SPTLC1: Difference between revisions

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{{Infobox_gene}}
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'''Serine palmitoyltransferase, long chain base subunit 1''', also known as '''SPTLC1''', is a [[protein]] which in humans is encoded by the ''SPTLC1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10558| accessdate = }}</ref><ref name="pmid9363775">{{cite journal | vauthors = Weiss B, Stoffel W | title = Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis | journal = Eur. J. Biochem. | volume = 249 | issue = 1 | pages = 239–47 |date=October 1997 | pmid = 9363775 | doi = 10.1111/j.1432-1033.1997.00239.x  | url =   }}</ref>
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[[Serine C-palmitoyltransferase|Serine palmitoyltransferase]], which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-[[serine]] and [[palmitoyl CoA]] to 3-oxosphinganine with [[pyridoxal phosphate|pyridoxal 5'-phosphate]] as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with [[hereditary sensory neuropathy]] type 1. Alternatively spliced variants encoding different isoforms have been identified.<ref name="entrez"/>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Serine palmitoyltransferase, long chain base subunit 1
| HGNCid = 11277
| Symbol = SPTLC1
| AltSymbols =; HSAN; HSAN1; HSN1; LBC1; LCB1; MGC14645; SPT1; SPTI
| OMIM = 605712
| ECnumber = 
| Homologene = 4681
| MGIid = 1099431
| Function = {{GNF_GO|id=GO:0004758 |text = serine C-palmitoyltransferase activity}} {{GNF_GO|id=GO:0008415 |text = acyltransferase activity}} {{GNF_GO|id=GO:0008483 |text = transaminase activity}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0016769 |text = transferase activity, transferring nitrogenous groups}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006665 |text = sphingolipid metabolic process}} {{GNF_GO|id=GO:0009058 |text = biosynthetic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10558
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_006406
    | Hs_RefseqmRNA = NM_006415
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 268656
    | Mm_Ensembl = ENSMUSG00000021468
    | Mm_RefseqmRNA = NM_009269
    | Mm_RefseqProtein = NP_033295
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 13
    | Mm_GenLoc_start = 53340250
    | Mm_GenLoc_end = 53384899
    | Mm_Uniprot = Q3TST8
  }}
}}
'''Serine palmitoyltransferase, long chain base subunit 1''', also known as '''SPTLC1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10558| accessdate = }}</ref>


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==References==
{{PBB_Summary
{{reflist}}
| section_title =  
| summary_text = Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified.<ref name="entrez">{{cite web | title = Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10558| accessdate = }}</ref>
}}


==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Weiss B, Stoffel W |title=Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis. |journal=Eur. J. Biochem. |volume=249 |issue= 1 |pages= 239-47 |year= 1997 |pmid= 9363775 |doi=  }}
*{{cite journal  | vauthors=Weiss B, Stoffel W |title=Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis. |journal=Eur. J. Biochem. |volume=249 |issue= 1 |pages= 239–47 |year= 1997 |pmid= 9363775 |doi=10.1111/j.1432-1033.1997.00239.x }}
*{{cite journal | author=Gable K, Slife H, Bacikova D, ''et al.'' |title=Tsc3p is an 80-amino acid protein associated with serine palmitoyltransferase and required for optimal enzyme activity. |journal=J. Biol. Chem. |volume=275 |issue= 11 |pages= 7597-603 |year= 2000 |pmid= 10713067 |doi=  }}
*{{cite journal   |vauthors=Gable K, Slife H, Bacikova D, etal |title=Tsc3p is an 80-amino acid protein associated with serine palmitoyltransferase and required for optimal enzyme activity. |journal=J. Biol. Chem. |volume=275 |issue= 11 |pages= 7597–603 |year= 2000 |pmid= 10713067 |doi=10.1074/jbc.275.11.7597 }}
*{{cite journal  | author=Hanada K, Hara T, Nishijima M |title=Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques. |journal=J. Biol. Chem. |volume=275 |issue= 12 |pages= 8409-15 |year= 2000 |pmid= 10722674 |doi=  }}
*{{cite journal  | vauthors=Hanada K, Hara T, Nishijima M |title=Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques. |journal=J. Biol. Chem. |volume=275 |issue= 12 |pages= 8409–15 |year= 2000 |pmid= 10722674 |doi=10.1074/jbc.275.12.8409 }}
*{{cite journal | author=Perry DK, Carton J, Shah AK, ''et al.'' |title=Serine palmitoyltransferase regulates de novo ceramide generation during etoposide-induced apoptosis. |journal=J. Biol. Chem. |volume=275 |issue= 12 |pages= 9078-84 |year= 2000 |pmid= 10722759 |doi=  }}
*{{cite journal   |vauthors=Perry DK, Carton J, Shah AK, etal |title=Serine palmitoyltransferase regulates de novo ceramide generation during etoposide-induced apoptosis. |journal=J. Biol. Chem. |volume=275 |issue= 12 |pages= 9078–84 |year= 2000 |pmid= 10722759 |doi=10.1074/jbc.275.12.9078 }}
*{{cite journal | author=Bejaoui K, Wu C, Scheffler MD, ''et al.'' |title=SPTLC1 is mutated in hereditary sensory neuropathy, type 1. |journal=Nat. Genet. |volume=27 |issue= 3 |pages= 261-2 |year= 2001 |pmid= 11242106 |doi= 10.1038/85817 }}
*{{cite journal   |vauthors=Bejaoui K, Wu C, Scheffler MD, etal |title=SPTLC1 is mutated in hereditary sensory neuropathy, type 1. |journal=Nat. Genet. |volume=27 |issue= 3 |pages= 261–2 |year= 2001 |pmid= 11242106 |doi= 10.1038/85817 }}
*{{cite journal | author=Dawkins JL, Hulme DJ, Brahmbhatt SB, ''et al.'' |title=Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. |journal=Nat. Genet. |volume=27 |issue= 3 |pages= 309-12 |year= 2001 |pmid= 11242114 |doi= 10.1038/85879 }}
*{{cite journal   |vauthors=Dawkins JL, Hulme DJ, Brahmbhatt SB, etal |title=Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. |journal=Nat. Genet. |volume=27 |issue= 3 |pages= 309–12 |year= 2001 |pmid= 11242114 |doi= 10.1038/85879 }}
*{{cite journal | author=Nicholson GA, Dawkins JL, Blair IP, ''et al.'' |title=Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. |journal=Am. J. Hum. Genet. |volume=69 |issue= 3 |pages= 655-9 |year= 2001 |pmid= 11479835 |doi=  }}
*{{cite journal   |vauthors=Nicholson GA, Dawkins JL, Blair IP, etal |title=Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. |journal=Am. J. Hum. Genet. |volume=69 |issue= 3 |pages= 655–9 |year= 2001 |pmid= 11479835 |doi=10.1086/323252  | pmc=1235494 }}
*{{cite journal | author=Stachowitz S, Alessandrini F, Abeck D, ''et al.'' |title=Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis. |journal=J. Invest. Dermatol. |volume=119 |issue= 5 |pages= 1048-52 |year= 2003 |pmid= 12445191 |doi= 10.1046/j.1523-1747.2002.19524.x }}
*{{cite journal   |vauthors=Stachowitz S, Alessandrini F, Abeck D, etal |title=Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis. |journal=J. Invest. Dermatol. |volume=119 |issue= 5 |pages= 1048–52 |year= 2003 |pmid= 12445191 |doi= 10.1046/j.1523-1747.2002.19524.x }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal  | author=CAMPBELL AM, HOFFMAN HL |title=SENSORY RADICULAR NEUROPATHY ASSOCIATED WITH MUSCLE WASTING IN TWO CASES. |journal=Brain |volume=87 |issue=  |pages= 67-74 |year= 1996 |pmid= 14152213 |doi=  }}
*{{cite journal  | vauthors=CAMPBELL AM, HOFFMAN HL |title=SENSORY RADICULAR NEUROPATHY ASSOCIATED WITH MUSCLE WASTING IN TWO CASES. |journal=Brain |volume=87 |issue=  |pages= 67–74 |year= 1996 |pmid= 14152213 |doi=10.1093/brain/87.1.67 }}
*{{cite journal | author=Verhoeven K, Coen K, De Vriendt E, ''et al.'' |title=SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. |journal=Neurology |volume=62 |issue= 6 |pages= 1001-2 |year= 2004 |pmid= 15037712 |doi=  }}
*{{cite journal   |vauthors=Verhoeven K, Coen K, De Vriendt E, etal |title=SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. |journal=Neurology |volume=62 |issue= 6 |pages= 1001–2 |year= 2004 |pmid= 15037712 |doi=  10.1212/01.wnl.0000115388.10828.5c}}
*{{cite journal | author=Humphray SJ, Oliver K, Hunt AR, ''et al.'' |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369-74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465 }}
*{{cite journal   |vauthors=Humphray SJ, Oliver K, Hunt AR, etal |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369–74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465 | pmc=2734081 }}
*{{cite journal  | author=Dedov VN, Dedova IV, Nicholson GA |title=Hypoxia causes aggregation of serine palmitoyltransferase followed by non-apoptotic death of human lymphocytes. |journal=Cell Cycle |volume=3 |issue= 10 |pages= 1271-7 |year= 2006 |pmid= 15467453 |doi=  }}
*{{cite journal  | vauthors=Dedov VN, Dedova IV, Nicholson GA |title=Hypoxia causes aggregation of serine palmitoyltransferase followed by non-apoptotic death of human lymphocytes. |journal=Cell Cycle |volume=3 |issue= 10 |pages= 1271–7 |year= 2006 |pmid= 15467453 |doi=  10.4161/cc.3.10.1163}}
*{{cite journal | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal   |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal | author=McCampbell A, Truong D, Broom DC, ''et al.'' |title=Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. |journal=Hum. Mol. Genet. |volume=14 |issue= 22 |pages= 3507-21 |year= 2006 |pmid= 16210380 |doi= 10.1093/hmg/ddi380 }}
*{{cite journal   |vauthors=McCampbell A, Truong D, Broom DC, etal |title=Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. |journal=Hum. Mol. Genet. |volume=14 |issue= 22 |pages= 3507–21 |year= 2006 |pmid= 16210380 |doi= 10.1093/hmg/ddi380 }}
*{{cite journal | author=Chen M, Han G, Dietrich CR, ''et al.'' |title=The essential nature of sphingolipids in plants as revealed by the functional identification and characterization of the Arabidopsis LCB1 subunit of serine palmitoyltransferase. |journal=Plant Cell |volume=18 |issue= 12 |pages= 3576-93 |year= 2007 |pmid= 17194770 |doi= 10.1105/tpc.105.040774 }}
*{{cite journal   |vauthors=Chen M, Han G, Dietrich CR, etal |title=The essential nature of sphingolipids in plants as revealed by the functional identification and characterization of the Arabidopsis LCB1 subunit of serine palmitoyltransferase. |journal=Plant Cell |volume=18 |issue= 12 |pages= 3576–93 |year= 2007 |pmid= 17194770 |doi= 10.1105/tpc.105.040774 | pmc=1785403 }}
*{{cite journal  | author=Hornemann T, Wei Y, von Eckardstein A |title=Is the mammalian serine palmitoyltransferase a high-molecular-mass complex? |journal=Biochem. J. |volume=405 |issue= 1 |pages= 157-64 |year= 2007 |pmid= 17331073 |doi= 10.1042/BJ20070025 }}
*{{cite journal  | vauthors=Hornemann T, Wei Y, von Eckardstein A |title=Is the mammalian serine palmitoyltransferase a high-molecular-mass complex? |journal=Biochem. J. |volume=405 |issue= 1 |pages= 157–64 |year= 2007 |pmid= 17331073 |doi= 10.1042/BJ20070025 | pmc=1925250 }}
*{{cite journal | author=Ewing RM, Chu P, Elisma F, ''et al.'' |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 }}
*{{cite journal   |vauthors=Ewing RM, Chu P, Elisma F, etal |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 }}
}}
}}
{{refend}}
{{refend}}
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hsn1  GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy Type I]
{{Acyltransferases}}
{{Glycolipid/sphingolipid metabolism enzymes}}
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Latest revision as of 06:57, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein which in humans is encoded by the SPTLC1 gene.[1][2]

Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified.[1]

References

  1. ↑ 1.0 1.1 "Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1".
  2. ↑ Weiss B, Stoffel W (October 1997). "Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis". Eur. J. Biochem. 249 (1): 239–47. doi:10.1111/j.1432-1033.1997.00239.x. PMID 9363775.

Further reading

External links



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