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UniProtKB - C9J8U3 (C9J8U3_HUMAN)
Protein
Aprataxin
Gene
APTX
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
- a 3'-end 2'-deoxyribonucleotide-3'-diphospho-5'-guanosine-DNA + H2O = a 3'-end 2'-deoxyribonucleotide 3'-phosphate-DNA + GMP + 2 H+ARBA annotationEC:3.6.1.72ARBA annotation
- a 5'-end adenosine-5'-diphospho-5'-(2'-deoxyribonucleoside)-DNA + H2O = a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + AMP + 2 H+ARBA annotationEC:3.6.1.71ARBA annotation
- a 5'-end adenosine-5'-diphospho-5'-ribonucleoside-2'-deoxyribonucleotide-DNA + H2O = a 5'-end 5'-monophospho-ribonucleoside-2'-deoxyribonucleotide-DNA + AMP + 2 H+ARBA annotationEC:3.6.1.71ARBA annotation
GO - Molecular functioni
- DNA-3'-diphospho-5'-guanosine diphosphatase Source: UniProtKB-EC
- DNA 5'-adenosine monophosphate hydrolase activity Source: InterPro
- DNA binding Source: UniProtKB-KW
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- DNA repair Source: UniProtKB-KW
Keywordsi
Molecular function | DNA-bindingARBA annotation |
Biological process | DNA damage, DNA repairARBA annotation |
Ligand | Metal-binding, Zinc |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:APTX |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15984, APTX |
VEuPathDBi | HostDB:ENSG00000137074 |
Subcellular locationi
Nucleus
- nucleolus ARBA annotation
- nucleoplasm ARBA annotation
Nucleus
- nucleolus Source: HPA
- nucleoplasm Source: HPA
Keywords - Cellular componenti
NucleusARBA annotationExpressioni
Gene expression databases
Bgeei | ENSG00000137074, Expressed in testis and 223 other tissues |
ExpressionAtlasi | C9J8U3, baseline and differential |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 129 – 234 | HITInterPro annotationAdd BLAST | 106 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 66 – 114 | DisorderedSequence analysisAdd BLAST | 49 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 219 – 223 | Histidine triad motifPROSITE-ProRule annotation | 5 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 66 – 90 | Basic and acidic residuesSequence analysisAdd BLAST | 25 |
Keywords - Domaini
Zinc-fingerARBA annotationPhylogenomic databases
GeneTreei | ENSGT00940000156806 |
Family and domain databases
Gene3Di | 3.30.428.10, 1 hit |
InterProi | View protein in InterPro IPR026963, Aprataxin-like IPR041388, FHA_2 IPR019808, Histidine_triad_CS IPR011146, HIT-like IPR036265, HIT-like_sf IPR008984, SMAD_FHA_dom_sf IPR032566, Znf-C2HE IPR013087, Znf_C2H2_type |
PANTHERi | PTHR12486:SF4, PTHR12486:SF4, 2 hits |
Pfami | View protein in Pfam PF17913, FHA_2, 1 hit PF16278, zf-C2HE, 1 hit |
SUPFAMi | SSF49879, SSF49879, 1 hit SSF54197, SSF54197, 1 hit |
PROSITEi | View protein in PROSITE PS00892, HIT_1, 1 hit PS51084, HIT_2, 1 hit PS00028, ZINC_FINGER_C2H2_1, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All
C9J8U3-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE
60 70 80 90 100
CNKGYVKVKQ FEEEAKNPGL ETHRKRKRSG NSDSIERDAA QEAEAGTGLE
110 120 130 140 150
PGSNSGQCSV PLKKGKDAPI KKESLGHWSQ GLKISMQDPK MQVYKDEQVV
160 170 180 190 200
VIKDKYPKAR YHWLVLPWTS ISSLKAVARE HLELLKHMHT VGEKVIVDFA
210 220 230 240 250
GSSKLRFRLG YHAIPSMSHV HLHVISQDFD SPCLKNKKHW NSFNTEYFLE
260 270 280 290 300
SQAVIEMVQE AGRVTVRDGM PELLKLPLRC HECQQLLPSI PQLKEHLRKH
WTQ
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ7Z2E3 | APTX_HUMAN | Aprataxin | APTX AXA1 | 356 | Annotation score: | ||
A0A0A0MRW7 | A0A0A0MRW7_HUMAN | Aprataxin | APTX | 336 | Annotation score: | ||
A0A5K1VW64 | A0A5K1VW64_HUMAN | Aprataxin | APTX | 270 | Annotation score: | ||
A0A5F9ZGW5 | A0A5F9ZGW5_HUMAN | Aprataxin | APTX | 138 | Annotation score: | ||
A0A5F9ZI51 | A0A5F9ZI51_HUMAN | Aprataxin | APTX | 104 | Annotation score: | ||
F8WBD6 | F8WBD6_HUMAN | Aprataxin | APTX | 52 | Annotation score: | ||
F8WBM3 | F8WBM3_HUMAN | Aprataxin | APTX | 68 | Annotation score: | ||
Q6JV79 | Q6JV79_HUMAN | Aprataxin | APTX | 85 | Annotation score: | ||
A0A5K1VW80 | A0A5K1VW80_HUMAN | Aprataxin | APTX | 60 | Annotation score: |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL162590 Genomic DNA No translation available. AL353717 Genomic DNA No translation available. |
Genome annotation databases
Ensembli | ENST00000477119.2; ENSP00000417649.2; ENSG00000137074.20 |
UCSCi | uc064soa.1, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL162590 Genomic DNA No translation available. AL353717 Genomic DNA No translation available. |
3D structure databases
SMRi | C9J8U3 |
ModBasei | Search... |
Proteomic databases
EPDi | C9J8U3 |
MaxQBi | C9J8U3 |
PeptideAtlasi | C9J8U3 |
ProteomicsDBi | 9103 |
Protocols and materials databases
Antibodypediai | 10716, 247 antibodies from 30 providers |
Genome annotation databases
Ensembli | ENST00000477119.2; ENSP00000417649.2; ENSG00000137074.20 |
UCSCi | uc064soa.1, human |
Organism-specific databases
HGNCi | HGNC:15984, APTX |
OpenTargetsi | ENSG00000137074 |
VEuPathDBi | HostDB:ENSG00000137074 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00940000156806 |
Miscellaneous databases
ChiTaRSi | APTX, human |
Gene expression databases
Bgeei | ENSG00000137074, Expressed in testis and 223 other tissues |
ExpressionAtlasi | C9J8U3, baseline and differential |
Family and domain databases
Gene3Di | 3.30.428.10, 1 hit |
InterProi | View protein in InterPro IPR026963, Aprataxin-like IPR041388, FHA_2 IPR019808, Histidine_triad_CS IPR011146, HIT-like IPR036265, HIT-like_sf IPR008984, SMAD_FHA_dom_sf IPR032566, Znf-C2HE IPR013087, Znf_C2H2_type |
PANTHERi | PTHR12486:SF4, PTHR12486:SF4, 2 hits |
Pfami | View protein in Pfam PF17913, FHA_2, 1 hit PF16278, zf-C2HE, 1 hit |
SUPFAMi | SSF49879, SSF49879, 1 hit SSF54197, SSF54197, 1 hit |
PROSITEi | View protein in PROSITE PS00892, HIT_1, 1 hit PS51084, HIT_2, 1 hit PS00028, ZINC_FINGER_C2H2_1, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | C9J8U3_HUMAN | |
Accessioni | C9J8U3Primary (citable) accession number: C9J8U3 | |
Entry historyi | Integrated into UniProtKB/TrEMBL: | November 3, 2009 |
Last sequence update: | December 11, 2019 | |
Last modified: | May 25, 2022 | |
This is version 93 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Unreviewed (UniProtKB/TrEMBL) | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |