NXF5 R113W mutation to be deleterious; cellular studies support a role in the stability and localization of the protein suggesting a causative role
12784308 Mutations of the NXF5 gene is associated with X-linked mental retardation

AA Sequence

MRRNTQDENMRKWFKVTIPYGIKYDKAWLMNSIQSNCSVPFTPVDFHYIRNRACFFVQVASAASALKDVS      1 - 70
YKIYDDENQKICIFVSHFTAPYSVKNKLKPGQMEMLKLTMNKRYNVSQQALDLQNLRFDPDLMGRDIDII     71 - 140
LNRRNCMAATLKITERNFPELLSLNLCNNKLYQLDGLSDITEKAPKVKTLNLSKNKLESAWELGKVKGLK    141 - 210
LEELWLEGNPLCSTFSDQSAYVSAIRDCFPKLLRLDGRELSAPVIVDIDSSETMKPCKENFTGSETLKHL    211 - 280
VLQFLQQSNLCKYFKDSRNIKILKDPYLQRKLLKHTKCPRNVDSLSALPETQHDFTSILVDMWYQTVNTC    281 - 350
FLPRAGPESQRWWCLLSLKWKDGLRVLILPSCGPSSLPLAAIPVCAS                           351 - 397
//

Text Mined References (10)

PMID Year Title
23686279 2013 Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14759258 2004 An unappreciated role for RNA surveillance.
12784308 2003 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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11566096 2001 NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation.
11073998 2000 TAP (NXF1) belongs to a multigene family of putative RNA export factors with a conserved modular architecture.