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

    Gene ID: 171546, updated on 4-Jan-2025

    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; AllianceGenome:HGNC:20361
    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
    SPG90A; SPG90B; 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
    NEW
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    Genomic context

    See SPTSSA in Genome Data Viewer
    Location:
    14q13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (34432788..34462240, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (28631319..28661012, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (34901994..34931446, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724945 Neighboring gene uncharacterized LOC105370444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:34608249-34609068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:34609069-34609887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8252 Neighboring gene sulfotransferase family 1C member 2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 3929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:34927797-34928298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5662 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:34931309-34932259 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:34964993-34965682 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:34965742-34966941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5664 Neighboring gene ribosomal protein L23a pseudogene 71 Neighboring gene Sharpr-MPRA regulatory region 9667 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35008110-35009034 Neighboring gene E2F associated phosphoprotein

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Spastic paraplegia 90A, autosomal dominant
    MedGen: C5830574 OMIM: 620416 GeneReviews: Not available
    not available
    Spastic paraplegia 90B, autosomal recessive
    MedGen: C5830578 OMIM: 620417 GeneReviews: Not available
    not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC24447

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum membrane PubMed 
    located_in endoplasmic reticulum membrane  
    part_of serine palmitoyltransferase complex  
    part_of serine palmitoyltransferase complex PubMed 
    part_of serine palmitoyltransferase complex PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B2RD54, D3DS93, Q8WTZ7, Q969W0
      Related
      ENSP00000298130.4, ENST00000298130.5
      Conserved Domains (1) summary
      pfam11779
      Location:1063
      SPT_ssu-like; Small subunit of serine palmitoyltransferase-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      28631319..28661012 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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