LACC1 - laccase domain containing 1 Gene

Also Known as FAMIN; JUVAR; C13orf31

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 144811

About LACC1

Cytogenetic location: 13q14.11 Genomic coordinates (GRCh38): 13:43,879,178-43,893,932 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 5.5), small intestine (RPKM 5.3) and 25 other tissues.

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]

LACC1 Products (13)

mRNA	Protein	Name
NM_001128303.2	NP_001121775.1	purine nucleoside phosphorylase LACC1 isoform 1
NM_001350638.2	NP_001337567.1	purine nucleoside phosphorylase LACC1 isoform 1
NM_001350639.2	NP_001337568.1	purine nucleoside phosphorylase LACC1 isoform 1
NM_001350640.2	NP_001337569.1	purine nucleoside phosphorylase LACC1 isoform 1
NM_001350641.2	NP_001337570.1	purine nucleoside phosphorylase LACC1 isoform 1
NM_001350642.2	NP_001337571.1	purine nucleoside phosphorylase LACC1 isoform 1
NM_001350643.2	NP_001337572.1	purine nucleoside phosphorylase LACC1 isoform 2
NM_001350644.2	NP_001337573.1	purine nucleoside phosphorylase LACC1 isoform 3
NM_001350645.2	NP_001337574.1	purine nucleoside phosphorylase LACC1 isoform 3
NM_001350646.2	NP_001337575.1	purine nucleoside phosphorylase LACC1 isoform 3
NM_001350647.2	NP_001337576.1	purine nucleoside phosphorylase LACC1 isoform 3
NM_001350648.2	NP_001337577.1	purine nucleoside phosphorylase LACC1 isoform 4
NM_153218.4	NP_694950.2	purine nucleoside phosphorylase LACC1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables S-methyl-5-thioadenosine phosphorylase activity	IDA IDA: Inferred from direct assay	31978345	GOA
enables adenosine deaminase activity	IDA IDA: Inferred from direct assay	31978345	GOA
enables guanosine phosphorylase activity	IDA IDA: Inferred from direct assay	31978345	GOA
NOT enables oxidoreductase activity, acting on diphenols and related substances as donors, oxygen as acceptor	IDA IDA: Inferred from direct assay	27959965	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27478939	GOA
enables purine-nucleoside phosphorylase activity	IDA IDA: Inferred from direct assay	31978345	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA IDA: Inferred from direct assay	31875558	GOA
involved in pattern recognition receptor signaling pathway	IDA IDA: Inferred from direct assay	28593945	GOA
involved in positive regulation of cytokine production involved in immune response	IDA IDA: Inferred from direct assay	28593945	GOA
involved in regulation of cellular pH	IDA IDA: Inferred from direct assay	31978345	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	31875558	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	27478939	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LACC1 Protein Structure

Cu-oxidase_4

0
100
200
300
400
430 a.a.

Protein Preferred Names	Protein Names
purine nucleoside phosphorylase LACC1	S-methyl-5'-thioadenosine phosphorylase LACC1

LACC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LACC1	Q8IV20	OSER1	Homo sapiens	Q9NX31	Anti Tag CoIP	33961781
Intra	LACC1	Q8IV20	FASN	Homo sapiens	P49327	Affinity Chrom	27478939
Intra	LACC1	Q8IV20	FASN	Homo sapiens	P49327	Anti Bait CoIP	27478939
Intra	LACC1	Q8IV20	FASN	Homo sapiens	P49327	PLA	27478939
Cross	LACC1	Q8IV20	PAP2	Phytolacca americana	Q40772	Anti Bait CoIP	31875558

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Juvenile Arthritis	JUVAR Arthritis, Juvenile
Systemic Onset Juvenile Idiopathic Arthritis	Systemic-Onset Juvenile Idiopathic Arthritis Still Disease Systemic Juvenile Idiopathic Arthritis Systemic-Onset Jia Still'S Disease Systemic Onset Juvenile Rheumatoid Arthritis Systemic Polyarthritis Polyarthritis, Systemic Systemic Onset Juvenile Chronic Arthritis
Crohn'S Disease	Crohn Disease Pediatric Crohn'S Disease Regional Enteritis Crohn'S Disease Of Large Bowel Granulomatous Colitis Enteritis, Granulomatous Enteritis Crohn'S Disease Of Colon Colitis, Granulomatous Crohn'S Enteritis Enteritis, Regional Ileitis Adenoviral Enteritis Acute Gastroenteropathy Due To Norwalk Agent Viral Gastroenteritis Due To Norwalk Agent Winter Vomiting Epidemic Winter Vomiting Disease Small Round Structured Virus Enteritis Epidemic Vomiting Syndrome Epidemic Vomiting Epidemic Nausea Epidemic Viral Gastroenteritis Due To Norwalk Virus Noroviral Enteritis Crohn Disease Nos Crohns Cd - [Crohn'S Disease] Regional Enteritis Of Bowel Crohn'S Regional Enteritis Cobble-Stone Appearance Of Intestine Intestinal Ulcer And Erosion Due To Crohn Disease Granulomatous Enteritis
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Leprosy 3	Leprosy Leprosy, Susceptibility To, 3 Hansen'S Disease Leprosy, Susceptibility To Hansen Disease Infection Due To Mycobacterium Leprae LPRS3 Leprosy, Type 3 Anaesthesia Leprosy Anaesthetic Leprosy Maculoanaesthetic Leprosy Macular Leprosy Leprosy Unspecified
Ulcerative Colitis	Colitis Gravis Left Sided Ulcerative Colitis Left-Sided Ulcerative Colitis Idiopathic Proctocolitis Inflammatory Bowel Disease, Ulcerative Colitis Type Uc Colitis Ulcerative Colitis, Ulcerative Chronic Left-Sided Ulcerative Colitis Uc - [Ulcerative Colitis] Chronic Ulcerative Enteritis Mucosal Proctocolitis Ulcerative Mucosal Proctocolitis Left Hemicolitis
Colitis
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Immunodeficiency 31a	Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Stat1 Deficiency IMD31A Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant Stat1 Deficiency, Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency Msmd Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency Msmd Due To Partial Stat1 Deficiency Autosomal Dominant Immunodeficiency 31a, Mycobacteriosis Immunodeficiency, Type 31a, Mycobacteriosis, Autosomal Dominant
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	SIFD Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome Sifd Syndrome
Familial Behcet-Like Autoinflammatory Syndrome	Autoinflammatory Syndrome, Familial, Behcet-Like A20 Haploinsufficiency
Immunodeficiency 31c	IMD31C Candidiasis, Familial, 7 Candf7 Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis Autosomal Dominant Immunodeficiency 31c Familial Candidiasis 7 Chronic Mucocutaneous Candidiasis 7 Immunodeficiency 31c, Autosomal Dominant Immunodeficiency, Type 31c, Autosomal Dominant
Lacrimal Gland Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma Of Lacrimal Gland
Lacrimal Gland Adenocarcinoma	Adenocarcinoma Of Lacrimal Gland
Juvenile Ankylosing Spondylitis
Behcet Syndrome	Behcet Disease Behcet'S Syndrome Behcet'S Disease Behçet Disease Bd Adamantiades-Behcet Disease Triple Symptom Complex Behçet'S Disease Behet'S Syndrome Bd Syndrome Behçet Syndrome Behçet'S Syndrome Behcet Triple Symptom Complex Malignant Aphthosis Old Silk Route Disease Adamantiades-Behçet Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07487	LACC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19019	Lacc1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25508	Lacc1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LACC1	RGD	RGD:1310185
Bos taurus	LACC1	VGNC	VGNC:107253
Mus musculus	LACC1	MGD	MGI:2445077
Macaca mulatta	LACC1	VGNC	VGNC:106267
Others	LACC1	NCBI