SLC44A4
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| solute carrier family 44 member 4 | MIM:606107 | Ensembl:ENSG00000204385 | HGNC:HGNC:13941 | PA25930 | 6p21.33 |
GO terms in SLC44A4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006656 | phosphatidylcholine biosynthetic process |
| BP | IMP | GO:0008292 | acetylcholine biosynthetic process |
| BP | IMP | GO:0015871 | choline transport |
| BP | IMP | GO:0030307 | positive regulation of cell growth |
| BP | IDA | GO:0030974 | thiamine pyrophosphate transmembrane transport |
| BP | IMP | GO:0030974 | thiamine pyrophosphate transmembrane transport |
| BP | ISS | GO:0032475 | otolith formation |
| BP | ISS | GO:0035675 | neuromast hair cell development |
| BP | TAS | GO:0055085 | transmembrane transport |
| BP | IMP | GO:0061526 | acetylcholine secretion |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016324 | apical plasma membrane |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IMP | GO:0015220 | choline transmembrane transporter activity |
| MF | TAS | GO:0015220 | choline transmembrane transporter activity |
| MF | IMP | GO:0090422 | thiamine pyrophosphate transmembrane transporter activity |
Gene expression in normal tissue: SLC44A4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC44A4
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa05231 | Choline metabolism in cancer - Homo sapiens (human) |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1483191 | Synthesis of PC |
| reactome | R-HSA-1483206 | Glycerophospholipid biosynthesis |
| reactome | R-HSA-1483257 | Phospholipid metabolism |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-425366 | Transport of bile salts and organic acids, metal ions and amine compounds |
| reactome | R-HSA-425407 | SLC-mediated transmembrane transport |
| reactome | R-HSA-556833 | Metabolism of lipids |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC44A4
CLASSFICATION
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