APLF - aprataxin and PNKP like factor Gene

中文名称：aprataxin 和 PNKP 样因子

种属: Homo sapiens

同用名: APFL; PALF; Xip1; ZCCHH1; C2orf13

基因 ID: 200558 | 基因类型: protein coding

关于 APLF

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:68,467,585-68,580,162 (from NCBI)

This gene has 6 transcripts (splice variants) and 180 orthologues. Ubiquitous expression in testis (RPKM 1.6), skin (RPKM 1.2) and 24 other tissues.

功能概要

C2ORF13 是细胞对染色体 DNA 单链和双链断裂反应的一个组成部分 (Iles 等人，2007 [PubMed 17353262]) 。[OMIM 提供，2008 年 3 月]

C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]

APLF 基因产物(1)

mRNA	Protein	Name
NM_173545.3	NP_775816.1	aprataxin and PNK-like factor

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 3'-5' exonuclease activity	IDA IDA: 通过直接分析推断	17396150	GOA
enables ADP-D-ribose modification-dependent protein binding	IDA IDA: 通过直接分析推断	18172500	GOA
enables DNA endonuclease activity	IDA IDA: 通过直接分析推断	17396150	GOA
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA IDA: 通过直接分析推断	17396150	GOA
enables histone binding	IDA IDA: 通过直接分析推断	21211722	GOA
enables histone chaperone activity	IDA IDA: 通过直接分析推断	21211722	GOA
enables nucleotide binding	IDA IDA: 通过直接分析推断	18172500	GOA
enables poly-ADP-D-ribose binding	IDA IDA: 通过直接分析推断	18172500	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17353262	GOA
enables protein folding chaperone	EXP EXP: 通过实验结果推断	29905837	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	17396150	GOA
involved in DNA repair	IDA IDA: 通过直接分析推断	21211722	GOA
involved in DNA repair-dependent chromatin remodeling	IDA IDA: 通过直接分析推断	21211722	GOA
involved in double-strand break repair	IMP IMP: 通过突变表型推断	17396150	GOA
involved in double-strand break repair via nonhomologous end joining	IMP IMP: 通过突变表型推断	23689425	GOA
acts upstream of or within positive regulation of DNA ligation	IGI IGI: 通过遗传相互作用推断	21211721	GOA
involved in protein localization to chromatin	IDA IDA: 通过直接分析推断	21211722	GOA
involved in single strand break repair	IMP IMP: 通过突变表型推断	17396150	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	17396150	GOA
is active in site of DNA damage	IDA IDA: 通过直接分析推断	30104678	GOA
located in site of DNA damage	IDA IDA: 通过直接分析推断	21211722	GOA
is active in site of double-strand break	IDA IDA: 通过直接分析推断	23689425	GOA
located in site of double-strand break	IDA IDA: 通过直接分析推断	21211721	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

APLF 蛋白结构

zf-CCHH

0
100
200
300
400
511 a.a.

蛋白主名

其他名称

aprataxin and PNK-like factor

PNK and APTX-like FHA domain-containing protein

APLF 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
Intra	APLF	Q8IW19	FLJ13057	Homo sapiens	Q53SE7	Y2H Prey Pooling	25416956
Intra	APLF	Q8IW19	FLJ13057	Homo sapiens	Q53SE7	Y2H Array	25416956
Intra	APLF	Q8IW19	PARP2	Homo sapiens	Q9UGN5	Anti Tag CoIP	33961781
Intra	APLF	Q8IW19	PARP1	Homo sapiens	P09874	Anti Tag CoIP	33961781
Intra	APLF	Q8IW19	PARP1	Homo sapiens	P09874	Anti Tag CoIP	28514442
Intra	APLF	Q8IW19	PARP1	Homo sapiens	P09874	Enzymatic Study	18172500
Intra	APLF	Q8IW19	PARP1	Homo sapiens	P09874	Pull Down	17396150
Intra	APLF	Q8IW19	PARP1	Homo sapiens	P09874	Anti Tag CoIP	18172500
Intra	APLF	Q8IW19	PARP1	Homo sapiens	P09874	Anti Tag CoIP	20098424
Intra	APLF	Q8IW19	XRCC5	Homo sapiens	P13010	Pull Down	17396150
Intra	APLF	Q8IW19	XRCC5	Homo sapiens	P13010	Anti Tag CoIP	20098424
Intra	APLF	Q8IW19	XRCC5	Homo sapiens	P13010	Y2H	23178593
Intra	APLF	Q8IW19	XRCC5	Homo sapiens	P13010	FPS	23178593
Intra	APLF	Q8IW19	XRCC5	Homo sapiens	P13010	Filter Binding	23178593
Intra	APLF	Q8IW19	XRCC5	Homo sapiens	P13010	Anti Tag CoIP	33961781
Intra	APLF	Q8IW19	XRCC5	Homo sapiens	P13010	Anti Tag CoIP	28514442
Intra	APLF	Q8IW19	XRCC4	Homo sapiens	Q13426	Anti Tag CoIP	33961781
Intra	APLF	Q8IW19	XRCC4	Homo sapiens	Q13426	Y2H	17353262
Intra	APLF	Q8IW19	XRCC4	Homo sapiens	Q13426	Filter Binding	23178593
Intra	APLF	Q8IW19	XRCC4	Homo sapiens	Q13426	Pull Down	17396150
Intra	APLF	Q8IW19	XRCC4	Homo sapiens	Q13426	Anti Tag CoIP	28514442
Intra	APLF	Q8IW19	LIG4	Homo sapiens	P49917	Pull Down	17396150
Intra	APLF	Q8IW19	LIG4	Homo sapiens	P49917	Anti Tag CoIP	33961781
Intra	APLF	Q8IW19	LIG4	Homo sapiens	P49917	Anti Tag CoIP	28514442
Intra	APLF	Q8IW19	LIG4	Homo sapiens	P49917	Filter Binding	23178593
Intra	APLF	Q8IW19	XRCC1	Homo sapiens	P18887	Y2H	17353262
Intra	APLF	Q8IW19	XRCC1	Homo sapiens	P18887	Anti Tag CoIP	17353262
Intra	APLF	Q8IW19	XRCC1	Homo sapiens	P18887	Filter Binding	17353262
Intra	APLF	Q8IW19	XRCC1	Homo sapiens	P18887	Y2H	23178593
Intra	APLF	Q8IW19	XRCC1	Homo sapiens	P18887	Anti Tag CoIP	33961781
Intra	APLF	Q8IW19	XRCC1	Homo sapiens	P18887	Pull Down	17396150
Intra	APLF	Q8IW19	XRCC1	Homo sapiens	P18887	Anti Tag CoIP	28514442
Intra	APLF	Q8IW19	XRCC1	Homo sapiens	P18887	IF	17353262

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

Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures

CONDSIAS

Stress-Induced Childhood-Onset Neurodegeneration With Variable Ataxia And Seizures

Inhalation Anthrax

Pulmonary Anthrax	Respiratory Anthrax
Inhalational Anthrax	Wool-Sorters' Disease
Woolsorters' Disease	Inhalation Anthrax Disease
Respiratory Anthrax Disease

Osgood-Schlatter'S Disease

Osgood-Schlatter Disease	Juvenile Osteochondrosis Of Tibial Tubercle
Osteochondrosis	Osteochondritis Of Tibial Tubercle
Osteochondrosis Of Proximal Tibia	Aseptic Necrosis Of The Tibial Tubercle
Osteochondrosis Of The Tibial Tubercle	Osteochondritis Juvenilis

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-RS00821	APLF Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	APLF	VGNC	VGNC:59203
Macaca mulatta	APLF	VGNC	VGNC:106127
Felis catus	APLF	VGNC	VGNC:79992
Mus musculus	APLF	MGD	MGI:1919353
Rattus norvegicus	APLF	RGD	RGD:1565557
Canis familiaris	APLF	VGNC	VGNC:53960

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