Property Summary

NCBI Gene PubMed Count 17
Grant Count 1
Funding $14,740.5
PubMed Score 5.02
PubTator Score 45.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
group 3 medulloblastoma -2.300 0.001
glioblastoma -1.300 0.014
atypical teratoid/rhabdoid tumor -2.000 0.000
medulloblastoma, large-cell -1.200 0.004
primitive neuroectodermal tumor -1.300 0.010
adult high grade glioma -1.100 0.020
pilocytic astrocytoma -1.100 0.001

Synonym

Gene

 Grant Application (1)

Gene RIF (6)

PMID Text
24316376 The nuclear and non-nuclear NELF variant transcripts and proteins were identified, explaining variable NELF cellular localization.
23884411 a model in which NELF recruits Pcf11 and NCoR1-GPS2-HDAC3 to paused RNAP II, reinforcing repression of HIV transcription and establishing a critical checkpoint for HIV transcription and latency.
21300340 NELF is associated with normosmic idiopathic hypogonadotropic hypogonadism and Kallmann syndrome, either singly or in combination with a mutation in another gene.
20025934 our findings implicate NELF as a nuclear protein involved in the developmental function of the reproductive axis.
19489874 Observational study of gene-disease association. (HuGE Navigator)
18463157 12% of Kallman syndrome males have KAL1 deletions, but intragenic deletions of the FGFR1, GNRH1, GNRHR, GPR54 and NELF genes are uncommon in Idiopathic hypogonadotropic hypogonadism/Kallman syndrome.

AA Sequence

MGAAASRRRALRSEAMSSVAAKVRAARAFGEYLSQSHPENRNGADHLLADAYSGHDGSPEMQPAPQNKRR      1 - 70
LSLVSNGCYEGSLSEEPSIRKPAGEGPQPRVYTISGEPALLPSPEAEAIELAVVKGRRQRHPHHHSQPLR     71 - 140
ASPGGSREDVSRPCQSWAGSRQGSKECPGCAQLAPGPTPRAFGLDQPPLPETSGRRKKLERMYSVDRVSD    141 - 210
DIPIRTWFPKENLFSFQTATTTMQAISVFRGYAERKRRKRENDSASVIQRNFRKHLRMVGSRRVKAQTFA    211 - 280
ERRERSFSRSWSDPTPMKADTSHDSRDSSDLQSSHCTLDEAFEDLDWDTEKGLEAVACDTEGFVPPKVML    281 - 350
ISSKVPKAEYIPTIIRRDDPSIIPILYDHEHATFEDILEEIERKLNVYHKGAKIWKMLIFCQGGPGHLYL    351 - 420
LKNKVATFAKVEKEEDMIHFWKRLSRLMSKVNPEPNVIHIMGCYILGNPNGEKLFQNLRTLMTPYRVTFE    421 - 490
SPLELSAQGKQMIETYFDFRLYRLWKSRQHSKLLDFDDVL                                  491 - 530
//

Text Mined References (19)

PMID Year Title
24316376 2014 Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines.
23884411 2013 Negative elongation factor (NELF) coordinates RNA polymerase II pausing, premature termination, and chromatin remodeling to regulate HIV transcription.
23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
21700882 2011 Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
21300340 2011 Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
20025934 2010 NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration.
19489874 2010 Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1.
19245807 2009 Cellular dynamics of the negative transcription elongation factor NELF.
18463157 2008 The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
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