aprataxin isoform j [Homo sapiens]

Run BLAST
Find regions of similarity between this sequence and other sequences using BLAST.
Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.
Show in Genome Data Viewer
Opens the Genome Data Viewer, NCBI's genome browser, at the genomic location at which this sequence is annotated. View this sequence in the context of other features annotated at the same location and browse to other genome regions.

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. [Stem Cell Res. 2020]
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, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Alzibdeh AM, Khanfar AN, Altantawi AM, Ryalat AT, Sharrack B, et al. Stem Cell Res. 2020 Oct; 48:101925. Epub 2020 Jul 25.
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents. [PLoS One. 2020]
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.
Ababneh NA, Ali D, Al-Kurdi B, Sallam M, Alzibdeh AM, Salah B, Ryalat AT, Azab B, Sharrack B, Awidi A. PLoS One. 2020; 15(8):e0236808. Epub 2020 Aug 4.
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease. [EMBO J. 2018]
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P, Schellenberg MJ, Mueller GA, Fairweather E, Watson M, Little JN, Krahn J, Waddell I, London RE, Williams RS. EMBO J. 2018 Jul 13; 37(14). Epub 2018 Jun 22.

RefSeq genomic sequence
See the genomic reference sequence for the APTX gene (NG_012821.2).
RefSeq mRNA
See reference mRNA sequence for the APTX gene (NM_001369003.1).
RefSeq protein isoforms
See 23 reference sequence protein isoforms for the APTX gene.

BioProject
Proteins related to BioProjects
Nucleotide
Nucleotide sequence from coding region
PubMed
PubMed articles cited by protein sequence record
Taxonomy
Taxonomy sequences associated with protein record
CCDS
Link to Consensus CDS
CDD Search Results
Display conserved domains within a protein
Conserved Domains (Concise)
Link to a concise list of conserved domains in a protein
Conserved Domains (Full)
Link to conserved domains within a protein
Domain Relatives
Display proteins with similar conserved domain architecture
Encoding mRNA
Link from protein to encoding mRNA
Full text in PMC
Free full text articles in PMC
Gene
Link to related Genes
Genome
Genome record encoding protein sequence
Identical Structures
3D structures for identical protein sequences
OMIM
OMIM records associated with protein sequence
PubMed (RefSeq)
Link to RefSeq PubMed articles
PubMed (Weighted)
Links to pubmed

Your browsing activity is empty.

Activity recording is turned off.

Protein