Sptssa serine palmitoyltransferase, small subunit A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sptssaprovided by MGI
Official Full Name: serine palmitoyltransferase, small subunit Aprovided by MGI
Primary source: MGI:MGI:1913399
See related: Ensembl:ENSMUSG00000044408 AllianceGenome:MGI:1913399
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ssspta; 1110002B05Rik
Summary: Predicted to contribute to serine C-palmitoyltransferase activity. Predicted to be involved in ceramide biosynthetic process; protein localization; and sphingosine biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be part of serine palmitoyltransferase complex. Is expressed in several structures, including aorta; brain; retina; spleen; and submandibular gland. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 90A and hereditary spastic paraplegia 90B. Orthologous to human SPTSSA (serine palmitoyltransferase small subunit A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in duodenum adult (RPKM 80.7), adrenal adult (RPKM 58.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C1; 12 23.46 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (54692159..54703357, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (54645374..54656572, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SSSPTA is essential for serine palmitoyltransferase function during development and hematopoiesis.
Title: SSSPTA is essential for serine palmitoyltransferase function during development and hematopoiesis.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125858 (e-PCR)
- UniSTS:162595

D17995 (e-PCR)
- UniSTS:124759

D12Mit285 (e-PCR), detects polymorphism
- UniSTS:126844

RH124648 (e-PCR)
- UniSTS:161470

RH125747 (e-PCR)
- UniSTS:162502

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to serine C-palmitoyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to serine C-palmitoyltransferase activity	ISO Inferred from Sequence Orthology more info
enables serine C-palmitoyltransferase activity	ISO Inferred from Sequence Orthology more info	PubMed
contributes_to serine C-palmitoyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in ceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ceramide biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in sphingosine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in sphingosine biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
part_of serine palmitoyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of serine palmitoyltransferase complex	ISO Inferred from Sequence Orthology more info
part_of serine palmitoyltransferase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: serine palmitoyltransferase small subunit A

Names: small subunit of serine palmitoyltransferase A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.