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APLF aprataxin and PNKP like factor [ Homo sapiens (human) ]

Gene ID: 200558, updated on 25-Nov-2021

Summary

Official Symbol
APLFprovided by HGNC
Official Full Name
aprataxin and PNKP like factorprovided by HGNC
Primary source
HGNC:HGNC:28724
See related
Ensembl:ENSG00000169621 MIM:611035
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APFL; PALF; Xip1; ZCCHH1; C2orf13
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 1.6), skin (RPKM 1.2) and 24 other tissues See more
Orthologs
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Genomic context

See APLF in Genome Data Viewer
Location:
2p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (68467585..68580162)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (68694717..68807294)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WDR4 pseudogene 2 Neighboring gene F-box protein 48 Neighboring gene putative UPF0607 protein ENSP00000383783 pseudogene Neighboring gene transmembrane and coiled-coil domain family 1 pseudogene Neighboring gene prokineticin receptor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PROKR1

Homology

Clone Names

  • FLJ16593, MGC47799

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3'-5' exonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-(apurinic or apyrimidinic site) endonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-(apurinic or apyrimidinic site) endonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
enables endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
located_in site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
aprataxin and PNK-like factor
Names
PNK and APTX-like FHA domain-containing protein
PNK and APTX-like FHA protein
XRCC1-interacting protein 1
aprataxin- and PNK-like factor
apurinic-apyrimidinic endonuclease APLF
zinc finger, CX5CX6HX5H motif containing 1
NP_775816.1

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)

  1. NM_173545.3NP_775816.1  aprataxin and PNK-like factor

    See identical proteins and their annotated locations for NP_775816.1

    Status: VALIDATED

    Source sequence(s)
    BC041144, DA641644
    Consensus CDS
    CCDS1888.1
    UniProtKB/Swiss-Prot
    Q8IW19
    Related
    ENSP00000307004.4, ENST00000303795.9
    Conserved Domains (2) summary
    cd00060
    Location:21102
    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:378401
    zf-CCHH; Zinc-finger (CX5CX6HX5H) motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    68467585..68580162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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