Misplaced Pages

SPTLC1
Identifiers
Aliases	SPTLC1, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, serine palmitoyltransferase long chain base subunit 1
External IDs	OMIM: 605712; MGI: 1099431; HomoloGene: 4681; GeneCards: SPTLC1; OMA:SPTLC1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9q22.31 Start 92,000,087 bp End 92,115,413 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13|13 B1 Start 53,486,784 bp End 53,531,433 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oral cavity skin of hip mucosa of sigmoid colon Achilles tendon skin of thigh germinal epithelium Epithelium of choroid plexus mucosa of pharynx vulva mucosa of paranasal sinus Top expressed in gastrula decidua submandibular gland retinal pigment epithelium transitional epithelium of urinary bladder saccule ciliary body iris parotid gland secondary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function serine C-palmitoyltransferase activity acyltransferase activity protein binding pyridoxal phosphate binding catalytic activity transferase activity Cellular component integral component of membrane membrane SPOTS complex serine C-palmitoyltransferase complex endoplasmic reticulum membrane endoplasmic reticulum Biological process sphingolipid 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 process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10558 268656 Ensembl ENSG00000090054 ENSMUSG00000021468 UniProt O15269 O35704 RefSeq (mRNA) NM_001281303 NM_006415 NM_178324 NM_001368272 NM_001368273 NM_009269 RefSeq (protein) NP_001268232 NP_006406 NP_847894 NP_001355201 NP_001355202 NP_033295 Location (UCSC) Chr 9: 92 – 92.12 Mb Chr 13: 53.49 – 53.53 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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

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, and juvenile amyotrophic lateral sclerosis. Alternatively spliced variants encoding different isoforms have been identified.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000090054 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000021468 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1".
6. 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.
7. 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.
8. 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.
9. 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

• 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. 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

• GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy Type I

This protein-related article is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 9
• Protein stubs