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Aliases for SPTSSA Gene

Aliases for SPTSSA Gene

  • Serine Palmitoyltransferase Small Subunit A 2 3 5
  • Small Subunit Of Serine Palmitoyltransferase A 2 3 4
  • Serine Palmitoyltransferase, Small Subunit A 2 3
  • C14orf147 3 4
  • SSSPTA 3 4
  • Chromosome 14 Open Reading Frame 147 2

External Ids for SPTSSA Gene

Previous HGNC Symbols for SPTSSA Gene

  • C14orf147

Previous GeneCards Identifiers for SPTSSA Gene

  • GC14M034902

Summaries for SPTSSA Gene

Entrez Gene Summary for SPTSSA Gene

  • 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]

GeneCards Summary for SPTSSA Gene

SPTSSA (Serine Palmitoyltransferase Small Subunit A) is a Protein Coding gene. Among its related pathways are ceramide de novo biosynthesis. GO annotations related to this gene include serine C-palmitoyltransferase activity. An important paralog of this gene is SPTSSB.

UniProtKB/Swiss-Prot for SPTSSA Gene

  • Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTSSA Gene

Genomics for SPTSSA Gene

Regulatory Elements for SPTSSA Gene

Enhancers for SPTSSA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SPTSSA on UCSC Golden Path with GeneCards custom track

Promoters for SPTSSA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPTSSA on UCSC Golden Path with GeneCards custom track

Genomic Location for SPTSSA Gene

Chromosome:
14
Start:
34,432,789 bp from pter
End:
34,462,356 bp from pter
Size:
29,568 bases
Orientation:
Minus strand

Genomic View for SPTSSA Gene

Genes around SPTSSA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPTSSA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPTSSA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTSSA Gene

Proteins for SPTSSA Gene

  • Protein details for SPTSSA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969W0-SPTSA_HUMAN
    Recommended name:
    Serine palmitoyltransferase small subunit A
    Protein Accession:
    Q969W0
    Secondary Accessions:
    • B2RD54
    • D3DS93
    • Q8WTZ7

    Protein attributes for SPTSSA Gene

    Size:
    71 amino acids
    Molecular mass:
    8466 Da
    Quaternary structure:
    • Interacts with SPTLC1; the interaction is direct. Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB.
    SequenceCaution:
    • Sequence=AAH16805.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH16808.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH21701.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH68480.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG37801.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SPTSSA Gene

Proteomics data for SPTSSA Gene at MOPED

Post-translational modifications for SPTSSA Gene

No Post-translational modifications

Other Protein References for SPTSSA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPTSSA Gene

Domains & Families for SPTSSA Gene

Protein Domains for SPTSSA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPTSSA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969W0

UniProtKB/Swiss-Prot:

SPTSA_HUMAN :
  • Belongs to the SPTSS family. SPTSSA subfamily.
Family:
  • Belongs to the SPTSS family. SPTSSA subfamily.
genes like me logo Genes that share domains with SPTSSA: view

No data available for Gene Families for SPTSSA Gene

Function for SPTSSA Gene

Molecular function for SPTSSA Gene

UniProtKB/Swiss-Prot Function:
Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA.

Phenotypes for SPTSSA Gene

genes like me logo Genes that share phenotypes with SPTSSA: view

Animal Models for SPTSSA Gene

MGI Knock Outs for SPTSSA:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPTSSA Gene

Localization for SPTSSA Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPTSSA Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPTSSA Gene COMPARTMENTS Subcellular localization image for SPTSSA gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
cytosol 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SPTSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SPTSSA: view

Pathways & Interactions for SPTSSA Gene

SuperPathways for SPTSSA Gene

genes like me logo Genes that share pathways with SPTSSA: view

Pathways by source for SPTSSA Gene

1 BioSystems pathway for SPTSSA Gene

UniProtKB/Swiss-Prot Q969W0-SPTSA_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for SPTSSA Gene

None

No data available for SIGNOR curated interactions for SPTSSA Gene

Drugs & Compounds for SPTSSA Gene

No Compound Related Data Available

Transcripts for SPTSSA Gene

mRNA/cDNA for SPTSSA Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(299) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPTSSA Gene

Serine palmitoyltransferase, small subunit A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPTSSA Gene

No ASD Table

Relevant External Links for SPTSSA Gene

GeneLoc Exon Structure for
SPTSSA
ECgene alternative splicing isoforms for
SPTSSA

Expression for SPTSSA Gene

mRNA expression in normal human tissues for SPTSSA Gene

Protein differential expression in normal tissues from HIPED for SPTSSA Gene

This gene is overexpressed in Monocytes (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPTSSA Gene



SOURCE GeneReport for Unigene cluster for SPTSSA Gene Hs.740577

genes like me logo Genes that share expression patterns with SPTSSA: view

Protein tissue co-expression partners for SPTSSA Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SPTSSA Gene

Orthologs for SPTSSA Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPTSSA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPTSSA 35
  • 95.1 (n)
  • 100 (a)
SPTSSA 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sptssa 35
  • 91.08 (n)
  • 98.59 (a)
Sptssa 16
Sptssa 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPTSSA 35
  • 99.53 (n)
  • 100 (a)
SPTSSA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptssa 35
  • 90.61 (n)
  • 98.59 (a)
dog
(Canis familiaris)
Mammalia SPTSSA 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTSSA 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPTSSA 35
  • 87.75 (n)
  • 95.59 (a)
SPTSSA 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPTSSA 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptssa 35
  • 80.6 (n)
  • 88.06 (a)
Str.8281 35
zebrafish
(Danio rerio)
Actinopterygii sptssa 35
  • 73.53 (n)
  • 82.35 (a)
wufb60h11 35
sptssa 36
  • 82 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8612 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3848 36
  • 18 (a)
OneToMany
Species with no ortholog for SPTSSA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPTSSA Gene

ENSEMBL:
Gene Tree for SPTSSA (if available)
TreeFam:
Gene Tree for SPTSSA (if available)

Paralogs for SPTSSA Gene

Paralogs for SPTSSA Gene

(1) SIMAP similar genes for SPTSSA Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for SPTSSA Gene

genes like me logo Genes that share paralogs with SPTSSA: view

Variants for SPTSSA Gene

Sequence variations from dbSNP and Humsavar for SPTSSA Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs8497 -- 34,433,028(-) TTTTT(G/T)TTAAA utr-variant-3-prime
rs2787440 -- 34,463,082(-) CTGTC(A/T)TCTGC upstream-variant-2KB
rs2787441 -- 34,457,920(-) atctc(A/G/T)gttca intron-variant
rs2787442 -- 34,457,390(-) CCAAG(A/G)TGGGA intron-variant
rs2787443 -- 34,452,262(-) TCTTT(C/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPTSSA Gene

Variant ID Type Subtype PubMed ID
nsv528989 CNV Gain 19592680
nsv901600 CNV Gain 21882294

Variation tolerance for SPTSSA Gene

Residual Variation Intolerance Score: 56.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.33% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SPTSSA Gene

Disorders for SPTSSA Gene

Relevant External Links for SPTSSA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPTSSA

No disorders were found for SPTSSA Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPTSSA Gene

Publications for SPTSSA Gene

  1. Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. (PMID: 19416851) Han G. … Dunn T.M. (Proc. Natl. Acad. Sci. U.S.A. 2009) 2 3 4 67
  2. Identification of small subunit of serine palmitoyltransferase a as a lysophosphatidylinositol acyltransferase 1-interacting protein. (PMID: 23510452) Hirata Y. … Arai H. (Genes Cells 2013) 3
  3. Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation. (PMID: 21103663) Schaafhausen A. … MA1ller C.R. (Thromb. Haemost. 2011) 3
  4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for SPTSSA Gene

Sources for SPTSSA Gene

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