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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. Diseases associated with SPTSSA include Neuropathy, Hereditary Sensory And Autonomic, Type V. Among its related pathways are Metabolism and Sphingolipid metabolism. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F034374 1.2 FANTOM5 Ensembl ENCODE 19.8 +87.1 87144 1.5 MLX FOXA3 DPF2 FOSL1 ZFHX2 ATF3 FOS ZBTB33 ZNF652 SPTSSA LOC100421787 GC14M034245
GH14F034379 1 Ensembl ENCODE 16.9 +82.6 82578 1.4 TBP ZNF644 GATA3 ZNF366 TCF7L2 GATAD2A STAT1 NFIA CEBPB ZEB2 SPTSSA LOC100421787 GC14M034245
GH14F034367 1.5 FANTOM5 Ensembl ENCODE 10.7 +93.3 93339 3.0 PKNOX1 ATF1 MLX ARID4B GTF3C2 SLC30A9 FOS SP5 MIER2 KAT8 EAPP RPS19P3 SPTSSA LOC100421787 GC14M034245
GH14F034372 1.4 FANTOM5 Ensembl ENCODE 10.2 +89.3 89324 1.7 FOS JUNB MIER2 MAFF SMARCA4 PBX2 CEBPA ZBTB17 ZNF18 TFAP4 SPTSSA LOC100421787 GC14M034245
GH14F034436 1.1 Ensembl ENCODE 11.7 +25.2 25249 1.8 SOX13 ELF3 ZNF792 SAP130 CEBPG ZSCAN9 RAD21 ZNF644 GATA3 POLR2A SPTSSA PIR58118
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000416311 556 2801 PKNOX1 MLX ZFP64 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 SLC30A9

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

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

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.

Gene Ontology (GO) - Molecular Function for SPTSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004758 contributes_to serine C-palmitoyltransferase activity IDA 19416851
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

Clone Products

Flow Cytometry 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 IEA --
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

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

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

Clone Products

Flow Cytometry 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 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
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 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
chimpanzee
(Pan troglodytes)
Mammalia SPTSSA 34 35
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia SPTSSA 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPTSSA 34 35
  • 95.1 (n)
mouse
(Mus musculus)
Mammalia Sptssa 34 16 35
  • 91.08 (n)
oppossum
(Monodelphis domestica)
Mammalia SPTSSA 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptssa 34
  • 90.61 (n)
chicken
(Gallus gallus)
Aves SPTSSA 34 35
  • 87.75 (n)
lizard
(Anolis carolinensis)
Reptilia SPTSSA 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptssa 34
  • 80.6 (n)
Str.8281 34
zebrafish
(Danio rerio)
Actinopterygii sptssa 34 35
  • 73.53 (n)
wufb60h11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8612 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3848 35
  • 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 Sequence Context AA Info Type
rs10129553 -- 34,447,462(+) tatga(G/T)tgctc intron-variant
rs10129746 -- 34,447,677(+) ctaag(G/T)tcatg intron-variant
rs10129766 -- 34,447,751(+) acaca(C/T)gggtt intron-variant
rs10130622 -- 34,444,625(+) caggc(A/G)cctgt intron-variant
rs10130753 -- 34,444,513(+) ctttg(A/G)gaggc 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)

Relevant External Links 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

MalaCards: The human disease database

(1) MalaCards diseases for SPTSSA Gene - From: DISEASES

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory and autonomic, type v
  • insensitivity to pain, congenital
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SPTSSA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPTSSA
genes like me logo Genes that share disorders with SPTSSA: view

No data available for 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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. ORMDL/serine palmitoyltransferase stoichiometry determines effects of ORMDL3 expression on sphingolipid biosynthesis. (PMID: 25691431) Siow D. … Wattenberg B. (J. Lipid Res. 2015) 3 64
  5. 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 64

Products for SPTSSA Gene

Sources for SPTSSA Gene

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