Property Summary

NCBI Gene PubMed Count 33
Grant Count 12
R01 Count 7
Funding $734,401.78
PubMed Score 28.90
PubTator Score 39.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
psoriasis 1.100 0.002
osteosarcoma -1.074 0.008
pancreatic ductal adenocarcinoma liver m... -1.344 0.001
intraductal papillary-mucinous neoplasm ... 1.100 0.015
ovarian cancer 1.200 0.001

Gene RIF (14)

PMID Text
26459993 Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Evaluation of the skin lesions confirmed the diagnosis and led to identification of a heterozygous point mutation in exon 8 of the NSDHL gene.
26014843 Our findings expand the spectrum of mutations in NSDHL in CHILD syndrome, and indicate that large exon deletions may be not rare.
25900314 A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
22113624 human NSDHL protein and mouse Nsdhl mRNA were expressed in tissues synthesizing cholesterol and steroids and in all peripheral tissues affected by CHILD or CK syndromes.
21129721 found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS
20403997 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19906044 The missense mutation of the NSDHL gene is detected in CHILD syndrome.
19880419 Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl.
18660489 Observational study of gene-disease association. (HuGE Navigator)
17498944 NAD(P) dependent steroid dehydrogenase-like (NSDHL)-shRNA sequences were designed and tested for their effectiveness.
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AA Sequence

MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQ      1 - 70
QGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKL     71 - 140
ILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQ    141 - 210
LVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLS    211 - 280
RILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQ    281 - 350
PLVTMDDAMERTVQSFRHLRRVK                                                   351 - 373
//

Text Mined References (40)

PMID Year Title
26459993 CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
26014843 2015 Large deletions in the NSDHL gene in two patients with CHILD syndrome.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25900314 2015 A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22113624 2012 Expression profile of NSDHL in human peripheral tissues.
21498505 2011 Human lysophosphatidylcholine acyltransferases 1 and 2 are located in lipid droplets where they catalyze the formation of phosphatidylcholine.
More...