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, macular disease,[7] and juvenile amyotrophic lateral sclerosis.[8][9] Alternatively spliced variants encoding different isoforms have been identified.[5]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000090054 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000021468 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ab"Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1".
^Weiss B, Stoffel W (October 1997). "Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis". European Journal of Biochemistry. 249 (1): 239–247. doi:10.1111/j.1432-1033.1997.00239.x. PMID 9363775.
^Gantner ML, Eade K, Wallace M, Handzlik MK, Fallon R, Trombley J, et al. (October 2019). "Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy". The New England Journal of Medicine. 381 (15): 1422–1433. doi:10.1056/NEJMoa1815111. PMC7685488. PMID 31509666.
^Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, etak (October 2021). "Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis". JAMA Neurology. 78 (10): 1236–1248. doi:10.1001/jamaneurol.2021.2598. PMC8406220. PMID 34459874.
Weiss B, Stoffel W (October 1997). "Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis". European Journal of Biochemistry. 249 (1): 239–247. doi:10.1111/j.1432-1033.1997.00239.x. PMID 9363775.
Gable K, Slife H, Bacikova D, Monaghan E, Dunn TM (March 2000). "Tsc3p is an 80-amino acid protein associated with serine palmitoyltransferase and required for optimal enzyme activity". The Journal of Biological Chemistry. 275 (11): 7597–7603. doi:10.1074/jbc.275.11.7597. PMID 10713067.
Hanada K, Hara T, Nishijima M (March 2000). "Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques". The Journal of Biological Chemistry. 275 (12): 8409–8415. doi:10.1074/jbc.275.12.8409. PMID 10722674.
Perry DK, Carton J, Shah AK, Meredith F, Uhlinger DJ, Hannun YA (March 2000). "Serine palmitoyltransferase regulates de novo ceramide generation during etoposide-induced apoptosis". The Journal of Biological Chemistry. 275 (12): 9078–9084. doi:10.1074/jbc.275.12.9078. PMID 10722759.
Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, et al. (March 2001). "SPTLC1 is mutated in hereditary sensory neuropathy, type 1". Nature Genetics. 27 (3): 261–262. doi:10.1038/85817. PMID 11242106. S2CID 34442339.
Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA (March 2001). "Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I". Nature Genetics. 27 (3): 309–312. doi:10.1038/85879. PMID 11242114. S2CID 25336349.
Nicholson GA, Dawkins JL, Blair IP, Auer-Grumbach M, Brahmbhatt SB, Hulme DJ (September 2001). "Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe". American Journal of Human Genetics. 69 (3): 655–659. doi:10.1086/323252. PMC1235494. PMID 11479835.
Stachowitz S, Alessandrini F, Abeck D, Ring J, Behrendt H (November 2002). "Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis". The Journal of Investigative Dermatology. 119 (5): 1048–1052. doi:10.1046/j.1523-1747.2002.19524.x. PMID 12445191.
Campbell AM, Hoffman HL (March 1964). "Sensory Radicular Neuropathy Associated with Muscle Wasting in Two Cases". Brain. 87: 67–74. doi:10.1093/brain/87.1.67. PMID 14152213.
Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, et al. (March 2004). "SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I". Neurology. 62 (6): 1001–1002. doi:10.1212/01.wnl.0000115388.10828.5c. PMID 15037712. S2CID 42500487.
Dedov VN, Dedova IV, Nicholson GA (October 2004). "Hypoxia causes aggregation of serine palmitoyltransferase followed by non-apoptotic death of human lymphocytes". Cell Cycle. 3 (10): 1271–1277. doi:10.4161/cc.3.10.1163. PMID 15467453.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
McCampbell A, Truong D, Broom DC, Allchorne A, Gable K, Cutler RG, et al. (November 2005). "Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy". Human Molecular Genetics. 14 (22): 3507–3521. doi:10.1093/hmg/ddi380. PMID 16210380.
Chen M, Han G, Dietrich CR, Dunn TM, Cahoon EB (December 2006). "The essential nature of sphingolipids in plants as revealed by the functional identification and characterization of the Arabidopsis LCB1 subunit of serine palmitoyltransferase". The Plant Cell. 18 (12): 3576–3593. doi:10.1105/tpc.105.040774. PMC1785403. PMID 17194770.
Hornemann T, Wei Y, von Eckardstein A (July 2007). "Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?". The Biochemical Journal. 405 (1): 157–164. doi:10.1042/BJ20070025. PMC1925250. PMID 17331073.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC1847948. PMID 17353931.
External linksedit
GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy Type I
This protein-related article is a stub. You can help Wikipedia by expanding it.
sptlc1, serine, palmitoyltransferase, long, chain, base, subunit, also, known, protein, which, humans, encoded, gene, identifiersaliases, hsan1, hsn1, lbc1, lcb1, spt1, spti, serine, palmitoyltransferase, long, chain, base, subunit, 1external, idsomim, 605712,. Serine palmitoyltransferase long chain base subunit 1 also known as SPTLC1 is a protein which in humans is encoded by the SPTLC1 gene 5 6 SPTLC1IdentifiersAliasesSPTLC1 HSAN1 HSN1 LBC1 LCB1 SPT1 SPTI serine palmitoyltransferase long chain base subunit 1External IDsOMIM 605712 MGI 1099431 HomoloGene 4681 GeneCards SPTLC1Gene location Human Chr Chromosome 9 human 1 Band9q22 31Start92 000 087 bp 1 End92 115 413 bp 1 Gene location Mouse Chr Chromosome 13 mouse 2 Band13 13 B1Start53 486 784 bp 2 End53 531 433 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inoral cavityAchilles tendongerminal epitheliumvulvacorpus epididymisplacentapalpebral conjunctivasecondary oocytebronchial epithelial celljejunal mucosaTop expressed insubmandibular glandretinal pigment epitheliumsacculeciliary bodyirisparotid glandsecondary oocyteseminal vesiculalipotic placodeMore reference expression dataBioGPSn aGene ontologyMolecular functionserine C palmitoyltransferase activity acyltransferase activity protein binding pyridoxal phosphate binding catalytic activity transferase activityCellular componentintegral component of membrane membrane SPOTS complex serine C palmitoyltransferase complex endoplasmic reticulum membrane endoplasmic reticulumBiological processsphingolipid metabolic process sphinganine biosynthetic process sphingosine biosynthetic process sphingomyelin biosynthetic process positive regulation of lipophagy lipid metabolism sphingolipid biosynthetic process biosynthesis ceramide biosynthetic process regulation of fat cell apoptotic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez10558268656EnsemblENSG00000090054ENSMUSG00000021468UniProtO15269O35704RefSeq mRNA NM 001281303NM 006415NM 178324NM 001368272NM 001368273NM 009269RefSeq protein NP 001268232NP 006406NP 847894NP 001355201NP 001355202NP 033295Location UCSC Chr 9 92 92 12 MbChr 13 53 49 53 53 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseSerine 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 macular disease 7 and juvenile amyotrophic lateral sclerosis 8 9 Alternatively spliced variants encoding different isoforms have been identified 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000090054 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000021468 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene SPTLC1 serine palmitoyltransferase long chain base subunit 1 Weiss B Stoffel W October 1997 Human and murine serine palmitoyl CoA transferase cloning expression and characterization of the key enzyme in sphingolipid synthesis European Journal of Biochemistry 249 1 239 247 doi 10 1111 j 1432 1033 1997 00239 x PMID 9363775 Gantner ML Eade K Wallace M Handzlik MK Fallon R Trombley J et al October 2019 Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy The New England Journal of Medicine 381 15 1422 1433 doi 10 1056 NEJMoa1815111 PMC 7685488 PMID 31509666 Johnson JO Chia R Miller DE Li R Kumaran R Abramzon Y etak October 2021 Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis JAMA Neurology 78 10 1236 1248 doi 10 1001 jamaneurol 2021 2598 PMC 8406220 PMID 34459874 Mohassel P Donkervoort S Lone MA Nalls M Gable K Gupta SD et al July 2021 Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis Nature Medicine 27 7 1197 1204 doi 10 1038 s41591 021 01346 1 PMC 9309980 PMID 34059824 Further reading editWeiss B Stoffel W October 1997 Human and murine serine palmitoyl CoA transferase cloning expression and characterization of the key enzyme in sphingolipid synthesis European Journal of Biochemistry 249 1 239 247 doi 10 1111 j 1432 1033 1997 00239 x PMID 9363775 Gable K Slife H Bacikova D Monaghan E Dunn TM March 2000 Tsc3p is an 80 amino acid protein associated with serine palmitoyltransferase and required for optimal enzyme activity The Journal of Biological Chemistry 275 11 7597 7603 doi 10 1074 jbc 275 11 7597 PMID 10713067 Hanada K Hara T Nishijima M March 2000 Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques The Journal of Biological Chemistry 275 12 8409 8415 doi 10 1074 jbc 275 12 8409 PMID 10722674 Perry DK Carton J Shah AK Meredith F Uhlinger DJ Hannun YA March 2000 Serine palmitoyltransferase regulates de novo ceramide generation during etoposide induced apoptosis The Journal of Biological Chemistry 275 12 9078 9084 doi 10 1074 jbc 275 12 9078 PMID 10722759 Bejaoui K Wu C Scheffler MD Haan G Ashby P Wu L et al March 2001 SPTLC1 is mutated in hereditary sensory neuropathy type 1 Nature Genetics 27 3 261 262 doi 10 1038 85817 PMID 11242106 S2CID 34442339 Dawkins JL Hulme DJ Brahmbhatt SB Auer Grumbach M Nicholson GA March 2001 Mutations in SPTLC1 encoding serine palmitoyltransferase long chain base subunit 1 cause hereditary sensory neuropathy type I Nature Genetics 27 3 309 312 doi 10 1038 85879 PMID 11242114 S2CID 25336349 Nicholson GA Dawkins JL Blair IP Auer Grumbach M Brahmbhatt SB Hulme DJ September 2001 Hereditary sensory neuropathy type I haplotype analysis shows founders in southern England and Europe American Journal of Human Genetics 69 3 655 659 doi 10 1086 323252 PMC 1235494 PMID 11479835 Stachowitz S Alessandrini F Abeck D Ring J Behrendt H November 2002 Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis The Journal of Investigative Dermatology 119 5 1048 1052 doi 10 1046 j 1523 1747 2002 19524 x PMID 12445191 Campbell AM Hoffman HL March 1964 Sensory Radicular Neuropathy Associated with Muscle Wasting in Two Cases Brain 87 67 74 doi 10 1093 brain 87 1 67 PMID 14152213 Verhoeven K Coen K De Vriendt E Jacobs A Van Gerwen V Smouts I et al March 2004 SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I Neurology 62 6 1001 1002 doi 10 1212 01 wnl 0000115388 10828 5c PMID 15037712 S2CID 42500487 Dedov VN Dedova IV Nicholson GA October 2004 Hypoxia causes aggregation of serine palmitoyltransferase followed by non apoptotic death of human lymphocytes Cell Cycle 3 10 1271 1277 doi 10 4161 cc 3 10 1163 PMID 15467453 Rual JF Venkatesan K Hao T Hirozane Kishikawa T Dricot A Li N et al October 2005 Towards a proteome scale map of the human protein protein interaction network Nature 437 7062 1173 1178 Bibcode 2005Natur 437 1173R doi 10 1038 nature04209 PMID 16189514 S2CID 4427026 McCampbell A Truong D Broom DC Allchorne A Gable K Cutler RG et al November 2005 Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age dependent neuropathy Human Molecular Genetics 14 22 3507 3521 doi 10 1093 hmg ddi380 PMID 16210380 Chen M Han G Dietrich CR Dunn TM Cahoon EB December 2006 The essential nature of sphingolipids in plants as revealed by the functional identification and characterization of the Arabidopsis LCB1 subunit of serine palmitoyltransferase The Plant Cell 18 12 3576 3593 doi 10 1105 tpc 105 040774 PMC 1785403 PMID 17194770 Hornemann T Wei Y von Eckardstein A July 2007 Is the mammalian serine palmitoyltransferase a high molecular mass complex The Biochemical Journal 405 1 157 164 doi 10 1042 BJ20070025 PMC 1925250 PMID 17331073 Ewing RM Chu P Elisma F Li H Taylor P Climie S et al 2007 Large scale mapping of human protein protein interactions by mass spectrometry Molecular Systems Biology 3 1 89 doi 10 1038 msb4100134 PMC 1847948 PMID 17353931 External links editGeneReviews NIH NCBI UW entry on Hereditary Sensory Neuropathy Type I nbsp This protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SPTLC1 amp oldid 1142715501, wikipedia, wiki, book, books, library,
