LOCUS       NM_001139               2515 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B),
            mRNA.
ACCESSION   NM_001139
VERSION     NM_001139.3
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 2515)
  AUTHORS   Chegini,M., Eslami,M., Motavaf,M., Memarsadeghi,O., Hoseini,A.,
            Torab,E., Hoseininasab,F., Amiri,H., Ramandi,S., Mostofinezhad,N.,
            Keivani,F., Ghaffari,S.R. and Rafati,M.
  TITLE     Whole exome sequencing identifies novel pathogenic variants in TGM1
            and ALOX12B in patients with hereditary ichthyosis
  JOURNAL   Arch Dermatol Res 316 (1), 24 (2023)
   PUBMED   38060040
  REMARK    GeneRIF: Whole exome sequencing identifies novel pathogenic
            variants in TGM1 and ALOX12B in patients with hereditary
            ichthyosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2515)
  AUTHORS   Li,J., Tang,L.L. and Ma,J.
  TITLE     Survival-related indicators ALOX12B and SPRR1A are associated with
            DNA damage repair and tumor microenvironment status in HPV
            16-negative head and neck squamous cell carcinoma patients
  JOURNAL   BMC Cancer 22 (1), 714 (2022)
   PUBMED   35768785
  REMARK    GeneRIF: Survival-related indicators ALOX12B and SPRR1A are
            associated with DNA damage repair and tumor microenvironment status
            in HPV 16-negative head and neck squamous cell carcinoma patients.
            Erratum:[BMC Cancer. 2022 Jul 11;22(1):755. doi:
            10.1186/s12885-022-09865-x.. PMID: 35820802]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2515)
  AUTHORS   Meyer,J.M., Crumrine,D., Schneider,H., Dick,A., Schmuth,M.,
            Gruber,R., Radner,F.P.W., Grond,S., Wakefield,J.S., Mauro,T.M. and
            Elias,P.M.
  TITLE     Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency
            Support a Specific Role in Lipid-Protein Cross-Linking
  JOURNAL   Am J Pathol 191 (5), 921-929 (2021)
   PUBMED   33607042
  REMARK    GeneRIF: Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase
            Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.
REFERENCE   4  (bases 1 to 2515)
  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   5  (bases 1 to 2515)
  AUTHORS   Alavi,A., Darki,F., Bidgoli,M.M.R., Zare-Abdollahi,D., Moini,A.,
            Shahshahani,M.M., Fischer,J. and Elahi,E.
  TITLE     Mutation in ALOX12B likely cause of POI and also ichthyosis in a
            large Iranian pedigree
  JOURNAL   Mol Genet Genomics 295 (4), 1039-1053 (2020)
   PUBMED   32253496
  REMARK    GeneRIF: A possible contribution of the SPNS2 variation to POI was
            not strictly ruled out, but various data presented in the text
            including reported association of variations in related gene ALOX12
            with menopause-age and role of ALOX12B in atretic bovine follicle
            formation argue in favor of ALOX12B. It is, therefore, concluded
            that the mutation in ALOX12B is the likely cause of POI in the
            pedigree.
REFERENCE   6  (bases 1 to 2515)
  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   7  (bases 1 to 2515)
  AUTHORS   Tang,K., Finley,R.L. Jr., Nie,D. and Honn,K.V.
  TITLE     Identification of 12-lipoxygenase interaction with cellular
            proteins by yeast two-hybrid screening
  JOURNAL   Biochemistry 39 (12), 3185-3191 (2000)
   PUBMED   10727209
REFERENCE   8  (bases 1 to 2515)
  AUTHORS   Sun,D., McDonnell,M., Chen,X.S., Lakkis,M.M., Li,H., Isaacs,S.N.,
            Elsea,S.H., Patel,P.I. and Funk,C.D.
  TITLE     Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning,
            expression, and gene chromosomal assignment
  JOURNAL   J Biol Chem 273 (50), 33540-33547 (1998)
   PUBMED   9837935
REFERENCE   9  (bases 1 to 2515)
  AUTHORS   Boeglin,W.E., Kim,R.B. and Brash,A.R.
  TITLE     A 12R-lipoxygenase in human skin: mechanistic evidence, molecular
            cloning, and expression
  JOURNAL   Proc Natl Acad Sci U S A 95 (12), 6744-6749 (1998)
   PUBMED   9618483
REFERENCE   10 (bases 1 to 2515)
  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 AC129492.6, BC041058.1 and
            AF059250.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 31, 2018 this sequence version replaced NM_001139.2.
            
            Summary: This gene encodes an enzyme involved in the conversion of
            arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in
            this gene are associated with nonbullous congenital ichthyosiform
            erythroderma. [provided by RefSeq, Sep 2015].
            
            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 :: AF059250.1, BC041058.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647874.1/ ENSP00000497784.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-120               AC129492.6         82473-82592         c
            121-237             BC041058.1         136-252
            238-2515            AF059250.1         1-2278
FEATURES             Location/Qualifiers
     source          1..2515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2515
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /note="arachidonate 12-lipoxygenase, 12R type"
                     /db_xref="GeneID:242"
                     /db_xref="HGNC:HGNC:430"
                     /db_xref="MIM:603741"
     exon            1..421
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..2380
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /EC_number="1.13.11.-"
                     /note="epidermis-type lipoxygenase 12; 12R-lipoxygenase"
                     /codon_start=1
                     /product="arachidonate 12-lipoxygenase, 12R-type"
                     /protein_id="NP_001130.1"
                     /db_xref="CCDS:CCDS11129.1"
                     /db_xref="GeneID:242"
                     /db_xref="HGNC:HGNC:430"
                     /db_xref="MIM:603741"
                     /translation="MATYKVRVATGTDLLSGTRDSISLTIVGTQGESHKQLLNHFGRD
                     FATGAVGQYTVQCPQDLGELIIIRLHKERYAFFPKDPWYCNYVQICAPNGRIYHFPAY
                     QWMDGYETLALREATGKTTADDSLPVLLEHRKEEIRAKQDFYHWRVFLPGLPSYVHIP
                     SYRPPVRRHRNPNRPEWNGYIPGFPILINFKATKFLNLNLRYSFLKTASFFVRLGPMA
                     LAFKVRGLLDCKHSWKRLKDIRKIFPGKKSVVSEYVAEHWAEDTFFGYQYLNGVNPGL
                     IRRCTRIPDKFPVTDDMVAPFLGEGTCLQAELEKGNIYLADYRIMEGIPTVELSGRKQ
                     HHCAPLCLLHFGPEGKMMPIAIQLSQTPGPDCPIFLPSDSEWDWLLAKTWVRYAEFYS
                     HEAIAHLLETHLIAEAFCLALLRNLPMCHPLYKLLIPHTRYTVQINSIGRAVLLNEGG
                     LSAKGMSLGVEGFAGVMVRALSELTYDSLYLPNDFVERGVQDLPGYYYRDDSLAVWNA
                     LEKYVTEIITYYYPSDAAVEGDPELQSWVQEIFKECLLGRESSGFPRCLRTVPELIRY
                     VTIVIYTCSAKHAAVNTGQMEFTAWMPNFPASMRNPPIQTKGLTTLETFMDTLPDVKT
                     TCITLLVLWTLSREPDDRRPLGHFPDIHFVEEAPRRSIEAFRQRLNQISHDIRQRNKC
                     LPIPYYYLDPVLIENSISI"
     exon            422..626
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            627..708
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            709..801
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            802..924
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1028
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1201
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1345
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1549
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1550..1636
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..1806
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1807..1928
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2029
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            2030..2200
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     exon            2201..2515
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2489..2494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /note="hexamer: AACAAA"
     polyA_site      2505
                     /gene="ALOX12B"
                     /gene_synonym="12R-LOX; ARCI2"
                     /note="major polyA site"
ORIGIN      
        1 agaaggcttg gagcccagac acctgctcac tcaccaccag ctgggctccg cctgggcctg
       61 cccggcaccc accccggcca ccaagggcag cagcttttcc agaatttggc tggcaggcct
      121 agtcacccca cctcgccacc tcaccactgc acctcggagg ccagccctgt ccactccact
      181 ctgtgcctgg cttctcttgc ctgccttggg ccttcgtgtg gcccctccac ggtgtctggg
      241 actgagtgcc cctcttgcct cctgaagagc agccatggcc acctacaaag tcagggtggc
      301 cacaggcacc gacctcttgt cgggaacacg ggactccatc tcactgacca ttgtggggac
      361 acaaggagag agccataagc agctgctgaa ccactttggg agagactttg caactggggc
      421 ggtgggccag tacaccgtgc agtgccctca ggacctgggt gagctcatca tcatccgcct
      481 gcacaaagag cggtacgcct tcttccccaa ggacccttgg tactgcaact atgtgcagat
      541 ctgtgccccc aacggccgta tctaccactt ccccgcctac cagtggatgg atggctacga
      601 gaccctggca ctccgggagg ccacaggaaa gacaacagca gatgactcgc tccccgtcct
      661 cctggagcac agaaaagagg agatcagagc caagcaggac ttctaccact ggcgagtctt
      721 tcttcctggc ctgcccagct atgtgcacat tcccagttac cgccctccgg tgcggaggca
      781 tcgcaacccc aaccggcctg agtggaatgg ctatattccg ggattcccaa ttctcatcaa
      841 ctttaaggcc accaagttcc tgaacttaaa tctccgctac tccttcctca agacggcctc
      901 cttcttcgtc cgcctggggc ccatggcact ggctttcaaa gtccgcggcc tgttggactg
      961 caaacattcg tggaagaggc tgaaggacat taggaaaatt ttccctggca agaaatctgt
     1021 cgtctccgag tacgtggccg agcactgggc agaggacacc ttctttgggt accagtacct
     1081 caacggcgtc aaccccggcc tgatccgccg ctgcacgcgg atcccagaca agttccccgt
     1141 cacagacgac atggtggctc cgttcctggg cgagggaacg tgcttgcaag cggagctgga
     1201 gaaggggaac atttacctgg ccgactaccg catcatggag ggcatcccca ccgtggagct
     1261 cagcggccgg aagcagcacc actgcgcccc cctctgcctg ctgcactttg gacccgaggg
     1321 caagatgatg cccatcgcca tccagctcag ccagacccct gggccagatt gccccatctt
     1381 cctgcccagt gattctgagt gggactggct gctagccaag acgtgggtac gctatgcgga
     1441 gttctacagc cacgaggcca tcgcccacct gctggagaca cacctcattg ctgaggcctt
     1501 ctgcctggcc ttgctgagga acctgcccat gtgccacccc ctctacaagc tcctcatccc
     1561 ccatacccga tacaccgtcc agatcaacag cattggccgg gccgttctcc tcaatgaggg
     1621 ggggctctct gccaagggca tgtccctggg cgtggaaggc tttgctgggg tgatggtacg
     1681 ggctctgtcg gagctcacct atgacagcct ctacctcccc aatgactttg tggagcgtgg
     1741 ggtccaggac ctgcctggat attactaccg cgatgacagc ttggcggtgt ggaatgcact
     1801 ggagaagtat gtgacggaga tcatcaccta ttattacccg agtgacgcag ccgtggaggg
     1861 tgatccggaa ttgcagtctt gggtgcagga aatatttaaa gagtgcctcc tggggcggga
     1921 gagctcaggc ttccctaggt gcttgcgaac cgtgcctgag ctgatccgat atgtcactat
     1981 agtcatctac acctgctctg ccaagcacgc tgctgtcaac acaggccaga tggagttcac
     2041 cgcctggatg cccaacttcc cagcgtccat gcggaatcca ccgattcaga ctaaggggct
     2101 gaccactctg gagaccttca tggacacgtt gccggatgtg aagaccacgt gcatcacgct
     2161 gctggtgctc tggaccctca gccgagagcc tgacgacagg cggcccctgg gacacttccc
     2221 ggacattcac ttcgtggagg aggccccgcg gaggagcata gaggcgttcc gccagcgcct
     2281 gaaccagatc tcacacgaca tccgccagcg caacaagtgc cttcccatcc cctactacta
     2341 cctggacccg gtgctgattg agaacagcat ttctatttag gagcgcgctt cccgtctctc
     2401 ctctccccat tctgtgccct actattttca acaaaacaaa acaaacaagc aaaaaacaca
     2461 aaaacctcag agaccaaaac accaaacaaa caaaaaaaca aaaaaccttc ctttc
//
