LOCUS       NM_001350641            4187 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 6, mRNA.
ACCESSION   NM_001350641
VERSION     NM_001350641.2
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 4187)
  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 4187)
  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 4187)
  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 4187)
  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 4187)
  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 4187)
  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 4187)
  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 4187)
  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 4187)
  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 4187)
  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_001350641.1.
            
            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 (6) differs in the 5' UTR,
            compared to variant 1. Variants 1-7 encode the same 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 :: SRR1660807.230440.1,
                                           SRR1803612.140530.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-171               AL512506.8         60303-60473
            172-375             AL512506.8         60646-60849
            376-971             AL512506.8         61682-62277
            972-1150            AL512506.8         62915-63093
            1151-1316           AL512506.8         64501-64666
            1317-1542           AL512506.8         69487-69712
            1543-1703           AL512506.8         70844-71004
            1704-4186           AL512506.8         72179-74661
            4187-4187           BX538036.1         2832-2832
FEATURES             Location/Qualifiers
     source          1..4187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..4187
                     /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..171
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            172..375
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            376..971
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             410..1702
                     /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 1 is encoded by transcript variant 6;
                     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 1"
                     /protein_id="NP_001337570.1"
                     /db_xref="CCDS:CCDS9391.1"
                     /db_xref="GeneID:144811"
                     /db_xref="HGNC:HGNC:26789"
                     /db_xref="MIM:613409"
                     /translation="MAEAVLIDLFGLKLNSQKNCHQTLLKTLNAVQYHHAAKAKFLCI
                     MCCSNISYERDGEQDNCEIETSNGLSALLEEFEIVSCPSMAATLYTIKQKIDEKNLSS
                     IKVIVPRHRKTLMKAFIDQLFTDVYNFEFEDLQVTFRGGLFKQSIEINVITAQELRGI
                     QNEIETFLRSLPALRGKLTIITSSLIPDIFIHGFTTRTGGISYIPTLSSFNLFSSSKR
                     RDPKVVVQENLRRLANAAGFNVEKFYRIKTHHSNDIWIMGRKEPDSYDGITTNQRGVT
                     IAALGADCIPIVFADPVKKACGVAHAGWKGTLLGVAMATVNAMIAEYGCSLEDIVVVL
                     GPSVGPCCFTLPRESAEAFHNLHPACVQLFDSPNPCIDIRKATRILLEQGGILPQNIQ
                     DQNQDLNLCTSCHPDKFFSHVRDGLNFGTQIGFISIKE"
     exon            972..1150
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1316
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1542
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..1703
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1704..4187
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4163..4168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      4187
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="major polyA site"
ORIGIN      
        1 agctctcgcg ctgggcccgc cgcgttcgca ccaagcacgc caggcggccc tggcctacct
       61 ccctcccgcc tcccggcagc tggcacgagg gaacctggcc gtcaggtttc ccctgggatc
      121 ctgggacggt atcaggcggg gaatctgtgc ggccgcggcg aggtaggtga ggctcaggac
      181 gagggacggg gcggcaaatt gtcacagagg tcgccgtaga ccggtgtgca accgaaggtg
      241 aagagcggga aggcgaggac cgaatcgcct ctggtgtgcg ttgtccgaca ggaagtcccg
      301 aatgggctgt gagccgccgg tggaggtgcc cgggcaggtg cagagccaca gcctgcgccc
      361 cgtgagccga ggcgggtgat ttatttggca taaaagtatt ctttcaagga tggcagaagc
      421 tgttttgatt gatctttttg gtttgaaatt gaactctcaa aaaaactgcc atcagacatt
      481 actgaagact ttgaatgctg tccaatacca ccatgctgcc aaggccaagt ttctctgtat
      541 aatgtgttgc agtaacatca gctatgaaag ggatggagaa caagataatt gtgaaataga
      601 aacaagcaat ggattatcag ctctcttgga agaatttgag attgttagct gtcccagcat
      661 ggctgccact ttgtatacca ttaaacagaa aattgatgaa aaaaatctga gcagcattaa
      721 ggtaattgta cccaggcaca ggaagacatt aatgaaagct tttattgatc aactcttcac
      781 tgatgtttac aattttgaat ttgaagattt gcaagtgact tttaggggag ggctttttaa
      841 acagtccatt gaaataaacg taatcacagc tcaagaacta agaggaattc agaatgaaat
      901 agaaacattt ttgagaagtc tgccagcact gagaggaaaa ttaactatta tcacttcttc
      961 tttgatccca gatattttca tacatggatt tactacaaga acaggtggga tatcttatat
     1021 accaactctt agctcattca atctcttcag tagttccaaa cggagagatc ccaaggtagt
     1081 ggttcaagaa aatctgcgta ggttggcgaa tgctgcagga tttaatgtgg agaaatttta
     1141 ccgaataaag actcatcatt ccaatgacat ctggattatg ggaagaaagg agcctgactc
     1201 ttatgatgga ataaccacaa atcagagagg agtcacaata gcagctcttg gtgcagactg
     1261 tataccgata gtttttgcag atccagtcaa aaaagcatgt ggggttgctc acgctggttg
     1321 gaaaggtact ttgttgggtg ttgctatggc tacagtgaat gctatgatag cagaatatgg
     1381 ctgcagtttg gaagacattg ttgttgtact tggaccttca gtaggacctt gctgttttac
     1441 tcttccaagg gaatcagcag aggcatttca taatcttcat cctgcatgtg tacaactatt
     1501 tgattcacca aatccctgta tcgacatccg taaagccaca aggattcttc tagaacaggg
     1561 aggaattctt ccacagaata ttcaggacca gaaccaagat ctcaacctct gtacatcttg
     1621 ccatcctgac aagtttttct cccatgtccg agatggcctt aattttggta cacagattgg
     1681 cttcatatca attaaagaat gagatacttg actggatttt tgtataactg cttcctgcct
     1741 ccttccaaac tgactgcaag agagaaattt agctgtttga tttacttaaa accaaatgga
     1801 ttacaatgga taattcatct tttgggtata tttttactat tattcaaagc caaatgattt
     1861 tcatttaatt gtaataataa ctgacaaaaa tcagtatgtt gtagctaata tgttttatgc
     1921 atgagaatta ttcttaaagt ttgttctccc tgtttattac acagatcagg aatagatttg
     1981 ttcagttcag tatttattgg ataccctcta ttggtcaggc attgtgttaa gcatatgtga
     2041 atcaaaatga acacaacttt ttcctttgag tctgatacag tgaaggagat aaacacttct
     2101 acaacttaaa tttaatttta atagcagtag aagagaacat aaggaataga ggttaatttt
     2161 acccagaagc aggatagaga aaatattaca gagaaaatca catatcacat gggctcgaaa
     2221 gatgtagagg tttttgacaa atgaagaaca accataacag gtagagggaa caccatgaac
     2281 cagggcatga aactgaaagt gcataacata ttctagagag agaagggtgt gggcatgagt
     2341 tagggctgga aaaacaggtt ggaaacagat aagtaagggt ctcaaatgca atgtcaaaga
     2401 gcttgcagtt tattttccag gcaatgagta ggcagccaaa aaaaaaaaag taaggatgtt
     2461 tttttttttt ttcccatggc atcatattta agaggatgga tttaaattgt gtgagaccaa
     2521 agcatagaga ctagataaga ggcgatcaaa atatttcaaa aagaaataat gaagatccaa
     2581 tgaaggaagt ggaaattaaa atagggaaga gagtagatgg attagagaga catttaagag
     2641 atggaatcaa tagatcctgt tactagataa tggaagtaag aggtgaggaa gagtggaaaa
     2701 gtcattaatg actctaagat ttctgcttgg ctgcttacca agattggcaa caaagggagg
     2761 gagaaggttt ggaaaaagag agaaggataa tgagtttgac tttacataga atgaagggca
     2821 tccagataga aatctttggt taataattag aaatatagac ctagaaatta ggaggaaacc
     2881 tgagacagag acaaatattt caaagcttac aatacagaga tgatacctga ttctattgga
     2941 gcaggtttga tcatctaggc agaaattagg atgagaaaaa aggagatcca ataatacaac
     3001 cttatagtca cagaagtaag aaaaaaaggg tagttgtttt gaagaagcca ggataggtgt
     3061 ggaaagtact caaaaagaaa tcttcaggga taaaataaag tgataattta aaagaaatca
     3121 atggattaaa catattgaaa ctgttctata ggcagtggtc attgagtcag ctttcagtgc
     3181 attaggaaga agatgcatag gtgtcaactc ttttctgaca gcatttacta gagaagagaa
     3241 aaagctgggg actacatctt caaggaaggg actttttttg gatgagcagt tttgagtgtg
     3301 tttgtcagtt aaagagagga attaggttag ttttcatttg ggaaaaattg tatatatatt
     3361 taatgtaagt tatcacattg catcttaaaa atattcttat ttaatacata tatttcctac
     3421 atgtatatgt ggtagcatga tagcaaataa catttgtttg gtatttccaa aggactttca
     3481 tgtacattgc ctcattttac ctttacagct actctgaaat acacaggcat tatccctttt
     3541 attcagctga gaaaactgag cttcattgag gtggaggtca aaaatcacaa aatttgtgat
     3601 gaattaagat ttgaacatat gttttgtgac tccagttttc ctttcagatt ttaaaattaa
     3661 ttaaagggat cttcattata cttttattgt taactttttg ttaacataat ttattcatac
     3721 attcagtgaa aattttgttg aggtactggg acaggttaaa aaatacagtt gtagccctca
     3781 ggatatttaa tatccagtga aaagtgacag tcagtaaacc aacaatctca atactttgat
     3841 atatgttgtg aggttgtgat aaccgattct tgtttagttt aattctatat ctcccttaga
     3901 ccagtgttaa atttaaataa aacacctcat tttttccaat tcagggaagg cactaaacat
     3961 aaagcatagg atagaaatgt tgaactcatc caaaatatta ttttgtttaa tgaaaatgat
     4021 gaagattaag gaatacttcc atgtattgag taaggttgat aattttctaa ttcttcactg
     4081 tgcattattt tgtttgaagt tggtaaattt ggagtatcct gcagacacat tttgctttat
     4141 gtactacaac attctacaac caaataaaaa ttattttgat tatctga
//
