UniProt functional annotation for Q9BZJ0



	UniProt functional annotation for Q9BZJ0

UniProt code: Q9BZJ0.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Involved in pre-mRNA splicing process. {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12084575, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}.

Subunit: Identified in the spliceosome C complex (PubMed:11991638, PubMed:28502770, PubMed:28076346). Present in a spliceosome complex assembled in vitro containing CRNKL1, HPRP8BP and SNRPB2 (PubMed:12084575). Isoform 2 seems to be predominant in the spliceosome complex (PubMed:12084575). Interacts with PPIL2 (via the PPIase cyclophilin-type domain); they may form a trimeric complex with HSP90 (PubMed:15189447). {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12084575, ECO:0000269|PubMed:15189447}.

Subcellular location: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12801913, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}. Nucleus speckle {ECO:0000269|PubMed:12084575}. Note=Colocalizes with core spliceosomal snRNP proteins (PubMed:12084575). {ECO:0000269|PubMed:12084575}.

Tissue specificity: Widely expressed (PubMed:11342225). Highly expressed in testis (PubMed:12084575). Not detected in brain and lung (PubMed:12084575). {ECO:0000269|PubMed:11342225, ECO:0000269|PubMed:12084575}.

Miscellaneous: [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}.

Miscellaneous: [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}.

Similarity: Belongs to the crooked-neck family. {ECO:0000305}.

Sequence caution: Sequence=BAB14303.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14485.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Involved in pre-mRNA splicing process. {ECO:0000269\|PubMed:11991638, ECO:0000269\|PubMed:12084575, ECO:0000269\|PubMed:28076346, ECO:0000269\|PubMed:28502770}.


Subunit:		Identified in the spliceosome C complex (PubMed:11991638, PubMed:28502770, PubMed:28076346). Present in a spliceosome complex assembled in vitro containing CRNKL1, HPRP8BP and SNRPB2 (PubMed:12084575). Isoform 2 seems to be predominant in the spliceosome complex (PubMed:12084575). Interacts with PPIL2 (via the PPIase cyclophilin-type domain); they may form a trimeric complex with HSP90 (PubMed:15189447). {ECO:0000269\|PubMed:11991638, ECO:0000269\|PubMed:12084575, ECO:0000269\|PubMed:15189447}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:11991638, ECO:0000269\|PubMed:12801913, ECO:0000269\|PubMed:28076346, ECO:0000269\|PubMed:28502770}. Nucleus speckle {ECO:0000269\|PubMed:12084575}. Note=Colocalizes with core spliceosomal snRNP proteins (PubMed:12084575). {ECO:0000269\|PubMed:12084575}.
Tissue specificity:		Widely expressed (PubMed:11342225). Highly expressed in testis (PubMed:12084575). Not detected in brain and lung (PubMed:12084575). {ECO:0000269\|PubMed:11342225, ECO:0000269\|PubMed:12084575}.
Miscellaneous:		[Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}.
Miscellaneous:		[Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}.
Similarity:		Belongs to the crooked-neck family. {ECO:0000305}.
Sequence caution:		Sequence=BAB14303.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14485.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};