UniProt functional annotation for Q92620



	UniProt functional annotation for Q92620

UniProt code: Q92620.

Organism: Homo sapiens (Human).

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

Function: Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:29301961, PubMed:9524131). {ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:9524131, ECO:0000305}.

Catalytic activity: Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;

Subunit: Identified in the spliceosome C complex. {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:29301961}.

Subcellular location: Nucleus {ECO:0000269|PubMed:29301961}.

Disease: Retinitis pigmentosa 84 (RP84) [MIM:618220]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue. {ECO:0000269|PubMed:24737827, ECO:0000269|PubMed:30208423}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the DEAD box helicase family. DEAH subfamily. PRP16 sub-subfamily. {ECO:0000305}.

Sequence caution: Sequence=BAA13213.2; Type=Erroneous initiation; Note=Extended 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:		Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:29301961, PubMed:9524131). {ECO:0000269\|PubMed:29301961, ECO:0000269\|PubMed:9524131, ECO:0000305}.


Catalytic activity:		Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;
Subunit:		Identified in the spliceosome C complex. {ECO:0000269\|PubMed:11991638, ECO:0000269\|PubMed:29301961}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:29301961}.
Disease:		Retinitis pigmentosa 84 (RP84) [MIM:618220]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue. {ECO:0000269\|PubMed:24737827, ECO:0000269\|PubMed:30208423}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the DEAD box helicase family. DEAH subfamily. PRP16 sub-subfamily. {ECO:0000305}.
Sequence caution:		Sequence=BAA13213.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};