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    SPTSSB serine palmitoyltransferase small subunit B [ Homo sapiens (human) ]

    Gene ID: 165679, updated on 10-Dec-2024

    Summary

    Official Symbol
    SPTSSBprovided by HGNC
    Official Full Name
    serine palmitoyltransferase small subunit Bprovided by HGNC
    Primary source
    HGNC:HGNC:24045
    See related
    Ensembl:ENSG00000196542 MIM:610412; AllianceGenome:HGNC:24045
    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
    ADMP; SSSPTB; C3orf57
    Summary
    Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB 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
    Biased expression in stomach (RPKM 17.1), skin (RPKM 13.9) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SPTSSB in Genome Data Viewer
    Location:
    3q26.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (161344798..161371517, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (164119563..164146294, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (161062586..161089305, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 4 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:161088778-161089332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:161089333-161089887 Neighboring gene uncharacterized LOC107986150 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:161138438-161139086 Neighboring gene long intergenic non-protein coding RNA 2067 Neighboring gene ribosomal protein L23a pseudogene 42

    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

    General gene information

    Markers

    Clone Names

    • MGC104229

    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 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endoplasmic reticulum organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within endoplasmic reticulum organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within sphingolipid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in sphingosine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    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 B
    Names
    androgen down regulated in mouse prostate
    likely ortholog of androgen down regulated gene expressed in mouse prostate
    small subunit of serine palmitoyltransferase B

    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_001040100.2NP_001035189.1  serine palmitoyltransferase small subunit B

      See identical proteins and their annotated locations for NP_001035189.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC112491
      Consensus CDS
      CCDS33887.1
      UniProtKB/Swiss-Prot
      B2R5D3, D3DNM8, Q0P5S6, Q8NFR3
      Related
      ENSP00000480827.1, ENST00000620149.2
      Conserved Domains (1) summary
      pfam11779
      Location:760
      SPT_ssu-like; Small subunit of serine palmitoyltransferase-like
    2. NM_001320679.2NP_001307608.1  serine palmitoyltransferase small subunit B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC112491
      Consensus CDS
      CCDS33887.1
      UniProtKB/Swiss-Prot
      B2R5D3, D3DNM8, Q0P5S6, Q8NFR3
      Related
      ENSP00000420115.1, ENST00000497137.1
      Conserved Domains (1) summary
      pfam11779
      Location:760
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      161344798..161371517 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453380.2XP_024309148.1  serine palmitoyltransferase small subunit B isoform X1

      UniProtKB/Swiss-Prot
      B2R5D3, D3DNM8, Q0P5S6, Q8NFR3
      Conserved Domains (1) summary
      pfam11779
      Location:760
      SPT_ssu-like; Small subunit of serine palmitoyltransferase-like
    2. XM_024453379.2XP_024309147.1  serine palmitoyltransferase small subunit B isoform X1

      UniProtKB/Swiss-Prot
      B2R5D3, D3DNM8, Q0P5S6, Q8NFR3
      Conserved Domains (1) summary
      pfam11779
      Location:760
      SPT_ssu-like; Small subunit of serine palmitoyltransferase-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      164119563..164146294 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345480.1XP_054201455.1  serine palmitoyltransferase small subunit B isoform X1

      UniProtKB/Swiss-Prot
      B2R5D3, D3DNM8, Q0P5S6, Q8NFR3
    2. XM_054345479.1XP_054201454.1  serine palmitoyltransferase small subunit B isoform X1

      UniProtKB/Swiss-Prot
      B2R5D3, D3DNM8, Q0P5S6, Q8NFR3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145035.2: Suppressed sequence

      Description
      NM_145035.2: This RefSeq was permanently suppressed because it contains the wrong CDS and is a nonsense-mediated mRNA decay (NMD) candidate.