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

Gene ID: 144811, updated on 13-May-2022

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; AllianceGenome:HGNC:26789
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
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Genomic context

See LACC1 in Genome Data Viewer
Location:
13q14.11
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (43879178..43893932)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (43098039..43112848)
105.20220307 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 LOC124903166 Neighboring gene coiled-coil domain containing 122 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
Juvenile arthritis due to defect in LACC1
MedGen: CN263340 OMIM: 618795 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
EBI GWAS Catalog
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
EBI GWAS Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
Genomewide association study of leprosy.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

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_011533237.1
XP_024305087.1
XP_047286055.1
XP_047286056.1
XP_047286057.1
XP_047286058.1
XP_047286059.1
XP_047286060.1
XP_047286061.1
XP_047286062.1
XP_047286063.1
XP_047286064.1
XP_047286065.1

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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047430102.1XP_047286058.1  purine nucleoside phosphorylase LACC1 isoform X2

  2. XM_047430104.1XP_047286060.1  purine nucleoside phosphorylase LACC1 isoform X2

  3. XM_047430106.1XP_047286062.1  purine nucleoside phosphorylase LACC1 isoform X3

  4. XM_024449319.2XP_024305087.1  purine nucleoside phosphorylase LACC1 isoform X3

    Conserved Domains (1) summary
    cl00650
    Location:218303
    Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
  5. XM_047430101.1XP_047286057.1  purine nucleoside phosphorylase LACC1 isoform X2

  6. XM_047430099.1XP_047286055.1  purine nucleoside phosphorylase LACC1 isoform X1

  7. XM_011534935.4XP_011533237.1  purine nucleoside phosphorylase LACC1 isoform X3

    Conserved Domains (1) summary
    cl00650
    Location:218303
    Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
  8. XM_047430108.1XP_047286064.1  purine nucleoside phosphorylase LACC1 isoform X3

  9. XM_047430103.1XP_047286059.1  purine nucleoside phosphorylase LACC1 isoform X2

  10. XM_047430105.1XP_047286061.1  purine nucleoside phosphorylase LACC1 isoform X2

  11. XM_047430100.1XP_047286056.1  purine nucleoside phosphorylase LACC1 isoform X1

  12. XM_047430107.1XP_047286063.1  purine nucleoside phosphorylase LACC1 isoform X3

  13. XM_047430109.1XP_047286065.1  purine nucleoside phosphorylase LACC1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    43098039..43112848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)