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SPTSSA - serine palmitoyltransferase small subunit A Gene

Also Known as SSSPTA; C14orf147

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 171546

About SPTSSA

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:34,432,788-34,462,240 (from NCBI)

This gene has 1 transcript (splice variant), 160 orthologues and 1 paralogue. Ubiquitous expression in adrenal (RPKM 46.3), colon (RPKM 28.8) and 23 other tissues.

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 of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

SPTSSA Products (1)

mRNA	Protein	Name
NM_138288.4	NP_612145.2	serine palmitoyltransferase small subunit A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19416851	GOA
contributes to serine C-palmitoyltransferase activity	IDA IDA: Inferred from direct assay	19416851	GOA
enables serine C-palmitoyltransferase activity	IDA IDA: Inferred from direct assay	25691431	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within ceramide biosynthetic process	IDA IDA: Inferred from direct assay	25691431	GOA
involved in protein localization	IDA IDA: Inferred from direct assay	23510452	GOA
involved in sphingosine biosynthetic process	IDA IDA: Inferred from direct assay	19416851	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	23510452	GOA
part of serine palmitoyltransferase complex	IDA IDA: Inferred from direct assay	19416851	GOA
part of serine palmitoyltransferase complex	IPI IPI: Inferred from physical interaction	19416851	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPTSSA Protein Structure

SPT_ssu-like

0
71 a.a.

Protein Preferred Names	Protein Names
serine palmitoyltransferase small subunit A	small subunit of serine palmitoyltransferase A

SPTSSA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPTSSA	Q969W0	RHBDL1	Homo sapiens	O75783	Y2H Prey Pooling	32296183
Intra	SPTSSA	Q969W0	RHBDL1	Homo sapiens	O75783	Y2H Array	32296183
Intra	SPTSSA	Q969W0	GET1	Homo sapiens	O00258	Y2H Prey Pooling	32296183
Intra	SPTSSA	Q969W0	GET1	Homo sapiens	O00258	Y2H Array	32296183
Intra	SPTSSA	Q969W0	HERPUD2	Homo sapiens	Q9BSE4	Y2H Array	32296183
Intra	SPTSSA	Q969W0	HERPUD2	Homo sapiens	Q9BSE4	Y2H Prey Pooling	32296183
Intra	SPTSSA	Q969W0	HERPUD2	Homo sapiens	Q9BSE4	Validated Y2H	32296183
Intra	SPTSSA	Q969W0	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	SPTSSA	Q969W0	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Nephrotic Syndrome, Type 14	Sphingosine Phosphate Lyase Insufficiency Syndrome Nephrotic Syndrome 14 NPHS14 Splis Nephrotic Syndrome Type 14 Sgpl1 Deficiency Steroid-Resistant Nephrotic Syndrome Type 14 Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
Hereditary Sensory And Autonomic Neuropathy Type 1	Hereditary Sensory And Autonomic Neuropathy Type I Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome Hsan1e Hsan1 Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy Hsn1e Hsnie Hereditary Sensory Neuropathy Type Ie Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory And Autonomic Neuropathy Type 1e Hereditary Sensory Neuropathy With Hearing Loss And Dementia Dnmt1-Complex Disorder Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss Hsn Ie Hereditary Sensory Autonomic Neuropathy, Type 1 Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
Alveoli Adenoma	Alveolar Adenoma Adenoma Of Alveoli Adenoma Of The Alveoli
Endometrial Adenosquamous Carcinoma	Adenosquamous Carcinoma Of Endometrium Adenosquamous Carcinoma Of The Endometrium Endometrial Adenosquamous Cancer Endometrial Adenosquamous Cell Carcinoma
Bronchial Benign Neoplasm	Bronchus Neoplasm Neoplasm Of Bronchus Bronchial Neoplasms Bronchial Neoplasm
Hereditary Sensory Neuropathy	Hereditary Sensory And Autonomic Neuropathy Hereditary Sensory And Autonomic Neuropathies Familial Dysautonomia, Type Ii Hsan Sensory Neuropathy Hereditary Neuropathy, Sensory And Autonomic, Hereditary Neuropathy, Sensory, Hereditary Sensory Neuropathy, Hereditary Charcot-Marie-Tooth Disease Cmt - [Charcot-Marie-Tooth Disease]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13739	SPTSSA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SPTSSA	RGD	RGD:1565821
Bos taurus	SPTSSA	VGNC	VGNC:35259
Mus musculus	SPTSSA	MGD	MGI:1913399
Others	SPTSSA	NCBI