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Neu1 Gene Detail
Summary
  • Symbol
    Neu1
  • Name
    neuraminidase 1
  • Synonyms
    Aglp, Apl, Bat7, Bat-7, G9, lysosomal sialidase, Map-2, Neu-1, sialidase 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97305
    NCBI Gene: 18010
  • Gene Overview
    MyGene.info: NEU1
Location & Maps
more
  • Sequence Map
    Chr17:34931253-34935953 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4701 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 18.48 cM
  • Mapping Data
    20 experiments
Homology
more
  • Human Ortholog
    NEU1, neuraminidase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NEU1, neuraminidase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NANH, NEU, SIAL1
  • Links
    NCBI Gene ID: 4758
    neXtProt AC: NX_Q99519

  • Chr Location
    6p21.3; chr6:31859052-31862932 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 375
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: NEU1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Neu1 mouse models; 1 with human NEU1 associations

Human Disease Mouse Models
       Neuraminidase Deficiency   OMIM: 256550 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 2 alleles in 3 genetic backgrounds
    23 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.
Nullizygous mice develop features of early-onset lysosomal storage disease (sialidosis), including severe nephropathy, edema, splenomegaly, kyphosis and oligosacchariduria, and display myoclonus, lordosis, extramedullary hematopoiesis, dyspnea, weight loss, gait defects, tremors and premature death.
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 OTTMUSG00000037276 VEGA Gene Model | MGI Sequence Detail 4701 C57BL/6J ±  kb
transcript OTTMUST00000096159 VEGA | MGI Sequence Detail 2474 Not Applicable  
polypeptide OTTMUSP00000053690 VEGA | MGI Sequence Detail 409 Not Applicable  
For the selected sequence
Protein
Information
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Molecular
Reagents
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  • All nucleic 175
    Genomic 3
    cDNA 170
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1182, MGD-MRK-12114, MGD-MRK-12819, MGD-MRK-12820, MGD-MRK-1358, MGD-MRK-1504, MGD-MRK-1512, MGI:2146738, MGI:2146740, MGI:88131
References
more
  • Summaries
    All 84
    Developmental Gene Expression 10
    Diseases 2
    Gene Ontology 6
    Phenotypes 23
  • Earliest
    J:4457 Lalley PA, et al., Lysosomal Acid Phosphatase Deficiency: Liver Specific Variant in the Mouse. Genetics. 1977 Oct;87(2):305-317
  • Latest
    J:233934 Neves Jde C, et al., Neuraminidase-1 mediates skeletal muscle regeneration. Biochim Biophys Acta. 2015 Sep;1852(9):1755-64

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory