From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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]
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]
References
^
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
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