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Siae Gene Detail
Summary
  • Symbol
    Siae
  • Name
    sialic acid acetylesterase
  • Synonyms
    clone 165, LSE, Ysg2
  • Feature Type
    protein coding gene
  • IDs
    MGI:104803
    NCBI Gene: 22619
Location & Maps
more
  • Sequence Map
    Chr9:37613847-37648318 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      34472 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SIAE, sialic acid acetylesterase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SIAE, sialic acid acetylesterase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AIS6, CSEC, CSE-C, LSE, YSG2
  • Links
    NCBI Gene ID: 54414
    neXtProt AC: NX_Q9HAT2

  • Chr Location
    11q24; chr11:124635789-124676303 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 8001
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SIAE
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human SIAE associations

Human Disease Mouse Models
       Autoimmune Disease, Susceptibility to, 6; AIS6   OMIM: 613551
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 1 allele in 1 genetic background
    3 phenotypes from multigenic genotypes
    1 images
    4 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Gene trapped
    1
  • Targeted
    4
  • Incidental Mutations
Mice homozygous for a null allele have spleen hypoplasia, decreased T and B cell numbers, decreased threshold for B cell activation, and increased circulating levels of most immunoglobulin types including auto-antibodies.
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 OTTMUSG00000027448 VEGA Gene Model | MGI Sequence Detail 34472 C57BL/6J ±  kb
transcript OTTMUST00000067917 VEGA | MGI Sequence Detail 3433 Not Applicable  
polypeptide OTTMUSP00000034250 VEGA | MGI Sequence Detail 541 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    275 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000014859 sialate O-acetylesterase
  • EC
  • InterPro Domains
    IPR005181 Acetylesterase, domain of unknown function DUF303
    IPR013830 SGNH hydrolase-type esterase domain
Molecular
Reagents
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  • All nucleic 21
    cDNA 20
    Primer pair 1

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-28096
References
more
  • Summaries
    All 30
    Developmental Gene Expression 4
    Gene Ontology 2
    Phenotypes 4
  • Earliest
    J:37624 Butor C, et al., Structural, immunological, and biosynthetic studies of a sialic acid-specific O-acetylesterase from rat liver. J Biol Chem. 1993 May 15;268(14):10207-13
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

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
01/26/2016
MGI 6.02
The Jackson Laboratory