Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55304
Gene name Gene Name - the full gene name approved by the HGNC.
Serine palmitoyltransferase long chain base subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPTLC3
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf38, LCB 3, LCB2B, LCB3, SPT 3, SPT3, SPTLC2L, dJ718P11, dJ718P11.1, hLCB2b
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq,
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs755919784 T>C Likely-pathogenic Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030899 hsa-miR-21-5p Microarray 18591254
MIRT720102 hsa-miR-1-3p HITS-CLIP 19536157
MIRT720101 hsa-miR-206 HITS-CLIP 19536157
MIRT720100 hsa-miR-613 HITS-CLIP 19536157
MIRT720099 hsa-miR-6514-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004758 Function Serine C-palmitoyltransferase activity IBA 21873635
GO:0004758 Function Serine C-palmitoyltransferase activity IDA 19416851, 19648650
GO:0005515 Function Protein binding IPI 19416851
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611120 16253 ENSG00000172296
Protein
UniProt ID Q9NUV7
Protein name Serine palmitoyltransferase 3 (EC 2.3.1.50) (Long chain base biosynthesis protein 2b) (LCB2b) (Long chain base biosynthesis protein 3) (LCB 3) (Serine-palmitoyl-CoA transferase 3) (SPT 3)
Protein function Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00155 Aminotran_1_2 160 520 Aminotransferase class I and II Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in most tissues, except peripheral blood cells and bone marrow, with highest levels in heart, kidney, liver, uterus and skin. {ECO:0000269|PubMed:17023427}.
Sequence
Sequence length 552
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
  Sphingolipid de novo biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Peripheral neuropathy Peripheral Neuropathy rs28940294, rs137852972, rs104894715, rs121918312, rs137852667, rs2101018240, rs149782619, rs397514490, rs62636502, rs797044802, rs879253752, rs879253869, rs777219451, rs538412810, rs759785462
View all (6 more)
26257172
Associations from Text Mining
Disease Name Relationship Type References
Dermatitis Atopic Inhibit 35462437
Diabetes Mellitus Type 2 Associate 33964854
Metabolic Syndrome Associate 34503513, 36011408
Neoplasm Invasiveness Associate 24887297
Neoplasm Metastasis Stimulate 29592877
Personality Disorders Associate 21368711