UniProt functional annotation for Q13435



	UniProt functional annotation for Q13435

UniProt code: Q13435.

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 as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077). {ECO:0000269|PubMed:10882114, ECO:0000269|PubMed:12234937, ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:27720643}.

Subunit: Identified in the spliceosome C complex (PubMed:11991638). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome (PubMed:15146077). Component of splicing factor SF3B which is composed of at least eight subunits; SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6, PHF5A and DDX42 (PubMed:12234937, PubMed:12738865, PubMed:27720643, PubMed:28541300). SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP) (PubMed:12234937). Interacts directly with SF3B4 (PubMed:25737013). The SF3B complex composed of SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6 and PHF5A interacts with U2AF2 (PubMed:27720643). Found in a complex with PRMT9, SF3B2 and SF3B4 (PubMed:25737013). Interacts (Arg-508-methylated form) with SMN1 (via Tudor domain) (PubMed:25737013). Interacts with RBM7 (PubMed:27905398). Interacts with ERCC6 (PubMed:26030138). {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12234937, ECO:0000269|PubMed:12738865, ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:25737013, ECO:0000269|PubMed:26030138, ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:27905398, ECO:0000269|PubMed:28541300}.

Subunit: (Microbial infection) Interacts with HIV-1 Vpr. {ECO:0000269|PubMed:16923959}.

Subcellular location: Nucleus {ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:28541300}. Nucleus speckle {ECO:0000269|PubMed:16923959}.

Ptm: Methylation at Arg-508 by PRMT9 is required for the interaction with SMN1. {ECO:0000269|PubMed:25737013}.

Sequence caution: Sequence=AAA97461.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAA97461.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH53577.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAG61831.1; 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 as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077). {ECO:0000269\|PubMed:10882114, ECO:0000269\|PubMed:12234937, ECO:0000269\|PubMed:15146077, ECO:0000269\|PubMed:27720643}.


Subunit:		Identified in the spliceosome C complex (PubMed:11991638). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome (PubMed:15146077). Component of splicing factor SF3B which is composed of at least eight subunits; SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6, PHF5A and DDX42 (PubMed:12234937, PubMed:12738865, PubMed:27720643, PubMed:28541300). SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP) (PubMed:12234937). Interacts directly with SF3B4 (PubMed:25737013). The SF3B complex composed of SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6 and PHF5A interacts with U2AF2 (PubMed:27720643). Found in a complex with PRMT9, SF3B2 and SF3B4 (PubMed:25737013). Interacts (Arg-508-methylated form) with SMN1 (via Tudor domain) (PubMed:25737013). Interacts with RBM7 (PubMed:27905398). Interacts with ERCC6 (PubMed:26030138). {ECO:0000269\|PubMed:11991638, ECO:0000269\|PubMed:12234937, ECO:0000269\|PubMed:12738865, ECO:0000269\|PubMed:15146077, ECO:0000269\|PubMed:25737013, ECO:0000269\|PubMed:26030138, ECO:0000269\|PubMed:27720643, ECO:0000269\|PubMed:27905398, ECO:0000269\|PubMed:28541300}.
Subunit:		(Microbial infection) Interacts with HIV-1 Vpr. {ECO:0000269\|PubMed:16923959}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:27720643, ECO:0000269\|PubMed:28541300}. Nucleus speckle {ECO:0000269\|PubMed:16923959}.
Ptm:		Methylation at Arg-508 by PRMT9 is required for the interaction with SMN1. {ECO:0000269\|PubMed:25737013}.
Sequence caution:		Sequence=AAA97461.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAA97461.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH53577.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAG61831.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};