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SPTSSA serine palmitoyltransferase small subunit A [ Homo sapiens (human) ]

Gene ID: 171546, updated on 7-Jun-2020

Summary

Official Symbol
SPTSSAprovided by HGNC
Official Full Name
serine palmitoyltransferase small subunit Aprovided by HGNC
Primary source
HGNC:HGNC:20361
See related
Ensembl:ENSG00000165389 MIM:613540
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SSSPTA; C14orf147
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]
Expression
Ubiquitous expression in adrenal (RPKM 46.3), colon (RPKM 28.8) and 23 other tissues See more
Orthologs

Genomic context

See SPTSSA in Genome Data Viewer
Location:
14q13.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (34432788..34462240, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (34902144..34931468, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724945 Neighboring gene uncharacterized LOC105370444 Neighboring gene sulfotransferase family 1C member 2 pseudogene Neighboring gene ribosomal protein L23a pseudogene 71 Neighboring gene E2F associated phosphoprotein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC24447

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to serine C-palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine C-palmitoyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to serine C-palmitoyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
protein localization IDA
Inferred from Direct Assay
more info
PubMed 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
serine C-palmitoyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine C-palmitoyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_138288.4NP_612145.2  serine palmitoyltransferase small subunit A

    See identical proteins and their annotated locations for NP_612145.2

    Status: VALIDATED

    Source sequence(s)
    AI765163, AL356806, BC068480
    Consensus CDS
    CCDS9647.2
    UniProtKB/Swiss-Prot
    Q969W0
    Related
    ENSP00000298130.4, ENST00000298130.5
    Conserved Domains (1) summary
    pfam11779
    Location:1059
    SPT_ssu-like; Small subunit of serine palmitoyltransferase-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    34432788..34462240 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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