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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	200558
Gene name Gene Name - the full gene name approved by the HGNC.	Aprataxin and PNKP like factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	APLF
Synonyms (NCBI Gene) Gene synonyms aliases	APFL, C2orf13, PALF, Xip1, ZCCHH1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Transcription factors

Show/Hide all(1)

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

Protein

UniProt ID

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

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Ischemic Stroke	Ischemic stroke	N/A	N/A	GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Urinary Bladder Neoplasms	Associate	31287003

APLF (aprataxin and PNKP like factor)