LOCUS       NM_001128303            4394 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 1, mRNA.
ACCESSION   NM_001128303
VERSION     NM_001128303.2
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 4394)
  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 4394)
  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 4394)
  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 4394)
  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 4394)
  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 4394)
  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 4394)
  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 4394)
  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 4394)
  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 4394)
  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, DA332005.1,
            BX503941.1, BC035749.1, AK096044.1 and BX538036.1.
            
            On Apr 21, 2017 this sequence version replaced NM_001128303.1.
            
            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 (1) encodes the longest isoform
            (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 :: SRR1660807.11134.1,
                                           SRR1660803.244274.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-106               AL512506.8         59908-60013
            107-380             DA332005.1         1-274
            381-967             BX503941.1         2-588
            968-2078            BC035749.1         667-1777
            2079-2630           AK096044.1         1809-2360
            2631-3676           AL512506.8         72924-73969
            3677-4394           BX538036.1         2140-2857
FEATURES             Location/Qualifiers
     source          1..4394
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..4394
                     /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..557
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            558..1153
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             592..1884
                     /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 1;
                     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_001121775.1"
                     /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            1154..1332
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1498
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1499..1724
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1725..1885
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1886..4369
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4345..4350
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      4369
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="major polyA site"
ORIGIN      
        1 ccggcctcac gcgacccacc attcccgccg ccccctcacg gtgcccgccg ttcccgccgc
       61 ccggctttct aaccgggccc ctagttcccc gccccgtgcc ctctggagac ctgcagctcc
      121 tgccgccctg cgcccgctcc cagggcccgt cgttccgccg ccctatccct cctcaagggg
      181 cccctagctg cctcctcgcg accctttccg gactcggcct gcccactcct gcccgctaac
      241 ccgcctggct cccgggcgag agccctcgcg cggctctggt tcctgttcct ctaacgccgc
      301 cggggctgcg ggatgccgac tccgcggacc gcccagaccc ggaactgctg aggcagcagc
      361 gggctcgcgg cgcttggctc atcccgggat tccccagctc tcgcgctggg cccgccgcgt
      421 tcgcaccaag cacgccaggc ggccctggcc tacctccctc ccgcctcccg gcagctggca
      481 cgagggaacc tggccgtcag gtttcccctg ggatcctggg acggtatcag gcggggaatc
      541 tgtgcggccg cggcgaggtg atttatttgg cataaaagta ttctttcaag gatggcagaa
      601 gctgttttga ttgatctttt tggtttgaaa ttgaactctc aaaaaaactg ccatcagaca
      661 ttactgaaga ctttgaatgc tgtccaatac caccatgctg ccaaggccaa gtttctctgt
      721 ataatgtgtt gcagtaacat cagctatgaa agggatggag aacaagataa ttgtgaaata
      781 gaaacaagca atggattatc agctctcttg gaagaatttg agattgttag ctgtcccagc
      841 atggctgcca ctttgtatac cattaaacag aaaattgatg aaaaaaatct gagcagcatt
      901 aaggtaattg tacccaggca caggaagaca ttaatgaaag cttttattga tcaactcttc
      961 actgatgttt acaattttga atttgaagat ttgcaagtga cttttagggg agggcttttt
     1021 aaacagtcca ttgaaataaa cgtaatcaca gctcaagaac taagaggaat tcagaatgaa
     1081 atagaaacat ttttgagaag tctgccagca ctgagaggaa aattaactat tatcacttct
     1141 tctttgatcc cagatatttt catacatgga tttactacaa gaacaggtgg gatatcttat
     1201 ataccaactc ttagctcatt caatctcttc agtagttcca aacggagaga tcccaaggta
     1261 gtggttcaag aaaatctgcg taggttggcg aatgctgcag gatttaatgt ggagaaattt
     1321 taccgaataa agactcatca ttccaatgac atctggatta tgggaagaaa ggagcctgac
     1381 tcttatgatg gaataaccac aaatcagaga ggagtcacaa tagcagctct tggtgcagac
     1441 tgtataccga tagtttttgc agatccagtc aaaaaagcat gtggggttgc tcacgctggt
     1501 tggaaaggta ctttgttggg tgttgctatg gctacagtga atgctatgat agcagaatat
     1561 ggctgcagtt tggaagacat tgttgttgta cttggacctt cagtaggacc ttgctgtttt
     1621 actcttccaa gggaatcagc agaggcattt cataatcttc atcctgcatg tgtacaacta
     1681 tttgattcac caaatccctg tatcgacatc cgtaaagcca caaggattct tctagaacag
     1741 ggaggaattc ttccacagaa tattcaggac cagaaccaag atctcaacct ctgtacatct
     1801 tgccatcctg acaagttttt ctcccatgtc cgagatggcc ttaattttgg tacacagatt
     1861 ggcttcatat caattaaaga atgagatact tgactggatt tttgtataac tgcttcctgc
     1921 ctccttccaa actgactgca agagagaaat ttagctgttt gatttactta aaaccaaatg
     1981 gattacaatg gataattcat cttttgggta tatttttact attattcaaa gccaaatgat
     2041 tttcatttaa ttgtaataat aactgacaaa aatcagtatg ttgtagctaa tatgttttat
     2101 gcatgagaat tattcttaaa gtttgttctc cctgtttatt acacagatca ggaatagatt
     2161 tgttcagttc agtatttatt ggataccctc tattggtcag gcattgtgtt aagcatatgt
     2221 gaatcaaaat gaacacaact ttttcctttg agtctgatac agtgaaggag ataaacactt
     2281 ctacaactta aatttaattt taatagcagt agaagagaac ataaggaata gaggttaatt
     2341 ttacccagaa gcaggataga gaaaatatta cagagaaaat cacatatcac atgggctcga
     2401 aagatgtaga ggtttttgac aaatgaagaa caaccataac aggtagaggg aacaccatga
     2461 accagggcat gaaactgaaa gtgcataaca tattctagag agagaagggt gtgggcatga
     2521 gttagggctg gaaaaacagg ttggaaacag ataagtaagg gtctcaaatg caatgtcaaa
     2581 gagcttgcag tttattttcc aggcaatgag taggcagcca aaaaaaaaaa agtaaggatg
     2641 tttttttttt ttttcccatg gcatcatatt taagaggatg gatttaaatt gtgtgagacc
     2701 aaagcataga gactagataa gaggcgatca aaatatttca aaaagaaata atgaagatcc
     2761 aatgaaggaa gtggaaatta aaatagggaa gagagtagat ggattagaga gacatttaag
     2821 agatggaatc aatagatcct gttactagat aatggaagta agaggtgagg aagagtggaa
     2881 aagtcattaa tgactctaag atttctgctt ggctgcttac caagattggc aacaaaggga
     2941 gggagaaggt ttggaaaaag agagaaggat aatgagtttg actttacata gaatgaaggg
     3001 catccagata gaaatctttg gttaataatt agaaatatag acctagaaat taggaggaaa
     3061 cctgagacag agacaaatat ttcaaagctt acaatacaga gatgatacct gattctattg
     3121 gagcaggttt gatcatctag gcagaaatta ggatgagaaa aaaggagatc caataataca
     3181 accttatagt cacagaagta agaaaaaaag ggtagttgtt ttgaagaagc caggataggt
     3241 gtggaaagta ctcaaaaaga aatcttcagg gataaaataa agtgataatt taaaagaaat
     3301 caatggatta aacatattga aactgttcta taggcagtgg tcattgagtc agctttcagt
     3361 gcattaggaa gaagatgcat aggtgtcaac tcttttctga cagcatttac tagagaagag
     3421 aaaaagctgg ggactacatc ttcaaggaag ggactttttt tggatgagca gttttgagtg
     3481 tgtttgtcag ttaaagagag gaattaggtt agttttcatt tgggaaaaat tgtatatata
     3541 tttaatgtaa gttatcacat tgcatcttaa aaatattctt atttaataca tatatttcct
     3601 acatgtatat gtggtagcat gatagcaaat aacatttgtt tggtatttcc aaaggacttt
     3661 catgtacatt gcctcatttt acctttacag ctactctgaa atacacaggc attatccctt
     3721 ttattcagct gagaaaactg agcttcattg aggtggaggt caaaaatcac aaaatttgtg
     3781 atgaattaag atttgaacat atgttttgtg actccagttt tcctttcaga ttttaaaatt
     3841 aattaaaggg atcttcatta tacttttatt gttaactttt tgttaacata atttattcat
     3901 acattcagtg aaaattttgt tgaggtactg ggacaggtta aaaaatacag ttgtagccct
     3961 caggatattt aatatccagt gaaaagtgac agtcagtaaa ccaacaatct caatactttg
     4021 atatatgttg tgaggttgtg ataaccgatt cttgtttagt ttaattctat atctccctta
     4081 gaccagtgtt aaatttaaat aaaacacctc attttttcca attcagggaa ggcactaaac
     4141 ataaagcata ggatagaaat gttgaactca tccaaaatat tattttgttt aatgaaaatg
     4201 atgaagatta aggaatactt ccatgtattg agtaaggttg ataattttct aattcttcac
     4261 tgtgcattat tttgtttgaa gttggtaaat ttggagtatc ctgcagacac attttgcttt
     4321 atgtactaca acattctaca accaaataaa aattattttg attatctgaa aaaaaaaaaa
     4381 aaaaaaaaaa aaaa
//
