LIG3 - DNA ligase 3 Gene

中文名称：DNA 连接酶 3

种属: Homo sapiens

同用名: LIG2; MTDPS20; LIG3alpha

基因 ID: 3980 | 基因类型: protein coding

关于 LIG3

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:34,980,512-35,010,872 (from NCBI)

This gene has 16 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 4.6) and 25 other tissues.

功能概要

该基因是 DNA 连接酶家族的成员。这个家族的每个成员都编码一种蛋白质，该蛋白质催化 DNA 末端的连接，但它们各自在 DNA 代谢中具有不同的作用。由该基因编码的蛋白质参与切除修复，位于线粒体和细胞核中，从上游起始密码子开始翻译，允许运输到线粒体，从下游起始密码子开始翻译，允许运输到细胞核。此外，编码不同同种型的替代转录剪接变体已被表征。[RefSeq 提供，2008 年 7 月]

This gene is a member of the DNA Ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LIG3 基因产物(2)

mRNA	Protein	Name
NM_002311.5	NP_002302.2	DNA ligase 3 isoform beta precursor
NM_013975.4	NP_039269.2	DNA ligase 3 isoform alpha precursor

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA ligase (ATP) activity	IDA IDA: 通过直接分析推断	7565692	GOA
enables DNA ligase (ATP) activity	IMP IMP: 通过突变表型推断	10207110	GOA
enables DNA ligase activity	IDA IDA: 通过直接分析推断	9809069	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	8532526	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA ligation	IDA IDA: 通过直接分析推断	7565692	GOA
NOT involved in V(D)J recombination	IDA IDA: 通过直接分析推断	9809069	GOA
involved in base-excision repair, DNA ligation	IDA IDA: 通过直接分析推断	19589734	GOA
involved in base-excision repair, DNA ligation	IMP IMP: 通过突变表型推断	24674627	GOA
involved in double-strand break repair	IDA IDA: 通过直接分析推断	19589734	GOA
involved in double-strand break repair via alternative nonhomologous end joining	IGI IGI: 通过遗传相互作用推断	24837021	GOA
involved in mitochondrial DNA repair	IMP IMP: 通过突变表型推断	21390132	GOA
involved in mitochondrion organization	IDA IDA: 通过直接分析推断	24837021	GOA
involved in negative regulation of mitochondrial DNA replication	IMP IMP: 通过突变表型推断	21878356	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of DNA ligase III-XRCC1 complex	IDA IDA: 通过直接分析推断	8532526	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	10207110	GOA
located in nucleus	IDA IDA: 通过直接分析推断	10207110	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

LIG3 蛋白结构

zf-PARP

DNA_ligase_A_N

DNA_ligase_A_M

DNA_ligase_A_C

0
200
400
600
800
1009 a.a.

蛋白主名

其他名称

DNA ligase 3

ligase II, DNA, ATP-dependent

LIG3 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	LIG3	P49916	MAX	Homo sapiens	P61244	Pull Down	25609649

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Mitochondrial Dna Depletion Syndrome 20

MTDPS20	Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome, Lig3-Related
Mitochondrial Dna Depletion Syndrome 20, Mngie Type

Mitochondrial Neurogastrointestinal Encephalomyopathy

Mngie	Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Bloom Syndrome

BLM	Bs
Bls	Bloom-Torre-Machacek Syndrome
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1	Mgrisce1
Congenital Telangiectatic Erythema	Congenital Telangiectatic Erythema Syndrome
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability	Bloom'S Syndrome
Bsyn

Spinocerebellar Ataxia Type 1 With Axonal Neuropathy

Scan1	Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy	Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy
Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy	Spinocerebellar Ataxia With Axonal Neuropathy
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy	Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia

Aoa1	Ataxia-Telangiectasia-Like Disorder
EAOH	Eoca-Ha
Ataxia With Oculomotor Apraxia Type 1	Ataxia-Oculomotor Apraxia 1
Ataxia-Oculomotor Apraxia Syndrome	AOA
Ataxia-Telangiectasia-Like Syndrome	Ataxia-Oculomotor Apraxia Type 1
Ataxia With Oculomotor Apraxia	Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia	Early-Onset Cerebellar Ataxia With Hypoalbuminemia
Adult Onset Ataxia With Oculomotor Apraxia	Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia
Scan2	Scar1
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
Atld	Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar Ataxia Early-Onset With Hypoalbuminemia	Ataxia-Oculomotor Apraxia
Spinocerebellar Ataxia, Autosomal Recessive 1

Xeroderma Pigmentosum, Complementation Group A

Xeroderma Pigmentosum Group A	Xp1
Xeroderma Pigmentosum, Group A	XPA
Xeroderma Pigmentosum I	Xeroderma Pigmentosum Complementation Group A
Xp Group A	Xp, Group A
Xeroderma Pigmentosum 1	Xeroderma Pigmentosum, Type 1
XP-A

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G	Xeroderma Pigmentosum Vii
Xp7	XPG
Xeroderma Pigmentosum Group G	Xp Group G
Xp, Group G	Xpgc
Xeroderma Pigmentosum, Group G/Cockayne Syndrome	Xeroderma Pigmentosum, Type 7
Xeroderma Pigmentosum Complementation Group G	XP-G
Xp-G/Cs	Xeroderma Pigmentosum Group G/Cockayne Syndrome

Cockayne Syndrome B

Cockayne Syndrome Type 2	Cockayne Syndrome, Type B
Cockayne Syndrome Type Ii	CSB
Cockayne Syndrome 2	Cockayne Syndrome Type B
Ckn2	Cockayne Syndrome, Type Ii

Trichothiodystrophy

Ttd	Amish Brittle Hair Syndrome
Bids Syndrome	Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Ibids	Pibids
Trichothiodystrophy Syndromes

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07643	LIG3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	LIG3	VGNC	VGNC:97480
Bos taurus	LIG3	VGNC	VGNC:30883
Rattus norvegicus	LIG3	RGD	RGD:1309875
Mus musculus	LIG3	MGD	MGI:109152
Macaca mulatta	LIG3	VGNC	VGNC:74266
Canis familiaris	LIG3	VGNC	VGNC:42674

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

LIG3 - DNA ligase 3 Gene

关于 LIG3

功能概要

LIG3 基因产物(2)

LIG3 蛋白结构

LIG3 蛋白互作信息

关联疾病

直系同源

热门区域

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LIG3 - DNA ligase 3 Gene

关于 LIG3

功能概要

LIG3 基因产物(2)

LIG3 蛋白结构

LIG3 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z