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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:606107 Ensembl IDEnsembl:ENSG00000204385 HGNC IDHGNC:HGNC:13941 PHARMGKB IDPA25930 Map Location6p21.33 | |||||
GO terms in SLC44A4
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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 |
Gene expression in normal tissue: SLC44A4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC44A4
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD1005 | SLC44A4 inhibitor | 2 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC44A4
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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