SLC44A4

Entrez Summary: The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010].
UniProt Summary: Choline transporter that plays a role in the choline- acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity) (PubMed:23651124, PubMed:28013291). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota- generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis (PubMed:24379411). {ECO:0000250|UniProtKB:Q7T2B0, ECO:0000269|PubMed:23651124, ECO:0000269|PubMed:24379411, ECO:0000269|PubMed:28013291}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

acetylcholine secretion
otolith formation
neuromast hair cell differentiation
lateral line development
acetylcholine transport
neuromast development
neuromast hair cell development
lateral line system development
thiamine pyrophosphate transmembrane transporter activity
thiamine pyrophosphate transmembrane transport
acetate ester biosynthetic process
acetylcholine biosynthetic process
acetate ester transport
otolith morphogenesis
choline transmembrane transporter activity
acetylcholine metabolic process
acetate ester metabolic process
choline transport
otolith development
pyrimidine-containing compound transmembrane transport
azole transport
organic cation transport
hair cell differentiation
phosphatidylcholine biosynthetic process
neurotransmitter biosynthetic process
sulfur compound transport
cofactor transport
ammonium transport
mechanoreceptor differentiation
hormone biosynthetic process
phosphatidylcholine metabolic process
neurotransmitter metabolic process
inner ear morphogenesis
ear morphogenesis
organophosphate ester transport
drug transport
positive regulation of cell growth
neurotransmitter transport
inner ear development
ammonium ion metabolic process