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Sptlc1 Gene Detail
Summary
  • Symbol
    Sptlc1
  • Name
    serine palmitoyltransferase, long chain base subunit 1
  • Synonyms
    Lcb1, Spt1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1099431
    NCBI Gene: 268656
  • Gene Overview
    MyGene.info: SPTLC1
Location & Maps
more
  • Sequence Map
    Chr13:53332716-53377365 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      44650 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 27.68 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SPTLC1, serine palmitoyltransferase long chain base subunit 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SPTLC1, serine palmitoyltransferase long chain base subunit 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI
  • Links
    NCBI Gene ID: 10558
    neXtProt AC: NX_O15269

  • Chr Location
    9q22.2; chr9:92031134-92115474 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SPTLC1 associations

Human Disease Mouse Models
       Neuropathy, Hereditary Sensory and Autonomic, Type IA; HSAN1A   OMIM: 162400 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 2 alleles in 2 genetic backgrounds
    26 phenotypes from multigenic genotypes
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Targeted
    1
  • Transgenic
    2
  • Genomic Mutations
    1 involving Sptlc1
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for a knock-out allele exhibit abnormal sphingolipid levels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021468 Ensembl Gene Model | MGI Sequence Detail 44650 C57BL/6J ±  kb
transcript ENSMUST00000021920 Ensembl | MGI Sequence Detail 2606 Not Applicable  
polypeptide ENSMUSP00000021920 Ensembl | MGI Sequence Detail 473 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    505 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000015596 serine palmitoyltransferase 1
  • EC
  • InterPro Domains
    IPR004839 Aminotransferase, class I/classII
    IPR015424 Pyridoxal phosphate-dependent transferase
    IPR015421 Pyridoxal phosphate-dependent transferase, major region, subdomain 1
    IPR015422 Pyridoxal phosphate-dependent transferase, major region, subdomain 2
Molecular
Reagents
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  • All nucleic 20
    cDNA 17
    Primer pair 3

    Microarray probesets 4
Other
Accession IDs
less
MGI:2145452, MGI:2145493
References
more
  • Summaries
    All 43
    Developmental Gene Expression 5
    Diseases 2
    Gene Ontology 10
    Phenotypes 16
  • Earliest
    J:43725 Weiss B, et al., Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis. Eur J Biochem. 1997 Oct 1;249(1):239-47
  • Latest
    J:230265 Kim YK, et al., Tissue- and sex-specific effects of beta-carotene 15,15' oxygenase (BCO1) on retinoid and lipid metabolism in adult and developing mice. Arch Biochem Biophys. 2015 Apr 15;572:11-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory