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protein coding gene - hnt3 (SPCC18.09c) - aprataxin Hnt3

Gene summary

Standard name
hnt3
Systematic ID
SPCC18.09c
Product
aprataxin Hnt3
Organism
Schizosaccharomyces pombe (fission yeast)
Synonyms
aptx
UniProt ID
O74859
ORFeome ID
13/13A12
Characterisation status
biological role published
Feature type
mRNA gene
Genomic location
chromosome III: 1970754..1973820 reverse strand

Annotation

Disease association

MONDO:0008842 - ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

References:

MONDO:0005071 - nervous system disorder

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GO biological process

GO:0006298 - mismatch repair

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GO:0000012 - single strand break repair

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GO cellular component

GO:0005829 - cytosol

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GO:0005634 - nucleus

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GO molecular function

GO:0033699 - DNA 5'-adenosine monophosphate hydrolase activity

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GO:0120108 - DNA-3'-diphospho-5'-guanosine diphosphatase activity

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GO:0003690 - double-stranded DNA binding

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GO:0003725 - double-stranded RNA binding

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GO:0019002 - GMP binding

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GO:1905108 - guanosine binding

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GO:0030983 - mismatched DNA binding

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GO:1990165 - single-strand break-containing DNA binding

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GO:0003697 - single-stranded DNA binding

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GO:0008270 - zinc ion binding

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Modification

MOD:00046 - O-phospho-L-serine

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Protein features

PBO:0111932 - HIT family

Qualitative gene expression

PomGeneEx:0000018 - protein level increased

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PomGeneEx:0000012 - RNA level decreased

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PomGeneEx:0000011 - RNA level increased

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Quantitative gene expression

PBO:0006310 - protein level

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PBO:0011963 - RNA level

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Single locus phenotype

FYPO:0002492 - abolished DNA 5'-adenosine monophosphate hydrolase activity

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Genotypes:

FYPO:0006311 - abolished DNA-3'-diphospho-5'-guanosine diphosphatase activity

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Genotypes:

FYPO:0002493 - decreased DNA 5'-adenosine monophosphate hydrolase activity

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Genotypes:

FYPO:0000658 - decreased DNA binding

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Genotypes:

FYPO:0006312 - decreased DNA-3'-diphospho-5'-guanosine diphosphatase activity

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Genotypes:

FYPO:0006518 - loss of viability in G0

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Genotypes:

FYPO:0007553 - normal G1 to G0 transition

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Genotypes:

FYPO:0009087 - resistance to magnesium chloride and sodium dodecyl sulfate

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Genotypes:

FYPO:0003383 - resistance to tert-butyl hydroperoxide

References:

Genotypes:

FYPO:0000830 - resistance to vanadate

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Genotypes:

FYPO:0001098 - sensitive to 4-nitroquinoline N-oxide

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Genotypes:

FYPO:0000097 - sensitive to caffeine during vegetative growth

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Genotypes:

FYPO:0007931 - sensitive to egtazic acid

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Genotypes:

FYPO:0000089 - sensitive to methyl methanesulfonate

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Genotypes:

FYPO:0002060 - viable vegetative cell population

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Genotypes:

FYPO:0002177 - viable vegetative cell with normal cell morphology

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Genotypes:

Taxonomic conservation

PBO:0011065 - conserved in eukaryotes

PBO:0011071 - conserved in eukaryotes only

PBO:0011064 - conserved in fungi

PBO:0011069 - conserved in metazoa

PBO:0011070 - conserved in vertebrates

PBO:0006222 - predominantly single copy (one to one)

Protein features

IDNameInterPro nameDB name
PF01230HITHIT-likePfam
PF16278zf-C2HEZnf-C2HEPfam
G3DSA:3.30.428.10:FF:000017CATH-FunFam
G3DSA:3.30.428.10HIT-like_sfCATH-Gene3D
SSF54197HIT-like_sfSUPERFAMILY
PTHR12486PANTHER

Orthologs

References / Literature

PMID:33313903 - Ribosome profiling reveals ribosome stalling on tryptophan codons and ribosome queuing upon oxidative stress in fission yeast.
Rubio A et al. Nucleic Acids Res 2021 Jan 11;49(1):383-399
PMID:26007660 - DNA3'pp5'G de-capping activity of aprataxin: effect of cap nucleoside analogs and structural basis for guanosine recognition.
Chauleau M et al. Nucleic Acids Res 2015 Jul 13;43(12):6075-83
GO_REF:0000033 - Annotation inferences using phylogenetic trees
PMID:19264558 - Screening a genome-wide S. pombe deletion library identifies novel genes and pathways involved in genome stability maintenance.
Deshpande GP et al. DNA Repair (Amst) 2009 May 01;8(5):672-9
PMID:16823372 - ORFeome cloning and global analysis of protein localization in the fission yeast Schizosaccharomyces pombe.
Matsuyama A et al. Nat Biotechnol 2006 Jul;24(7):841-7
PMID:21984210 - Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease.
Tumbale P et al. Nat Struct Mol Biol 2011 Oct 09;18(11):1189-95
PMID:24362567 - Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.
Tumbale P et al. Nature 2014 Feb 06;506(7486):111-5
PMID:23101633 - Quantitative analysis of fission yeast transcriptomes and proteomes in proliferating and quiescent cells.
Marguerat S et al. Cell 2012 Oct 26;151(3):671-83
PMID:27984744 - Survival in Quiescence Requires the Euchromatic Deployment of Clr4/SUV39H by Argonaute-Associated Small RNAs.
Joh RI et al. Mol Cell 2016 Dec 15;64(6):1088-1101
PMID:31626996 - Multiplexed proteome profiling of carbon source perturbations in two yeast species with SL-SP3-TMT.
Paulo JA et al. J Proteomics 2020 Jan 06;210:103531
PMID:21511999 - Comparative functional genomics of the fission yeasts.
Rhind N et al. Science 2011 May 20;332(6032):930-6
PB_REF:0000003 - Disease Association Curation
PMID:21984208 - Crystal structures of aprataxin ortholog Hnt3 reveal the mechanism for reversal of 5'-adenylated DNA.
Gong Y et al. Nat Struct Mol Biol 2011 Oct 09;18(11):1297-9
PMID:37787768 - Broad functional profiling of fission yeast proteins using phenomics and machine learning.
Rodríguez-López M et al. Elife 2023 Oct 03;12
PMID:20473289 - Analysis of a genome-wide set of gene deletions in the fission yeast Schizosaccharomyces pombe.
Kim DU et al. Nat Biotechnol 2010 Jun;28(6):617-623
PMID:23697806 - A genome-wide resource of cell cycle and cell shape genes of fission yeast.
Hayles J et al. Open Biol 2013 May 22;3(5):130053
PMID:24763107 - Absolute proteome and phosphoproteome dynamics during the cell cycle of Schizosaccharomyces pombe (Fission Yeast).
Carpy A et al. Mol Cell Proteomics 2014 Aug;13(8):1925-36
PMID:29432178 - General amino acid control in fission yeast is regulated by a nonconserved transcription factor, with functions analogous to Gcn4/Atf4.
Duncan CDS et al. Proc Natl Acad Sci U S A 2018 Feb 20;115(8):E1829-E1838
PB_REF:0000006 - Disease associations from Monarch via human-pombe orthologs
PMID:22681890 - Hierarchical modularity and the evolution of genetic interactomes across species.
Ryan CJ et al. Mol Cell 2012 Jun 08;46(5):691-704
PMID:16537923 - Sterol regulatory element binding protein is a principal regulator of anaerobic gene expression in fission yeast.
Todd BL et al. Mol Cell Biol 2006 Apr;26(7):2817-31
PMID:30726745 - Fission Yeast NDR/LATS Kinase Orb6 Regulates Exocytosis via Phosphorylation of the Exocyst Complex.
Tay YD et al. Cell Rep 2019 Feb 05;26(6):1654-1667.e7
PMID:28974540 - The fission yeast nucleoporin Alm1 is required for proteasomal degradation of kinetochore components.
Salas-Pino S et al. J Cell Biol 2017 Nov 06;216(11):3591-3608
PMID:33260998 - High-Throughput Flow Cytometry Combined with Genetic Analysis Brings New Insights into the Understanding of Chromatin Regulation of Cellular Quiescence.
Zahedi Y et al. Int J Mol Sci 2020 Nov 27;21(23)