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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
  • C14orf147 3 4
  • SSSPTA 3 4
  • Serine Palmitoyltransferase, Small Subunit A 2
  • 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 Metabolism and Sphingolipid metabolism. Gene Ontology (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.

Additional gene information for SPTSSA Gene

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

Genomics for SPTSSA Gene

GeneHancer (GH) Regulatory Elements for SPTSSA Gene

Promoters and enhancers for SPTSSA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I034460 Promoter/Enhancer 1.5 Ensembl ENCODE 550.8 +0.4 378 2.6 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A YBX1 FEZF1 DMAP1 EGLN3 SPTSSA PIR58118
GH14I034367 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.7 +93.3 93339 3 PKNOX1 FOXA2 ARNT ETS1 GTF3C2 ATF7 FOS REST KAT8 NFIL3 SPTSSA LOC100421787 EGLN3 GC14M034245
GH14I034374 Enhancer 0.7 FANTOM5 ENCODE 19.8 +87.1 87144 1.5 SMARCE1 ZFHX2 CTBP1 DPF2 FOS SPTSSA LOC100421787 EGLN3 GC14M034245
GH14I034379 Enhancer 0.7 ENCODE 16.9 +82.6 82578 1.4 ESRRA ZNF644 GATA3 ZNF366 POLR2A TCF7L2 GATAD2A STAT1 NFIA CEBPB SPTSSA LOC100421787 EGLN3 GC14M034245
GH14I034436 Enhancer 1 Ensembl ENCODE 11.8 +25.2 25227 1.8 ELF3 CLOCK FOXA2 RAD21 ZSCAN9 MIXL1 KLF11 NFYC MXD4 ZNF217 SPTSSA PIR58118 EGLN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPTSSA on UCSC Golden Path with GeneCards custom track

Genomic Locations for SPTSSA Gene

Genomic Locations for SPTSSA Gene
chr14:34,432,789-34,462,356
(GRCh38/hg38)
Size:
29,568 bases
Orientation:
Minus strand
chr14:34,901,995-34,931,562
(GRCh37/hg19)

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

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

Gene Families for SPTSSA Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SPTSSA Gene

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

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 From GWAS Catalog for SPTSSA Gene

Gene Ontology (GO) - Molecular Function for SPTSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004758 serine C-palmitoyltransferase activity TAS --
GO:0005515 protein binding IPI 19416851
genes like me logo Genes that share ontologies with SPTSSA: view

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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPTSSA gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
mitochondrion 2
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SPTSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0017059 serine C-palmitoyltransferase complex IDA 19416851
genes like me logo Genes that share ontologies with SPTSSA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPTSSA Gene

Pathways & Interactions for SPTSSA Gene

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

Pathways by source for SPTSSA Gene

UniProtKB/Swiss-Prot Q969W0-SPTSA_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for SPTSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0030148 sphingolipid biosynthetic process TAS 19416851
GO:0046513 ceramide biosynthetic process IDA 25691431
genes like me logo Genes that share ontologies with SPTSSA: view

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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SPTSSA Gene

NURSA nuclear receptor signaling pathways regulating expression of SPTSSA Gene:

SPTSSA

SOURCE GeneReport for Unigene cluster for SPTSSA Gene:

Hs.740577

Evidence on tissue expression from TISSUES for SPTSSA Gene

  • Kidney(4.2)
  • Nervous system(4.2)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with SPTSSA: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SPTSSA 33 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia SPTSSA 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPTSSA 33 34
  • 95.1 (n)
mouse
(Mus musculus)
Mammalia Sptssa 33 16 34
  • 91.08 (n)
oppossum
(Monodelphis domestica)
Mammalia SPTSSA 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptssa 33
  • 90.61 (n)
chicken
(Gallus gallus)
Aves SPTSSA 33 34
  • 87.75 (n)
lizard
(Anolis carolinensis)
Reptilia SPTSSA 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptssa 33
  • 80.6 (n)
Str.8281 33
zebrafish
(Danio rerio)
Actinopterygii sptssa 33 34
  • 73.53 (n)
wufb60h11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8612 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3848 34
  • 18 (a)
OneToMany
Species where no ortholog for SPTSSA was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000010823 -- 34,443,018(-) T/G intron_variant
rs1000085645 -- 34,463,211(-) G/A upstream_transcript_variant
rs1000164149 -- 34,441,007(-) T/C intron_variant
rs1000589732 -- 34,452,031(-) CCC/CCCC intron_variant
rs1000798163 -- 34,446,698(-) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv528989 CNV gain 19592680
nsv1050218 CNV gain 25217958
nsv1048369 CNV gain 25217958
dgv3608n54 CNV gain 21841781

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)

Additional Variant Information for SPTSSA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPTSSA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTSSA Gene

Disorders for SPTSSA Gene

Additional Disease Information for 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 TM (Proceedings of the National Academy of Sciences of the United States of America 2009) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. ORMDL/serine palmitoyltransferase stoichiometry determines effects of ORMDL3 expression on sphingolipid biosynthesis. (PMID: 25691431) Siow D … Wattenberg B (Journal of lipid research 2015) 3 58
  5. Gene essentiality and synthetic lethality in haploid human cells. (PMID: 26472760) Blomen VA … Brummelkamp TR (Science (New York, N.Y.) 2015) 3 58

Products for SPTSSA Gene

Sources for SPTSSA Gene

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