LOCUS       NM_021628               3205 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens arachidonate epidermal lipoxygenase 3 (ALOXE3),
            transcript variant 2, mRNA.
ACCESSION   NM_021628
VERSION     NM_021628.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3205)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 3205)
  AUTHORS   Gao,M.M., Huang,H.Y., Chen,S.Y., Tang,H.L., He,N., Feng,W.C.,
            Lu,P., Hu,F., Yan,H.J. and Long,Y.S.
  TITLE     The ALOXE3 gene variants from patients with Dravet syndrome
            decrease gene expression and enzyme activity
  JOURNAL   Brain Res Bull 170, 81-89 (2021)
   PUBMED   33581311
  REMARK    GeneRIF: The ALOXE3 gene variants from patients with Dravet
            syndrome decrease gene expression and enzyme activity.
REFERENCE   3  (bases 1 to 3205)
  AUTHORS   Hotz,A., Kopp,J., Bourrat,E., Oji,V., Komlosi,K., Giehl,K.,
            Bouadjar,B., Bygum,A., Tantcheva-Poor,I., Hellstrom Pigg,M.,
            Has,C., Yang,Z., Irvine,A.D., Betz,R.C., Zambruno,G., Tadini,G.,
            Sussmuth,K., Gruber,R., Schmuth,M., Mazereeuw-Hautier,J., Jonca,N.,
            Guez,S., Brena,M., Hernandez-Martin,A., van den Akker,P.,
            Bolling,M.C., Hannula-Jouppi,K., Zimmer,A.D., Alter,S.,
            Vahlquist,A. and Fischer,J.
  TITLE     Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a
            Large Cohort of 224 Patients
  JOURNAL   Genes (Basel) 12 (1), 80 (2021)
   PUBMED   33435499
  REMARK    GeneRIF: Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified
            in a Large Cohort of 224 Patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3205)
  AUTHORS   Yu,Z., Schneider,C., Boeglin,W.E. and Brash,A.R.
  TITLE     Epidermal lipoxygenase products of the hepoxilin pathway
            selectively activate the nuclear receptor PPARalpha
  JOURNAL   Lipids 42 (6), 491-497 (2007)
   PUBMED   17436029
  REMARK    GeneRIF: Formation of a ligand for the nuclear receptor PPARalpha
            may be one possibility by which 12R-LOX and eLOX3 contribute to
            epidermal differentiation.
REFERENCE   5  (bases 1 to 3205)
  AUTHORS   Yu,Z., Schneider,C., Boeglin,W.E. and Brash,A.R.
  TITLE     Mutations associated with a congenital form of ichthyosis (NCIE)
            inactivate the epidermal lipoxygenases 12R-LOX and eLOX3
  JOURNAL   Biochim Biophys Acta 1686 (3), 238-247 (2005)
   PUBMED   15629692
  REMARK    GeneRIF: eLOX-3 hydrolase functions in the normal process of skin
            differentiation, and that the loss of function mutations are the
            basis of the LOX-dependent form of Non-bullous congenital
            ichthyosiform erythroderma.
REFERENCE   6  (bases 1 to 3205)
  AUTHORS   Yu,Z., Schneider,C., Boeglin,W.E., Marnett,L.J. and Brash,A.R.
  TITLE     The lipoxygenase gene ALOXE3 implicated in skin differentiation
            encodes a hydroperoxide isomerase
  JOURNAL   Proc Natl Acad Sci U S A 100 (16), 9162-9167 (2003)
   PUBMED   12881489
REFERENCE   7  (bases 1 to 3205)
  AUTHORS   Jobard,F., Lefevre,C., Karaduman,A., Blanchet-Bardon,C., Emre,S.,
            Weissenbach,J., Ozguc,M., Lathrop,M., Prud'homme,J.F. and
            Fischer,J.
  TITLE     Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are
            mutated in non-bullous congenital ichthyosiform erythroderma (NCIE)
            linked to chromosome 17p13.1
  JOURNAL   Hum Mol Genet 11 (1), 107-113 (2002)
   PUBMED   11773004
  REMARK    GeneRIF: Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B)
            are mutated in non-bullous congenital ichthyosiform erythroderma
            (NCIE) linked to chromosome 17p13.1.
REFERENCE   8  (bases 1 to 3205)
  AUTHORS   Krebsova,A., Kuster,W., Lestringant,G.G., Schulze,B., Hinz,B.,
            Frossard,P.M., Reis,A. and Hennies,H.C.
  TITLE     Identification, by homozygosity mapping, of a novel locus for
            autosomal recessive congenital ichthyosis on chromosome 17p, and
            evidence for further genetic heterogeneity
  JOURNAL   Am J Hum Genet 69 (1), 216-222 (2001)
   PUBMED   11398099
REFERENCE   9  (bases 1 to 3205)
  AUTHORS   Krieg,P., Marks,F. and Furstenberger,G.
  TITLE     A gene cluster encoding human epidermis-type lipoxygenases at
            chromosome 17p13.1: cloning, physical mapping, and expression
  JOURNAL   Genomics 73 (3), 323-330 (2001)
   PUBMED   11350124
REFERENCE   10 (bases 1 to 3205)
  AUTHORS   Richard,G.
  TITLE     Autosomal Recessive Congenital Ichthyosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301593
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA183156.1, AK313677.1 and
            AF182218.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_021628.2.
            
            Summary: This gene is a member of the lipoxygenase family, which
            are catabolized by arachidonic acid-derived compounds. The encoded
            enzyme is a hydroperoxide isomerase that synthesizes a unique type
            of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic
            acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This
            epoxy alcohol can activate the the nuclear receptor peroxisome
            proliferator-activated receptor alpha (PPARalpha), which is
            implicated in epidermal differentiation. Loss of function of the
            enzyme encoded by this gene results in ichthyosis, implicating the
            function of this gene in the differentiation of human skin. This
            gene is part of a cluster of lipoxygenase genes on 17p13.1.
            Mutations in this gene result in nonbullous congenital
            ichthyosiform erythroderma (NCIE). Multiple transcript variants
            encoding different isoforms have been found for this gene.[provided
            by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (2) represents use of an alternate
            promoter and 5' UTR and uses a downstream start codon, compared to
            variant 1. The resulting isoform (2) has a shorter N-terminus,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1344325.1,
                                           SRR14038193.4527354.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968832 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000448843.7/ ENSP00000400581.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 DA183156.1         29-36
            9-2478              AK313677.1         1-2470
            2479-3205           AF182218.1         2338-3064
FEATURES             Location/Qualifiers
     source          1..3205
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..3205
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /note="arachidonate epidermal lipoxygenase 3"
                     /db_xref="GeneID:59344"
                     /db_xref="HGNC:HGNC:13743"
                     /db_xref="MIM:607206"
     exon            1..29
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            30..489
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     CDS             343..2478
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /EC_number="5.4.4.7"
                     /EC_number="4.2.1.152"
                     /note="isoform 2 is encoded by transcript variant 2;
                     epidermal lipoxygenase; epidermis-type lipoxygenase 3;
                     e-LOX-3; epidermal LOX-3; hydroperoxide isomerase ALOXE3;
                     hydroperoxy icosatetraenoate dehydratase; Epidermal
                     lipoxygenase-3; hydroperoxy dehydratase ALOXE3;
                     hydroperoxy icosatetraenoate isomerase; Lamellar
                     ichthyosis 5; arachidonate lipoxygenase 3"
                     /codon_start=1
                     /product="hydroperoxide isomerase ALOXE3 isoform 2"
                     /protein_id="NP_067641.2"
                     /db_xref="CCDS:CCDS11130.1"
                     /db_xref="GeneID:59344"
                     /db_xref="HGNC:HGNC:13743"
                     /db_xref="MIM:607206"
                     /translation="MAVYRLCVTTGPYLRAGTLDNISVTLVGTCGESPKQRLDRMGRD
                     FAPGSVQKYKVRCTAELGELLLLRVHKERYAFFRKDSWYCSRICVTEPDGSVSHFPCY
                     QWIEGYCTVELRPGTARTICQDSLPLLLDHRTRELRARQECYRWKIYAPGFPCMVDVN
                     SFQEMESDKKFALTKTTTCVDQGDSSGNRYLPGFPMKIDIPSLMYMEPNVRYSATKTI
                     SLLFNAIPASLGMKLRGLLDRKGSWKKLDDMQNIFWCHKTFTTKYVTEHWCEDHFFGY
                     QYLNGVNPVMLHCISSLPSKLPVTNDMVAPLLGQDTCLQTELERGNIFLADYWILAEA
                     PTHCLNGRQQYVAAPLCLLWLSPQGALVPLAIQLSQTPGPDSPIFLPTDSEWDWLLAK
                     TWVRNSEFLVHENNTHFLCTHLLCEAFAMATLRQLPLCHPIYKLLLPHTRYTLQVNTI
                     ARATLLNPEGLVDQVTSIGRQGLIYLMSTGLAHFTYTNFCLPDSLRARGVLAIPNYHY
                     RDDGLKIWAAIESFVSEIVGYYYPSDASVQQDSELQAWTGEIFAQAFLGRESSGFPSR
                     LCTPGEMVKFLTAIIFNCSAQHAAVNSGQHDFGAWMPNAPSSMRQPPPQTKGTTTLKT
                     YLDTLPEVNISCNNLLLFWLVSQEPKDQRPLGTYPDEHFTEEAPRRSIAAFQSRLAQI
                     SRDIQERNQGLALPYTYLDPPLIENSVSI"
     exon            490..694
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            695..776
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            777..896
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1022
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1126
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1299
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1443
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1647
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            1648..1734
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            1735..1904
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            1905..2026
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            2027..2127
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            2128..2298
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     exon            2299..3205
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3179..3184
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /note="hexamer: AATAAA"
     polyA_site      3205
                     /gene="ALOXE3"
                     /gene_synonym="ARCI3; E-LOX; eLOX-3; eLOX3; LI5"
                     /note="major polyA site"
ORIGIN      
        1 acacggatga ttcacacgta ggaatgcagt ggaacccagg ctcctgatat ccatctgggt
       61 gagccagcca gagggaccgg ctgtgtcaga ggcaagcaaa caagtattag agtgcaagac
      121 tgtgggcgga gagaggaagc ccgagccgcc agcagggagc ttcggagaga gaaagcccag
      181 gaacatccca gagagagctg ggcccatcct cagccctacc cagccccgca gcccctagcc
      241 ctccgcccag aaacccagcc ctgtccggcg tgccgctctt ctcctccagg ccggctgctg
      301 ctgcggccag cgttgccggg gcatcccttc ctccttccca tcatggcagt gtaccgcctg
      361 tgtgtgacca ctggtcccta cctgagggcc ggcacactgg acaacatctc tgtcacactg
      421 gtgggcacgt gtggtgaaag ccccaagcag cggctagatc gaatgggcag ggacttcgcc
      481 cctggatcgg tacagaagta caaggtgcgt tgcacagcgg agctgggtga gctcttgctg
      541 ctgcgtgtac acaaggagcg ctacgctttc ttccgcaagg actcttggta ctgtagccgc
      601 atctgtgtca ccgaaccgga tggtagtgta tcccacttcc cctgctatca gtggattgaa
      661 ggctactgca ccgtggagct gaggccagga acagcaagaa ctatttgtca ggactctctt
      721 cccctcctcc tggatcacag gacacgggag ctccgggccc gacaagaatg ctaccgctgg
      781 aagatctatg cccctggctt cccctgcatg gtagacgtca acagctttca ggagatggag
      841 tcagacaaga aatttgcctt gacaaagacg acaacttgtg tagaccaggg tgacagcagt
      901 gggaatcggt acctgcccgg cttccccatg aaaattgaca tcccatccct gatgtacatg
      961 gagcccaatg ttcgatactc agccaccaag acgatctcgc tgctcttcaa tgccatccct
     1021 gcgtccttgg gaatgaagct tcgagggctg ttggatcgca agggctcctg gaagaagctg
     1081 gatgacatgc agaacatctt ctggtgccat aagaccttca cgacaaagta tgtcacagag
     1141 cactggtgtg aagatcactt ctttgggtac cagtacctga atggtgtcaa tcccgtcatg
     1201 ctccactgca tctctagctt gcccagcaag ctgcctgtca ccaatgacat ggtggccccc
     1261 ttgctgggac aggacacatg cctgcagaca gagctagaga gggggaacat cttcctagcg
     1321 gactactgga tcctggcgga ggcccccacc cactgcctaa acggccgcca gcagtacgtg
     1381 gccgccccac tgtgcctgct gtggctcagc ccccaggggg cgctggtgcc cttggccatc
     1441 cagctcagcc agacccccgg gcctgacagc cccatcttcc tgcccactga ctccgaatgg
     1501 gactggctgc tggccaagac gtgggtgcgc aactctgagt tcctggtgca cgaaaacaac
     1561 acgcactttc tgtgcacgca tttgctgtgc gaggccttcg ccatggccac gctgcgccag
     1621 ctgccgctct gccaccccat ctacaagctc ctactccccc acactcgata cacgctgcag
     1681 gtgaacacca tcgcgagggc cacgctgctc aaccccgagg gcctcgtgga ccaggtcacg
     1741 tccatcggga ggcaaggcct catctacctc atgagcacgg gcctggccca cttcacctac
     1801 accaatttct gccttccgga cagcctgcgg gcccgcggcg tcctggctat ccccaactac
     1861 cactaccgag acgacggcct gaagatctgg gcggccattg agagctttgt ctcagaaatc
     1921 gtgggctact attatcccag tgacgcatct gtgcagcagg attcggagct gcaggcctgg
     1981 actggcgaga tttttgctca ggcgttcctg ggccgggaaa gctcaggttt cccaagccgg
     2041 ctgtgcaccc caggagagat ggtgaagttc ctcactgcaa tcatcttcaa ttgctctgcc
     2101 cagcacgctg ctgtcaacag tgggcagcat gactttgggg cctggatgcc caatgctcca
     2161 tcatccatga ggcagccccc accccagacc aaggggacca ccaccctgaa gacttaccta
     2221 gacaccctcc ctgaagtgaa catcagctgt aacaacctcc tcctcttctg gttggttagc
     2281 caagaaccca aggaccagag gcccctgggc acctacccag atgagcactt cacagaggag
     2341 gccccgaggc ggagcatcgc cgccttccag agccgcctgg cccagatctc aagggacatc
     2401 caggagcgga accagggtct ggcactgccc tacacctacc tggaccctcc cctcattgag
     2461 aacagcgtct ccatctaacc acccccaaat accacccaag aagaaagaaa ggtccaagca
     2521 tgaggaggac cagttcctca ggtcctccag acccttccat cctccctgtt ctcagttcac
     2581 ctgaaccttc tcttctgcac atggagactt ttgcagccaa gatggctctg acatcataca
     2641 aactgggccc tgagctgtga gagaccagca cagcagcgtc caggttaaaa gccgctgacc
     2701 aaagtccaat gcacaatagc ccctccgaaa ggaaggaacc gcttcacttc ttgccccact
     2761 tggggcagcc tcttgttcca gcctcttgga atgcccagct tgggtttctg agcttttctc
     2821 cctcatcctc cccaatcccc aaactccttc tcctaccatg cctttctacg ttctctttct
     2881 tccaagccta gagccaccag cccagcttcc ttctctggaa aagcctggaa actgggcaca
     2941 gaaggactgt gtgcctgggt ctaacatgtg gtcccctttg tccctagcac ctttaagggg
     3001 aggggaagaa ttggagggca gcttgcctgg acccctaacg gctgttctca ggaacaggtt
     3061 cccaggcctg gggtgtttgt ggagatctgt ctttctccaa agatttcatc caactcccct
     3121 ttcatcccac tccctttcat cccatttttt tctttctgtc cttgagccca gtgagttcaa
     3181 taaaaaccaa aatatttggc tctca
//
