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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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