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

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: mouse all
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Genomic context

Location:: 13q14.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (43879178..43893932)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (43098039..43112848)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (44453314..44468068)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Monogenic variants in Laccase domain-containing 1 (LACC1) as the cause of juvenile arthritis].
Title: [Monogenic variants in Laccase domain-containing 1 (LACC1) as the cause of juvenile arthritis].
LACC1: A critical involvement in macrophage immunometabolism.
Title: LACC1: A critical involvement in macrophage immunometabolism.
LACC1 bridges NOS2 and polyamine metabolism in inflammatory macrophages.
Title: LACC1 bridges NOS2 and polyamine metabolism in inflammatory macrophages.
[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 ?
Title: [Macrophage involvement in juvenile arthritis onset: LACC1 bridges the gap?].
A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity.
Title: A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity.
LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.
Title: LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.
LACC1 Required for NOD2-Induced, ER Stress-Mediated Innate Immune Outcomes in Human Macrophages and LACC1 Risk Variants Modulate These Outcomes.
Title: LACC1 Required for NOD2-Induced, ER Stress-Mediated Innate Immune Outcomes in Human Macrophages and LACC1 Risk Variants Modulate These Outcomes.
Our findings confirm that LACC1 variants can be responsible for the recessive form of juvenile arthritis.
Title: LACC1 Gene Defects in Familial Form of Juvenile Arthritis.
mRNA expression levels of both HIF1A and LACC1 were upregulated in the skin lesions of individuals with leprosy.
Title: Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese.
LACC1 is critical for amplifying PRR-induced outcomes, an effect that is attenuated by the LACC1 disease-risk variant.
Title: Human LACC1 increases innate receptor-induced responses and a LACC1 disease-risk variant modulates these outcomes.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Juvenile arthritis due to defect in LACC1 MedGen: CN263340 OMIM: 618795 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2'-deoxyadenosine deaminase activity	IEA Inferred from Electronic Annotation more info
enables S-methyl-5-thioadenosine phosphorylase activity	IDA Inferred from Direct Assay more info	PubMed
enables adenosine deaminase activity	IDA Inferred from Direct Assay more info	PubMed
enables copper ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables guanosine phosphorylase activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables oxidoreductase activity, acting on diphenols and related substances as donors, oxygen as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables purine-nucleoside phosphorylase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in pattern recognition receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytokine production involved in immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cellular pH	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of purine nucleotide metabolic process	ISS Inferred from Sequence or Structural Similarity more info

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

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Preferred Names: purine nucleoside phosphorylase LACC1

Names: S-methyl-5'-thioadenosine phosphorylase LACC1; adenosine deaminase LACC1; fatty acid metabolism-immunity nexus; guanosine phosphorylase LACC1; isocyanic acid synthase; laccase (multicopper oxidoreductase) domain containing 1; laccase domain-containing protein 1

NP_001121775.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337567.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337568.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337569.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337570.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337571.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337572.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337573.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337574.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337575.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337576.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_001337577.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NP_694950.2

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_011533237.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_024305087.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286055.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286056.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286057.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286058.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286059.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286060.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286061.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286062.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286063.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286064.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_047286065.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230090.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230091.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230092.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230093.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230094.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230095.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230096.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230097.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230098.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230099.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230100.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230101.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

XP_054230102.1

EC 2.4.2.1

EC 2.4.2.28

EC 3.5.4.4

NCBI Reference Sequences (RefSeq)

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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

NG_053160.1 RefSeqGene

Range

6071..20099

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001128303.2 → NP_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

A2A3Z6, Q8IV20, Q8N8X5

Related

ENSP00000391747.1, ENST00000441843.5

Conserved Domains (1) summary

pfam02578
Location:218 → 426

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350638.2 → NP_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

UniProtKB/Swiss-Prot

A2A3Z6, Q8IV20, Q8N8X5

Conserved Domains (1) summary

pfam02578
Location:218 → 426

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350639.2 → NP_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

UniProtKB/Swiss-Prot

A2A3Z6, Q8IV20, Q8N8X5

Conserved Domains (1) summary

pfam02578
Location:218 → 426

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350640.2 → NP_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

UniProtKB/Swiss-Prot

A2A3Z6, Q8IV20, Q8N8X5

Conserved Domains (1) summary

pfam02578
Location:218 → 426

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350641.2 → NP_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

UniProtKB/Swiss-Prot

A2A3Z6, Q8IV20, Q8N8X5

Conserved Domains (1) summary

pfam02578
Location:218 → 426

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350642.2 → NP_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

UniProtKB/Swiss-Prot

A2A3Z6, Q8IV20, Q8N8X5

Conserved Domains (1) summary

pfam02578
Location:218 → 426

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350643.2 → NP_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:218 → 378

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350644.2 → NP_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:2 → 170

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350645.2 → NP_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:2 → 170

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350646.2 → NP_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:2 → 170

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350647.2 → NP_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:2 → 170

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_001350648.2 → NP_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:2 → 122

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
NM_153218.4 → NP_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

A2A3Z6, Q8IV20, Q8N8X5

Related

ENSP00000317619.5, ENST00000325686.7

Conserved Domains (1) summary

pfam02578
Location:218 → 426

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

43879178..43893932

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430102.1 → XP_047286058.1 purine nucleoside phosphorylase LACC1 isoform X2
XM_047430104.1 → XP_047286060.1 purine nucleoside phosphorylase LACC1 isoform X2
XM_047430106.1 → XP_047286062.1 purine nucleoside phosphorylase LACC1 isoform X3
XM_024449319.2 → XP_024305087.1 purine nucleoside phosphorylase LACC1 isoform X3

Conserved Domains (1) summary

cl00650
Location:218 → 303

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
XM_047430101.1 → XP_047286057.1 purine nucleoside phosphorylase LACC1 isoform X2
XM_047430099.1 → XP_047286055.1 purine nucleoside phosphorylase LACC1 isoform X1

UniProtKB/Swiss-Prot

A2A3Z6, Q8IV20, Q8N8X5
XM_011534935.4 → XP_011533237.1 purine nucleoside phosphorylase LACC1 isoform X3

Conserved Domains (1) summary

cl00650
Location:218 → 303

Cu-oxidase_4; Multi-copper polyphenol oxidoreductase laccase
XM_047430108.1 → XP_047286064.1 purine nucleoside phosphorylase LACC1 isoform X3
XM_047430103.1 → XP_047286059.1 purine nucleoside phosphorylase LACC1 isoform X2
XM_047430105.1 → XP_047286061.1 purine nucleoside phosphorylase LACC1 isoform X2
XM_047430100.1 → XP_047286056.1 purine nucleoside phosphorylase LACC1 isoform X1

UniProtKB/Swiss-Prot

A2A3Z6, Q8IV20, Q8N8X5
XM_047430107.1 → XP_047286063.1 purine nucleoside phosphorylase LACC1 isoform X3
XM_047430109.1 → XP_047286065.1 purine nucleoside phosphorylase LACC1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

43098039..43112848

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054374118.1 → XP_054230093.1 purine nucleoside phosphorylase LACC1 isoform X2
XM_054374120.1 → XP_054230095.1 purine nucleoside phosphorylase LACC1 isoform X2
XM_054374123.1 → XP_054230098.1 purine nucleoside phosphorylase LACC1 isoform X3
XM_054374125.1 → XP_054230100.1 purine nucleoside phosphorylase LACC1 isoform X3
XM_054374117.1 → XP_054230092.1 purine nucleoside phosphorylase LACC1 isoform X2
XM_054374115.1 → XP_054230090.1 purine nucleoside phosphorylase LACC1 isoform X1
XM_054374122.1 → XP_054230097.1 purine nucleoside phosphorylase LACC1 isoform X3
XM_054374126.1 → XP_054230101.1 purine nucleoside phosphorylase LACC1 isoform X3
XM_054374121.1 → XP_054230096.1 purine nucleoside phosphorylase LACC1 isoform X2
XM_054374127.1 → XP_054230102.1 purine nucleoside phosphorylase LACC1 isoform X3
XM_054374116.1 → XP_054230091.1 purine nucleoside phosphorylase LACC1 isoform X1
XM_054374119.1 → XP_054230094.1 purine nucleoside phosphorylase LACC1 isoform X2
XM_054374124.1 → XP_054230099.1 purine nucleoside phosphorylase LACC1 isoform X3