RecName: Full=Pseudouridylate synthase 1 homolog; AltName: Full=tRNA p - Protein

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.

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood. [Eur J Hum Genet. 2015]
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
Metodiev MD, Assouline Z, Landrieu P, Chretien D, Bader-Meunier B, Guitton C, Munnich A, Rötig A. Eur J Hum Genet. 2015 Jun; 23(6):880-2. Epub 2014 Sep 17.
Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1. [RNA. 2008]
Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.
Sibert BS, Fischel-Ghodsian N, Patton JR. RNA. 2008 Sep; 14(9):1895-906. Epub 2008 Jul 22.
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). [J Med Genet. 2007]
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M. J Med Genet. 2007 Mar; 44(3):173-80. Epub 2006 Oct 20.

RefSeq genomic sequence
See the genomic reference sequence for the PUS1 gene (NG_013039.2).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the PUS1 gene.

PubMed
PubMed articles cited by protein sequence record
Taxonomy
Taxonomy sequences associated with protein record
BioSystems
BioSystems
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
Full text in PMC
Free full text articles in PMC
Gene
Link to related Genes
Identical Structures
3D structures for identical protein sequences
OMIM
OMIM records associated with protein sequence
Protein (RefSeq)
Protein gi (UniProtKB) to protein gi (refseq)
PubMed (Weighted)
Links to pubmed
Related Structures (List)
List of related structures

Q9Y606 [Domain Mapping of Disease Mut...]
Q9Y606
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

Rattus norvegicus SPARC like 1 (Sparcl1), mRNA
Rattus norvegicus SPARC like 1 (Sparcl1), mRNA
gi|1937369344|ref|NM_012946.2|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Protein