Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	171546
Gene name	Serine palmitoyltransferase small subunit A
Gene symbol	SPTSSA
Synonyms (NCBI Gene)	C14orf147SPG90ASPG90BSSSPTA
Chromosome	14
Chromosome location	14q13.1
Summary	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 o

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024140	hsa-miR-221-3p	Sequencing	20371350
MIRT039222	hsa-miR-454-3p	CLASH	23622248
MIRT718976	hsa-miR-3129-3p	HITS-CLIP	19536157
MIRT718975	hsa-miR-5583-5p	HITS-CLIP	19536157
MIRT138007	hsa-miR-580-5p	HITS-CLIP	19536157
MIRT718974	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT718973	hsa-miR-513c-5p	HITS-CLIP	19536157
MIRT718972	hsa-miR-514b-5p	HITS-CLIP	19536157
MIRT718971	hsa-miR-510-3p	HITS-CLIP	19536157
MIRT500971	hsa-miR-196b-5p	PAR-CLIP	24398324
MIRT500972	hsa-miR-196a-5p	PAR-CLIP	24398324
MIRT500970	hsa-miR-499a-3p	PAR-CLIP	24398324
MIRT500969	hsa-miR-499b-3p	PAR-CLIP	24398324
MIRT500968	hsa-miR-3927-3p	PAR-CLIP	24398324
MIRT500967	hsa-miR-6831-5p	PAR-CLIP	24398324
MIRT500966	hsa-miR-3613-3p	PAR-CLIP	24398324
MIRT500965	hsa-miR-1250-3p	PAR-CLIP	24398324
MIRT500964	hsa-miR-153-5p	PAR-CLIP	24398324
MIRT500963	hsa-miR-331-5p	PAR-CLIP	24398324
MIRT500962	hsa-miR-6509-5p	PAR-CLIP	24398324
MIRT728148	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT728147	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT718976	hsa-miR-3129-3p	HITS-CLIP	19536157
MIRT718975	hsa-miR-5583-5p	HITS-CLIP	19536157
MIRT138007	hsa-miR-580-5p	HITS-CLIP	19536157
MIRT718974	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT718973	hsa-miR-513c-5p	HITS-CLIP	19536157
MIRT718972	hsa-miR-514b-5p	HITS-CLIP	19536157
MIRT718971	hsa-miR-510-3p	HITS-CLIP	19536157
MIRT500971	hsa-miR-196b-5p	PAR-CLIP	24398324
MIRT500972	hsa-miR-196a-5p	PAR-CLIP	24398324
MIRT500970	hsa-miR-499a-3p	PAR-CLIP	24398324
MIRT500969	hsa-miR-499b-3p	PAR-CLIP	24398324
MIRT500968	hsa-miR-3927-3p	PAR-CLIP	24398324
MIRT500967	hsa-miR-6831-5p	PAR-CLIP	24398324
MIRT500966	hsa-miR-3613-3p	PAR-CLIP	24398324
MIRT500965	hsa-miR-1250-3p	PAR-CLIP	24398324
MIRT500964	hsa-miR-153-5p	PAR-CLIP	24398324
MIRT500963	hsa-miR-331-5p	PAR-CLIP	24398324
MIRT500962	hsa-miR-6509-5p	PAR-CLIP	24398324

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004758	Function	Serine C-palmitoyltransferase activity	IBA
GO:0004758	Function	Serine C-palmitoyltransferase activity	IDA	19416851
GO:0004758	Function	Serine C-palmitoyltransferase activity	IDA	25691431
GO:0005515	Function	Protein binding	IPI	19416851, 23510452, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	23510452
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	33558761
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0008104	Process	Intracellular protein localization	IDA	23510452
GO:0016020	Component	Membrane	IEA
GO:0017059	Component	Serine palmitoyltransferase complex	IBA
GO:0017059	Component	Serine palmitoyltransferase complex	IDA	19416851
GO:0017059	Component	Serine palmitoyltransferase complex	IPI	19416851, 33558761
GO:0030148	Process	Sphingolipid biosynthetic process	TAS	19416851
GO:0046512	Process	Sphingosine biosynthetic process	IDA	19416851, 33558761
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IDA	25691431

MIM	HGNC	e!Ensembl
613540	20361	ENSG00000165389

Q969W0

Protein name

Serine palmitoyltransferase small subunit A (Small subunit of serine palmitoyltransferase A) (ssSPTa)

Protein 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

PDB

6M4N , 6M4O , 7CQI , 7CQK , 7K0I , 7K0J , 7K0K , 7K0L , 7K0M , 7K0N , 7K0O , 7K0P , 7K0Q , 7YIU , 7YIY , 7YJ1 , 7YJ2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11779	SPT_ssu-like	10 → 63	Small subunit of serine palmitoyltransferase-like	Family

Sequence

MAGMALARAWKQMSWFYYQYLLVTALYMLEPWERTVFNSMLVSIVGMALYTGYVFMPQHI
MAILHYFEIVQ

Sequence length

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid signaling pathway		Sphingolipid de novo biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spastic paraplegia 90A, autosomal dominant	Pathogenic	rs2502075796	RCV003234737	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 90B, autosomal recessive	Pathogenic	rs774537505	RCV003234735	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Glioblastoma	Associate	36062185	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Stimulate	36062185	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	36062185	★★★★★ ★☆☆☆☆ Found in Text Mining only

SPTSSA (serine palmitoyltransferase small subunit A)