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].

solute carrier family 44 member 4MIM:606107Ensembl:ENSG00000204385HGNC:HGNC:13941PA259306p21.33

GO terms in SLC44A4

Term TypeEvidence TypeGO Term IDGO Des.
BPTASGO:0006656phosphatidylcholine biosynthetic process
BPIMPGO:0008292acetylcholine biosynthetic process
BPIMPGO:0015871choline transport
BPIMPGO:0030307positive regulation of cell growth
BPIDAGO:0030974thiamine pyrophosphate transmembrane transport
BPIMPGO:0030974thiamine pyrophosphate transmembrane transport
BPISSGO:0032475otolith formation
BPISSGO:0035675neuromast hair cell development
BPTASGO:0055085transmembrane transport
BPIMPGO:0061526acetylcholine secretion
CCIDAGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCIEAGO:0016021integral component of membrane
CCIDAGO:0016324apical plasma membrane
CCHDAGO:0070062extracellular exosome
MFIMPGO:0015220choline transmembrane transporter activity
MFTASGO:0015220choline transmembrane transporter activity
MFIMPGO:0090422thiamine pyrophosphate transmembrane transporter activity

Gene expression in normal tissue: SLC44A4

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SLC44A4

DatabasePathway IDPathway Des.
kegghsa05231Choline metabolism in cancer - Homo sapiens (human)
reactomeR-HSA-1483191Synthesis of PC
reactomeR-HSA-1483206Glycerophospholipid biosynthesis
reactomeR-HSA-1483257Phospholipid metabolism
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-425366Transport of bile salts and organic acids, metal ions and amine compounds
reactomeR-HSA-425407SLC-mediated transmembrane transport
reactomeR-HSA-556833Metabolism of lipids

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.
iGMDRD1005SLC44A4 inhibitor2

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SLC44A4