Details for: SPTLC2

Gene ID: 9517

Symbol: SPTLC2

Ensembl ID: ENSG00000100596

Description: serine palmitoyltransferase long chain base subunit 2

Associated with

Other Information

Genular Protein ID: 649029675

Symbol: SPTC2_HUMAN

Name: Long chain base biosynthesis protein 2

UniProtKB Accession Codes:

O15270 Q16685

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 13 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 5 EMDB 6 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 11 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 40 PDBsum 17 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 3 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9363775

Title: Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis.

PubMed ID: 9363775

DOI: 10.1111/j.1432-1033.1997.00239.x

PubMed ID: 9628581

Title: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9628581

DOI: 10.1093/dnares/5.1.31

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8921873

Title: Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase.

PubMed ID: 8921873

DOI: 10.1016/0378-1119(96)00309-5

PubMed ID: 7506601

Title: A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones.

PubMed ID: 7506601

DOI: 10.1093/hmg/2.11.1793

PubMed ID: 17023427

Title: Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.

PubMed ID: 17023427

DOI: 10.1074/jbc.m608066200

PubMed ID: 19648650

Title: The SPTLC3 subunit of serine palmitoyltransferase generates short chain sphingoid bases.

PubMed ID: 19648650

DOI: 10.1074/jbc.m109.023192

PubMed ID: 19416851

Title: Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.

PubMed ID: 19416851

DOI: 10.1073/pnas.0811269106

PubMed ID: 20920666

Title: Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

PubMed ID: 20920666

DOI: 10.1016/j.ajhg.2010.09.010

PubMed ID: 20504773

Title: A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.

PubMed ID: 20504773

DOI: 10.1074/jbc.m110.122259

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21994399

Title: MicroRNA-137/181c regulates serine palmitoyltransferase and in turn amyloid beta, novel targets in sporadic Alzheimer's disease.

PubMed ID: 21994399

DOI: 10.1523/jneurosci.3883-11.2011

PubMed ID: 30700557

Title: The ORMDL/Orm-serine palmitoyltransferase (SPT) complex is directly regulated by ceramide: Reconstitution of SPT regulation in isolated membranes.

PubMed ID: 30700557

DOI: 10.1074/jbc.ra118.007291

PubMed ID: 33558761

Title: Structural insights into the regulation of human serine palmitoyltransferase complexes.

PubMed ID: 33558761

DOI: 10.1038/s41594-020-00551-9

PubMed ID: 33558762

Title: Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex.

PubMed ID: 33558762

DOI: 10.1038/s41594-020-00553-7

PubMed ID: 37308477

Title: Ceramide sensing by human SPT-ORMDL complex for establishing sphingolipid homeostasis.

PubMed ID: 37308477

DOI: 10.1038/s41467-023-39274-y

PubMed ID: 23658386

Title: Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

PubMed ID: 23658386

DOI: 10.1212/wnl.0b013e318295d789

PubMed ID: 26573920

Title: The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

PubMed ID: 26573920

DOI: 10.1007/s12017-015-8379-1

Sequence Information:

  • Length: 562
  • Mass: 62924
  • Checksum: 0C1AA1E233DE36F1
  • Sequence:
    • MRPEPGGCCC RRTVRANGCV ANGEVRNGYV RSSAAAAAAA AAGQIHHVTQ NGGLYKRPFN 
EAFEETPMLV AVLTYVGYGV LTLFGYLRDF LRYWRIEKCH HATEREEQKD FVSLYQDFEN 
FYTRNLYMRI RDNWNRPICS VPGARVDIME RQSHDYNWSF KYTGNIIKGV INMGSYNYLG 
FARNTGSCQE AAAKVLEEYG AGVCSTRQEI GNLDKHEELE ELVARFLGVE AAMAYGMGFA 
TNSMNIPALV GKGCLILSDE LNHASLVLGA RLSGATIRIF KHNNMQSLEK LLKDAIVYGQ 
PRTRRPWKKI LILVEGIYSM EGSIVRLPEV IALKKKYKAY LYLDEAHSIG ALGPTGRGVV 
EYFGLDPEDV DVMMGTFTKS FGASGGYIGG KKELIDYLRT HSHSAVYATS LSPPVVEQII 
TSMKCIMGQD GTSLGKECVQ QLAENTRYFR RRLKEMGFII YGNEDSPVVP LMLYMPAKIG 
AFGREMLKRN IGVVVVGFPA TPIIESRARF CLSAAHTKEI LDTALKEIDE VGDLLQLKYS 
RHRLVPLLDR PFDETTYEET ED

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.