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
-
NG_012821.1 RefSeqGene
- Range
- 4988..34023
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_001195248.1 → NP_001182177.1 aprataxin isoform e
Status: REVIEWED
- Description
- Transcript Variant: This variant (6) lacks an exon in the 5' UTR compared to variant 1. This results in translation initiation at an upstream ATG and an isoform (e) with a longer N-terminus compared to isoform a.
- Source sequence(s)
-
AA494365, AL353717, AY040777, AY208830
- UniProtKB/Swiss-Prot
-
Q7Z2E3
- Related
- ENSP00000369147, OTTHUMP00000021190, ENST00000379819, OTTHUMT00000052028
- Conserved Domains (2) summary
-
- cd00060
Location:20 – 113
Blast Score: 108
- FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
- cd01278
Location:178 – 279
Blast Score: 365
- 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 ...
-
NM_001195249.1 → NP_001182178.1 aprataxin isoform a
Status: REVIEWED
- Description
- Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1 and 7 encode the same isoform (a).
- Source sequence(s)
-
AA494365, AL353717, AY208836, DA664623
- Consensus CDS
-
CCDS47956.1
- UniProtKB/TrEMBL
-
Q6JV85
- UniProtKB/Swiss-Prot
-
Q7Z2E3
- Related
- ENSP00000369141, ENST00000379813
- Conserved Domains (2) summary
-
- cd00060
Location:6 – 99
Blast Score: 108
- FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
- cd01278
Location:164 – 265
Blast Score: 363
- 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 ...
-
NM_001195250.1 → NP_001182179.1 aprataxin isoform f
Status: REVIEWED
- Description
- Transcript Variant: This variant (8) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform f, which is shorter than isoform a.
- Source sequence(s)
-
AA494365, AL353717, AY208830
- Consensus CDS
-
CCDS56568.1
- UniProtKB/Swiss-Prot
-
Q7Z2E3
- Related
- ENSP00000419042, OTTHUMP00000215291, ENST00000476858, OTTHUMT00000355312
- Conserved Domains (2) summary
-
- cd01278
Location:124 – 225
Blast Score: 362
- 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 ...
- TIGR01663
Location:14 – 58
Blast Score: 87
- PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
-
NM_001195251.1 → NP_001182180.1 aprataxin isoform g
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
-
- cd00060
Location:6 – 99
Blast Score: 108
- FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
- cd01278
Location:164 – 265
Blast Score: 365
- 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 ...
-
NM_001195252.1 → NP_001182181.1 aprataxin isoform i
Status: REVIEWED
- Description
- Transcript Variant: This variant (11) has multiple differences compared to variant 1. These differences result in translation initiation at an upstream ATG and an isoform (i) with a longer N-terminus but an overall shorter length compared to isoform a.
- Source sequence(s)
-
AA494365, AY208830, AY208831
- UniProtKB/Swiss-Prot
-
Q7Z2E3
- Related
- ENSP00000380357, OTTHUMP00000215305, ENST00000397172, OTTHUMT00000355327
- Conserved Domains (2) summary
-
- cd01278
Location:106 – 207
Blast Score: 357
- 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 ...
- cl00062
Location:20 – 103
Blast Score: 97
- FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
-
NM_001195254.1 → NP_001182183.1 aprataxin isoform h
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, AL353717, AY208833, DB042208
- UniProtKB/Swiss-Prot
-
Q7Z2E3
- Related
- ENSP00000417649, OTTHUMP00000215307, ENST00000477119, OTTHUMT00000355332
- Conserved Domains (2) summary
-
- cd01278
Location:110 – 211
Blast Score: 360
- 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 ...
- TIGR01663
Location:3 – 44
Blast Score: 85
- PNK-3'Pase; polynucleotide 5'-kinase 3'-phosphatase
-
NM_175069.2 → NP_778239.1 aprataxin isoform b
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) has multiple differences compared to variant 1. These differences result in translation initiation at an upstream ATG and an isoform (b) with a longer N-terminus and a shorter C-terminus compared to isoform a.
- Source sequence(s)
-
AA494365, AK055672, AY208830
- Consensus CDS
-
CCDS6532.1
- UniProtKB/Swiss-Prot
-
Q7Z2E3
- Related
- ENSP00000311547, ENST00000309615
- Conserved Domains (2) summary
-
- cd00060
Location:20 – 113
Blast Score: 107
- FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
- cd01278
Location:178 – 279
Blast Score: 367
- 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 ...
-
NM_175073.2 → NP_778243.1 aprataxin isoform a
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) encodes isoform a. Variants 1 and 7 encode the same isoform (a).
- Source sequence(s)
-
AA494365, AL353717, AY208830, AY208837
- Consensus CDS
-
CCDS47956.1
- UniProtKB/TrEMBL
-
Q6JV85
- UniProtKB/Swiss-Prot
-
Q7Z2E3
- Related
- ENSP00000420263, OTTHUMP00000215302, ENST00000468275, OTTHUMT00000355323
- Conserved Domains (2) summary
-
- cd00060
Location:6 – 99
Blast Score: 108
- FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
- cd01278
Location:164 – 265
Blast Score: 363
- 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 ...
RNA
-
NR_036576.1 RNA Sequence
- Description
- Transcript Variant: This variant (12) 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, AY208840
-
NR_036577.1 RNA Sequence
- 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
-
NR_036578.1 RNA Sequence
- Description
- Transcript Variant: This variant (14) 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, AY208835, DB042208
-
NR_036579.1 RNA Sequence
- Description
- Transcript Variant: This variant (15) 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 7, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
- Source sequence(s)
-
AA494365, AL353717, AY208839, DA664623
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs
for chromosomes and scaffolds (contigs) from both reference and alternate assemblies.
Model RNAs and proteins are also reported here.
Reference GRCh37.p5 Primary Assembly
Genomic
-
NC_000009.11 Reference GRCh37.p5 Primary Assembly
- Range
- 32972604..33001639, complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate HuRef
Genomic
-
AC_000141.1 Alternate HuRef
- Range
- 32930986..32960001, complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
The following Reference Sequences have been suppressed. Explain
These RefSeqs were suppressed for the cited
reason(s). Suppressed RefSeqs do not appear in BLAST databases, related sequence links,
or BLAST links (BLink), but may still be retrieved by clicking on their
accession.version below.
-
NM_017692.2: Suppressed sequence
- Description
- NM_017692.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
-
NM_175072.1: Suppressed sequence
- Description
- NM_175072.1: This RefSeq was permanently suppressed because the transcript is likely partial.