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Aliases for SPTLC1 Gene

Aliases for SPTLC1 Gene

  • Serine Palmitoyltransferase Long Chain Base Subunit 1 2 3 5
  • Long Chain Base Biosynthesis Protein 1 3 4
  • Serine-Palmitoyl-CoA Transferase 1 3 4
  • EC 2.3.1.50 4 58
  • LCB 1 3 4
  • SPT 1 3 4
  • LCB1 3 4
  • SPT1 3 4
  • Hereditary Sensory Neuropathy, Type 1 2
  • Serine C-Palmitoyltransferase 3
  • Serine Palmitoyltransferase 1 3
  • HSAN1 3
  • LBC1 3
  • SPTI 3
  • HSN1 3

External Ids for SPTLC1 Gene

Previous HGNC Symbols for SPTLC1 Gene

  • HSN1

Previous GeneCards Identifiers for SPTLC1 Gene

  • GC09M085621
  • GC09M086522
  • GC09M088092
  • GC09M090134
  • GC09M091873
  • GC09M093833
  • GC09M094793
  • GC09M064471

Summaries for SPTLC1 Gene

Entrez Gene Summary for SPTLC1 Gene

  • This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]

GeneCards Summary for SPTLC1 Gene

SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1) is a Protein Coding gene. Diseases associated with SPTLC1 include Neuropathy, Hereditary Sensory And Autonomic, Type Ia and Neuropathy, Hereditary Sensory, Type Ie. Among its related pathways are Sphingolipid metabolism and Metabolism. GO annotations related to this gene include pyridoxal phosphate binding and serine C-palmitoyltransferase activity.

UniProtKB/Swiss-Prot for SPTLC1 Gene

  • Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. 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. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference.

Gene Wiki entry for SPTLC1 Gene

Additional gene information for SPTLC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTLC1 Gene

Genomics for SPTLC1 Gene

Regulatory Elements for SPTLC1 Gene

Enhancers for SPTLC1 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
GH09H092291 1.7 FANTOM5 ENCODE dbSUPER 14.3 -178.5 -178543 5 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 CENPP OGN SPTLC1 NOL8 IPPK IARS
GH09H092114 1.1 ENCODE 20.7 +0.1 121 1 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SPTLC1 NOL8 ROR2 FGD3 MTND4P15
GH09H092323 1.4 ENCODE dbSUPER 14.2 -210.0 -209958 2 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A MEF2D NOL8 CENPP MTND4P15 IARS LINC00475 ZNF484 ENSG00000236115 HSPE1P22 RPL21P82 RPL21P86
GH09H092145 1.6 Ensembl ENCODE dbSUPER 11.3 -31.9 -31917 3 HDGF ARNT YBX1 ZNF2 ZBTB7B ZNF766 ZNF207 FOS SP3 REST NOL8 MTND4P15 ENSG00000236115 HSPE1P22 RPL21P82 RPL21P86 SNX18P2 LOC101927993 SPTLC1 IARS
GH09H092614 1.2 ENCODE dbSUPER 10.6 -502.4 -502435 6 ELF3 FOXA2 MLX NFIB SIN3A RAD21 RARA YY1 FOS CREM CENPP NOL8 SPTLC1 PHF2 PIR43015 LOC100128361
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPTLC1 on UCSC Golden Path with GeneCards custom track

Promoters for SPTLC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000237853 174 1801 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for SPTLC1 Gene

Chromosome:
9
Start:
92,031,134 bp from pter
End:
92,115,474 bp from pter
Size:
84,341 bases
Orientation:
Minus strand

Genomic View for SPTLC1 Gene

Genes around SPTLC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPTLC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPTLC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTLC1 Gene

Proteins for SPTLC1 Gene

  • Protein details for SPTLC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15269-SPTC1_HUMAN
    Recommended name:
    Serine palmitoyltransferase 1
    Protein Accession:
    O15269
    Secondary Accessions:
    • A8K681
    • Q5VWB4
    • Q96IX6

    Protein attributes for SPTLC1 Gene

    Size:
    473 amino acids
    Molecular mass:
    52744 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Heterodimer with SPTLC2 or SPTLC3. Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB. Interacts with SPTSSA and SPTSSB; the interaction is direct. Interacts with ORMDL3.

    Alternative splice isoforms for SPTLC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPTLC1 Gene

Selected DME Specific Peptides for SPTLC1 Gene

O15269:
  • NPRVKAAA
  • FSKTYKLQERSDLT
  • DVHLDLE
  • DHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENP
  • HPALNYNIVSGPP
  • ASAIPAYSKRGDI
  • HLQLEESTGSRE
  • NFASFNFL
  • CGPRGFYGT
  • DLERLLKEQEIEDQKNPRKARVTRRFI
  • TEEAIIYSYGF
  • AACFAIQKGLQASRSDIK
  • CPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEH

Post-translational modifications for SPTLC1 Gene

  • Phosphorylation at Tyr-164 inhibits activity and promotes cell survival.
  • Ubiquitination at posLast=5757, posLast=197197, and Lys375
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for SPTLC1 Gene

Gene Families for SPTLC1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SPTLC1 Gene

Graphical View of Domain Structure for InterPro Entry

O15269

UniProtKB/Swiss-Prot:

SPTC1_HUMAN :
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with SPTLC1: view

Function for SPTLC1 Gene

Molecular function for SPTLC1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.75 mM for serine {ECO:0000269 PubMed:20504773}; Vmax=1350 pmol/min/mg enzyme {ECO:0000269 PubMed:20504773};
UniProtKB/Swiss-Prot CatalyticActivity:
Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO(2).
UniProtKB/Swiss-Prot Function:
Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. 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. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference.

Enzyme Numbers (IUBMB) for SPTLC1 Gene

Phenotypes From GWAS Catalog for SPTLC1 Gene

Gene Ontology (GO) - Molecular Function for SPTLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004758 serine C-palmitoyltransferase activity TAS --
GO:0005515 protein binding IPI 19416851
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with SPTLC1: view
genes like me logo Genes that share phenotypes with SPTLC1: view

Human Phenotype Ontology for SPTLC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPTLC1 Gene

MGI Knock Outs for SPTLC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SPTLC1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPTLC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for SPTLC1 Gene

Localization for SPTLC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPTLC1 Gene

Endoplasmic reticulum membrane; Single-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 SPTLC1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
plasma membrane 1
mitochondrion 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPTLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
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 SPTLC1: view

Pathways & Interactions for SPTLC1 Gene

genes like me logo Genes that share pathways with SPTLC1: view

Pathways by source for SPTLC1 Gene

UniProtKB/Swiss-Prot O15269-SPTC1_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

SIGNOR curated interactions for SPTLC1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SPTLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process TAS 9363775
GO:0006686 sphingomyelin biosynthetic process IEA --
GO:0009058 biosynthetic process IEA --
GO:0030148 sphingolipid biosynthetic process IDA,TAS 19416851
genes like me logo Genes that share ontologies with SPTLC1: view

Drugs & Compounds for SPTLC1 Gene

(10) Drugs for SPTLC1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Serine Approved Nutra Full agonist, Agonist, Target Weak endogenous glycine receptor agonist 0
Carbon dioxide Approved, Vet_approved Pharma 0
Vitamin E Approved, Vet_approved Nutra 428,431
Pyridoxal Phosphate Nutra Target, cofactor 16
Myriocin Pharma 0

(3) Additional Compounds for SPTLC1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
hexadecanoyl-CoA
Palmityl-CoA
  • Hexadecanoyl CoA
  • Hexadecanoyl Coenzyme A
  • Palmitoyl CoA
  • Palmitoyl coenzyme a
  • Palmitoyl-CoA
1763-10-6
genes like me logo Genes that share compounds with SPTLC1: view

Transcripts for SPTLC1 Gene

Unigene Clusters for SPTLC1 Gene

Serine palmitoyltransferase, long chain base subunit 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPTLC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SPTLC1 Gene

No ASD Table

Relevant External Links for SPTLC1 Gene

GeneLoc Exon Structure for
SPTLC1
ECgene alternative splicing isoforms for
SPTLC1

Expression for SPTLC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPTLC1 Gene

Protein differential expression in normal tissues from HIPED for SPTLC1 Gene

This gene is overexpressed in Bone (22.9) and Peripheral blood mononuclear cells (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPTLC1 Gene



Protein tissue co-expression partners for SPTLC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPTLC1 Gene:

SPTLC1

SOURCE GeneReport for Unigene cluster for SPTLC1 Gene:

Hs.90458

mRNA Expression by UniProt/SwissProt for SPTLC1 Gene:

O15269-SPTC1_HUMAN
Tissue specificity: Widely expressed. Not detected in small intestine.

Evidence on tissue expression from TISSUES for SPTLC1 Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Intestine(3.5)
  • Skin(2.2)
  • Spleen(2.2)
  • Heart(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPTLC1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with SPTLC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SPTLC1 Gene

Orthologs for SPTLC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPTLC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPTLC1 34 33
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SPTLC1 34 33
  • 91.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPTLC1 34 33
  • 91.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sptlc1 33 16 34
  • 84.57 (n)
rat
(Rattus norvegicus)
Mammalia Sptlc1 33
  • 84 (n)
oppossum
(Monodelphis domestica)
Mammalia SPTLC1 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPTLC1 33 34
  • 79.8 (n)
lizard
(Anolis carolinensis)
Reptilia SPTLC1 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptlc1 33
  • 76.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7364 33
zebrafish
(Danio rerio)
Actinopterygii sptlc1 34 33
  • 72.45 (n)
OneToOne
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9491 33
fruit fly
(Drosophila melanogaster)
Insecta Spt-I 35 33 34
  • 54.4 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010427 33
  • 53.52 (n)
worm
(Caenorhabditis elegans)
Secernentea sptl-1 33 34
  • 57.06 (n)
C23H3.4 35
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LCB1 33 34 36
  • 47.12 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09955g 33
  • 46.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR145C 33
  • 45.52 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons LCB1 33
  • 52.49 (n)
rice
(Oryza sativa)
Liliopsida Os02g0806900 33
  • 53.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC18E5.02c 33
  • 49.88 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06870 33
  • 46.73 (n)
Species where no ortholog for SPTLC1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPTLC1 Gene

ENSEMBL:
Gene Tree for SPTLC1 (if available)
TreeFam:
Gene Tree for SPTLC1 (if available)

Paralogs for SPTLC1 Gene

No data available for Paralogs for SPTLC1 Gene

Variants for SPTLC1 Gene

Sequence variations from dbSNP and Humsavar for SPTLC1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs119482081 Pathogenic, Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] 92,080,045(-) GACTT(A/G)TGGAC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs119482082 Pathogenic, Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] 92,080,044(-) ACTTG(G/T)GGACC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs119482083 Pathogenic, Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] 92,068,095(-) AGATG(A/T)TCATT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs267607087 Pathogenic, Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] 92,047,261(-) ACTTT(A/C/T)CGGCC nc-transcript-variant, reference, missense
rs267607088 Pathogenic, Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] 92,047,198(-) TGAGG(C/T)CCTCA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SPTLC1 Gene

Variant ID Type Subtype PubMed ID
nsv1046733 CNV gain 25217958
nsv1151320 CNV duplication 26484159
nsv831653 CNV gain 17160897
nsv950891 CNV duplication 24416366
nsv950892 CNV duplication 24416366
nsv972418 CNV duplication 23825009

Variation tolerance for SPTLC1 Gene

Residual Variation Intolerance Score: 20.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPTLC1 Gene

Human Gene Mutation Database (HGMD)
SPTLC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPTLC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTLC1 Gene

Disorders for SPTLC1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for SPTLC1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory and autonomic, type ia
  • hereditary sensory neuropathy type ia
neuropathy, hereditary sensory, type ie
  • dnmt1-related dementia, deafness, and sensory neuropathy
hereditary sensory and autonomic neuropathy type 1e
  • dnmt1-related dementia, deafness, and sensory neuropathy
sensory neuropathy type 1
neuropathy
  • peripheral neuropathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPTC1_HUMAN
  • Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. {ECO:0000269 PubMed:11242114, ECO:0000269 PubMed:19132419, ECO:0000269 PubMed:19651702, ECO:0000269 PubMed:20504773, ECO:0000269 PubMed:21618344, ECO:0000269 PubMed:22302274, ECO:0000269 PubMed:24247255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=SPTLC1 mutations at Ser-331 are responsible for severe hereditary motor and sensory neuropathy (HMSN) forms, whose core features are severe, diffuse muscle wasting and hypotonia, motor and sensory disturbances, foot ulcers, amputations and/or burns, joint hypermobility, cataracts and considerable growth retardation. {ECO:0000269 PubMed:23454272}.

Relevant External Links for SPTLC1

Genetic Association Database (GAD)
SPTLC1
Human Genome Epidemiology (HuGE) Navigator
SPTLC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPTLC1
genes like me logo Genes that share disorders with SPTLC1: view

No data available for Genatlas for SPTLC1 Gene

Publications for SPTLC1 Gene

  1. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. (PMID: 19651702) Rotthier A … Timmerman V (Brain : a journal of neurology 2009) 3 4 22 45 60
  2. Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis. (PMID: 9363775) Weiss B … Stoffel W (European journal of biochemistry 1997) 2 3 4 22 60
  3. SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. (PMID: 15037712) Verhoeven K … De Jonghe P (Neurology 2004) 3 4 22 60
  4. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. (PMID: 11242114) Dawkins JL … Nicholson GA (Nature genetics 2001) 3 4 22 60
  5. Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation. (PMID: 24247255) Suh BC … Choi BO (Molecular medicine reports 2014) 3 4 60

Products for SPTLC1 Gene

Sources for SPTLC1 Gene

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