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

    Gene ID: 171546, updated on 9-Dec-2024

    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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    Try the new Transcript table

    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: 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

    Clone Names

    • MGC24447

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 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
     
    contributes_to serine C-palmitoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables serine C-palmitoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    part_of serine palmitoyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of serine palmitoyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of serine palmitoyltransferase complex IPI
    Inferred from Physical Interaction
    more info
    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)