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

Gene ID: 165679, updated on 1-Jun-2020

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
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

Genomic context

See SPTSSB in Genome Data Viewer
Location:
3q26.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (161344784..161373228, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (161062580..161090662, 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 uncharacterized LOC107986150 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

Homology

Clone Names

  • MGC104229

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 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum organization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of serine C-palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of serine C-palmitoyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sphingolipid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
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 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)

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_001040100.1NP_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)
    AF458592, AK123348, BU950276, BU950567
    Consensus CDS
    CCDS33887.1
    UniProtKB/Swiss-Prot
    Q8NFR3
    UniProtKB/TrEMBL
    Q6ZWB5
    Related
    ENSP00000352097.4, ENST00000359175.8
    Conserved Domains (1) summary
    pfam11779
    Location:756
    SPT_ssu-like; Small subunit of serine palmitoyltransferase-like
  2. NM_001320679.1NP_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, AF458592, AK123348, BC130565, CA487194, DR000043
    Consensus CDS
    CCDS33887.1
    UniProtKB/Swiss-Prot
    Q8NFR3
    UniProtKB/TrEMBL
    Q6ZWB5
    Related
    ENSP00000420115.1, ENST00000497137.1
    Conserved Domains (1) summary
    pfam11779
    Location:756
    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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    161344784..161373228 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005793.2XP_016861282.1  serine palmitoyltransferase small subunit B isoform X1

    Related
    ENSP00000483928.1, ENST00000617024.1
  2. XM_017005794.2XP_016861283.1  serine palmitoyltransferase small subunit B isoform X1

  3. XM_024453380.1XP_024309148.1  serine palmitoyltransferase small subunit B isoform X2

    Conserved Domains (1) summary
    pfam11779
    Location:756
    SPT_ssu-like; Small subunit of serine palmitoyltransferase-like
  4. XM_024453379.1XP_024309147.1  serine palmitoyltransferase small subunit B isoform X2

    Related
    ENSP00000480827.1, ENST00000620149.1
    Conserved Domains (1) summary
    pfam11779
    Location:756
    SPT_ssu-like; Small subunit of serine palmitoyltransferase-like

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.
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