SPTSSA

Protein identityUniProt · HPA

UniProt accession

Q969W0

Gene

SPTSSA

Ensembl

ENSG00000165389

Chromosome

14

Canonical length

71 aa

Protein class

Predicted membrane proteins

OverviewNCBI Gene

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

Canonical amino-acid sequenceUniProt

71 residues, UniProt reviewed canonical sequence.

>Q969W0|SPTSSA
     1  MAGMALARAW KQMSWFYYQY LLVTALYMLE PWERTVFNSM LVSIVGMALY TGYVFMPQHI
    61  MAILHYFEIV Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPTSSA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.47

Highest tissue expression

67 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPTSSA.

Disease | AllUniProt

Conditions SPTSSA is implicated in, by any mechanism.

• Spastic paraplegia 90A, autosomal dominant (SPG90A) MIM:620416
• Spastic paraplegia 90B, autosomal recessive (SPG90B) MIM:620417

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 16 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spastic paraplegia 90B, autosomal recessive
• Spastic paraplegia 90A, autosomal dominant

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.89

gnomAD pLI

0.65

gnomAD missense Z

0.23

DepMap mean gene effect

-0.38

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ceramide biosynthetic process
• intracellular protein localization
• sphingolipid biosynthetic process
• sphingosine biosynthetic process

Molecular functions

• serine C-palmitoyltransferase activity

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum membrane
• serine palmitoyltransferase complex

Protein domainsUniProt · Pfam · InterPro

• Small subunit of serine palmitoyltransferase-like
• Small subunit of serine palmitoyltransferase-like
• Serine palmitoyltransferase small subunit

KeywordsUniProt

• Endoplasmic reticulum
• Hereditary spastic paraplegia
• Lipid metabolism
• Membrane
• Neurodegeneration
• Sphingolipid metabolism
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of SPTSSA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MBOAT7