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
312870032019Rewiring E2F1 with classical NHEJ via APLF suppression promotes bladder cancer invasiveness.11
312870032019Rewiring E2F1 with classical NHEJ via APLF suppression promotes bladder cancer invasiveness.11
295802412018Enhanced expression of histone chaperone APLF associate with breast cancer.8
299058372018DNA repair factor APLF acts as a H2A-H2B histone chaperone through binding its DNA interaction surface.25
302913632018XLF and APLF bind Ku80 at two remote sites to ensure DNA repair by non-homologous end joining.47
295802412018Enhanced expression of histone chaperone APLF associate with breast cancer.8
299058372018DNA repair factor APLF acts as a H2A-H2B histone chaperone through binding its DNA interaction surface.25
302913632018XLF and APLF bind Ku80 at two remote sites to ensure DNA repair by non-homologous end joining.47
290593782017Characterization of the APLF FHA-XRCC1 phosphopeptide interaction and its structural and functional implications.6
290593782017Characterization of the APLF FHA-XRCC1 phosphopeptide interaction and its structural and functional implications.6
231785932013APLF promotes the assembly and activity of non-homologous end joining protein complexes.80
236894252013Identification and functional characterization of a Ku-binding motif in aprataxin polynucleotide kinase/phosphatase-like factor (APLF).22
231785932013APLF promotes the assembly and activity of non-homologous end joining protein complexes.80
236894252013Identification and functional characterization of a Ku-binding motif in aprataxin polynucleotide kinase/phosphatase-like factor (APLF).22
212117212011PARP-3 and APLF function together to accelerate nonhomologous end-joining.165

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-(aprataxin-and-pnkp-like-factor)