SPTC1_HUMAN
Source:
BSc_CH
Marked as 'Integral membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
SPTLC1
, LCB1
Protein names and data:
SPTC1_HUMAN
, Serine palmitoyltransferase 1; 2.3.1.50
, Long chain base biosynthesis protein 1; LCB 1; Serine-palmitoyl-CoA transferase 1; SPT 1; SPT1
Lenght: 473 a.a.
Mass: 52744 Da
fasta formatted sequence
Function:
Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference.
Catalytic activity:
Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D- sphinganine + CO(2).
Pathway:
Lipid metabolism; sphingolipid metabolism.
Disease:
( OMIM:
162400
605712
)
Hereditary sensory and autonomic neuropathy 1A (HSAN1A) [MIM:162400]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity).
Tissue specificity:
Widely expressed. Not detected in small intestine.
Genetic variants
133 - 133
C -> W (in HSAN1A; inactive in the heterodimeric SPT complex; largely reduced activity with serine as substrate, but nearly no effect on serine affinity in the heterotrimeric SPT complex; in contrast to wild-type is able to use alanine as substrate leading to the formation of 1-deoxysphinganine (1- deoxySa); does not interfere with SPT complex formation). VAR_011392
133 - 133
C -> Y (in HSAN1A; reduced activity; does not interfere with SPT complex formation). VAR_011393
144 - 144
V -> D (in HSAN1A; reduced activity; does not interfere with SPT complex formation). VAR_011394
151 - 151
R -> L (in dbSNP:rs45461899). VAR_037889
45461899
239 - 239
R -> W (in a breast cancer sample; somatic mutation). VAR_036610
310 - 310
A -> G (found in a patient with HSAN1A; uncertain pathological significance). VAR_068476
331 - 331
S -> F (in HSAN1A; reduced activity). VAR_066245
352 - 352
A -> V (in HSAN1A; reduced activity). VAR_066246
387 - 387
G -> A (rare polymorphism; does not affect activity; does not interfere with SPT complex formation; dbSNP:rs119482084). VAR_037890
119482084
Database cross-references
UniProt:
O15269
Ensembl:
ENST00000262554
Ensembl:
ENST00000337841
MIM:
162400
MIM:
605712
neXtProt:
NX_O15269
Antibodypedia:
O15269
(may not find the protein thus also not any antibody)
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