LOCUS       NM_001350644            3724 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 9, mRNA.
ACCESSION   NM_001350644
VERSION     NM_001350644.2
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 3724)
  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 3724)
  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 3724)
  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 3724)
  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 3724)
  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 3724)
  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 3724)
  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 3724)
  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 3724)
  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 3724)
  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_001350644.1.
            
            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 (9) 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 :: SRR1803616.151644.1 [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
            163-508             AL512506.8         61682-62027
            509-687             AL512506.8         62915-63093
            688-853             AL512506.8         64501-64666
            854-1079            AL512506.8         69487-69712
            1080-1240           AL512506.8         70844-71004
            1241-3723           AL512506.8         72179-74661
            3724-3724           BX538036.1         2832-2832
FEATURES             Location/Qualifiers
     source          1..3724
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..3724
                     /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..508
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            509..687
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            688..853
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             715..1239
                     /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 9;
                     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_001337573.1"
                     /db_xref="GeneID:144811"
                     /db_xref="HGNC:HGNC:26789"
                     /db_xref="MIM:613409"
                     /translation="MGRKEPDSYDGITTNQRGVTIAALGADCIPIVFADPVKKACGVA
                     HAGWKGTLLGVAMATVNAMIAEYGCSLEDIVVVLGPSVGPCCFTLPRESAEAFHNLHP
                     ACVQLFDSPNPCIDIRKATRILLEQGGILPQNIQDQNQDLNLCTSCHPDKFFSHVRDG
                     LNFGTQIGFISIKE"
     exon            854..1079
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1240
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..3724
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3700..3705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      3724
                     /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 aggtgattta tttggcataa
      181 aagtattctt tcaaggatgg cagaagctgt tttgattgat ctttttggtt tgaaattgaa
      241 ctctcaaaaa aactgccatc agacattact gaagactttg aatgctgtcc aataccacca
      301 tgctgccaag gccaagtttc tctgtataat gtgttgcagt aacatcagct atgaaaggga
      361 tggagaacaa gataattgtg aaatagaaac aagcaatgga ttatcagctc tcttggaaga
      421 atttgagatt gttagctgtc ccagcatggc tgccactttg tataccatta aacagaaaat
      481 tgatgaaaaa aatctgagca gcattaagat attttcatac atggatttac tacaagaaca
      541 ggtgggatat cttatatacc aactcttagc tcattcaatc tcttcagtag ttccaaacgg
      601 agagatccca aggtagtggt tcaagaaaat ctgcgtaggt tggcgaatgc tgcaggattt
      661 aatgtggaga aattttaccg aataaagact catcattcca atgacatctg gattatggga
      721 agaaaggagc ctgactctta tgatggaata accacaaatc agagaggagt cacaatagca
      781 gctcttggtg cagactgtat accgatagtt tttgcagatc cagtcaaaaa agcatgtggg
      841 gttgctcacg ctggttggaa aggtactttg ttgggtgttg ctatggctac agtgaatgct
      901 atgatagcag aatatggctg cagtttggaa gacattgttg ttgtacttgg accttcagta
      961 ggaccttgct gttttactct tccaagggaa tcagcagagg catttcataa tcttcatcct
     1021 gcatgtgtac aactatttga ttcaccaaat ccctgtatcg acatccgtaa agccacaagg
     1081 attcttctag aacagggagg aattcttcca cagaatattc aggaccagaa ccaagatctc
     1141 aacctctgta catcttgcca tcctgacaag tttttctccc atgtccgaga tggccttaat
     1201 tttggtacac agattggctt catatcaatt aaagaatgag atacttgact ggatttttgt
     1261 ataactgctt cctgcctcct tccaaactga ctgcaagaga gaaatttagc tgtttgattt
     1321 acttaaaacc aaatggatta caatggataa ttcatctttt gggtatattt ttactattat
     1381 tcaaagccaa atgattttca tttaattgta ataataactg acaaaaatca gtatgttgta
     1441 gctaatatgt tttatgcatg agaattattc ttaaagtttg ttctccctgt ttattacaca
     1501 gatcaggaat agatttgttc agttcagtat ttattggata ccctctattg gtcaggcatt
     1561 gtgttaagca tatgtgaatc aaaatgaaca caactttttc ctttgagtct gatacagtga
     1621 aggagataaa cacttctaca acttaaattt aattttaata gcagtagaag agaacataag
     1681 gaatagaggt taattttacc cagaagcagg atagagaaaa tattacagag aaaatcacat
     1741 atcacatggg ctcgaaagat gtagaggttt ttgacaaatg aagaacaacc ataacaggta
     1801 gagggaacac catgaaccag ggcatgaaac tgaaagtgca taacatattc tagagagaga
     1861 agggtgtggg catgagttag ggctggaaaa acaggttgga aacagataag taagggtctc
     1921 aaatgcaatg tcaaagagct tgcagtttat tttccaggca atgagtaggc agccaaaaaa
     1981 aaaaaagtaa ggatgttttt tttttttttc ccatggcatc atatttaaga ggatggattt
     2041 aaattgtgtg agaccaaagc atagagacta gataagaggc gatcaaaata tttcaaaaag
     2101 aaataatgaa gatccaatga aggaagtgga aattaaaata gggaagagag tagatggatt
     2161 agagagacat ttaagagatg gaatcaatag atcctgttac tagataatgg aagtaagagg
     2221 tgaggaagag tggaaaagtc attaatgact ctaagatttc tgcttggctg cttaccaaga
     2281 ttggcaacaa agggagggag aaggtttgga aaaagagaga aggataatga gtttgacttt
     2341 acatagaatg aagggcatcc agatagaaat ctttggttaa taattagaaa tatagaccta
     2401 gaaattagga ggaaacctga gacagagaca aatatttcaa agcttacaat acagagatga
     2461 tacctgattc tattggagca ggtttgatca tctaggcaga aattaggatg agaaaaaagg
     2521 agatccaata atacaacctt atagtcacag aagtaagaaa aaaagggtag ttgttttgaa
     2581 gaagccagga taggtgtgga aagtactcaa aaagaaatct tcagggataa aataaagtga
     2641 taatttaaaa gaaatcaatg gattaaacat attgaaactg ttctataggc agtggtcatt
     2701 gagtcagctt tcagtgcatt aggaagaaga tgcataggtg tcaactcttt tctgacagca
     2761 tttactagag aagagaaaaa gctggggact acatcttcaa ggaagggact ttttttggat
     2821 gagcagtttt gagtgtgttt gtcagttaaa gagaggaatt aggttagttt tcatttggga
     2881 aaaattgtat atatatttaa tgtaagttat cacattgcat cttaaaaata ttcttattta
     2941 atacatatat ttcctacatg tatatgtggt agcatgatag caaataacat ttgtttggta
     3001 tttccaaagg actttcatgt acattgcctc attttacctt tacagctact ctgaaataca
     3061 caggcattat cccttttatt cagctgagaa aactgagctt cattgaggtg gaggtcaaaa
     3121 atcacaaaat ttgtgatgaa ttaagatttg aacatatgtt ttgtgactcc agttttcctt
     3181 tcagatttta aaattaatta aagggatctt cattatactt ttattgttaa ctttttgtta
     3241 acataattta ttcatacatt cagtgaaaat tttgttgagg tactgggaca ggttaaaaaa
     3301 tacagttgta gccctcagga tatttaatat ccagtgaaaa gtgacagtca gtaaaccaac
     3361 aatctcaata ctttgatata tgttgtgagg ttgtgataac cgattcttgt ttagtttaat
     3421 tctatatctc ccttagacca gtgttaaatt taaataaaac acctcatttt ttccaattca
     3481 gggaaggcac taaacataaa gcataggata gaaatgttga actcatccaa aatattattt
     3541 tgtttaatga aaatgatgaa gattaaggaa tacttccatg tattgagtaa ggttgataat
     3601 tttctaattc ttcactgtgc attattttgt ttgaagttgg taaatttgga gtatcctgca
     3661 gacacatttt gctttatgta ctacaacatt ctacaaccaa ataaaaatta ttttgattat
     3721 ctga
//
