Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:hereditary_sensory_and_autonomic_neuropathy_type_I
|
| gptkbp:encodes |
serine palmitoyltransferase long chain base subunit 1
|
| gptkbp:Entrez_Gene_ID |
10558
|
| gptkbp:enzymeCommissionNumber |
2.3.1.50
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
catalyzes the first step in sphingolipid biosynthesis
|
| gptkbp:HGNC_ID |
11287
|
| https://www.w3.org/2000/01/rdf-schema#label |
SPTLC1
|
| gptkbp:interactsWith |
gptkb:SPTLC2
gptkb:SPTLC3 |
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
| gptkbp:mutationAssociatedWith |
peripheral neuropathy
|
| gptkbp:OMIM |
605712
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Sptlc1
|
| gptkbp:product |
SPTLC1 protein
|
| gptkbp:subcellularLocation |
gptkb:endoplasmic_reticulum
|
| gptkbp:UniProtID |
O15269
|
| gptkbp:bfsParent |
gptkb:serine_palmitoyltransferase
|
| gptkbp:bfsLayer |
8
|