APLF (aprataxin and PNKP like factor)

2008-10-01  

Identity

HGNC
APLF
LOCATION
2p13.3
LOCUSID
200558
ALIAS
APFL,C2orf13,PALF,Xip1,ZCCHH1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 200558
MIM: 611035
HGNC: 28724
Ensembl: ENSG00000169621

Variants:

dbSNP: 200558
ClinVar: 200558
TCGA: ENSG00000169621
COSMIC: APLF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169621ENST00000303795Q8IW19
ENSG00000169621ENST00000445692F8WET0
ENSG00000169621ENST00000529851E9PRH6

Expression (GTEx)

0
1
2
3
4
5
6
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713176Platinum compoundsChemicalClinicalAnnotation, VariantAnnotationassociatedPD25069034
PA166123026progression-free survivalDiseaseVariantAnnotationassociatedPD25069034
PA166123207overall survivalDiseaseVariantAnnotationassociatedPD25069034
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotation, VariantAnnotationassociatedPD25069034

References

Pubmed IDYearTitleCitations
181725002008Poly(ADP-ribose)-binding zinc finger motifs in DNA repair/checkpoint proteins.177
212117212011PARP-3 and APLF function together to accelerate nonhomologous end-joining.115
173532622007APLF (C2orf13) is a novel human protein involved in the cellular response to chromosomal DNA strand breaks.67
212117222011DNA repair factor APLF is a histone chaperone.60
173961502007A novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses.59
231785932013APLF promotes the assembly and activity of non-homologous end joining protein complexes.49
184746132008APLF (C2orf13) is a novel component of poly(ADP-ribose) signaling in mammalian cells.47
180772242008APLF (C2orf13) facilitates nonhomologous end-joining and undergoes ATM-dependent hyperphosphorylation following ionizing radiation.43
200984242010Solution structures of the two PBZ domains from human APLF and their interaction with poly(ADP-ribose).40
218858772011Polynucleotide kinase and aprataxin-like forkhead-associated protein (PALF) acts as both a single-stranded DNA endonuclease and a single-stranded DNA 3' exonuclease and can participate in DNA end joining in a biochemical system.27

Citation

Dessen P

APLF (aprataxin and PNKP like factor)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50421/aplf