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APTX aprataxin [ Homo sapiens (human) ]

Gene ID: 54840, updated on 5-Mar-2024

Summary

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Official Symbol
APTXprovided by HGNC
Official Full Name
aprataxinprovided by HGNC
Primary source
HGNC:HGNC:15984
See related
Ensembl:ENSG00000137074 MIM:606350; AllianceGenome:HGNC:15984
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
Summary
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in kidney (RPKM 2.7), testis (RPKM 2.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
9p21.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (32972616..33025120, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (32989181..33041681, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32972614..33025118, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene bolA family member 3 pseudogene 4 Neighboring gene argininosuccinate synthetase 1 pseudogene 12 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:32957490-32958689 Neighboring gene transcription elongation factor A1 pseudogene 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:33000571-33001182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:33001183-33001795 Neighboring gene uncharacterized LOC124902140 Neighboring gene uncharacterized LOC124902139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:33024111-33024706 Neighboring gene Sharpr-MPRA regulatory region 3987 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:33025301-33025895 Neighboring gene L antigen family member 3 pseudogene 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:33043981-33044482 Neighboring gene SMU1 DNA replication regulator and spliceosomal factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28269

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. Ababneh NA, et al. Stem Cell Res, 2020 Oct. PMID 32769066
  2. Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents. Ababneh NA, et al. PLoS One, 2020. PMID 32750061, Free PMC Article
  3. Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease. Tumbale P, et al. EMBO J, 2018 Jul 13. PMID 29934293, Free PMC Article
  4. Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. Inlora J, et al. Cold Spring Harb Mol Case Stud, 2017 Nov. PMID 28652255, Free PMC Article
  5. Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. van Minkelen R, et al. BMC Med Genet, 2015 Aug 19. PMID 26285866, Free PMC Article

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. APTX acts in DNA double-strand break repair in a manner distinct from XRCC4.
    Title: APTX acts in DNA double-strand break repair in a manner distinct from XRCC4.
  2. Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene.
    Title: Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene.
  3. Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.
    Title: Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.
  4. Aprataxin (APTX) surveils LIG1 activity which suppresses mutagenic and abortive ligation at sites of oxidative DNA damage. APTX provides another tier of damaged DNA substrate discrimination by preferentially intercepting and hydrolyzing AMP-DNA intermediates that contain improper 3' termini.
    Title: Two-tiered enforcement of high-fidelity DNA ligation.
  5. Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in APTX-deficient cells have been reported.
    Title: Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.
  6. These results uncover a DNA-induced fit mechanism regulating APTX active site loop conformations and assembly of a catalytically competent active center.
    Title: Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
  7. we demonstrated that miR-424 regulated radiosensitivity by directly targeting aprataxin.
    Title: miR-424 acts as a tumor radiosensitizer by targeting aprataxin in cervical cancer.
  8. Whole-exome sequencing on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia resulted in the identification of a homozygous novel stop-gain mutation in the APTX gene (c.739A>T; p.Lys247*) that segregates with the phenotype.
    Title: Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.
  9. Mutations in TDP1 and APTX have been linked to Spinocerebellar ataxia with axonal neuropathy (SCAN1) and Ataxia-ocular motor apraxia 1 (AOA1), respectively, while mutations in PNKP are considered to be responsible for Microcephaly with seizures (MCSZ) and Ataxia-ocular motor apraxia 4 (AOA4).
    Title: Neurological disorders associated with DNA strand-break processing enzymes.
  10. Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
    Title: Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC1072, FLJ20157

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA 5'-adenosine monophosphate hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA 5'-adenosine monophosphate hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-3'-diphospho-5'-guanosine diphosphatase IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables damaged DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables double-stranded RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables double-stranded RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables mismatched DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphoglycolate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphoprotein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-strand break-containing DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in DNA ligation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in single strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in single strand break repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in single strand break repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
aprataxin
Names
forkhead-associated domain histidine triad-like protein
NP_001182177.2
NP_001182178.1
NP_001182179.2
NP_001182180.1
NP_001182181.2
NP_001182183.1
NP_001355924.1
NP_001355925.1
NP_001355926.1
NP_001355927.1
NP_001355928.1
NP_001355929.1
NP_001355930.1
NP_001355931.1
NP_001355932.1
NP_001355933.1
NP_001355934.1
NP_001355935.1
NP_001357598.1
NP_001357599.1
NP_001357602.1
NP_778239.2
NP_778243.1

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.

Genomic

  1. NG_012821.2 RefSeqGene

    Range
    28504..57516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195248.2 → NP_001182177.2  aprataxin isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 6, 7, 16, 17, 18, and 19 encode the same isoform (a).
    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47956.1
    UniProtKB/Swiss-Prot
    A8MTN4, D3DRK9, D3DRL0, Q0P662, Q5T781, Q5T782, Q5T784, Q6JV81, Q6JV82, Q6JV85, Q7Z2E3, Q7Z2F3, Q7Z336, Q7Z5R5, Q7Z6V7, Q7Z6V8, Q9NXM5
    Related
    ENSP00000369145.2, ENST00000379817.7
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164 → 265
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:283 → 342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  2. NM_001195249.2 → NP_001182178.1  aprataxin isoform a

    See identical proteins and their annotated locations for NP_001182178.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 6, 7, 16, 17, 18, and 19 encode the same isoform (a).
    Source sequence(s)
    AA494365, AL162590, AL353717, AY208836, DA664623
    Consensus CDS
    CCDS47956.1
    UniProtKB/Swiss-Prot
    A8MTN4, D3DRK9, D3DRL0, Q0P662, Q5T781, Q5T782, Q5T784, Q6JV81, Q6JV82, Q6JV85, Q7Z2E3, Q7Z2F3, Q7Z336, Q7Z5R5, Q7Z6V7, Q7Z6V8, Q9NXM5
    Related
    ENSP00000419846.1, ENST00000463596.6
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164 → 265
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:283 → 342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  3. NM_001195250.2 → NP_001182179.2  aprataxin isoform h

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform h, which is shorter than isoform a.
    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS75827.1
    UniProtKB/TrEMBL
    C9J8U3
    Related
    ENSP00000419042.2, ENST00000476858.6
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 44
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:110 → 211
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:229 → 288
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  4. NM_001195251.2 → NP_001182180.1  aprataxin isoform g

    See identical proteins and their annotated locations for NP_001182180.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. This variant encodes isoform g, which has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AA494365, AY208830, BX538161
    Consensus CDS
    CCDS6532.2
    UniProtKB/TrEMBL
    F5HRF8
    Conserved Domains (2) summary
    cd01278
    Location:164 → 265
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam17913
    Location:5 → 101
    FHA_2; FHA domain

  5. NM_001195252.2 → NP_001182181.2  aprataxin isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (i) is shorter than isoform a.
    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS94395.1
    UniProtKB/TrEMBL
    A0A5K1VW64, C9J8U3
    Related
    ENSP00000380357.4, ENST00000397172.8
    Conserved Domains (3) summary
    cd01278
    Location:92 → 193
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:211 → 270
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    cl00062
    Location:3 → 89
    FHA; forkhead associated (FHA) domain superfamily

  6. NM_001195254.2 → NP_001182183.1  aprataxin isoform h

    See identical proteins and their annotated locations for NP_001182183.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform h, which is shorter than isoform a.
    Source sequence(s)
    AA494365, AL162590, AL353717, AY208833, DB042208
    Consensus CDS
    CCDS75827.1
    UniProtKB/TrEMBL
    C9J8U3
    Related
    ENSP00000311547.4, ENST00000309615.8
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 44
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:110 → 211
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:229 → 288
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  7. NM_001368995.1 → NP_001355924.1  aprataxin isoform a

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47956.1
    UniProtKB/Swiss-Prot
    A8MTN4, D3DRK9, D3DRL0, Q0P662, Q5T781, Q5T782, Q5T784, Q6JV81, Q6JV82, Q6JV85, Q7Z2E3, Q7Z2F3, Q7Z336, Q7Z5R5, Q7Z6V7, Q7Z6V8, Q9NXM5
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164 → 265
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:283 → 342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  8. NM_001368996.1 → NP_001355925.1  aprataxin isoform a

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47956.1
    UniProtKB/Swiss-Prot
    A8MTN4, D3DRK9, D3DRL0, Q0P662, Q5T781, Q5T782, Q5T784, Q6JV81, Q6JV82, Q6JV85, Q7Z2E3, Q7Z2F3, Q7Z336, Q7Z5R5, Q7Z6V7, Q7Z6V8, Q9NXM5
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164 → 265
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:283 → 342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  9. NM_001368997.1 → NP_001355926.1  aprataxin isoform a

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47956.1
    UniProtKB/Swiss-Prot
    A8MTN4, D3DRK9, D3DRL0, Q0P662, Q5T781, Q5T782, Q5T784, Q6JV81, Q6JV82, Q6JV85, Q7Z2E3, Q7Z2F3, Q7Z336, Q7Z5R5, Q7Z6V7, Q7Z6V8, Q9NXM5
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164 → 265
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:283 → 342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  10. NM_001368998.1 → NP_001355927.1  aprataxin isoform a

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47956.1
    UniProtKB/Swiss-Prot
    A8MTN4, D3DRK9, D3DRL0, Q0P662, Q5T781, Q5T782, Q5T784, Q6JV81, Q6JV82, Q6JV85, Q7Z2E3, Q7Z2F3, Q7Z336, Q7Z5R5, Q7Z6V7, Q7Z6V8, Q9NXM5
    Related
    ENSP00000417649.2, ENST00000477119.2
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164 → 265
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:283 → 342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  11. NM_001368999.1 → NP_001355928.1  aprataxin isoform g

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS6532.2
    UniProtKB/TrEMBL
    F5HRF8
    Related
    ENSP00000420263.2, ENST00000468275.6
    Conserved Domains (2) summary
    cd01278
    Location:164 → 265
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam17913
    Location:5 → 101
    FHA_2; FHA domain

  12. NM_001369000.1 → NP_001355929.1  aprataxin isoform h

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS75827.1
    UniProtKB/TrEMBL
    C9J8U3
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 44
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:110 → 211
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:229 → 288
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  13. NM_001369001.1 → NP_001355930.1  aprataxin isoform h

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS75827.1
    UniProtKB/TrEMBL
    C9J8U3
    Related
    ENSP00000400806.4, ENST00000436040.7
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 44
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:110 → 211
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:229 → 288
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  14. NM_001369002.1 → NP_001355931.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47957.1
    UniProtKB/TrEMBL
    C9J8U3
    Conserved Domains (2) summary
    cd01278
    Location:76 → 177
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:195 → 254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  15. NM_001369003.1 → NP_001355932.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47957.1
    UniProtKB/TrEMBL
    C9J8U3
    Related
    ENSP00000500601.1, ENST00000673248.1
    Conserved Domains (2) summary
    cd01278
    Location:76 → 177
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:195 → 254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  16. NM_001369004.1 → NP_001355933.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47957.1
    UniProtKB/TrEMBL
    C9J8U3
    Conserved Domains (2) summary
    cd01278
    Location:76 → 177
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:195 → 254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  17. NM_001369005.1 → NP_001355934.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47957.1
    UniProtKB/TrEMBL
    C9J8U3
    Related
    ENSP00000500738.1, ENST00000673416.1
    Conserved Domains (2) summary
    cd01278
    Location:76 → 177
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:195 → 254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  18. NM_001369006.1 → NP_001355935.1  aprataxin isoform k

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Conserved Domains (1) summary
    cd01278
    Location:76 → 177
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...

  19. NM_001370669.1 → NP_001357598.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47957.1
    UniProtKB/TrEMBL
    C9J8U3
    Related
    ENSP00000499997.1, ENST00000672438.1
    Conserved Domains (2) summary
    cd01278
    Location:76 → 177
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:195 → 254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  20. NM_001370670.1 → NP_001357599.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47957.1
    UniProtKB/TrEMBL
    C9J8U3
    Conserved Domains (2) summary
    cd01278
    Location:76 → 177
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:195 → 254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  21. NM_001370673.1 → NP_001357602.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS47957.1
    UniProtKB/TrEMBL
    C9J8U3
    Conserved Domains (2) summary
    cd01278
    Location:76 → 177
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:195 → 254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

  22. NM_175069.3 → NP_778239.2  aprataxin isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences compared to variant 1. This variant encodes isoform (g) which has a shorter C-terminus compared to isoform a.
    Source sequence(s)
    AL162590, AL353717
    Consensus CDS
    CCDS6532.2
    UniProtKB/TrEMBL
    F5HRF8
    Related
    ENSP00000369153.3, ENST00000379825.7
    Conserved Domains (2) summary
    cd01278
    Location:164 → 265
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam17913
    Location:5 → 101
    FHA_2; FHA domain

  23. NM_175073.3 → NP_778243.1  aprataxin isoform a

    See identical proteins and their annotated locations for NP_778243.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1, 6, 7, 16, 17, 18, and 19 encode the same isoform (a).
    Source sequence(s)
    AA494365, AL353717, AY208830, AY208837
    Consensus CDS
    CCDS47956.1
    UniProtKB/Swiss-Prot
    A8MTN4, D3DRK9, D3DRL0, Q0P662, Q5T781, Q5T782, Q5T784, Q6JV81, Q6JV82, Q6JV85, Q7Z2E3, Q7Z2F3, Q7Z336, Q7Z5R5, Q7Z6V7, Q7Z6V8, Q9NXM5
    Related
    ENSP00000369147.2, ENST00000379819.6
    Conserved Domains (3) summary
    TIGR01663
    Location:3 → 107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164 → 265
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
    pfam16278
    Location:283 → 342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

RNA

  1. NR_036577.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA494365, AL353717, AY208830, BC001628
    Related
    ENST00000673211.1

  2. NR_160920.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENST00000672152.1

  3. NR_160921.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENST00000672615.1

  4. NR_160922.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENST00000673487.1

  5. NR_160923.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717

  6. NR_160924.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717

  7. NR_160925.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717

  8. NR_160926.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENST00000485479.6

  9. NR_160927.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENST00000482687.6

  10. NR_160928.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717

  11. NR_160929.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENST00000460940.6

  12. NR_160930.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENST00000465003.6

  13. NR_160931.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENST00000483148.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    32972616..33025120 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    32989181..33041681 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017692.2: Suppressed sequence

    Description
    NM_017692.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_175072.1: Suppressed sequence

    Description
    NM_175072.1: This RefSeq was permanently suppressed because the transcript is likely partial.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z2E3.2 GenPept UniProtKB/Swiss-Prot:Q7Z2E3

Gene LinkOut

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