• Gene id: 10558

Gene Summary

• Gene Symbol: SPTLC1   Gene   UCSC   Ensembl
• Aliases: HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI
• Gene name: serine palmitoyltransferase long chain base subunit 1
• Alternate names: serine palmitoyltransferase 1, long chain base biosynthesis protein 1, serine C-palmitoyltransferase, serine-palmitoyl-CoA transferase 1,
• Gene location: 9q22.31 (92115412: 92031140)     Exons: 20     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxo
• OMIM: 605712

Protein Summary

• Protein general information: O15269  
  • Name: Serine palmitoyltransferase 1 (EC 2.3.1.50) (Long chain base biosynthesis protein 1) (LCB 1) (Serine palmitoyl CoA transferase 1) (SPT 1) (SPT1)
  • Length: 473  
  • Mass: 52744
  • Tissue specificity: Widely expressed. Not detected in small intestine. {ECO
• Sequence:

  MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPK
  DHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHLDLED
  RLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQE
  IEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDI
  DLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHK
  ALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTV
  EQTEEELERAASTIKEVAQAVLL

• Structural information:
  • Interpro: IPR004839  IPR015424  IPR015422  IPR015421  
  • DIP: 45626
  • STRING: ENSP00000262554
• Other Databases: GeneCards:  SPTLC1  Malacards:  SPTLC1

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:0005783	endoplasmic reticulum	IBA	cellular component
GO:0004758	serine C-palmitoyltransferase activity	IBA	molecular function
GO:0035339	SPOTS complex	IDA	cellular component
GO:0017059	serine C-palmitoyltransferase complex	IDA	cellular component
GO:0004758	serine C-palmitoyltransferase activity	IDA	molecular function
GO:1904649	regulation of fat cell apoptotic process	ISS	biological process
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009058	biosynthetic process	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
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	TAS	molecular function
GO:0006665	sphingolipid metabolic process	TAS	biological process
GO:0004758	serine C-palmitoyltransferase activity	IEA	molecular function
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:1904504	positive regulation of lipophagy	IDA	biological process
GO:0035339	SPOTS complex	IDA	cellular component
GO:0030148	sphingolipid biosynthetic process	IDA	biological process
GO:0004758	serine C-palmitoyltransferase activity	IDA	contributes to
GO:0004758	serine C-palmitoyltransferase activity	IDA	contributes to
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0046511	sphinganine biosynthetic process	IEA	biological process
GO:0046512	sphingosine biosynthetic process	IEA	biological process
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:1904649	regulation of fat cell apoptotic process	IEA	biological process
GO:0004758	serine C-palmitoyltransferase activity	IEA	molecular function
GO:0006686	sphingomyelin biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	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
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray