LOCUS       NM_001350646            3774 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 11, mRNA.
ACCESSION   NM_001350646
VERSION     NM_001350646.2
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 3774)
  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 3774)
  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 3774)
  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 3774)
  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 3774)
  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 3774)
  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 3774)
  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 3774)
  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 3774)
  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 3774)
  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 Jun 1, 2019 this sequence version replaced NM_001350646.1.
            
            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 (11) 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##
            CDS exon combination :: SRR1660807.150950.1, SRR14038192.1622159.1
                                    [ECO:0000331]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-212               AL512506.8         60634-60845
            213-558             AL512506.8         61682-62027
            559-737             AL512506.8         62915-63093
            738-903             AL512506.8         64501-64666
            904-1129            AL512506.8         69487-69712
            1130-1290           AL512506.8         70844-71004
            1291-3081           AL512506.8         72179-73969
            3082-3774           BX538036.1         2140-2832
FEATURES             Location/Qualifiers
     source          1..3774
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..3774
                     /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..212
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            213..558
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            559..737
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            738..903
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             765..1289
                     /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 11;
                     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_001337575.1"
                     /db_xref="GeneID:144811"
                     /db_xref="HGNC:HGNC:26789"
                     /db_xref="MIM:613409"
                     /translation="MGRKEPDSYDGITTNQRGVTIAALGADCIPIVFADPVKKACGVA
                     HAGWKGTLLGVAMATVNAMIAEYGCSLEDIVVVLGPSVGPCCFTLPRESAEAFHNLHP
                     ACVQLFDSPNPCIDIRKATRILLEQGGILPQNIQDQNQDLNLCTSCHPDKFFSHVRDG
                     LNFGTQIGFISIKE"
     exon            904..1129
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1290
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..3774
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3750..3755
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      3774
                     /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 aggtgattta tttggcataa aagtattctt
      241 tcaaggatgg cagaagctgt tttgattgat ctttttggtt tgaaattgaa ctctcaaaaa
      301 aactgccatc agacattact gaagactttg aatgctgtcc aataccacca tgctgccaag
      361 gccaagtttc tctgtataat gtgttgcagt aacatcagct atgaaaggga tggagaacaa
      421 gataattgtg aaatagaaac aagcaatgga ttatcagctc tcttggaaga atttgagatt
      481 gttagctgtc ccagcatggc tgccactttg tataccatta aacagaaaat tgatgaaaaa
      541 aatctgagca gcattaagat attttcatac atggatttac tacaagaaca ggtgggatat
      601 cttatatacc aactcttagc tcattcaatc tcttcagtag ttccaaacgg agagatccca
      661 aggtagtggt tcaagaaaat ctgcgtaggt tggcgaatgc tgcaggattt aatgtggaga
      721 aattttaccg aataaagact catcattcca atgacatctg gattatggga agaaaggagc
      781 ctgactctta tgatggaata accacaaatc agagaggagt cacaatagca gctcttggtg
      841 cagactgtat accgatagtt tttgcagatc cagtcaaaaa agcatgtggg gttgctcacg
      901 ctggttggaa aggtactttg ttgggtgttg ctatggctac agtgaatgct atgatagcag
      961 aatatggctg cagtttggaa gacattgttg ttgtacttgg accttcagta ggaccttgct
     1021 gttttactct tccaagggaa tcagcagagg catttcataa tcttcatcct gcatgtgtac
     1081 aactatttga ttcaccaaat ccctgtatcg acatccgtaa agccacaagg attcttctag
     1141 aacagggagg aattcttcca cagaatattc aggaccagaa ccaagatctc aacctctgta
     1201 catcttgcca tcctgacaag tttttctccc atgtccgaga tggccttaat tttggtacac
     1261 agattggctt catatcaatt aaagaatgag atacttgact ggatttttgt ataactgctt
     1321 cctgcctcct tccaaactga ctgcaagaga gaaatttagc tgtttgattt acttaaaacc
     1381 aaatggatta caatggataa ttcatctttt gggtatattt ttactattat tcaaagccaa
     1441 atgattttca tttaattgta ataataactg acaaaaatca gtatgttgta gctaatatgt
     1501 tttatgcatg agaattattc ttaaagtttg ttctccctgt ttattacaca gatcaggaat
     1561 agatttgttc agttcagtat ttattggata ccctctattg gtcaggcatt gtgttaagca
     1621 tatgtgaatc aaaatgaaca caactttttc ctttgagtct gatacagtga aggagataaa
     1681 cacttctaca acttaaattt aattttaata gcagtagaag agaacataag gaatagaggt
     1741 taattttacc cagaagcagg atagagaaaa tattacagag aaaatcacat atcacatggg
     1801 ctcgaaagat gtagaggttt ttgacaaatg aagaacaacc ataacaggta gagggaacac
     1861 catgaaccag ggcatgaaac tgaaagtgca taacatattc tagagagaga agggtgtggg
     1921 catgagttag ggctggaaaa acaggttgga aacagataag taagggtctc aaatgcaatg
     1981 tcaaagagct tgcagtttat tttccaggca atgagtaggc agccaaaaaa aaaaaagtaa
     2041 ggatgttttt tttttttttc ccatggcatc atatttaaga ggatggattt aaattgtgtg
     2101 agaccaaagc atagagacta gataagaggc gatcaaaata tttcaaaaag aaataatgaa
     2161 gatccaatga aggaagtgga aattaaaata gggaagagag tagatggatt agagagacat
     2221 ttaagagatg gaatcaatag atcctgttac tagataatgg aagtaagagg tgaggaagag
     2281 tggaaaagtc attaatgact ctaagatttc tgcttggctg cttaccaaga ttggcaacaa
     2341 agggagggag aaggtttgga aaaagagaga aggataatga gtttgacttt acatagaatg
     2401 aagggcatcc agatagaaat ctttggttaa taattagaaa tatagaccta gaaattagga
     2461 ggaaacctga gacagagaca aatatttcaa agcttacaat acagagatga tacctgattc
     2521 tattggagca ggtttgatca tctaggcaga aattaggatg agaaaaaagg agatccaata
     2581 atacaacctt atagtcacag aagtaagaaa aaaagggtag ttgttttgaa gaagccagga
     2641 taggtgtgga aagtactcaa aaagaaatct tcagggataa aataaagtga taatttaaaa
     2701 gaaatcaatg gattaaacat attgaaactg ttctataggc agtggtcatt gagtcagctt
     2761 tcagtgcatt aggaagaaga tgcataggtg tcaactcttt tctgacagca tttactagag
     2821 aagagaaaaa gctggggact acatcttcaa ggaagggact ttttttggat gagcagtttt
     2881 gagtgtgttt gtcagttaaa gagaggaatt aggttagttt tcatttggga aaaattgtat
     2941 atatatttaa tgtaagttat cacattgcat cttaaaaata ttcttattta atacatatat
     3001 ttcctacatg tatatgtggt agcatgatag caaataacat ttgtttggta tttccaaagg
     3061 actttcatgt acattgcctc attttacctt tacagctact ctgaaataca caggcattat
     3121 cccttttatt cagctgagaa aactgagctt cattgaggtg gaggtcaaaa atcacaaaat
     3181 ttgtgatgaa ttaagatttg aacatatgtt ttgtgactcc agttttcctt tcagatttta
     3241 aaattaatta aagggatctt cattatactt ttattgttaa ctttttgtta acataattta
     3301 ttcatacatt cagtgaaaat tttgttgagg tactgggaca ggttaaaaaa tacagttgta
     3361 gccctcagga tatttaatat ccagtgaaaa gtgacagtca gtaaaccaac aatctcaata
     3421 ctttgatata tgttgtgagg ttgtgataac cgattcttgt ttagtttaat tctatatctc
     3481 ccttagacca gtgttaaatt taaataaaac acctcatttt ttccaattca gggaaggcac
     3541 taaacataaa gcataggata gaaatgttga actcatccaa aatattattt tgtttaatga
     3601 aaatgatgaa gattaaggaa tacttccatg tattgagtaa ggttgataat tttctaattc
     3661 ttcactgtgc attattttgt ttgaagttgg taaatttgga gtatcctgca gacacatttt
     3721 gctttatgta ctacaacatt ctacaaccaa ataaaaatta ttttgattat ctga
//
