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HomoloGene:41634. Gene conserved in Euteleostomi Download , Links
Genes
Genes identified as putative homologs of one another during the construction of HomoloGene.

Proteins
Proteins used in sequence comparisons and their conserved domain architectures.

   APTX,  H.sapiens
aprataxin
    NP_001182177.1
356 aa
   APTX,  P.troglodytes
aprataxin
    XP_001158355.1
356 aa
   APTX,  M.mulatta
aprataxin
    XP_002800109.1
356 aa
   APTX,  C.lupus
aprataxin
    NP_001003355.1
342 aa
   APTX,  B.taurus
aprataxin
    NP_872595.1
356 aa
   Aptx,  M.musculus
aprataxin
    NP_079821.3
342 aa
   Aptx,  R.norvegicus
aprataxin
    NP_683687.1
329 aa
   APTX,  G.gallus
aprataxin
    XP_004949669.1
389 aa
   aptx,  X.tropicalis
aprataxin
    NP_991394.1
347 aa
   aptx,  D.rerio
aprataxin
    NP_999894.1
324 aa


Protein Alignments
Protein multiple alignment, pairwise similarity scores and evolutionary distances.

Show Multiple Alignment

Show Pairwise Alignment Scores

Pairwise alignments generated using BLAST
Regenerate Alignments




Phenotypes
Phenotypic information for the genes in this entry imported from model organism databases.

H.sapiens
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.
Coenzyme Q10 deficiency.



Publications
Articles associated with genes and sequences of this homology group.

Aprataxin localizes to mitochondria and preserves mitochondrial function.
Sykora P, et al. Proc Natl Acad Sci U S A 108, 7437-42 (2011).
Ataxia with Oculomotor Apraxia Type 1
Coutinho P, et al. (1993).



Conserved Domains
Conserved Domains from CDD found in protein sequences by rpsblast searching.
FHA (cl00062)
  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 localize to the nucleus, where they participate in establishing or maintaining cell cycle checkpoints, DNA repair, or transcriptional regulation. Members of the FHA family include: Dun1, Rad53, Cds1, Mek1, KAPP(kinase-associated protein phosphatase),and Ki-67 (a human nuclear protein related to cell proliferation).
HIT_like (cl00228)
  HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...



Related Homology Resources
Links to curated and computed homology information found in other databases.
Orthology group for M.musculus Aptx includes H.sapiens APTX and R.norvegicus Aptx.



UniGene
Links to UniGene entries found by comparing the homologous proteins against the transcript database.

Chordata
Mammalia - mammals (14 transcripts, 12 species)
Actinopterygii - bony fishes (5 transcripts, 5 species)
Aves - birds (2 transcripts, 2 species)
Amphibia - amphibians (2 transcripts, 2 species)
Amniota - vertebrates (1 transcript, 1 species)
Ascidiacea - tunicates (1 transcript, 1 species)

Arthropoda
Insecta - insects (3 transcripts, 2 species)
Malacostraca - crustaceans (1 transcript, 1 species)

Mollusca
Gastropoda - gastropods (1 transcript, 1 species)

Annelida
Polychaeta - segmented worms (1 transcript, 1 species)

Echinodermata
Echinoidea - sea urchins (1 transcript, 1 species)

Streptophyta
Eudicotyledons - eudicots (1 transcript, 1 species)
Bryopsida - mosses (1 transcript, 1 species)

Chlorophyta
Chlorophyceae - green algae (1 transcript, 1 species)

 

 

 

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