LOCUS       NM_001350638            4178 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 3, mRNA.
ACCESSION   NM_001350638
VERSION     NM_001350638.2
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 4178)
  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 4178)
  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 4178)
  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 4178)
  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 4178)
  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 4178)
  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 4178)
  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 4178)
  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 4178)
  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 4178)
  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_001350638.1.
            
            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 (3) 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 :: SRR1660809.211919.1 [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
            367-962             AL512506.8         61682-62277
            963-1141            AL512506.8         62915-63093
            1142-1307           AL512506.8         64501-64666
            1308-1533           AL512506.8         69487-69712
            1534-1694           AL512506.8         70844-71004
            1695-4177           AL512506.8         72179-74661
            4178-4178           BX538036.1         2832-2832
FEATURES             Location/Qualifiers
     source          1..4178
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..4178
                     /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..962
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             401..1693
                     /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 3;
                     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_001337567.1"
                     /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            963..1141
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1307
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1308..1533
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1534..1694
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1695..4178
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4154..4159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      4178
                     /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 aggtaattgt
      721 acccaggcac aggaagacat taatgaaagc ttttattgat caactcttca ctgatgttta
      781 caattttgaa tttgaagatt tgcaagtgac ttttagggga gggcttttta aacagtccat
      841 tgaaataaac gtaatcacag ctcaagaact aagaggaatt cagaatgaaa tagaaacatt
      901 tttgagaagt ctgccagcac tgagaggaaa attaactatt atcacttctt ctttgatccc
      961 agatattttc atacatggat ttactacaag aacaggtggg atatcttata taccaactct
     1021 tagctcattc aatctcttca gtagttccaa acggagagat cccaaggtag tggttcaaga
     1081 aaatctgcgt aggttggcga atgctgcagg atttaatgtg gagaaatttt accgaataaa
     1141 gactcatcat tccaatgaca tctggattat gggaagaaag gagcctgact cttatgatgg
     1201 aataaccaca aatcagagag gagtcacaat agcagctctt ggtgcagact gtataccgat
     1261 agtttttgca gatccagtca aaaaagcatg tggggttgct cacgctggtt ggaaaggtac
     1321 tttgttgggt gttgctatgg ctacagtgaa tgctatgata gcagaatatg gctgcagttt
     1381 ggaagacatt gttgttgtac ttggaccttc agtaggacct tgctgtttta ctcttccaag
     1441 ggaatcagca gaggcatttc ataatcttca tcctgcatgt gtacaactat ttgattcacc
     1501 aaatccctgt atcgacatcc gtaaagccac aaggattctt ctagaacagg gaggaattct
     1561 tccacagaat attcaggacc agaaccaaga tctcaacctc tgtacatctt gccatcctga
     1621 caagtttttc tcccatgtcc gagatggcct taattttggt acacagattg gcttcatatc
     1681 aattaaagaa tgagatactt gactggattt ttgtataact gcttcctgcc tccttccaaa
     1741 ctgactgcaa gagagaaatt tagctgtttg atttacttaa aaccaaatgg attacaatgg
     1801 ataattcatc ttttgggtat atttttacta ttattcaaag ccaaatgatt ttcatttaat
     1861 tgtaataata actgacaaaa atcagtatgt tgtagctaat atgttttatg catgagaatt
     1921 attcttaaag tttgttctcc ctgtttatta cacagatcag gaatagattt gttcagttca
     1981 gtatttattg gataccctct attggtcagg cattgtgtta agcatatgtg aatcaaaatg
     2041 aacacaactt tttcctttga gtctgataca gtgaaggaga taaacacttc tacaacttaa
     2101 atttaatttt aatagcagta gaagagaaca taaggaatag aggttaattt tacccagaag
     2161 caggatagag aaaatattac agagaaaatc acatatcaca tgggctcgaa agatgtagag
     2221 gtttttgaca aatgaagaac aaccataaca ggtagaggga acaccatgaa ccagggcatg
     2281 aaactgaaag tgcataacat attctagaga gagaagggtg tgggcatgag ttagggctgg
     2341 aaaaacaggt tggaaacaga taagtaaggg tctcaaatgc aatgtcaaag agcttgcagt
     2401 ttattttcca ggcaatgagt aggcagccaa aaaaaaaaaa gtaaggatgt tttttttttt
     2461 tttcccatgg catcatattt aagaggatgg atttaaattg tgtgagacca aagcatagag
     2521 actagataag aggcgatcaa aatatttcaa aaagaaataa tgaagatcca atgaaggaag
     2581 tggaaattaa aatagggaag agagtagatg gattagagag acatttaaga gatggaatca
     2641 atagatcctg ttactagata atggaagtaa gaggtgagga agagtggaaa agtcattaat
     2701 gactctaaga tttctgcttg gctgcttacc aagattggca acaaagggag ggagaaggtt
     2761 tggaaaaaga gagaaggata atgagtttga ctttacatag aatgaagggc atccagatag
     2821 aaatctttgg ttaataatta gaaatataga cctagaaatt aggaggaaac ctgagacaga
     2881 gacaaatatt tcaaagctta caatacagag atgatacctg attctattgg agcaggtttg
     2941 atcatctagg cagaaattag gatgagaaaa aaggagatcc aataatacaa ccttatagtc
     3001 acagaagtaa gaaaaaaagg gtagttgttt tgaagaagcc aggataggtg tggaaagtac
     3061 tcaaaaagaa atcttcaggg ataaaataaa gtgataattt aaaagaaatc aatggattaa
     3121 acatattgaa actgttctat aggcagtggt cattgagtca gctttcagtg cattaggaag
     3181 aagatgcata ggtgtcaact cttttctgac agcatttact agagaagaga aaaagctggg
     3241 gactacatct tcaaggaagg gacttttttt ggatgagcag ttttgagtgt gtttgtcagt
     3301 taaagagagg aattaggtta gttttcattt gggaaaaatt gtatatatat ttaatgtaag
     3361 ttatcacatt gcatcttaaa aatattctta tttaatacat atatttccta catgtatatg
     3421 tggtagcatg atagcaaata acatttgttt ggtatttcca aaggactttc atgtacattg
     3481 cctcatttta cctttacagc tactctgaaa tacacaggca ttatcccttt tattcagctg
     3541 agaaaactga gcttcattga ggtggaggtc aaaaatcaca aaatttgtga tgaattaaga
     3601 tttgaacata tgttttgtga ctccagtttt cctttcagat tttaaaatta attaaaggga
     3661 tcttcattat acttttattg ttaacttttt gttaacataa tttattcata cattcagtga
     3721 aaattttgtt gaggtactgg gacaggttaa aaaatacagt tgtagccctc aggatattta
     3781 atatccagtg aaaagtgaca gtcagtaaac caacaatctc aatactttga tatatgttgt
     3841 gaggttgtga taaccgattc ttgtttagtt taattctata tctcccttag accagtgtta
     3901 aatttaaata aaacacctca ttttttccaa ttcagggaag gcactaaaca taaagcatag
     3961 gatagaaatg ttgaactcat ccaaaatatt attttgttta atgaaaatga tgaagattaa
     4021 ggaatacttc catgtattga gtaaggttga taattttcta attcttcact gtgcattatt
     4081 ttgtttgaag ttggtaaatt tggagtatcc tgcagacaca ttttgcttta tgtactacaa
     4141 cattctacaa ccaaataaaa attattttga ttatctga
//
