Elongation of very long chain fatty acids protein 1

Details

Name
Elongation of very long chain fatty acids protein 1
Synonyms
  • 2.3.1.199
  • 3-keto acyl-CoA synthase ELOVL1
  • ELOVL FA elongase 1
  • ELOVL fatty acid elongase 1
  • SSC1
  • Very long chain 3-ketoacyl-CoA synthase 1
  • Very long chain 3-oxoacyl-CoA synthase 1
Gene Name
ELOVL1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0052419|Elongation of very long chain fatty acids protein 1
MEAVVNLYQEVMKHADPRIQGYPLMGSPLLMTSILLTYVYFVLSLGPRIMANRKPFQLRG
FMIVYNFSLVALSLYIVYEFLMSGWLSTYTWRCDPVDYSNSPEALRMVRVAWLFLFSKFI
ELMDTVIFILRKKDGQVTFLHVFHHSVLPWSWWWGVKIAPGGMGSFHAMINSSVHVIMYL
YYGLSAFGPVAQPYLWWKKHMTAIQLIQFVLVSLHISQYYFMSSCNYQYPVIIHLIWMYG
TIFFMLFSNFWYHSYTKGKRLPRALQQNGAPGIAKVKAN
Number of residues
279
Molecular Weight
32662.49
Theoretical pI
Not Available
GO Classification
Functions
3-oxo-arachidoyl-CoA synthase activity / 3-oxo-cerotoyl-CoA synthase activity / 3-oxo-lignoceronyl-CoA synthase activity / fatty acid elongase activity / very-long-chain 3-ketoacyl-CoA synthase activity
Processes
alpha-linolenic acid metabolic process / ceramide biosynthetic process / establishment of skin barrier / fatty acid elongation, monounsaturated fatty acid / fatty acid elongation, polyunsaturated fatty acid / fatty acid elongation, saturated fatty acid / linoleic acid metabolic process / long-chain fatty-acyl-CoA biosynthetic process / sphingolipid biosynthetic process / unsaturated fatty acid biosynthetic process / very long-chain fatty acid biosynthetic process
Components
endoplasmic reticulum / endoplasmic reticulum membrane / integral component of endoplasmic reticulum membrane / membrane
General Function
Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle (PubMed:29496980, PubMed:30487246). This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis (PubMed:20937905). Indirectly inhibits RPE65 via production of VLCFAs.
Specific Function
3-oxo-arachidoyl-coa synthase activity
Pfam Domain Function
Transmembrane Regions
23-43 61-81 110-130 137-154 176-196 201-221 231-251
Cellular Location
Endoplasmic reticulum membrane
Gene sequence
>lcl|BSEQ0052420|Elongation of very long chain fatty acids protein 1 (ELOVL1)
ATGGAGGCTGTTGTGAACTTGTACCAAGAGGTGATGAAGCACGCAGATCCCCGGATCCAG
GGCTACCCTCTGATGGGGTCCCCCTTGCTAATGACCTCCATTCTCCTGACCTACGTGTAC
TTCGTTCTCTCACTTGGGCCTCGCATCATGGCTAATCGGAAGCCCTTCCAGCTCCGTGGC
TTCATGATTGTCTACAACTTCTCACTGGTGGCACTCTCCCTCTACATTGTCTATGAGTTC
CTGATGTCGGGCTGGCTGAGCACCTATACCTGGCGCTGTGACCCTGTGGACTATTCCAAC
AGCCCTGAGGCACTTAGGATGGTTCGGGTGGCCTGGCTCTTCCTCTTCTCCAAGTTCATT
GAGCTGATGGACACAGTGATCTTTATTCTCCGAAAGAAAGACGGGCAGGTGACCTTCCTA
CATGTCTTCCATCACTCTGTGCTTCCCTGGAGCTGGTGGTGGGGGGTAAAGATTGCCCCG
GGAGGAATGGGCTCTTTCCATGCCATGATAAACTCTTCCGTGCATGTCATAATGTACCTG
TACTACGGATTATCTGCCTTTGGCCCTGTGGCACAACCCTACCTTTGGTGGAAAAAGCAC
ATGACAGCCATTCAGCTGATCCAGTTTGTCCTGGTCTCACTGCACATCTCCCAGTACTAC
TTTATGTCCAGCTGTAACTACCAGTACCCAGTCATTATTCACCTCATCTGGATGTATGGC
ACCATCTTCTTCATGCTGTTCTCCAACTTCTGGTATCACTCTTATACCAAGGGCAAGCGG
CTGCCCCGTGCACTTCAGCAAAATGGAGCTCCAGGTATTGCCAAGGTCAAGGCCAACTGA
Chromosome Location
1
Locus
1p34.2
External Identifiers
ResourceLink
UniProtKB IDQ9BW60
UniProtKB Entry NameELOV1_HUMAN
HGNC IDHGNC:14418
General References
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  6. Kitazawa H, Miyamoto Y, Shimamura K, Nagumo A, Tokita S: Development of a high-density assay for long-chain fatty acyl-CoA elongases. Lipids. 2009 Aug;44(8):765-73. doi: 10.1007/s11745-009-3320-8. Epub 2009 Jul 4. [Article]
  7. Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van Cruchten A, van Engen CE, Wanders RJ, Kemp S: The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol Med. 2010 Mar;2(3):90-7. doi: 10.1002/emmm.201000061. [Article]
  8. Ohno Y, Suto S, Yamanaka M, Mizutani Y, Mitsutake S, Igarashi Y, Sassa T, Kihara A: ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. Proc Natl Acad Sci U S A. 2010 Oct 26;107(43):18439-44. doi: 10.1073/pnas.1005572107. Epub 2010 Oct 11. [Article]
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  12. Mueller N, Sassa T, Morales-Gonzalez S, Schneider J, Salchow DJ, Seelow D, Knierim E, Stenzel W, Kihara A, Schuelke M: De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. J Med Genet. 2019 Mar;56(3):164-175. doi: 10.1136/jmedgenet-2018-105711. Epub 2018 Nov 28. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails