Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	200558
Gene name	Aprataxin and PNKP like factor
Gene symbol	APLF
Synonyms (NCBI Gene)	APFLC2orf13PALFXip1ZCCHH1
Chromosome	2
Chromosome location	2p13.3
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]

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments	Reference
MIRT660598	hsa-miR-4724-5p	HITS-CLIP	23824327
MIRT660597	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT660596	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT660594	hsa-miR-4708-3p	HITS-CLIP	23824327
MIRT660595	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT660593	hsa-miR-6809-5p	HITS-CLIP	23824327
MIRT660598	hsa-miR-4724-5p	HITS-CLIP	23824327
MIRT660597	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT660596	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT660594	hsa-miR-4708-3p	HITS-CLIP	23824327
MIRT660595	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT660593	hsa-miR-6809-5p	HITS-CLIP	23824327
MIRT789531	hsa-miR-1276	CLIP-seq
MIRT789532	hsa-miR-141	CLIP-seq
MIRT789533	hsa-miR-194	CLIP-seq
MIRT789534	hsa-miR-199a-3p	CLIP-seq
MIRT789535	hsa-miR-199b-3p	CLIP-seq
MIRT789536	hsa-miR-200a	CLIP-seq
MIRT789537	hsa-miR-25	CLIP-seq
MIRT789538	hsa-miR-3129-5p	CLIP-seq
MIRT789539	hsa-miR-3159	CLIP-seq
MIRT789540	hsa-miR-32	CLIP-seq
MIRT789541	hsa-miR-363	CLIP-seq
MIRT789542	hsa-miR-367	CLIP-seq
MIRT789543	hsa-miR-4311	CLIP-seq
MIRT789544	hsa-miR-548n	CLIP-seq
MIRT789545	hsa-miR-548t	CLIP-seq
MIRT789546	hsa-miR-579	CLIP-seq
MIRT789547	hsa-miR-583	CLIP-seq
MIRT789548	hsa-miR-92a	CLIP-seq
MIRT789549	hsa-miR-92b	CLIP-seq
MIRT789550	hsa-miR-936	CLIP-seq
MIRT1932898	hsa-miR-1305	CLIP-seq
MIRT1932899	hsa-miR-3128	CLIP-seq
MIRT1932900	hsa-miR-3152-5p	CLIP-seq
MIRT1932901	hsa-miR-3177-5p	CLIP-seq
MIRT1932902	hsa-miR-3545-3p	CLIP-seq
MIRT1932903	hsa-miR-4307	CLIP-seq
MIRT1932904	hsa-miR-4470	CLIP-seq
MIRT1932905	hsa-miR-4635	CLIP-seq
MIRT1932906	hsa-miR-4684-5p	CLIP-seq
MIRT1932907	hsa-miR-4768-5p	CLIP-seq
MIRT1932908	hsa-miR-4774-3p	CLIP-seq
MIRT1932909	hsa-miR-580	CLIP-seq
MIRT2173055	hsa-miR-155	CLIP-seq
MIRT1932901	hsa-miR-3177-5p	CLIP-seq
MIRT2173056	hsa-miR-4289	CLIP-seq
MIRT2173057	hsa-miR-489	CLIP-seq

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Transcription factor	Regulation	Reference
ATM	Unknown	18077224

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000012	Process	Single strand break repair	IMP	17396150
GO:0000166	Function	Nucleotide binding	IDA	18172500
GO:0000166	Function	Nucleotide binding	IEA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	17396150
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	IDA	17396150
GO:0005515	Function	Protein binding	IPI	17353262, 17396150, 18172500, 20098424, 21812934, 23178593, 23689425, 25416956, 28514442, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17396150, 18172500
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006281	Process	DNA repair	IDA	21211722
GO:0006281	Process	DNA repair	IDA	21211722, 30104678
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IBA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	IMP	17396150
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IGI	21211721
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	23689425
GO:0006457	Process	Protein folding	IEA
GO:0006974	Process	DNA damage response	IDA	17396150
GO:0006974	Process	DNA damage response	IEA
GO:0007566	Process	Embryo implantation	IEA
GO:0007566	Process	Embryo implantation	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0008408	Function	3'-5' exonuclease activity	IDA	17396150
GO:0008408	Function	3'-5' exonuclease activity	IEA
GO:0010717	Process	Regulation of epithelial to mesenchymal transition	IEA
GO:0010717	Process	Regulation of epithelial to mesenchymal transition	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0035861	Component	Site of double-strand break	IBA
GO:0035861	Component	Site of double-strand break	IDA	23689425
GO:0035861	Component	Site of double-strand break	IDA	21211721
GO:0042393	Function	Histone binding	IDA	21211722, 29905837
GO:0044183	Function	Protein folding chaperone	EXP	29905837
GO:0045191	Process	Regulation of isotype switching	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071168	Process	Protein localization to chromatin	IDA	21211722
GO:0071168	Process	Protein localization to chromatin	IDA	21211722
GO:0072572	Function	Poly-ADP-D-ribose binding	IDA	18172500, 21211721, 30104678
GO:0090734	Component	Site of DNA damage	IDA	30104678
GO:0090734	Component	Site of DNA damage	IDA	21211722
GO:0140713	Function	Histone chaperone activity	IDA	21211722, 29905837
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IDA	21211722, 29905837
GO:0160002	Function	ADP-D-ribose modification-dependent protein binding	IDA	18172500

MIM	HGNC	e!Ensembl
611035	28724	ENSG00000169621

Q8IW19

Protein name

Aprataxin and PNK-like factor (EC 3.1.-.-) (Apurinic-apyrimidinic endonuclease APLF) (PNK and APTX-like FHA domain-containing protein) (XRCC1-interacting protein 1)

Protein function

Histone chaperone involved in single-strand and double-strand DNA break repair (PubMed:17353262, PubMed:17396150, PubMed:21211721, PubMed:21211722, PubMed:29905837, PubMed:30104678). Recruited to sites of DNA damage through interaction with bran

PDB

2KQB , 2KQC , 2KQD , 2KQE , 2KUO , 5E50 , 5W7W , 5W7X , 5W7Y , 6ERF , 6TYT , 6TYW , 6TYZ , 6YN1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17913	FHA_2	8 → 101	FHA domain	Domain
PF10283	zf-CCHH	376 → 401	PBZ domain	Domain
PF10283	zf-CCHH	418 → 444	PBZ domain	Domain

Sequence

MSGGFELQPRDGGPRVALAPGETVIGRGPLLGITDKRVSRRHAILEVAGGQLRIKPIHTN
PCFYQSSEKSQLLPLKPNLWCYLNPGDSFSLLVDKYIFRILSIPSEVEMQCTLRNSQVLD
EDNILNETPKSPVINLPHETTGASQLEGSTEIAKTQMTPTNSVSFLGENRDCNKQQPILA
ERKRILPTWMLAEHLSDQNLSVPAISGGNVIQGSGKEEICKDKSQLNTTQQGRRQLISSG
SSENTSAEQDTGEECKNTDQEESTISSKEMPQSFSAITLSNTEMNNIKTNAQRNKLPIEE
LGKVSKHKIATKRTPHKEDEAMSCSENCSSAQGDSLQDESQGSHSESSSNPSNPETLHAK
ATDSVLQGSEGNKVKRTSCMYGANCYRKNPVHFQHFSHPGDSDYGGVQIVGQDETDDRPE
CPYGPSCYRKNPQHKIEYRHNTLPVRNVLDEDNDNVGQPNEYDLNDSFLDDEEEDYEPTD
EDSDWEPGKEDEEKEDVEELLKEAKRFMKRK

Sequence length

511

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aplastic Anemia	Aplastic anemia	BEFREE	30770193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31287003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31287003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31287003		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	8346236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31287003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	31733588		★★★★★ ★☆☆☆☆ Found in Text Mining only

APLF (aprataxin and PNKP like factor)