SPTLC1 Gene
protein-coding GIFtS: 63
GCID: GC09M094793
|
|
serine palmitoyltransferase, long chain base subunit 1(Previous names: hereditary sensory neuropathy, type 1 )
(Previous symbol: HSN1)
| |
Aliases
for SPTLC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Serine Palmitoyltransferase, Long Chain Base Subunit 11 2 | | LCB 12 3 | | LCB11 2 3 | | SPT 12 3 | | HSN11 2 5 | | EC 2.3.1.503 8 | | SPT12 3 5 | | HSAN2 5 | | HSAN11 2 | | LBC12 5 | | SPTI1 2 | | Hereditary Sensory Neuropathy, Type 11 | | HLCB11 | | Serine C-Palmitoyltransferase2 | | Long Chain Base Biosynthesis Protein 12 3 | | Serine Palmitoyltransferase 12 | | Serine-Palmitoyl-CoA Transferase 12 3 | | |
Export aliases for SPTLC1 gene to outside databasesPrevious GC identifers: GC09M085621 GC09M086522 GC09M088092 GC09M090134 GC09M091873 GC09M093833 GC09M064471 |
Summaries
for SPTLC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SPTLC1:
Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis.It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product ofthis gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified inpatients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms havebeen identified. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269Function: Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalyticcore. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. TheSPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozymeuses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complexshows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use abroader range of acyl-CoAs, without apparent preference
Gene Wiki entry for SPTLC1
|
Genomic Views
for SPTLC1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_008470.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SPTLC1 gene promoter:
Max1 AML1a HSF1 (long) E47 MEF-2A COMP1 HSF1short aMEF-2 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for SPTLC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTLC1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q22.2 Ensembl cytogenetic band: 9q22.31 HGNC cytogenetic band: 9q22.31SPTLC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M094793: view genomic region
(about GC identifiers)
Start:
|
94,793,427 bp from pter |
End:
|
94,877,690 bp from pter |
Size:
|
84,264 bases |
Orientation:
|
minus strand |
|
Proteins
for SPTLC1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269 (See
protein sequence)Recommended Name: Serine palmitoyltransferase 1 Size: 473 amino acids; 52744 Da
Cofactor: Pyridoxal phosphate (By similarity)
Subunit: Heterodimer with SPTLC2 or SPTLC3. Component of the serine palmitoyltransferase (SPT) complex, composed ofSPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB. Interacts with SPTSSA and SPTSSB; the interaction isdirect. Interacts with ORMDL3
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity)
Caution: Variant Ala-387 has been originally thought to cause HSAN1A (PubMed:15037712). Subsequently, it has been shownto be a rare, benign polymorphism found in homozygous state in a healthy individual (PubMed:19132419)
Secondary accessions: A8K681 Q5VWB4 Q96IX6Alternative splicing: 2 isoforms: O15269-1 O15269-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for SPTLC1: NX_O15269
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O15269
4/13 DME Specific Peptides for SPTLC1 (O15269) (see all 13)
SPTLC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_006406.1 NP_847894.1
ENSEMBL proteins: ENSP00000262554 ENSP00000337635 Reactome Protein details: O15269
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
SPTLC1 for ontologies About GeneDecksing
SPTLC1 Antibody Products:
Assay Products for SPTLC1: |
Protein
Domains /
Families
for SPTLC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SPTLC1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O15269ProtoNet protein and cluster: O15269 2 Blocks protein families: IPB001917 Aminotransferase IPB004839 Aminotransferase
UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269Similarity: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family |
Function
for SPTLC1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269Function: Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalyticcore. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. TheSPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozymeuses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complexshows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use abroader range of acyl-CoAs, without apparent preferenceCatalytic activity: Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO(2)Biophysicochemical properties: Kinetic parameters: KM=0.75 mM for serine; Vmax=1350 pmol/min/mg enzyme;Enzyme Number (IUBMB): EC 2.3.1.501 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTLC1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTLC1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SPTLC1 (NM_006415) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPTLC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
SPTLC1 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Sptlc1tm1Jia for SPTLC1
5 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Sptlc1):
SPTLC1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for SPTLC1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Sphingolipid metabolism | | | 2 | Metabolism | | | 3 | ceramide biosynthesis | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for SPTLC1
4 
Reactome Pathways for SPTLC1
2 
Kegg Pathways (Kegg details for SPTLC1):
UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269Pathway: Lipid metabolism; sphingolipid metabolism
SPTLC1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPTLC1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/98 Interacting proteins for SPTLC1 (O152693 ENSP000002625544) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006644 | phospholipid metabolic process |
TAS | -- | | GO:0006665 | sphingolipid metabolic process |
TAS | -- | | GO:0006686 | sphingomyelin biosynthetic process |
IEA | -- | | GO:0030148 | sphingolipid biosynthetic process |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
SPTLC1 for ontologies About GeneDecksing
|
Drugs & Compounds
for SPTLC1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SPTLC1 for compounds About GeneDecksing
 Browse Tocris compounds for SPTLC1
8 HMDB Compounds for SPTLC1 About this table
2 DrugBank Compounds for SPTLC1 About this table
3 Novoseek chemical compound relationships for SPTLC1 gene About this table
Search CenterWatch for drugs/clinical trials and news about SPTLC1 / SPTC1
|
Transcripts
for SPTLC1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SPTLC1 gene (2 alternative transcripts): NM_006415.2 NM_178324.1 Unigene Cluster for SPTLC1: Serine palmitoyltransferase, long chain base subunit 1 Hs.90458 [show with all ESTs]Unigene Representative Sequence: AB2097578 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000486910 ENST00000262554(uc011ltv.1 uc004arl.1 uc004arm.1)
ENST00000469778 ENST00000482632 ENST00000337841(uc004arn.1) ENST00000477888
ENST00000488921 ENST00000461132
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTLC1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTLC1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): SPTLC1 (NM_006415) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPTLC1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC1 |
Additional cDNA sequence: AB209757.1 AF116613.1 AF147304.1 AK098344.1 AK291546.1 AK299153.1 AK309775.1 BC007085.1 BC068537.1 Y08685.1 22 DOTS entries: DT.444903 DT.92458220 DT.102820 DT.95312939 DT.100681874 DT.121208736 DT.91724848 DT.95225508 DT.95312943 DT.100743822 DT.121208704 DT.92458222 DT.97816127 DT.100813818 DT.121208779 DT.92023316 DT.99981543 DT.121208741 DT.91871110 DT.92004418 DT.92458221 DT.97801742 24/300 AceView cDNA sequences (see all 300): AA627479 CA748762 CD622626 BX397422 CB112484 AV652740 T39656 AA973574 AA864603 CB216099 T39740 AF147304 AW673758 AU138413 AU138619 AA627505 AL552640 AU141494 BM698067 BF110128 AI247291 BQ216500 CA431524 BI258416
GeneLoc Exon Structure
|
Expression
for SPTLC1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SPTLC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAAGGATGC
About this image
See SPTLC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPTLC1
SOURCE GeneReport for Unigene cluster: Hs.90458
UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269Tissue specificity: Widely expressed. Not detected in small intestine
SABiosciences Custom PCR Arrays for SPTLC1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPTLC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SPTLC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTLC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTLC1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC1 |
Orthologs
for SPTLC1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for SPTLC1 gene from 9/33 species (see all 33) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
SPTLC11 |
serine palmitoyltransferase, long chain base subunit more |
80.01(n)
87.79(a) |
|
426145 XM_423815.3 XP_423815.3 |
lizard
(Anolis carolinensis) |
Reptilia |
SPTLC16 |
-- |
87(a) |
1 ↔ 1 |
2(31523287-31553887) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.73642 |
Xenopus laevis transcribed sequence with moderate similarity more |
78.21(n) |
|
BU911419.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
CA474602.12 |
-- |
72.87(n) |
|
386944 CA474602.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Spt-I1 , 3 |
serine C-palmitoyltransferase3
Serine palmitoyltransferase subunit I1 |
52(a)3
53.51(n)1
51.22(a)1 |
|
49F43
364481 NM_136998.21 NP_610842.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
C23H3.43
sptl-11 |
aminotransferase3
Protein SPTL-11 |
49(a)3
55.81(n)1
50.9(a)1 |
|
II(51538-52611)3
1733891 NM_001026807.11 NP_001021978.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
LCB1(YMR296C)4
LCB11 |
Component of serine palmitoyltransferase, responsible more4
Lcb1p1 |
46.11(n)1
36.78(a)1 |
|
13(860891-859215)4
8553421, 4 NP_014025.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
LCB11 |
serine palmitoyltransferase |
52.49(n)
45.02(a) |
|
829800 NM_001036719.1 NP_001031796.1 |
rice
(Oryza sativa) |
Liliopsida |
Os02g08069001 |
hypothetical protein |
53.5(n)
47.63(a) |
|
4331075 NM_001054986.1 NP_001048451.2 |
ENSEMBL Gene Tree for SPTLC1 (if available)
TreeFam Gene Tree for SPTLC1 (if available) |
Paralogs
for SPTLC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SPTLC1 gene
SPTLC1 for paralogs About GeneDecksing
5/10 Pseudogenes.org Pseudogenes for SPTLC1 (see all 10)
PGOHUM00000238713 PGOHUM00000248637 PGOHUM00000249153 PGOHUM00000245003 PGOHUM00000240671
|
Genomic Variants
for SPTLC1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SPTLC1 (94793427 - 94877690 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SPTLC1: --
Human Gene Mutation Database (HGMD): SPTLC1
Locus Specific Mutation Databases (LSDB): SPTLC1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPTLC1 |
|
Disorders
/ Diseases
for SPTLC1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SPTLC1 for disorders About GeneDecksing
OMIM gene information: 605712
OMIM disorders: 162400
UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269
Defects in SPTLC1 are the cause of hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400].The hereditary sensory and autonomic neuropathies are a genetically and clinically heterogeneous group of disorderscharacterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomicabnormalities. HSAN1A is an autosomal dominant axonal neuropathy with onset in the second or third decades. Initialsymptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting andweakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations
20/24  diseases for SPTLC1 (see all 24): About MalaCardshereditary sensory neuropathy sensory neuropathy type 1 neuropathy charcot-marie-tooth disease
neuropathy hereditary sensory and autonomic type 1 tabes dorsalis lumbosacral lipoma aortic valve insufficiency
tooth disease axonal neuropathy autonomic neuropathy lipoma
hypohidrosis peripheral neuropathy alcoholic neuropathy neurodegeneration
alcoholism twinning cardiomyopathy cholesterol
3 diseases from the University of Copenhagen DISEASES database for SPTLC1:Peripheral neuropathy Tabes dorsalis Alcoholic neuropathy 5 Novoseek disease relationships for SPTLC1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| neuropathy, hereditary sensory, type i |
97.5 |
9 |
16364956 (3), 18018475 (2), 11242114 (1), 15037712 (1) (see all 5) |
| sensory neuropathy hereditary |
92.6 |
1 |
16311270 (1) |
| sensory neuropathy |
69.6 |
1 |
16364956 (1) |
| charcot-marie-tooth disease |
66.3 |
2 |
16364956 (1) |
| neurodegeneration |
34.7 |
2 |
15467453 (1) |
GeneTests: SPTLC1
Hereditary Sensory Neuropathy Type I
Human Genome Epidemiology (HuGE) Navigator: SPTLC1 (2 documents)
Export disorders for SPTLC1 gene to outside databases
|
Publications
for SPTLC1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SPTLC1 gene, integrated from 9 sources (see all 69):
(articles sorted by number of sources associating them with SPTLC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis. (PubMed id 9363775)1, 2, 3, 9 Weiss B. and Stoffel W. (1997)
- SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. (PubMed id 15037712)1, 2, 9 Verhoeven K.... De Jonghe P. (2004)
- Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. (PubMed id 11242114)1, 2, 9 Dawkins J.L....Nicholson G.A. (2001)
- Genes for hereditary sensory and autonomic neuropathi es: a genotype-phenotype correlation. (PubMed id 19651702)1, 2, 9 Rotthier A....Timmerman V. (2009)
- Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. (PubMed id 21618344)1, 2 Rotthier A.... Janssens K. (2011)
- Orm family proteins mediate sphingolipid homeostasis. (PubMed id 20182505)1, 2 Breslow D.K....Weissman J.S. (2010)
- A systematic comparison of all mutations in hereditar y sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not dis ease associated. (PubMed id 19132419)1, 2 Hornemann T....von Eckardstein A. (2009)
- Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. (PubMed id 19416851)1, 2 Han G.... Dunn T.M. (2009)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- SPTLC1 binds ABCA1 to negatively regulate trafficking and cholesterol efflux activity of the transporter. (PubMed id 18484747)1, 9 Tamehiro N....Fitzgerald M.L. (2008)
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External Searches for SPTLC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing SPTLC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SPTLC1 gene
(According to HUGE)
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Specialized Databases showing SPTLC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for SPTLC1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPTLC1 |
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| Patent Information for SPTLC1 gene:
Search GeneIP for patents involving SPTLC1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for SPTLC1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SPTLC1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPTLC1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPTLC1 | | | OriGene Protein Over-expression Lysate for SPTLC1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for SPTLC1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTLC1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTLC1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for SPTLC1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SPTLC1 | | OriGene Custom Protein Services for SPTLC1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPTLC1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPTLC1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTLC1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTLC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTLC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTLC1 |
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| | | | Search Tocris compounds for SPTLC1 |
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 | | | SPTLC1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC1 |
|  |  |  | | | | ThermoFisher Antibodies for SPTLC1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC1 |
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