LOCUS       NM_153218               4028 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens laccase domain containing 1 (LACC1), transcript
            variant 2, mRNA.
ACCESSION   NM_153218
VERSION     NM_153218.4
KEYWORDS    RefSeq; MANE Select.
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 4028)
  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 4028)
  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 4028)
  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 4028)
  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 4028)
  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 4028)
  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 4028)
  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 4028)
  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 4028)
  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 4028)
  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 AK096044.1, DR001026.1,
            BC035749.1, AL512506.8 and BX538036.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_153218.3.
            
            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 (2) 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 :: SRR1660805.79526.1,
                                           SRR1660807.100613.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325686.7/ ENSP00000317619.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-621               AK096044.1         72-692
            622-623             DR001026.1         584-585
            624-1737            BC035749.1         664-1777
            1738-2289           AK096044.1         1809-2360
            2290-3335           AL512506.8         72924-73969
            3336-4028           BX538036.1         2140-2832
FEATURES             Location/Qualifiers
     source          1..4028
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..4028
                     /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..216
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            217..812
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             251..1543
                     /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 2;
                     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_694950.2"
                     /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            813..991
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1157
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..1383
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1384..1544
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..4028
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4004..4009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /note="hexamer: AATAAA"
     polyA_site      4028
                     /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 aggcgggtga tttatttggc ataaaagtat
      241 tctttcaagg atggcagaag ctgttttgat tgatcttttt ggtttgaaat tgaactctca
      301 aaaaaactgc catcagacat tactgaagac tttgaatgct gtccaatacc accatgctgc
      361 caaggccaag tttctctgta taatgtgttg cagtaacatc agctatgaaa gggatggaga
      421 acaagataat tgtgaaatag aaacaagcaa tggattatca gctctcttgg aagaatttga
      481 gattgttagc tgtcccagca tggctgccac tttgtatacc attaaacaga aaattgatga
      541 aaaaaatctg agcagcatta aggtaattgt acccaggcac aggaagacat taatgaaagc
      601 ttttattgat caactcttca ctgatgttta caattttgaa tttgaagatt tgcaagtgac
      661 ttttagggga gggcttttta aacagtccat tgaaataaac gtaatcacag ctcaagaact
      721 aagaggaatt cagaatgaaa tagaaacatt tttgagaagt ctgccagcac tgagaggaaa
      781 attaactatt atcacttctt ctttgatccc agatattttc atacatggat ttactacaag
      841 aacaggtggg atatcttata taccaactct tagctcattc aatctcttca gtagttccaa
      901 acggagagat cccaaggtag tggttcaaga aaatctgcgt aggttggcga atgctgcagg
      961 atttaatgtg gagaaatttt accgaataaa gactcatcat tccaatgaca tctggattat
     1021 gggaagaaag gagcctgact cttatgatgg aataaccaca aatcagagag gagtcacaat
     1081 agcagctctt ggtgcagact gtataccgat agtttttgca gatccagtca aaaaagcatg
     1141 tggggttgct cacgctggtt ggaaaggtac tttgttgggt gttgctatgg ctacagtgaa
     1201 tgctatgata gcagaatatg gctgcagttt ggaagacatt gttgttgtac ttggaccttc
     1261 agtaggacct tgctgtttta ctcttccaag ggaatcagca gaggcatttc ataatcttca
     1321 tcctgcatgt gtacaactat ttgattcacc aaatccctgt atcgacatcc gtaaagccac
     1381 aaggattctt ctagaacagg gaggaattct tccacagaat attcaggacc agaaccaaga
     1441 tctcaacctc tgtacatctt gccatcctga caagtttttc tcccatgtcc gagatggcct
     1501 taattttggt acacagattg gcttcatatc aattaaagaa tgagatactt gactggattt
     1561 ttgtataact gcttcctgcc tccttccaaa ctgactgcaa gagagaaatt tagctgtttg
     1621 atttacttaa aaccaaatgg attacaatgg ataattcatc ttttgggtat atttttacta
     1681 ttattcaaag ccaaatgatt ttcatttaat tgtaataata actgacaaaa atcagtatgt
     1741 tgtagctaat atgttttatg catgagaatt attcttaaag tttgttctcc ctgtttatta
     1801 cacagatcag gaatagattt gttcagttca gtatttattg gataccctct attggtcagg
     1861 cattgtgtta agcatatgtg aatcaaaatg aacacaactt tttcctttga gtctgataca
     1921 gtgaaggaga taaacacttc tacaacttaa atttaatttt aatagcagta gaagagaaca
     1981 taaggaatag aggttaattt tacccagaag caggatagag aaaatattac agagaaaatc
     2041 acatatcaca tgggctcgaa agatgtagag gtttttgaca aatgaagaac aaccataaca
     2101 ggtagaggga acaccatgaa ccagggcatg aaactgaaag tgcataacat attctagaga
     2161 gagaagggtg tgggcatgag ttagggctgg aaaaacaggt tggaaacaga taagtaaggg
     2221 tctcaaatgc aatgtcaaag agcttgcagt ttattttcca ggcaatgagt aggcagccaa
     2281 aaaaaaaaaa gtaaggatgt tttttttttt tttcccatgg catcatattt aagaggatgg
     2341 atttaaattg tgtgagacca aagcatagag actagataag aggcgatcaa aatatttcaa
     2401 aaagaaataa tgaagatcca atgaaggaag tggaaattaa aatagggaag agagtagatg
     2461 gattagagag acatttaaga gatggaatca atagatcctg ttactagata atggaagtaa
     2521 gaggtgagga agagtggaaa agtcattaat gactctaaga tttctgcttg gctgcttacc
     2581 aagattggca acaaagggag ggagaaggtt tggaaaaaga gagaaggata atgagtttga
     2641 ctttacatag aatgaagggc atccagatag aaatctttgg ttaataatta gaaatataga
     2701 cctagaaatt aggaggaaac ctgagacaga gacaaatatt tcaaagctta caatacagag
     2761 atgatacctg attctattgg agcaggtttg atcatctagg cagaaattag gatgagaaaa
     2821 aaggagatcc aataatacaa ccttatagtc acagaagtaa gaaaaaaagg gtagttgttt
     2881 tgaagaagcc aggataggtg tggaaagtac tcaaaaagaa atcttcaggg ataaaataaa
     2941 gtgataattt aaaagaaatc aatggattaa acatattgaa actgttctat aggcagtggt
     3001 cattgagtca gctttcagtg cattaggaag aagatgcata ggtgtcaact cttttctgac
     3061 agcatttact agagaagaga aaaagctggg gactacatct tcaaggaagg gacttttttt
     3121 ggatgagcag ttttgagtgt gtttgtcagt taaagagagg aattaggtta gttttcattt
     3181 gggaaaaatt gtatatatat ttaatgtaag ttatcacatt gcatcttaaa aatattctta
     3241 tttaatacat atatttccta catgtatatg tggtagcatg atagcaaata acatttgttt
     3301 ggtatttcca aaggactttc atgtacattg cctcatttta cctttacagc tactctgaaa
     3361 tacacaggca ttatcccttt tattcagctg agaaaactga gcttcattga ggtggaggtc
     3421 aaaaatcaca aaatttgtga tgaattaaga tttgaacata tgttttgtga ctccagtttt
     3481 cctttcagat tttaaaatta attaaaggga tcttcattat acttttattg ttaacttttt
     3541 gttaacataa tttattcata cattcagtga aaattttgtt gaggtactgg gacaggttaa
     3601 aaaatacagt tgtagccctc aggatattta atatccagtg aaaagtgaca gtcagtaaac
     3661 caacaatctc aatactttga tatatgttgt gaggttgtga taaccgattc ttgtttagtt
     3721 taattctata tctcccttag accagtgtta aatttaaata aaacacctca ttttttccaa
     3781 ttcagggaag gcactaaaca taaagcatag gatagaaatg ttgaactcat ccaaaatatt
     3841 attttgttta atgaaaatga tgaagattaa ggaatacttc catgtattga gtaaggttga
     3901 taattttcta attcttcact gtgcattatt ttgtttgaag ttggtaaatt tggagtatcc
     3961 tgcagacaca ttttgcttta tgtactacaa cattctacaa ccaaataaaa attattttga
     4021 ttatctga
//
