SF3b145/SAP145 Antibody – Rabbit Polyclonal

This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008]

SLC5A7: Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion- dependent. Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Transporter; Transporter, SLC family

Chromosomal Location of Human Ortholog: 2q12

Cellular Component: cell soma; integral to membrane; plasma membrane

Molecular Function: choline binding; choline transmembrane transporter activity; choline:sodium symporter activity

Biological Process: synaptic transmission; acetylcholine biosynthetic process; neurotransmitter secretion; sodium ion transport; neuromuscular synaptic transmission; choline transport; transmembrane transport; synaptic transmission, cholinergic

Disease: Neuronopathy, Distal Hereditary Motor, Type Viia