SPTSSA
entrez
171546
canonical
uniprot
Q969W0
canonical
ensembl
ENSG00000165389
resolver
ensp
ENSP00000298130
resolver
enst
ENST00000298130
resolver
genesymbol
SPTSSA
resolver
genesymbol_syn
C14orf147
resolver
genesymbol_syn
SSSPTA
resolver
hgnc
HGNC:20361
resolver
uniprot
B2RD54
resolver
uniprot
D3DS93
resolver
uniprot
Q8WTZ7
resolver
uniprot_entry
SPTSA_HUMAN
resolver
uniprot_sec
B2RD54
resolver
uniprot_sec
D3DS93
resolver
uniprot_sec
Q8WTZ7
resolver
amino_acid_sequence
MAGMALARAWKQMSWFYYQYLLVTALYMLEPWERTVFNSMLVSIVGMALYTGYVFMPQHIMAILHYFEIVQ
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 90A, autosomal dominant (SPG90A) [MIM:620416]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or weakness and stiffness may spread to other parts of the body. SPG90A affected individuals have motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss. {ECO:0000269|PubMed:36718090}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 90B, autosomal recessive (SPG90B) [MIM:620417]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or weakness and stiffness may spread to other parts of the body. SPG90B is an autosomal recessive form characterized by motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss. {ECO:0000269|PubMed:36718090}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases (PubMed:19416851). The SPT complex is composed of SPTLC1, SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer consisting of SPTLC1 and SPTLC2/SPTLC3 forms the catalytic core (PubMed:19416851). Within the SPT complex, SPTSSA stimulates the catalytic activity and plays a role in substrate specificity, which depends upon the overall complex composition (PubMed:19416851, PubMed:33558761). 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 (PubMed:19416851). Independently of its action as a SPT component, may be involved in MBOAT7 localization to mitochondria-associated membranes, a membrane bridge between the endoplasmic reticulum and mitochondria, may hence affect MBOAT7-catalyzed incorporation of arachidonic acid into phosphatidylinositol (PubMed:23510452). {ECO:0000269|PubMed:19416851, ECO:0000269|PubMed:23510452, ECO:0000269|PubMed:33558761}.
uniprot
proteins
mass_dalton
8466
uniprot
proteins
mutagenesis
MUTAGEN 28; /note="M->K: Within the serine palmitoyltransferase (SPT) complex, leads to a strong decrease in SPT catalytic activity with L-serine and palmitoyl-CoA as substrates."; /evidence="ECO:0000269|PubMed:33558762"; MUTAGEN 59; /note="H->L: Impaired down-regulation of SPT complex activity by ORMDL3."; /evidence="ECO:0000269|PubMed:36718090
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; sphingolipid metabolism.
uniprot
proteins
protein_family
SPTSS family
uniprot
proteins
protein_family
SPTSSA subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19416851
uniprot
proteins
pubmed
23510452
uniprot
proteins
pubmed
33558761
uniprot
proteins
pubmed
33558762
uniprot
proteins
pubmed
36718090
uniprot
proteins
pubmed
37308477
uniprot
proteins
sequence_length
71
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23510452}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 13..29; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 35..57; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins