Property Summary

NCBI Gene PubMed Count 30
PubMed Score 72.31
PubTator Score 20.44

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9NYP7 B4DZJ2 F6SH78 Q59EL3 Q5TGH5 Q6NXE7 Q7L2S5 Q8NCG4 Q9UI22
Symbols HELO1
SCA38
dJ483K16.1

Gene

PANTHER Protein Class (2)

Gene RIF (12)

PMID Text
26433464 SCA38 subtype is very rare in Mainland China; no disease-related gene mutations in ELOVL5.
26321664 performed a detailed promoter/enhancer analysis of ELOVL5 gene, and identified two new SREBP binding sites, one in the 10 kb upstream region and one in the exon 1
25065913 In transfection experiments, subcellular localization of altered ELOVL5 showed a perinuclear distribution with a signal increase in the Golgi compartment, whereas the wild-type showed a widespread signal in the endoplasmic reticulum.
24167612 Changes in the mRNA-expression levels of FADS1 and 2 directly affect blood DGLA levels and D6D activity. This study suggests that lower mRNA-expressions of FADS2 and ELOVL5 are associated with higher risk of atopic eczema in young children.
23099444 a novel link between Elovl5-mediated synthesis of 18:1,n-7 and GNG through the control of the mTORC2-Akt-FoxO1 pathway
22293571 minor allele copies at rs2294867 associated with an increase in total and LDL cholesterol...number of minor allele copies at rs761179 associated with increase in total cholesterol... However, associations not replicated in independent populations.
21508110 Typical POAG associated with ELOVL5 gene polymorphism may have a late rather than an early onset.
21383846 Not being breastfed resulted in a disadvantage in cognition (5 to 8 points) among children CC homozygote for rs2397142 (low ELOVL5 activity), but not among those carrying the G allele.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20363506 Our genome-wide association study identified SRBD1 and ELOVL5 as new susceptibility genes for (normal tension glaucoma) NTG.
More...

AA Sequence

MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNL      1 - 70
GLTLLSLYMFCELVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQIT     71 - 140
VLHVYHHASMLNIWWFVMNWVPCGHSYFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQLLQF    141 - 210
VLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTNFYIQTYNKKGASRRKDHLKDHQNGSMAAVNGH    211 - 280
TNSFSPLENNVKPRKLRKD                                                       281 - 299
//

Text Mined References (35)

PMID Year Title
26433464 2015 SCA38 is rare in Mainland China.
26321664 2015 Identification of human ELOVL5 enhancer regions controlled by SREBP.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25065913 2014 ELOVL5 mutations cause spinocerebellar ataxia 38.
24167612 2013 Gene expression of desaturase (FADS1 and FADS2) and Elongase (ELOVL5) enzymes in peripheral blood: association with polyunsaturated fatty acid levels and atopic eczema in 4-year-old children.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23099444 2013 Elovl5 regulates the mTORC2-Akt-FOXO1 pathway by controlling hepatic cis-vaccenic acid synthesis in diet-induced obese mice.
22293571 2012 Genetic variation in fatty acid elongases is not associated with intermediate cardiovascular phenotypes or myocardial infarction.
21508110 2011 Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
More...