Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:hereditary_sensory_and_autonomic_neuropathy_type_I
|
| gptkbp:biologicalProcess |
transferase activity
sphingolipid metabolic process |
| gptkbp:component |
serine palmitoyltransferase complex
|
| gptkbp:encodes |
serine palmitoyltransferase long chain base subunit 2
|
| gptkbp:Entrez_Gene_ID |
ENSG00000140943
9514 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
catalyzes the first step in sphingolipid biosynthesis
|
| gptkbp:HGNC_ID |
HGNC:11288
|
| https://www.w3.org/2000/01/rdf-schema#label |
SPTLC2
|
| gptkbp:length |
427 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_14
|
| gptkbp:OMIM |
605713
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Sptlc2
|
| gptkbp:RefSeq |
NM_004863
|
| gptkbp:subcellularLocation |
endoplasmic reticulum membrane
|
| gptkbp:UniProtID |
O15269
|
| gptkbp:bfsParent |
gptkb:serine_palmitoyltransferase
|
| gptkbp:bfsLayer |
8
|