LOCUS       NM_001350648            3617 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 13, mRNA.
ACCESSION   NM_001350648
VERSION     NM_001350648.2
KEYWORDS    RefSeq.
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 3617)
  AUTHORS   Knieper,A.M., von Stuckrad,A.S.L., Minden,K., Goetzke,C.C. and
            Kallinich,T.
  TITLE     [Monogenic variants in Laccase domain-containing 1 (LACC1) as the
            cause of juvenile arthritis]
  JOURNAL   Z Rheumatol 83 (1), 4-14 (2024)
   PUBMED   37921883
  REMARK    GeneRIF: [Monogenic variants in Laccase domain-containing 1 (LACC1)
            as the cause of juvenile arthritis].
            Review article
REFERENCE   2  (bases 1 to 3617)
  AUTHORS   Li,Y., Wu,Z., Tan,X., Tang,L. and Ouyang,F.
  TITLE     LACC1: A critical involvement in macrophage immunometabolism
  JOURNAL   Cell Biol Int 47 (9), 1488-1490 (2023)
   PUBMED   37366569
  REMARK    GeneRIF: LACC1: A critical involvement in macrophage
            immunometabolism.
            Review article
REFERENCE   3  (bases 1 to 3617)
  AUTHORS   Wei,Z., Oh,J., Flavell,R.A. and Crawford,J.M.
  TITLE     LACC1 bridges NOS2 and polyamine metabolism in inflammatory
            macrophages
  JOURNAL   Nature 609 (7926), 348-353 (2022)
   PUBMED   35978195
  REMARK    GeneRIF: LACC1 bridges NOS2 and polyamine metabolism in
            inflammatory macrophages.
            Erratum:[Nature. 2023 Jun;618(7965):E21. doi:
            10.1038/s41586-023-06244-9.. PMID: 37231312]
REFERENCE   4  (bases 1 to 3617)
  AUTHORS   Mathieu,A.L., Omarjee,O., Walzer,T. and Belot,A.
  TITLE     [Macrophage involvement in juvenile arthritis onset: LACC1 bridges
            the gap?]
  JOURNAL   Med Sci (Paris) 38 (2), 133-135 (2022)
   PUBMED   35179464
  REMARK    GeneRIF: [Macrophage involvement in juvenile arthritis onset: LACC1
            bridges the gap?]', trans 'Role des macrophages dans le
            developpement de l'arthrite juvenile - LACC1 fait-il le lien ?
REFERENCE   5  (bases 1 to 3617)
  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   6  (bases 1 to 3617)
  AUTHORS   Liu,H., Irwanto,A., Fu,X., Yu,G., Yu,Y., Sun,Y., Wang,C., Wang,Z.,
            Okada,Y., Low,H., Li,Y., Liany,H., Chen,M., Bao,F., Li,J., You,J.,
            Zhang,Q., Liu,J., Chu,T., Andiappan,A.K., Wang,N., Niu,G., Liu,D.,
            Yu,X., Zhang,L., Tian,H., Zhou,G., Rotzschke,O., Chen,S., Zhang,X.,
            Liu,J. and Zhang,F.
  TITLE     Discovery of six new susceptibility loci and analysis of
            pleiotropic effects in leprosy
  JOURNAL   Nat Genet 47 (3), 267-271 (2015)
   PUBMED   25642632
REFERENCE   7  (bases 1 to 3617)
  AUTHORS   Wakil,S.M., Monies,D.M., Abouelhoda,M., Al-Tassan,N., Al-Dusery,H.,
            Naim,E.A., Al-Younes,B., Shinwari,J., Al-Mohanna,F.A., Meyer,B.F.
            and Al-Mayouf,S.
  TITLE     Association of a mutation in LACC1 with a monogenic form of
            systemic juvenile idiopathic arthritis
  JOURNAL   Arthritis Rheumatol 67 (1), 288-295 (2015)
   PUBMED   25220867
  REMARK    GeneRIF: There is an association of a mutation in LACC1 with a
            monogenic form of systemic juvenile idiopathic arthritis.
REFERENCE   8  (bases 1 to 3617)
  AUTHORS   Sales-Marques,C., Salomao,H., Fava,V.M., Alvarado-Arnez,L.E.,
            Amaral,E.P., Cardoso,C.C., Dias-Batista,I.M., da Silva,W.L.,
            Medeiros,P., da Cunha Lopes Virmond,M., Lana,F.C., Pacheco,A.G.,
            Moraes,M.O., Mira,M.T. and Pereira Latini,A.C.
  TITLE     NOD2 and CCDC122-LACC1 genes are associated with leprosy
            susceptibility in Brazilians
  JOURNAL   Hum Genet 133 (12), 1525-1532 (2014)
   PUBMED   25367361
  REMARK    GeneRIF: Association between leprosy and tag SNPs at NOD2
            (rs8057431) and CCDC122-LACC1 (rs4942254).
REFERENCE   9  (bases 1 to 3617)
  AUTHORS   Guirado,M., Gil,H., Saenz-Lopez,P., Reinboth,J., Garrido,F.,
            Cozar,J.M., Ruiz-Cabello,F. and Carretero,R.
  TITLE     Association between C13ORF31, NOD2, RIPK2 and TLR10 polymorphisms
            and urothelial bladder cancer
  JOURNAL   Hum Immunol 73 (6), 668-672 (2012)
   PUBMED   22504414
REFERENCE   10 (bases 1 to 3617)
  AUTHORS   Zhang,F.R., Huang,W., Chen,S.M., Sun,L.D., Liu,H., Li,Y., Cui,Y.,
            Yan,X.X., Yang,H.T., Yang,R.D., Chu,T.S., Zhang,C., Zhang,L.,
            Han,J.W., Yu,G.Q., Quan,C., Yu,Y.X., Zhang,Z., Shi,B.Q.,
            Zhang,L.H., Cheng,H., Wang,C.Y., Lin,Y., Zheng,H.F., Fu,X.A.,
            Zuo,X.B., Wang,Q., Long,H., Sun,Y.P., Cheng,Y.L., Tian,H.Q.,
            Zhou,F.S., Liu,H.X., Lu,W.S., He,S.M., Du,W.L., Shen,M., Jin,Q.Y.,
            Wang,Y., Low,H.Q., Erwin,T., Yang,N.H., Li,J.Y., Zhao,X.,
            Jiao,Y.L., Mao,L.G., Yin,G., Jiang,Z.X., Wang,X.D., Yu,J.P.,
            Hu,Z.H., Gong,C.H., Liu,Y.Q., Liu,R.Y., Wang,D.M., Wei,D.,
            Liu,J.X., Cao,W.K., Cao,H.Z., Li,Y.P., Yan,W.G., Wei,S.Y.,
            Wang,K.J., Hibberd,M.L., Yang,S., Zhang,X.J. and Liu,J.J.
  TITLE     Genomewide association study of leprosy
  JOURNAL   N Engl J Med 361 (27), 2609-2618 (2009)
   PUBMED   20018961
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL512506.8 and BX538036.1.
            
            On May 31, 2019 this sequence version replaced NM_001350648.1.
            
            Summary: This gene encodes an oxidoreductase that promotes
            fatty-acid oxidation, with concomitant inflammasome activation,
            mitochondrial and NADPH-oxidase-dependent reactive oxygen species
            production, and bactericidal activity of macrophages. The encoded
            protein forms a complex with fatty acid synthase on peroxisomes and
            is thought to be modulated by peroxisome proliferator-activated
            receptor signaling events. Naturally occurring mutations in this
            gene are associated with inflammatory bowel disease, Behcet's
            disease, leprosy, ulcerative colitis, early-onset Crohn's disease,
            and systemic juvenile idiopathic arthritis. [provided by RefSeq,
            Apr 2017].
            
            Transcript Variant: This variant (13) differs in the 5' UTR,
            initiates translation at a downstream start codon, and lacks an
            alternate exon in the 3' coding region, compared to variant 1. The
            encoded isoform (4) is shorter and has a distinct C-terminus,
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1660803.68880.1,
                                           SRR1660805.31423.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-216               AL512506.8         60634-60849
            217-562             AL512506.8         61682-62027
            563-741             AL512506.8         62915-63093
            742-907             AL512506.8         64501-64666
            908-1133            AL512506.8         69487-69712
            1134-2924           AL512506.8         72179-73969
            2925-3617           BX538036.1         2140-2832
FEATURES             Location/Qualifiers
     source          1..3617
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..3617
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="laccase domain containing 1"
                     /db_xref="GeneID:144811"
                     /db_xref="HGNC:HGNC:26789"
                     /db_xref="MIM:613409"
     exon            1..216
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            217..562
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            563..741
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            742..907
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             769..1287
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /EC_number="2.4.2.1"
                     /EC_number="3.5.4.4"
                     /EC_number="2.4.2.28"
                     /note="isoform 4 is encoded by transcript variant 13;
                     laccase domain-containing protein 1; laccase (multicopper
                     oxidoreductase) domain containing 1; fatty acid
                     metabolism-immunity nexus; adenosine deaminase LACC1;
                     guanosine phosphorylase LACC1; S-methyl-5'-thioadenosine
                     phosphorylase LACC1; purine nucleoside phosphorylase
                     LACC1; isocyanic acid synthase"
                     /codon_start=1
                     /product="purine nucleoside phosphorylase LACC1 isoform 4"
                     /protein_id="NP_001337577.1"
                     /db_xref="GeneID:144811"
                     /db_xref="HGNC:HGNC:26789"
                     /db_xref="MIM:613409"
                     /translation="MGRKEPDSYDGITTNQRGVTIAALGADCIPIVFADPVKKACGVA
                     HAGWKGTLLGVAMATVNAMIAEYGCSLEDIVVVLGPSVGPCCFTLPRESAEAFHNLHP
                     ACVQLFDSPNPCIDIRKATRYLTGFLYNCFLPPSKLTAREKFSCLIYLKPNGLQWIIH
                     LLGIFLLLFKAK"
     exon            908..1133
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..3617
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3593..3598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      3617
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="major polyA site"
ORIGIN      
        1 aatttcgttg aggctcagga cgagggacgg ggcggcaaat tgtcacagag gtcgccgtag
       61 accggtgtgc aaccgaaggt gaagagcggg aaggcgagga ccgaatcgcc tctggtgtgc
      121 gttgtccgac aggaagtccc gaatgggctg tgagccgccg gtggaggtgc ccgggcaggt
      181 gcagagccac agcctgcgcc ccgtgagccg aggcgggtga tttatttggc ataaaagtat
      241 tctttcaagg atggcagaag ctgttttgat tgatcttttt ggtttgaaat tgaactctca
      301 aaaaaactgc catcagacat tactgaagac tttgaatgct gtccaatacc accatgctgc
      361 caaggccaag tttctctgta taatgtgttg cagtaacatc agctatgaaa gggatggaga
      421 acaagataat tgtgaaatag aaacaagcaa tggattatca gctctcttgg aagaatttga
      481 gattgttagc tgtcccagca tggctgccac tttgtatacc attaaacaga aaattgatga
      541 aaaaaatctg agcagcatta agatattttc atacatggat ttactacaag aacaggtggg
      601 atatcttata taccaactct tagctcattc aatctcttca gtagttccaa acggagagat
      661 cccaaggtag tggttcaaga aaatctgcgt aggttggcga atgctgcagg atttaatgtg
      721 gagaaatttt accgaataaa gactcatcat tccaatgaca tctggattat gggaagaaag
      781 gagcctgact cttatgatgg aataaccaca aatcagagag gagtcacaat agcagctctt
      841 ggtgcagact gtataccgat agtttttgca gatccagtca aaaaagcatg tggggttgct
      901 cacgctggtt ggaaaggtac tttgttgggt gttgctatgg ctacagtgaa tgctatgata
      961 gcagaatatg gctgcagttt ggaagacatt gttgttgtac ttggaccttc agtaggacct
     1021 tgctgtttta ctcttccaag ggaatcagca gaggcatttc ataatcttca tcctgcatgt
     1081 gtacaactat ttgattcacc aaatccctgt atcgacatcc gtaaagccac aagatacttg
     1141 actggatttt tgtataactg cttcctgcct ccttccaaac tgactgcaag agagaaattt
     1201 agctgtttga tttacttaaa accaaatgga ttacaatgga taattcatct tttgggtata
     1261 tttttactat tattcaaagc caaatgattt tcatttaatt gtaataataa ctgacaaaaa
     1321 tcagtatgtt gtagctaata tgttttatgc atgagaatta ttcttaaagt ttgttctccc
     1381 tgtttattac acagatcagg aatagatttg ttcagttcag tatttattgg ataccctcta
     1441 ttggtcaggc attgtgttaa gcatatgtga atcaaaatga acacaacttt ttcctttgag
     1501 tctgatacag tgaaggagat aaacacttct acaacttaaa tttaatttta atagcagtag
     1561 aagagaacat aaggaataga ggttaatttt acccagaagc aggatagaga aaatattaca
     1621 gagaaaatca catatcacat gggctcgaaa gatgtagagg tttttgacaa atgaagaaca
     1681 accataacag gtagagggaa caccatgaac cagggcatga aactgaaagt gcataacata
     1741 ttctagagag agaagggtgt gggcatgagt tagggctgga aaaacaggtt ggaaacagat
     1801 aagtaagggt ctcaaatgca atgtcaaaga gcttgcagtt tattttccag gcaatgagta
     1861 ggcagccaaa aaaaaaaaag taaggatgtt tttttttttt ttcccatggc atcatattta
     1921 agaggatgga tttaaattgt gtgagaccaa agcatagaga ctagataaga ggcgatcaaa
     1981 atatttcaaa aagaaataat gaagatccaa tgaaggaagt ggaaattaaa atagggaaga
     2041 gagtagatgg attagagaga catttaagag atggaatcaa tagatcctgt tactagataa
     2101 tggaagtaag aggtgaggaa gagtggaaaa gtcattaatg actctaagat ttctgcttgg
     2161 ctgcttacca agattggcaa caaagggagg gagaaggttt ggaaaaagag agaaggataa
     2221 tgagtttgac tttacataga atgaagggca tccagataga aatctttggt taataattag
     2281 aaatatagac ctagaaatta ggaggaaacc tgagacagag acaaatattt caaagcttac
     2341 aatacagaga tgatacctga ttctattgga gcaggtttga tcatctaggc agaaattagg
     2401 atgagaaaaa aggagatcca ataatacaac cttatagtca cagaagtaag aaaaaaaggg
     2461 tagttgtttt gaagaagcca ggataggtgt ggaaagtact caaaaagaaa tcttcaggga
     2521 taaaataaag tgataattta aaagaaatca atggattaaa catattgaaa ctgttctata
     2581 ggcagtggtc attgagtcag ctttcagtgc attaggaaga agatgcatag gtgtcaactc
     2641 ttttctgaca gcatttacta gagaagagaa aaagctgggg actacatctt caaggaaggg
     2701 actttttttg gatgagcagt tttgagtgtg tttgtcagtt aaagagagga attaggttag
     2761 ttttcatttg ggaaaaattg tatatatatt taatgtaagt tatcacattg catcttaaaa
     2821 atattcttat ttaatacata tatttcctac atgtatatgt ggtagcatga tagcaaataa
     2881 catttgtttg gtatttccaa aggactttca tgtacattgc ctcattttac ctttacagct
     2941 actctgaaat acacaggcat tatccctttt attcagctga gaaaactgag cttcattgag
     3001 gtggaggtca aaaatcacaa aatttgtgat gaattaagat ttgaacatat gttttgtgac
     3061 tccagttttc ctttcagatt ttaaaattaa ttaaagggat cttcattata cttttattgt
     3121 taactttttg ttaacataat ttattcatac attcagtgaa aattttgttg aggtactggg
     3181 acaggttaaa aaatacagtt gtagccctca ggatatttaa tatccagtga aaagtgacag
     3241 tcagtaaacc aacaatctca atactttgat atatgttgtg aggttgtgat aaccgattct
     3301 tgtttagttt aattctatat ctcccttaga ccagtgttaa atttaaataa aacacctcat
     3361 tttttccaat tcagggaagg cactaaacat aaagcatagg atagaaatgt tgaactcatc
     3421 caaaatatta ttttgtttaa tgaaaatgat gaagattaag gaatacttcc atgtattgag
     3481 taaggttgat aattttctaa ttcttcactg tgcattattt tgtttgaagt tggtaaattt
     3541 ggagtatcct gcagacacat tttgctttat gtactacaac attctacaac caaataaaaa
     3601 ttattttgat tatctga
//
