• Gene id: 55304

Gene Summary

• Gene Symbol: SPTLC3   Gene   UCSC   Ensembl
• Aliases: C20orf38, LCB 3, LCB2B, LCB3, SPT 3, SPT3, SPTLC2L, dJ718P11, dJ718P11.1, hLCB2b
• Gene name: serine palmitoyltransferase long chain base subunit 3
• Alternate names: serine palmitoyltransferase 3, long chain base biosynthesis protein 2b, long chain base biosynthesis protein 3, serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2), serine-palmitoyl-CoA transferase 3,
• Gene location: 20p12.1 (13008971: 13169102)     Exons: 2     NC_000020.11
• Gene summary(Entrez): 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,
• OMIM: 611120

Protein Summary

• Protein general information: Q9NUV7  
  • 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)
  • Length: 552  
  • Mass: 62049
  • Tissue specificity: Expressed in most tissues, except peripheral blood cells and bone marrow, with highest levels in heart, kidney, liver, uterus and skin. {ECO
• Sequence:

  MANPGGGAVCNGKLHNHKKQSNGSQSRNCTKNGIVKEAQQNGKPHFYDKLIVESFEEAPLHVMVFTYMGYGIGTL
  FGYLRDFLRNWGIEKCNAAVERKEQKDFVPLYQDFENFYTRNLYMRIRDNWNRPICSAPGPLFDLMERVSDDYNW
  TFRFTGRVIKDVINMGSYNFLGLAAKYDESMRTIKDVLEVYGTGVASTRHEMGTLDKHKELEDLVAKFLNVEAAM
  VFGMGFATNSMNIPALVGKGCLILSDELNHTSLVLGARLSGATIRIFKHNNTQSLEKLLRDAVIYGQPRTRRAWK
  KILILVEGVYSMEGSIVHLPQIIALKKKYKAYLYIDEAHSIGAVGPTGRGVTEFFGLDPHEVDVLMGTFTKSFGA
  SGGYIAGRKDLVDYLRVHSHSAVYASSMSPPIAEQIIRSLKLIMGLDGTTQGLQRVQQLAKNTRYFRQRLQEMGF
  IIYGNENASVVPLLLYMPGKVAAFARHMLEKKIGVVVVGFPATPLAEARARFCVSAAHTREMLDTVLEALDEMGD
  LLQLKYSRHKKSARPELYDETSFELED

• Structural information:
  • Interpro: IPR001917  IPR004839  IPR015424  IPR015422  IPR015421  
  • Prosite: PS00599
  • DIP: 60753
  • STRING: ENSP00000381968
• Other Databases: GeneCards:  SPTLC3  Malacards:  SPTLC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0046512	sphingosine biosynthetic process	IBA	biological process
GO:0017059	serine C-palmitoyltransferase complex	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004758	serine C-palmitoyltransferase activity	IBA	molecular function
GO:0017059	serine C-palmitoyltransferase complex	IDA	cellular component
GO:0004758	serine C-palmitoyltransferase activity	IDA	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004758	serine C-palmitoyltransferase activity	IEA	molecular function
GO:0046520	sphingoid biosynthetic process	IDA	biological process
GO:0017059	serine C-palmitoyltransferase complex	IDA	cellular component
GO:0004758	serine C-palmitoyltransferase activity	IDA	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04071	Sphingolipid signaling pathway
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq