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    LACC1 laccase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 144811, updated on 4-Jul-2021

    Summary

    Official Symbol
    LACC1provided by HGNC
    Official Full Name
    laccase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26789
    See related
    Ensembl:ENSG00000179630 MIM:613409
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAMIN; JUVAR; C13orf31
    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]
    Expression
    Ubiquitous expression in testis (RPKM 5.5), small intestine (RPKM 5.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    See LACC1 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (43879178..43893932)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (44453314..44468068)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ecto-NOX disulfide-thiol exchanger 1 Neighboring gene ENOX1 antisense RNA 2 Neighboring gene uncharacterized LOC105370181 Neighboring gene coiled-coil domain containing 122 Neighboring gene uncharacterized LOC107984576 Neighboring gene uncharacterized LOC105370182 Neighboring gene diacylglycerol kinase zeta pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    GeneReviews: Not available
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    GeneReviews: Not available
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    GeneReviews: Not available
    Genomewide association study of leprosy.
    GeneReviews: Not available
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    GeneReviews: Not available
    Juvenile arthritis due to defect in LACC1
    MedGen: C3495559 OMIM: 618795 GeneReviews: Not available
    not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Clone Names

    • FLJ38725, DKFZp686D11119

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    purine nucleoside phosphorylase LACC1
    Names
    S-methyl-5'-thioadenosine phosphorylase LACC1
    adenosine deaminase LACC1
    fatty acid metabolism-immunity nexus
    guanosine phosphorylase LACC1
    laccase (multicopper oxidoreductase) domain containing 1
    laccase domain-containing protein 1
    NP_001121775.1
    NP_001337567.1
    NP_001337568.1
    NP_001337569.1
    NP_001337570.1
    NP_001337571.1
    NP_001337572.1
    NP_001337573.1
    NP_001337574.1
    NP_001337575.1
    NP_001337576.1
    NP_001337577.1
    NP_694950.2
    XP_006719829.1
    XP_011533237.1
    XP_024305087.1
    XP_024305088.1
    XP_024305089.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053160.1 RefSeqGene

      Range
      5345..20099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128303.2NP_001121775.1  purine nucleoside phosphorylase LACC1 isoform 1

      See identical proteins and their annotated locations for NP_001121775.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1-7 encode the same isoform (1).
      Source sequence(s)
      AK096044, AL512506, BC035749, BX503941, BX538036, DA332005
      Consensus CDS
      CCDS9391.1
      UniProtKB/Swiss-Prot
      Q8IV20
      Related
      ENSP00000391747.1, ENST00000441843.5
      Conserved Domains (1) summary
      pfam02578
      Location:218426
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    2. NM_001350638.2NP_001337567.1  purine nucleoside phosphorylase LACC1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same isoform (1).
      Source sequence(s)
      AL512506, BX538036
      Consensus CDS
      CCDS9391.1
      Conserved Domains (1) summary
      pfam02578
      Location:218426
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    3. NM_001350639.2NP_001337568.1  purine nucleoside phosphorylase LACC1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same isoform (1).
      Source sequence(s)
      AL512506, BX538036
      Consensus CDS
      CCDS9391.1
      Conserved Domains (1) summary
      pfam02578
      Location:218426
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    4. NM_001350640.2NP_001337569.1  purine nucleoside phosphorylase LACC1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same isoform (1).
      Source sequence(s)
      AL512506, BX538036
      Consensus CDS
      CCDS9391.1
      Conserved Domains (1) summary
      pfam02578
      Location:218426
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    5. NM_001350641.2NP_001337570.1  purine nucleoside phosphorylase LACC1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same isoform (1).
      Source sequence(s)
      AL512506, BX538036
      Consensus CDS
      CCDS9391.1
      Conserved Domains (1) summary
      pfam02578
      Location:218426
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    6. NM_001350642.2NP_001337571.1  purine nucleoside phosphorylase LACC1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same isoform (1).
      Source sequence(s)
      AL512506, BX538036
      Consensus CDS
      CCDS9391.1
      Conserved Domains (1) summary
      pfam02578
      Location:218426
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    7. NM_001350643.2NP_001337572.1  purine nucleoside phosphorylase LACC1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL512506, BX538036
      Conserved Domains (1) summary
      pfam02578
      Location:218378
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    8. NM_001350644.2NP_001337573.1  purine nucleoside phosphorylase LACC1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) 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).
      Source sequence(s)
      AL512506, BX538036
      Conserved Domains (1) summary
      pfam02578
      Location:2170
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    9. NM_001350645.2NP_001337574.1  purine nucleoside phosphorylase LACC1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) 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).
      Source sequence(s)
      AL512506, BX538036
      Conserved Domains (1) summary
      pfam02578
      Location:2170
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    10. NM_001350646.2NP_001337575.1  purine nucleoside phosphorylase LACC1 isoform 3

      Status: REVIEWED

      Description
      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).
      Source sequence(s)
      AL512506, BX538036
      Conserved Domains (1) summary
      pfam02578
      Location:2170
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    11. NM_001350647.2NP_001337576.1  purine nucleoside phosphorylase LACC1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) 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).
      Source sequence(s)
      AL512506, BX538036
      Conserved Domains (1) summary
      pfam02578
      Location:2170
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    12. NM_001350648.2NP_001337577.1  purine nucleoside phosphorylase LACC1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR, initiates translation at a downstream start codon, and lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL512506, BX538036
      Conserved Domains (1) summary
      pfam02578
      Location:2122
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    13. NM_153218.4NP_694950.2  purine nucleoside phosphorylase LACC1 isoform 1

      See identical proteins and their annotated locations for NP_694950.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same isoform (1).
      Source sequence(s)
      AK096044, AL512506, BC035749, BX538036, DR001026
      Consensus CDS
      CCDS9391.1
      UniProtKB/Swiss-Prot
      Q8IV20
      Related
      ENSP00000317619.5, ENST00000325686.7
      Conserved Domains (1) summary
      pfam02578
      Location:218426
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      43879178..43893932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449319.1XP_024305087.1  purine nucleoside phosphorylase LACC1 isoform X2

      Conserved Domains (1) summary
      cl00650
      Location:218303
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    2. XM_011534935.3XP_011533237.1  purine nucleoside phosphorylase LACC1 isoform X2

      Conserved Domains (1) summary
      cl00650
      Location:218303
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    3. XM_006719766.3XP_006719829.1  purine nucleoside phosphorylase LACC1 isoform X1

      See identical proteins and their annotated locations for XP_006719829.1

      UniProtKB/Swiss-Prot
      Q8IV20
      Conserved Domains (1) summary
      pfam02578
      Location:218426
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    4. XM_024449320.1XP_024305088.1  purine nucleoside phosphorylase LACC1 isoform X3

      Conserved Domains (1) summary
      pfam02578
      Location:2170
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
    5. XM_024449321.1XP_024305089.1  purine nucleoside phosphorylase LACC1 isoform X3

      Conserved Domains (1) summary
      pfam02578
      Location:2170
      Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
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