SPTLC3 (serine palmitoyltransferase long chain base subunit 3)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55304 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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Serine palmitoyltransferase long chain base subunit 3 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SPTLC3 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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C20orf38, LCB 3, LCB2B, LCB3, SPT 3, SPT3, SPTLC2L, dJ718P11, dJ718P11.1, hLCB2b |
Chromosome
Chromosome number
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20 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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20p12.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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
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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 |
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Sequence length | 552 | ||||||||||
Interactions | View interactions |
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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