LACC1 - laccase domain containing 1 Gene

Homo sapiens

Also known as FAMIN; JUVAR; C13orf31

Gene ID: 144811 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07487	LACC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.