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(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000012	Process	Single strand break repair	IMP	17396150
GO:0000166	Function	Nucleotide binding	IDA	18172500
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA	21873635
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	17396150
GO:0004520	Function	Endodeoxyribonuclease activity	IDA	17396150
GO:0005515	Function	Protein binding	IPI	17353262, 17396150, 18172500, 20098424, 23178593, 25416956, 28514442
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	17396150, 18172500
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006302	Process	Double-strand break repair	IBA	21873635
GO:0006302	Process	Double-strand break repair	IMP	17396150
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	17396150
GO:0008408	Function	3'-5' exonuclease activity	IDA	17396150
GO:0035861	Component	Site of double-strand break	IBA	21873635
GO:0035861	Component	Site of double-strand break	IDA	21211721
GO:0046872	Function	Metal ion binding	IEA
GO:0051106	Process	Positive regulation of DNA ligation	IGI	21211721
GO:0090305	Process	Nucleic acid phosphodiester bond hydrolysis	IEA

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 Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Ischemic Stroke	Ischemic Stroke			GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining
Urinary Bladder Neoplasms	Associate	31287003

APLF (aprataxin and PNKP like factor)