LOCUS       NM_001350645            3928 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 10, mRNA.
ACCESSION   NM_001350645
VERSION     NM_001350645.2
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 3928)
  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 3928)
  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 3928)
  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 3928)
  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 3928)
  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 3928)
  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 3928)
  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 3928)
  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 3928)
  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 3928)
  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_001350645.1.
            
            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 (10) differs in the 5' UTR and
            initiates translation at a downstream start codon, compared to
            variant 1. The encoded isoform (3) has a shorter and distinct
            N-terminus, compared to isoform 1. Variants 9-12 encode the same
            isoform (3).
            
            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 :: SRR1803615.41917.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-162               AL512506.8         60303-60464
            163-366             AL512506.8         60646-60849
            367-712             AL512506.8         61682-62027
            713-891             AL512506.8         62915-63093
            892-1057            AL512506.8         64501-64666
            1058-1283           AL512506.8         69487-69712
            1284-1444           AL512506.8         70844-71004
            1445-3927           AL512506.8         72179-74661
            3928-3928           BX538036.1         2832-2832
FEATURES             Location/Qualifiers
     source          1..3928
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..3928
                     /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..162
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            163..366
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            367..712
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            713..891
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            892..1057
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             919..1443
                     /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 3 is encoded by transcript variant 10;
                     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 3"
                     /protein_id="NP_001337574.1"
                     /db_xref="GeneID:144811"
                     /db_xref="HGNC:HGNC:26789"
                     /db_xref="MIM:613409"
                     /translation="MGRKEPDSYDGITTNQRGVTIAALGADCIPIVFADPVKKACGVA
                     HAGWKGTLLGVAMATVNAMIAEYGCSLEDIVVVLGPSVGPCCFTLPRESAEAFHNLHP
                     ACVQLFDSPNPCIDIRKATRILLEQGGILPQNIQDQNQDLNLCTSCHPDKFFSHVRDG
                     LNFGTQIGFISIKE"
     exon            1058..1283
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1444
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1445..3928
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3904..3909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      3928
                     /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 aggctcagga cgagggacgg
      181 ggcggcaaat tgtcacagag gtcgccgtag accggtgtgc aaccgaaggt gaagagcggg
      241 aaggcgagga ccgaatcgcc tctggtgtgc gttgtccgac aggaagtccc gaatgggctg
      301 tgagccgccg gtggaggtgc ccgggcaggt gcagagccac agcctgcgcc ccgtgagccg
      361 aggcgggtga tttatttggc ataaaagtat tctttcaagg atggcagaag ctgttttgat
      421 tgatcttttt ggtttgaaat tgaactctca aaaaaactgc catcagacat tactgaagac
      481 tttgaatgct gtccaatacc accatgctgc caaggccaag tttctctgta taatgtgttg
      541 cagtaacatc agctatgaaa gggatggaga acaagataat tgtgaaatag aaacaagcaa
      601 tggattatca gctctcttgg aagaatttga gattgttagc tgtcccagca tggctgccac
      661 tttgtatacc attaaacaga aaattgatga aaaaaatctg agcagcatta agatattttc
      721 atacatggat ttactacaag aacaggtggg atatcttata taccaactct tagctcattc
      781 aatctcttca gtagttccaa acggagagat cccaaggtag tggttcaaga aaatctgcgt
      841 aggttggcga atgctgcagg atttaatgtg gagaaatttt accgaataaa gactcatcat
      901 tccaatgaca tctggattat gggaagaaag gagcctgact cttatgatgg aataaccaca
      961 aatcagagag gagtcacaat agcagctctt ggtgcagact gtataccgat agtttttgca
     1021 gatccagtca aaaaagcatg tggggttgct cacgctggtt ggaaaggtac tttgttgggt
     1081 gttgctatgg ctacagtgaa tgctatgata gcagaatatg gctgcagttt ggaagacatt
     1141 gttgttgtac ttggaccttc agtaggacct tgctgtttta ctcttccaag ggaatcagca
     1201 gaggcatttc ataatcttca tcctgcatgt gtacaactat ttgattcacc aaatccctgt
     1261 atcgacatcc gtaaagccac aaggattctt ctagaacagg gaggaattct tccacagaat
     1321 attcaggacc agaaccaaga tctcaacctc tgtacatctt gccatcctga caagtttttc
     1381 tcccatgtcc gagatggcct taattttggt acacagattg gcttcatatc aattaaagaa
     1441 tgagatactt gactggattt ttgtataact gcttcctgcc tccttccaaa ctgactgcaa
     1501 gagagaaatt tagctgtttg atttacttaa aaccaaatgg attacaatgg ataattcatc
     1561 ttttgggtat atttttacta ttattcaaag ccaaatgatt ttcatttaat tgtaataata
     1621 actgacaaaa atcagtatgt tgtagctaat atgttttatg catgagaatt attcttaaag
     1681 tttgttctcc ctgtttatta cacagatcag gaatagattt gttcagttca gtatttattg
     1741 gataccctct attggtcagg cattgtgtta agcatatgtg aatcaaaatg aacacaactt
     1801 tttcctttga gtctgataca gtgaaggaga taaacacttc tacaacttaa atttaatttt
     1861 aatagcagta gaagagaaca taaggaatag aggttaattt tacccagaag caggatagag
     1921 aaaatattac agagaaaatc acatatcaca tgggctcgaa agatgtagag gtttttgaca
     1981 aatgaagaac aaccataaca ggtagaggga acaccatgaa ccagggcatg aaactgaaag
     2041 tgcataacat attctagaga gagaagggtg tgggcatgag ttagggctgg aaaaacaggt
     2101 tggaaacaga taagtaaggg tctcaaatgc aatgtcaaag agcttgcagt ttattttcca
     2161 ggcaatgagt aggcagccaa aaaaaaaaaa gtaaggatgt tttttttttt tttcccatgg
     2221 catcatattt aagaggatgg atttaaattg tgtgagacca aagcatagag actagataag
     2281 aggcgatcaa aatatttcaa aaagaaataa tgaagatcca atgaaggaag tggaaattaa
     2341 aatagggaag agagtagatg gattagagag acatttaaga gatggaatca atagatcctg
     2401 ttactagata atggaagtaa gaggtgagga agagtggaaa agtcattaat gactctaaga
     2461 tttctgcttg gctgcttacc aagattggca acaaagggag ggagaaggtt tggaaaaaga
     2521 gagaaggata atgagtttga ctttacatag aatgaagggc atccagatag aaatctttgg
     2581 ttaataatta gaaatataga cctagaaatt aggaggaaac ctgagacaga gacaaatatt
     2641 tcaaagctta caatacagag atgatacctg attctattgg agcaggtttg atcatctagg
     2701 cagaaattag gatgagaaaa aaggagatcc aataatacaa ccttatagtc acagaagtaa
     2761 gaaaaaaagg gtagttgttt tgaagaagcc aggataggtg tggaaagtac tcaaaaagaa
     2821 atcttcaggg ataaaataaa gtgataattt aaaagaaatc aatggattaa acatattgaa
     2881 actgttctat aggcagtggt cattgagtca gctttcagtg cattaggaag aagatgcata
     2941 ggtgtcaact cttttctgac agcatttact agagaagaga aaaagctggg gactacatct
     3001 tcaaggaagg gacttttttt ggatgagcag ttttgagtgt gtttgtcagt taaagagagg
     3061 aattaggtta gttttcattt gggaaaaatt gtatatatat ttaatgtaag ttatcacatt
     3121 gcatcttaaa aatattctta tttaatacat atatttccta catgtatatg tggtagcatg
     3181 atagcaaata acatttgttt ggtatttcca aaggactttc atgtacattg cctcatttta
     3241 cctttacagc tactctgaaa tacacaggca ttatcccttt tattcagctg agaaaactga
     3301 gcttcattga ggtggaggtc aaaaatcaca aaatttgtga tgaattaaga tttgaacata
     3361 tgttttgtga ctccagtttt cctttcagat tttaaaatta attaaaggga tcttcattat
     3421 acttttattg ttaacttttt gttaacataa tttattcata cattcagtga aaattttgtt
     3481 gaggtactgg gacaggttaa aaaatacagt tgtagccctc aggatattta atatccagtg
     3541 aaaagtgaca gtcagtaaac caacaatctc aatactttga tatatgttgt gaggttgtga
     3601 taaccgattc ttgtttagtt taattctata tctcccttag accagtgtta aatttaaata
     3661 aaacacctca ttttttccaa ttcagggaag gcactaaaca taaagcatag gatagaaatg
     3721 ttgaactcat ccaaaatatt attttgttta atgaaaatga tgaagattaa ggaatacttc
     3781 catgtattga gtaaggttga taattttcta attcttcact gtgcattatt ttgtttgaag
     3841 ttggtaaatt tggagtatcc tgcagacaca ttttgcttta tgtactacaa cattctacaa
     3901 ccaaataaaa attattttga ttatctga
//
