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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
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr13:53332748-53377397 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: HomoloGene, HGNC
  • Synonyms
    HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI
  • Links
    NCBI Gene ID: 10558
    neXtProt AC: NX_O15269
    UniProt: O15269

  • Chr Location
    9q22.31; chr9:92031134-92115474 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human SPTLC1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 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
    17 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      505 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 18
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2145452, MGI:2145493
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 10
      Phenotypes 17
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:240861 Alexaki A, et al., De Novo Sphingolipid Biosynthesis Is Required for Adipocyte Survival and Metabolic Homeostasis. J Biol Chem. 2017 Mar 03;292(9):3929-3939

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/16/2018
    MGI 6.12
    The Jackson Laboratory