LOCUS       NM_001350643            3867 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 8, mRNA.
ACCESSION   NM_001350643
VERSION     NM_001350643.2
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 3867)
  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 3867)
  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 3867)
  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 3867)
  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 3867)
  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 3867)
  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 3867)
  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 3867)
  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 3867)
  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 3867)
  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_001350643.1.
            
            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 (8) differs in the 5' UTR and
            lacks an alternate exon in the 3' coding region, compared to
            variant 1. The encoded isoform (2) has a shorter and 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 :: SRR1803617.121699.1,
                                           SRR1660809.82535.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [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
            217-812             AL512506.8         61682-62277
            813-991             AL512506.8         62915-63093
            992-1157            AL512506.8         64501-64666
            1158-1383           AL512506.8         69487-69712
            1384-3174           AL512506.8         72179-73969
            3175-3867           BX538036.1         2140-2832
FEATURES             Location/Qualifiers
     source          1..3867
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..3867
                     /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..812
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             251..1537
                     /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 2 is encoded by transcript variant 8;
                     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 2"
                     /protein_id="NP_001337572.1"
                     /db_xref="GeneID:144811"
                     /db_xref="HGNC:HGNC:26789"
                     /db_xref="MIM:613409"
                     /translation="MAEAVLIDLFGLKLNSQKNCHQTLLKTLNAVQYHHAAKAKFLCI
                     MCCSNISYERDGEQDNCEIETSNGLSALLEEFEIVSCPSMAATLYTIKQKIDEKNLSS
                     IKVIVPRHRKTLMKAFIDQLFTDVYNFEFEDLQVTFRGGLFKQSIEINVITAQELRGI
                     QNEIETFLRSLPALRGKLTIITSSLIPDIFIHGFTTRTGGISYIPTLSSFNLFSSSKR
                     RDPKVVVQENLRRLANAAGFNVEKFYRIKTHHSNDIWIMGRKEPDSYDGITTNQRGVT
                     IAALGADCIPIVFADPVKKACGVAHAGWKGTLLGVAMATVNAMIAEYGCSLEDIVVVL
                     GPSVGPCCFTLPRESAEAFHNLHPACVQLFDSPNPCIDIRKATRYLTGFLYNCFLPPS
                     KLTAREKFSCLIYLKPNGLQWIIHLLGIFLLLFKAK"
     exon            813..991
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1157
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..1383
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1384..3867
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3843..3848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      3867
                     /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 aggtaattgt acccaggcac aggaagacat taatgaaagc
      601 ttttattgat caactcttca ctgatgttta caattttgaa tttgaagatt tgcaagtgac
      661 ttttagggga gggcttttta aacagtccat tgaaataaac gtaatcacag ctcaagaact
      721 aagaggaatt cagaatgaaa tagaaacatt tttgagaagt ctgccagcac tgagaggaaa
      781 attaactatt atcacttctt ctttgatccc agatattttc atacatggat ttactacaag
      841 aacaggtggg atatcttata taccaactct tagctcattc aatctcttca gtagttccaa
      901 acggagagat cccaaggtag tggttcaaga aaatctgcgt aggttggcga atgctgcagg
      961 atttaatgtg gagaaatttt accgaataaa gactcatcat tccaatgaca tctggattat
     1021 gggaagaaag gagcctgact cttatgatgg aataaccaca aatcagagag gagtcacaat
     1081 agcagctctt ggtgcagact gtataccgat agtttttgca gatccagtca aaaaagcatg
     1141 tggggttgct cacgctggtt ggaaaggtac tttgttgggt gttgctatgg ctacagtgaa
     1201 tgctatgata gcagaatatg gctgcagttt ggaagacatt gttgttgtac ttggaccttc
     1261 agtaggacct tgctgtttta ctcttccaag ggaatcagca gaggcatttc ataatcttca
     1321 tcctgcatgt gtacaactat ttgattcacc aaatccctgt atcgacatcc gtaaagccac
     1381 aagatacttg actggatttt tgtataactg cttcctgcct ccttccaaac tgactgcaag
     1441 agagaaattt agctgtttga tttacttaaa accaaatgga ttacaatgga taattcatct
     1501 tttgggtata tttttactat tattcaaagc caaatgattt tcatttaatt gtaataataa
     1561 ctgacaaaaa tcagtatgtt gtagctaata tgttttatgc atgagaatta ttcttaaagt
     1621 ttgttctccc tgtttattac acagatcagg aatagatttg ttcagttcag tatttattgg
     1681 ataccctcta ttggtcaggc attgtgttaa gcatatgtga atcaaaatga acacaacttt
     1741 ttcctttgag tctgatacag tgaaggagat aaacacttct acaacttaaa tttaatttta
     1801 atagcagtag aagagaacat aaggaataga ggttaatttt acccagaagc aggatagaga
     1861 aaatattaca gagaaaatca catatcacat gggctcgaaa gatgtagagg tttttgacaa
     1921 atgaagaaca accataacag gtagagggaa caccatgaac cagggcatga aactgaaagt
     1981 gcataacata ttctagagag agaagggtgt gggcatgagt tagggctgga aaaacaggtt
     2041 ggaaacagat aagtaagggt ctcaaatgca atgtcaaaga gcttgcagtt tattttccag
     2101 gcaatgagta ggcagccaaa aaaaaaaaag taaggatgtt tttttttttt ttcccatggc
     2161 atcatattta agaggatgga tttaaattgt gtgagaccaa agcatagaga ctagataaga
     2221 ggcgatcaaa atatttcaaa aagaaataat gaagatccaa tgaaggaagt ggaaattaaa
     2281 atagggaaga gagtagatgg attagagaga catttaagag atggaatcaa tagatcctgt
     2341 tactagataa tggaagtaag aggtgaggaa gagtggaaaa gtcattaatg actctaagat
     2401 ttctgcttgg ctgcttacca agattggcaa caaagggagg gagaaggttt ggaaaaagag
     2461 agaaggataa tgagtttgac tttacataga atgaagggca tccagataga aatctttggt
     2521 taataattag aaatatagac ctagaaatta ggaggaaacc tgagacagag acaaatattt
     2581 caaagcttac aatacagaga tgatacctga ttctattgga gcaggtttga tcatctaggc
     2641 agaaattagg atgagaaaaa aggagatcca ataatacaac cttatagtca cagaagtaag
     2701 aaaaaaaggg tagttgtttt gaagaagcca ggataggtgt ggaaagtact caaaaagaaa
     2761 tcttcaggga taaaataaag tgataattta aaagaaatca atggattaaa catattgaaa
     2821 ctgttctata ggcagtggtc attgagtcag ctttcagtgc attaggaaga agatgcatag
     2881 gtgtcaactc ttttctgaca gcatttacta gagaagagaa aaagctgggg actacatctt
     2941 caaggaaggg actttttttg gatgagcagt tttgagtgtg tttgtcagtt aaagagagga
     3001 attaggttag ttttcatttg ggaaaaattg tatatatatt taatgtaagt tatcacattg
     3061 catcttaaaa atattcttat ttaatacata tatttcctac atgtatatgt ggtagcatga
     3121 tagcaaataa catttgtttg gtatttccaa aggactttca tgtacattgc ctcattttac
     3181 ctttacagct actctgaaat acacaggcat tatccctttt attcagctga gaaaactgag
     3241 cttcattgag gtggaggtca aaaatcacaa aatttgtgat gaattaagat ttgaacatat
     3301 gttttgtgac tccagttttc ctttcagatt ttaaaattaa ttaaagggat cttcattata
     3361 cttttattgt taactttttg ttaacataat ttattcatac attcagtgaa aattttgttg
     3421 aggtactggg acaggttaaa aaatacagtt gtagccctca ggatatttaa tatccagtga
     3481 aaagtgacag tcagtaaacc aacaatctca atactttgat atatgttgtg aggttgtgat
     3541 aaccgattct tgtttagttt aattctatat ctcccttaga ccagtgttaa atttaaataa
     3601 aacacctcat tttttccaat tcagggaagg cactaaacat aaagcatagg atagaaatgt
     3661 tgaactcatc caaaatatta ttttgtttaa tgaaaatgat gaagattaag gaatacttcc
     3721 atgtattgag taaggttgat aattttctaa ttcttcactg tgcattattt tgtttgaagt
     3781 tggtaaattt ggagtatcct gcagacacat tttgctttat gtactacaac attctacaac
     3841 caaataaaaa ttattttgat tatctga
//
