Aplf aprataxin and PNKP like factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aplfprovided by MGI
Official Full Name: aprataxin and PNKP like factorprovided by MGI
Primary source: MGI:MGI:1919353
See related: Ensembl:ENSMUSG00000030051 AllianceGenome:MGI:1919353
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2010301N04Rik
Summary: Predicted to enable several functions, including ADP-D-ribose modification-dependent protein binding activity; nuclease activity; and poly-ADP-D-ribose binding activity. Involved in embryo implantation and regulation of epithelial to mesenchymal transition. Acts upstream of or within double-strand break repair and regulation of isotype switching. Is active in cytosol and nucleus. Is expressed in allantois; blastocyst; and early embryo. Orthologous to human APLF (aprataxin and PNKP like factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver E14 (RPKM 3.4), liver E14.5 (RPKM 3.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 D1; 6 38.52 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (87605407..87649244, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (87628425..87672237, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Kinase activity of histone chaperone APLF maintains steady state of centrosomes in mouse embryonic stem cells.
Title: Kinase activity of histone chaperone APLF maintains steady state of centrosomes in mouse embryonic stem cells.
Histone chaperone APLF level dictates the implantation of mouse embryos.
Title: Histone chaperone APLF level dictates the implantation of mouse embryos.
the downregulation of histone chaperone Aprataxin PNK-like factor (APLF) promotes reprogramming by augmenting the expression of E-cadherin.
Title: Histone chaperone APLF regulates induction of pluripotency in murine fibroblasts.
APLF has a role in chromosomal DNA double-strand break repair.
Title: PARP-3 and APLF function together to accelerate nonhomologous end-joining.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3'-5' exonuclease activity	ISO Inferred from Sequence Orthology more info
enables 3'-5' exonuclease activity	ISS Inferred from Sequence or Structural Similarity more info
enables ADP-D-ribose modification-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables ADP-D-ribose modification-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA endonuclease activity	ISO Inferred from Sequence Orthology more info
enables DNA endonuclease activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	ISO Inferred from Sequence Orthology more info
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	ISS Inferred from Sequence or Structural Similarity more info
enables histone binding	ISO Inferred from Sequence Orthology more info
enables histone binding	ISS Inferred from Sequence or Structural Similarity more info
enables histone chaperone activity	ISO Inferred from Sequence Orthology more info
enables histone chaperone activity	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	ISS Inferred from Sequence or Structural Similarity more info
enables poly-ADP-D-ribose binding	ISO Inferred from Sequence Orthology more info
enables poly-ADP-D-ribose binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein folding chaperone	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
involved_in DNA repair-dependent chromatin remodeling	ISO Inferred from Sequence Orthology more info
involved_in DNA repair-dependent chromatin remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in double-strand break repair via nonhomologous end joining	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via nonhomologous end joining	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryo implantation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA ligation	ISO Inferred from Sequence Orthology more info
involved_in protein localization to chromatin	IEA Inferred from Electronic Annotation more info
involved_in protein localization to chromatin	ISO Inferred from Sequence Orthology more info
involved_in regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of isotype switching	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in single strand break repair	ISO Inferred from Sequence Orthology more info
involved_in single strand break repair	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in site of DNA damage	ISO Inferred from Sequence Orthology more info
located_in site of DNA damage	ISO Inferred from Sequence Orthology more info
located_in site of DNA damage	ISS Inferred from Sequence or Structural Similarity more info
is_active_in site of double-strand break	IBA Inferred from Biological aspect of Ancestor more info
is_active_in site of double-strand break	ISO Inferred from Sequence Orthology more info
located_in site of double-strand break	ISO Inferred from Sequence Orthology more info
is_active_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: aprataxin and PNK-like factor

Names: apurinic-apyrimidinic endonuclease APLF

NP_001163960.1

EC 4.2.99.18

NP_001359261.1

EC 4.2.99.18

NP_077213.2

EC 4.2.99.18

XP_006506719.1

EC 4.2.99.18

XP_006506720.1

EC 4.2.99.18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001170489.1 → NP_001163960.1 aprataxin and PNK-like factor isoform 1

See identical proteins and their annotated locations for NP_001163960.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC125171, AK008513

Consensus CDS

CCDS51839.1

UniProtKB/Swiss-Prot

Q8BZL5, Q99LX6, Q9D842

Related

ENSMUSP00000032130.3, ENSMUST00000032130.8

Conserved Domains (2) summary

cd00060
Location:5 → 102

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

pfam10283
Location:414 → 435

zf-CCHH; Zinc-finger (CX5CX6HX5H) motif
NM_001372332.1 → NP_001359261.1 aprataxin and PNK-like factor isoform 3

Status: VALIDATED

Source sequence(s)

AC125171, AC158626

Conserved Domains (2) summary

pfam10283
Location:413 → 435

zf-CCHH; Zinc-finger (CX5CX6HX5H) motif

pfam17913
Location:6 → 100

FHA_2; FHA domain
NM_024251.4 → NP_077213.2 aprataxin and PNK-like factor isoform 2

See identical proteins and their annotated locations for NP_077213.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has distinct N- and C-termini and is shorter compared to isoform 1.

Source sequence(s)

AC125171, AK008513, AK034191

Consensus CDS

CCDS20324.1

UniProtKB/Swiss-Prot

Q9D842

Related

ENSMUSP00000066232.3, ENSMUST00000065997.5

Conserved Domains (1) summary

pfam10283
Location:393 → 414

zf-CCHH; Zinc-finger (CX5CX6HX5H) motif