APLF - aprataxin and PNKP like factor Gene

Homo sapiens

Also known as APFL; PALF; Xip1; ZCCHH1; C2orf13

Gene ID: 200558 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 3'-5' exonuclease activity	IDA IDA: Inferred from direct assay	17396150	GOA
enables ADP-D-ribose modification-dependent protein binding	IDA IDA: Inferred from direct assay	18172500	GOA
enables DNA endonuclease activity	IDA IDA: Inferred from direct assay	17396150	GOA
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA IDA: Inferred from direct assay	17396150	GOA
enables histone binding	IDA IDA: Inferred from direct assay	21211722	GOA
enables histone chaperone activity	IDA IDA: Inferred from direct assay	21211722	GOA
enables nucleotide binding	IDA IDA: Inferred from direct assay	18172500	GOA
enables poly-ADP-D-ribose binding	IDA IDA: Inferred from direct assay	18172500	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17353262	GOA
enables protein folding chaperone	EXP EXP: Inferred from Experiment	29905837	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	17396150	GOA
involved in DNA repair	IDA IDA: Inferred from direct assay	21211722	GOA
involved in DNA repair-dependent chromatin remodeling	IDA IDA: Inferred from direct assay	21211722	GOA
involved in double-strand break repair	IMP IMP: Inferred from mutant phenotype	17396150	GOA
involved in double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	23689425	GOA
acts upstream of or within positive regulation of DNA ligation	IGI IGI: Inferred from genetic interaction	21211721	GOA
involved in protein localization to chromatin	IDA IDA: Inferred from direct assay	21211722	GOA
involved in single strand break repair	IMP IMP: Inferred from mutant phenotype	17396150	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	17396150	GOA
is active in site of DNA damage	IDA IDA: Inferred from direct assay	30104678	GOA
located in site of DNA damage	IDA IDA: Inferred from direct assay	21211722	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	23689425	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	21211721	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

APLF Protein Structure

zf-CCHH

0
100
200
300
400
511 a.a.

Protein Preferred Names

Protein Names

aprataxin and PNK-like factor

PNK and APTX-like FHA domain-containing protein

APLF Protein-protein interaction Information

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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Orthologs Information

Species	Symbol	Source	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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