UniProt functional annotation for Q6UX04



	UniProt functional annotation for Q6UX04

UniProt code: Q6UX04.

Organism: Homo sapiens (Human).

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

Function: As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357). {ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:29360106}.

Subunit: Part of the activated spliceosome B/catalytic step 1 spliceosome, one of the forms of the spliceosome which has a well- formed active site but still cannot catalyze the branching reaction and is composed at least of 52 proteins, the U2, U5 and U6 snRNAs and the pre-mRNA. Recruited during early steps of activated spliceosome B maturation, it is probably one of the first proteins released from this complex as he matures to the spliceosome C complex. {ECO:0000269|PubMed:29360106}.

Subcellular location: Nucleus {ECO:0000305|PubMed:29360106}.

Disease: Retinitis pigmentosa with or without skeletal anomalies (RPSKA) [MIM:250410]: An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation. {ECO:0000269|PubMed:28285769}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the cyclophilin-type PPIase family. {ECO:0000305}.

Sequence caution: Sequence=AAC18041.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAC18042.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH12117.1; Type=Erroneous initiation; 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:		As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357). {ECO:0000269\|PubMed:20676357, ECO:0000269\|PubMed:29360106}.


Subunit:		Part of the activated spliceosome B/catalytic step 1 spliceosome, one of the forms of the spliceosome which has a well- formed active site but still cannot catalyze the branching reaction and is composed at least of 52 proteins, the U2, U5 and U6 snRNAs and the pre-mRNA. Recruited during early steps of activated spliceosome B maturation, it is probably one of the first proteins released from this complex as he matures to the spliceosome C complex. {ECO:0000269\|PubMed:29360106}.
Subcellular location:		Nucleus {ECO:0000305\|PubMed:29360106}.
Disease:		Retinitis pigmentosa with or without skeletal anomalies (RPSKA) [MIM:250410]: An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation. {ECO:0000269\|PubMed:28285769}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the cyclophilin-type PPIase family. {ECO:0000305}.
Sequence caution:		Sequence=AAC18041.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAC18042.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH12117.1; Type=Erroneous initiation; Evidence={ECO:0000305};