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APTX aprataxin [ Homo sapiens (human) ]

Gene ID: 54840, updated on 18-Aug-2020

Summary

Official Symbol
APTXprovided by HGNC
Official Full Name
aprataxinprovided by HGNC
Primary source
HGNC:HGNC:15984
See related
Ensembl:ENSG00000137074 MIM:606350
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

Genomic context

See APTX in Genome Data Viewer
Location:
9p21.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (32883872..33025120, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32972604..33001639, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 215 Neighboring gene uncharacterized LOC107987060 Neighboring gene bolA family member 3 pseudogene 4 Neighboring gene argininosuccinate synthetase 1 pseudogene 12 Neighboring gene transcription elongation factor A1 pseudogene 4 Neighboring gene L antigen family member 3 pseudogene 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 Neighboring gene SMU1 DNA replication regulator and spliceosomal factor

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1072, FLJ20157

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA 5'-adenosine monophosphate hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA 5'-adenosine monophosphate hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
damaged DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
mismatched DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphoglycolate phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-strand break-containing DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA ligation IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
single strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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
XP_011516240.1
XP_016870320.1
XP_016870321.1
XP_016870322.1
XP_016870325.1
XP_024303346.1

NCBI Reference Sequences (RefSeq)

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_001195248.2NP_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
    Related
    ENSP00000369145.2, ENST00000379817.7
    Conserved Domains (3) summary
    TIGR01663
    Location:3107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164265
    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:283342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  2. NM_001195249.2NP_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
    Q7Z2E3
    Related
    ENSP00000419846.1, ENST00000463596.6
    Conserved Domains (3) summary
    TIGR01663
    Location:3107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164265
    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:283342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  3. NM_001195250.2NP_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
    CCDS56568.1
    Related
    ENSP00000419042.2, ENST00000476858.6
    Conserved Domains (3) summary
    TIGR01663
    Location:344
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:110211
    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:229288
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  4. NM_001195251.2NP_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
    UniProtKB/Swiss-Prot
    Q7Z2E3
    Conserved Domains (2) summary
    TIGR01663
    Location:3107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164265
    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 ...
  5. NM_001195252.2NP_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
    Related
    ENSP00000380357.4, ENST00000397172.8
    Conserved Domains (3) summary
    TIGR01663
    Location:389
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:92193
    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:211270
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  6. NM_001195254.2NP_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/Swiss-Prot
    Q7Z2E3
    Related
    ENSP00000311547.4, ENST00000309615.8
    Conserved Domains (3) summary
    TIGR01663
    Location:344
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:110211
    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:229288
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  7. NM_001368995.1NP_001355924.1  aprataxin isoform a

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Conserved Domains (3) summary
    TIGR01663
    Location:3107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164265
    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:283342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  8. NM_001368996.1NP_001355925.1  aprataxin isoform a

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Conserved Domains (3) summary
    TIGR01663
    Location:3107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164265
    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:283342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  9. NM_001368997.1NP_001355926.1  aprataxin isoform a

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Conserved Domains (3) summary
    TIGR01663
    Location:3107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164265
    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:283342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  10. NM_001368998.1NP_001355927.1  aprataxin isoform a

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENSP00000417649.2, ENST00000477119.2
    Conserved Domains (3) summary
    TIGR01663
    Location:3107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164265
    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:283342
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  11. NM_001368999.1NP_001355928.1  aprataxin isoform g

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENSP00000420263.2, ENST00000468275.6
    Conserved Domains (2) summary
    TIGR01663
    Location:3107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164265
    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 ...
  12. NM_001369000.1NP_001355929.1  aprataxin isoform h

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Conserved Domains (3) summary
    TIGR01663
    Location:344
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:110211
    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:229288
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  13. NM_001369001.1NP_001355930.1  aprataxin isoform h

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENSP00000400806.4, ENST00000436040.7
    Conserved Domains (3) summary
    TIGR01663
    Location:344
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:110211
    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:229288
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  14. NM_001369002.1NP_001355931.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Conserved Domains (2) summary
    cd01278
    Location:76177
    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:195254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  15. NM_001369003.1NP_001355932.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENSP00000500601.1, ENST00000673248.1
    Conserved Domains (2) summary
    cd01278
    Location:76177
    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:195254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  16. NM_001369004.1NP_001355933.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Conserved Domains (2) summary
    cd01278
    Location:76177
    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:195254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  17. NM_001369005.1NP_001355934.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENSP00000500738.1, ENST00000673416.1
    Conserved Domains (2) summary
    cd01278
    Location:76177
    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:195254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  18. NM_001369006.1NP_001355935.1  aprataxin isoform k

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Conserved Domains (1) summary
    cd01278
    Location:76177
    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_001370669.1NP_001357598.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Related
    ENSP00000499997.1, ENST00000672438.1
    Conserved Domains (2) summary
    cd01278
    Location:76177
    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:195254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  20. NM_001370670.1NP_001357599.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Conserved Domains (2) summary
    cd01278
    Location:76177
    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:195254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  21. NM_001370673.1NP_001357602.1  aprataxin isoform j

    Status: REVIEWED

    Source sequence(s)
    AL162590, AL353717
    Conserved Domains (2) summary
    cd01278
    Location:76177
    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:195254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
  22. NM_175069.3NP_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
    CCDS6532.1
    Related
    ENSP00000369153.3, ENST00000379825.7
    Conserved Domains (2) summary
    TIGR01663
    Location:3107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164265
    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 ...
  23. NM_175073.3NP_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
    Q7Z2E3
    Related
    ENSP00000369147.2, ENST00000379819.6
    Conserved Domains (3) summary
    TIGR01663
    Location:3107
    PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
    cd01278
    Location:164265
    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:283342
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    32883872..33025120 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014831.1XP_016870320.1  aprataxin isoform X1

  2. XM_017014832.1XP_016870321.1  aprataxin isoform X2

  3. XM_024447578.1XP_024303346.1  aprataxin isoform X5

    Conserved Domains (2) summary
    cd01278
    Location:178271
    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 ...
    cl26711
    Location:14121
    PNK3P; Polynucleotide kinase 3 phosphatase
  4. XM_017014833.2XP_016870322.1  aprataxin isoform X4

  5. XM_017014836.2XP_016870325.1  aprataxin isoform X6

  6. XM_011517938.2XP_011516240.1  aprataxin isoform X9

    See identical proteins and their annotated locations for XP_011516240.1

    UniProtKB/Swiss-Prot
    Q7Z2E3
    Conserved Domains (2) summary
    cd01278
    Location:76177
    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:195254
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

RNA

  1. XR_929276.3 RNA Sequence

  2. XR_929277.3 RNA Sequence

  3. XR_001746325.2 RNA Sequence

  4. XR_001746326.2 RNA Sequence

  5. XR_929279.1 RNA Sequence

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.
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