LOCUS       NM_001350640            3983 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 5, mRNA.
ACCESSION   NM_001350640
VERSION     NM_001350640.2
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 3983)
  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 3983)
  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 3983)
  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 3983)
  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 3983)
  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 3983)
  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 3983)
  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 3983)
  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 3983)
  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 3983)
  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_001350640.1.
            
            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 (5) 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 :: SRR1660807.86893.1,
                                           SRR1660803.198518.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-171               AL512506.8         60303-60473
            172-767             AL512506.8         61682-62277
            768-946             AL512506.8         62915-63093
            947-1112            AL512506.8         64501-64666
            1113-1338           AL512506.8         69487-69712
            1339-1499           AL512506.8         70844-71004
            1500-3290           AL512506.8         72179-73969
            3291-3983           BX538036.1         2140-2832
FEATURES             Location/Qualifiers
     source          1..3983
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..3983
                     /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..171
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            172..767
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             206..1498
                     /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 5;
                     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_001337569.1"
                     /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            768..946
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1112
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1338
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1499
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..3983
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3959..3964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      3983
                     /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 aggtaggtga ggtgatttat
      181 ttggcataaa agtattcttt caaggatggc agaagctgtt ttgattgatc tttttggttt
      241 gaaattgaac tctcaaaaaa actgccatca gacattactg aagactttga atgctgtcca
      301 ataccaccat gctgccaagg ccaagtttct ctgtataatg tgttgcagta acatcagcta
      361 tgaaagggat ggagaacaag ataattgtga aatagaaaca agcaatggat tatcagctct
      421 cttggaagaa tttgagattg ttagctgtcc cagcatggct gccactttgt ataccattaa
      481 acagaaaatt gatgaaaaaa atctgagcag cattaaggta attgtaccca ggcacaggaa
      541 gacattaatg aaagctttta ttgatcaact cttcactgat gtttacaatt ttgaatttga
      601 agatttgcaa gtgactttta ggggagggct ttttaaacag tccattgaaa taaacgtaat
      661 cacagctcaa gaactaagag gaattcagaa tgaaatagaa acatttttga gaagtctgcc
      721 agcactgaga ggaaaattaa ctattatcac ttcttctttg atcccagata ttttcataca
      781 tggatttact acaagaacag gtgggatatc ttatatacca actcttagct cattcaatct
      841 cttcagtagt tccaaacgga gagatcccaa ggtagtggtt caagaaaatc tgcgtaggtt
      901 ggcgaatgct gcaggattta atgtggagaa attttaccga ataaagactc atcattccaa
      961 tgacatctgg attatgggaa gaaaggagcc tgactcttat gatggaataa ccacaaatca
     1021 gagaggagtc acaatagcag ctcttggtgc agactgtata ccgatagttt ttgcagatcc
     1081 agtcaaaaaa gcatgtgggg ttgctcacgc tggttggaaa ggtactttgt tgggtgttgc
     1141 tatggctaca gtgaatgcta tgatagcaga atatggctgc agtttggaag acattgttgt
     1201 tgtacttgga ccttcagtag gaccttgctg ttttactctt ccaagggaat cagcagaggc
     1261 atttcataat cttcatcctg catgtgtaca actatttgat tcaccaaatc cctgtatcga
     1321 catccgtaaa gccacaagga ttcttctaga acagggagga attcttccac agaatattca
     1381 ggaccagaac caagatctca acctctgtac atcttgccat cctgacaagt ttttctccca
     1441 tgtccgagat ggccttaatt ttggtacaca gattggcttc atatcaatta aagaatgaga
     1501 tacttgactg gatttttgta taactgcttc ctgcctcctt ccaaactgac tgcaagagag
     1561 aaatttagct gtttgattta cttaaaacca aatggattac aatggataat tcatcttttg
     1621 ggtatatttt tactattatt caaagccaaa tgattttcat ttaattgtaa taataactga
     1681 caaaaatcag tatgttgtag ctaatatgtt ttatgcatga gaattattct taaagtttgt
     1741 tctccctgtt tattacacag atcaggaata gatttgttca gttcagtatt tattggatac
     1801 cctctattgg tcaggcattg tgttaagcat atgtgaatca aaatgaacac aactttttcc
     1861 tttgagtctg atacagtgaa ggagataaac acttctacaa cttaaattta attttaatag
     1921 cagtagaaga gaacataagg aatagaggtt aattttaccc agaagcagga tagagaaaat
     1981 attacagaga aaatcacata tcacatgggc tcgaaagatg tagaggtttt tgacaaatga
     2041 agaacaacca taacaggtag agggaacacc atgaaccagg gcatgaaact gaaagtgcat
     2101 aacatattct agagagagaa gggtgtgggc atgagttagg gctggaaaaa caggttggaa
     2161 acagataagt aagggtctca aatgcaatgt caaagagctt gcagtttatt ttccaggcaa
     2221 tgagtaggca gccaaaaaaa aaaaagtaag gatgtttttt ttttttttcc catggcatca
     2281 tatttaagag gatggattta aattgtgtga gaccaaagca tagagactag ataagaggcg
     2341 atcaaaatat ttcaaaaaga aataatgaag atccaatgaa ggaagtggaa attaaaatag
     2401 ggaagagagt agatggatta gagagacatt taagagatgg aatcaataga tcctgttact
     2461 agataatgga agtaagaggt gaggaagagt ggaaaagtca ttaatgactc taagatttct
     2521 gcttggctgc ttaccaagat tggcaacaaa gggagggaga aggtttggaa aaagagagaa
     2581 ggataatgag tttgacttta catagaatga agggcatcca gatagaaatc tttggttaat
     2641 aattagaaat atagacctag aaattaggag gaaacctgag acagagacaa atatttcaaa
     2701 gcttacaata cagagatgat acctgattct attggagcag gtttgatcat ctaggcagaa
     2761 attaggatga gaaaaaagga gatccaataa tacaacctta tagtcacaga agtaagaaaa
     2821 aaagggtagt tgttttgaag aagccaggat aggtgtggaa agtactcaaa aagaaatctt
     2881 cagggataaa ataaagtgat aatttaaaag aaatcaatgg attaaacata ttgaaactgt
     2941 tctataggca gtggtcattg agtcagcttt cagtgcatta ggaagaagat gcataggtgt
     3001 caactctttt ctgacagcat ttactagaga agagaaaaag ctggggacta catcttcaag
     3061 gaagggactt tttttggatg agcagttttg agtgtgtttg tcagttaaag agaggaatta
     3121 ggttagtttt catttgggaa aaattgtata tatatttaat gtaagttatc acattgcatc
     3181 ttaaaaatat tcttatttaa tacatatatt tcctacatgt atatgtggta gcatgatagc
     3241 aaataacatt tgtttggtat ttccaaagga ctttcatgta cattgcctca ttttaccttt
     3301 acagctactc tgaaatacac aggcattatc ccttttattc agctgagaaa actgagcttc
     3361 attgaggtgg aggtcaaaaa tcacaaaatt tgtgatgaat taagatttga acatatgttt
     3421 tgtgactcca gttttccttt cagattttaa aattaattaa agggatcttc attatacttt
     3481 tattgttaac tttttgttaa cataatttat tcatacattc agtgaaaatt ttgttgaggt
     3541 actgggacag gttaaaaaat acagttgtag ccctcaggat atttaatatc cagtgaaaag
     3601 tgacagtcag taaaccaaca atctcaatac tttgatatat gttgtgaggt tgtgataacc
     3661 gattcttgtt tagtttaatt ctatatctcc cttagaccag tgttaaattt aaataaaaca
     3721 cctcattttt tccaattcag ggaaggcact aaacataaag cataggatag aaatgttgaa
     3781 ctcatccaaa atattatttt gtttaatgaa aatgatgaag attaaggaat acttccatgt
     3841 attgagtaag gttgataatt ttctaattct tcactgtgca ttattttgtt tgaagttggt
     3901 aaatttggag tatcctgcag acacattttg ctttatgtac tacaacattc tacaaccaaa
     3961 taaaaattat tttgattatc tga
//
