LOCUS       NM_001350642            4161 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 7, mRNA.
ACCESSION   NM_001350642
VERSION     NM_001350642.2
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 4161)
  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 4161)
  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 4161)
  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 4161)
  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 4161)
  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 4161)
  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 4161)
  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 4161)
  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 4161)
  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 4161)
  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_001350642.1.
            
            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 (7) 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 :: SRR1803615.199480.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-349               AL512506.8         60634-60982
            350-945             AL512506.8         61682-62277
            946-1124            AL512506.8         62915-63093
            1125-1290           AL512506.8         64501-64666
            1291-1516           AL512506.8         69487-69712
            1517-1677           AL512506.8         70844-71004
            1678-3468           AL512506.8         72179-73969
            3469-4161           BX538036.1         2140-2832
FEATURES             Location/Qualifiers
     source          1..4161
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..4161
                     /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..349
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            350..945
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             384..1676
                     /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 7;
                     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_001337571.1"
                     /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            946..1124
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1290
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1516
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1517..1677
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1678..4161
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4137..4142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      4161
                     /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 aggcgggtag gaggaacagg gacctggcgg
      241 cgacacacgt tgggcggaaa ttcacaatga acagggaagg ggggacggtc acccactcaa
      301 aactggctaa atgaacctca gagggagccc cgagagatgg ggagcaaagg tgatttattt
      361 ggcataaaag tattctttca aggatggcag aagctgtttt gattgatctt tttggtttga
      421 aattgaactc tcaaaaaaac tgccatcaga cattactgaa gactttgaat gctgtccaat
      481 accaccatgc tgccaaggcc aagtttctct gtataatgtg ttgcagtaac atcagctatg
      541 aaagggatgg agaacaagat aattgtgaaa tagaaacaag caatggatta tcagctctct
      601 tggaagaatt tgagattgtt agctgtccca gcatggctgc cactttgtat accattaaac
      661 agaaaattga tgaaaaaaat ctgagcagca ttaaggtaat tgtacccagg cacaggaaga
      721 cattaatgaa agcttttatt gatcaactct tcactgatgt ttacaatttt gaatttgaag
      781 atttgcaagt gacttttagg ggagggcttt ttaaacagtc cattgaaata aacgtaatca
      841 cagctcaaga actaagagga attcagaatg aaatagaaac atttttgaga agtctgccag
      901 cactgagagg aaaattaact attatcactt cttctttgat cccagatatt ttcatacatg
      961 gatttactac aagaacaggt gggatatctt atataccaac tcttagctca ttcaatctct
     1021 tcagtagttc caaacggaga gatcccaagg tagtggttca agaaaatctg cgtaggttgg
     1081 cgaatgctgc aggatttaat gtggagaaat tttaccgaat aaagactcat cattccaatg
     1141 acatctggat tatgggaaga aaggagcctg actcttatga tggaataacc acaaatcaga
     1201 gaggagtcac aatagcagct cttggtgcag actgtatacc gatagttttt gcagatccag
     1261 tcaaaaaagc atgtggggtt gctcacgctg gttggaaagg tactttgttg ggtgttgcta
     1321 tggctacagt gaatgctatg atagcagaat atggctgcag tttggaagac attgttgttg
     1381 tacttggacc ttcagtagga ccttgctgtt ttactcttcc aagggaatca gcagaggcat
     1441 ttcataatct tcatcctgca tgtgtacaac tatttgattc accaaatccc tgtatcgaca
     1501 tccgtaaagc cacaaggatt cttctagaac agggaggaat tcttccacag aatattcagg
     1561 accagaacca agatctcaac ctctgtacat cttgccatcc tgacaagttt ttctcccatg
     1621 tccgagatgg ccttaatttt ggtacacaga ttggcttcat atcaattaaa gaatgagata
     1681 cttgactgga tttttgtata actgcttcct gcctccttcc aaactgactg caagagagaa
     1741 atttagctgt ttgatttact taaaaccaaa tggattacaa tggataattc atcttttggg
     1801 tatattttta ctattattca aagccaaatg attttcattt aattgtaata ataactgaca
     1861 aaaatcagta tgttgtagct aatatgtttt atgcatgaga attattctta aagtttgttc
     1921 tccctgttta ttacacagat caggaataga tttgttcagt tcagtattta ttggataccc
     1981 tctattggtc aggcattgtg ttaagcatat gtgaatcaaa atgaacacaa ctttttcctt
     2041 tgagtctgat acagtgaagg agataaacac ttctacaact taaatttaat tttaatagca
     2101 gtagaagaga acataaggaa tagaggttaa ttttacccag aagcaggata gagaaaatat
     2161 tacagagaaa atcacatatc acatgggctc gaaagatgta gaggtttttg acaaatgaag
     2221 aacaaccata acaggtagag ggaacaccat gaaccagggc atgaaactga aagtgcataa
     2281 catattctag agagagaagg gtgtgggcat gagttagggc tggaaaaaca ggttggaaac
     2341 agataagtaa gggtctcaaa tgcaatgtca aagagcttgc agtttatttt ccaggcaatg
     2401 agtaggcagc caaaaaaaaa aaagtaagga tgtttttttt ttttttccca tggcatcata
     2461 tttaagagga tggatttaaa ttgtgtgaga ccaaagcata gagactagat aagaggcgat
     2521 caaaatattt caaaaagaaa taatgaagat ccaatgaagg aagtggaaat taaaataggg
     2581 aagagagtag atggattaga gagacattta agagatggaa tcaatagatc ctgttactag
     2641 ataatggaag taagaggtga ggaagagtgg aaaagtcatt aatgactcta agatttctgc
     2701 ttggctgctt accaagattg gcaacaaagg gagggagaag gtttggaaaa agagagaagg
     2761 ataatgagtt tgactttaca tagaatgaag ggcatccaga tagaaatctt tggttaataa
     2821 ttagaaatat agacctagaa attaggagga aacctgagac agagacaaat atttcaaagc
     2881 ttacaataca gagatgatac ctgattctat tggagcaggt ttgatcatct aggcagaaat
     2941 taggatgaga aaaaaggaga tccaataata caaccttata gtcacagaag taagaaaaaa
     3001 agggtagttg ttttgaagaa gccaggatag gtgtggaaag tactcaaaaa gaaatcttca
     3061 gggataaaat aaagtgataa tttaaaagaa atcaatggat taaacatatt gaaactgttc
     3121 tataggcagt ggtcattgag tcagctttca gtgcattagg aagaagatgc ataggtgtca
     3181 actcttttct gacagcattt actagagaag agaaaaagct ggggactaca tcttcaagga
     3241 agggactttt tttggatgag cagttttgag tgtgtttgtc agttaaagag aggaattagg
     3301 ttagttttca tttgggaaaa attgtatata tatttaatgt aagttatcac attgcatctt
     3361 aaaaatattc ttatttaata catatatttc ctacatgtat atgtggtagc atgatagcaa
     3421 ataacatttg tttggtattt ccaaaggact ttcatgtaca ttgcctcatt ttacctttac
     3481 agctactctg aaatacacag gcattatccc ttttattcag ctgagaaaac tgagcttcat
     3541 tgaggtggag gtcaaaaatc acaaaatttg tgatgaatta agatttgaac atatgttttg
     3601 tgactccagt tttcctttca gattttaaaa ttaattaaag ggatcttcat tatactttta
     3661 ttgttaactt tttgttaaca taatttattc atacattcag tgaaaatttt gttgaggtac
     3721 tgggacaggt taaaaaatac agttgtagcc ctcaggatat ttaatatcca gtgaaaagtg
     3781 acagtcagta aaccaacaat ctcaatactt tgatatatgt tgtgaggttg tgataaccga
     3841 ttcttgttta gtttaattct atatctccct tagaccagtg ttaaatttaa ataaaacacc
     3901 tcattttttc caattcaggg aaggcactaa acataaagca taggatagaa atgttgaact
     3961 catccaaaat attattttgt ttaatgaaaa tgatgaagat taaggaatac ttccatgtat
     4021 tgagtaaggt tgataatttt ctaattcttc actgtgcatt attttgtttg aagttggtaa
     4081 atttggagta tcctgcagac acattttgct ttatgtacta caacattcta caaccaaata
     4141 aaaattattt tgattatctg a
//
