1. Gene
  2. LACC1 - laccase domain containing 1 Gene

LACC1 - laccase domain containing 1 Gene

中文名称:含漆酶域 1

种属: Homo sapiens

同用名: FAMIN; JUVAR; C13orf31

基因 ID: 144811 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种氧化还原酶,可促进脂肪酸氧化,伴随炎症小体激活、线粒体和 NADPH 氧化酶依赖性活性氧的产生以及巨噬细胞的杀菌活性。编码的蛋白质与过氧化物酶体上的脂肪酸合酶形成复合物,被认为受过氧化物酶体增殖物激活受体信号事件的调节。该基因中自然发生的突变与炎症性肠病、白塞病、麻风病、溃疡性结肠炎、早发性克罗恩病和全身性幼年特发性关节炎有关。[RefSeq 提供,2017 年 4 月]

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 基因产物(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

LACC1 蛋白结构

Cu-oxidase_4

Cu-oxidase_4: Multi-copper polyphenol oxidoreductase laccase (194 - 427)

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  • 430 a.a.
蛋白主名 其他名称

purine nucleoside phosphorylase LACC1

S-methyl-5'-thioadenosine phosphorylase LACC1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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