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Hgsnat Gene Detail
Summary
  • Symbol
    Hgsnat
  • Name
    heparan-alpha-glucosaminide N-acetyltransferase
  • Synonyms
    9430010M12Rik, D8Ertd354e, Tmem76
  • Feature Type
    protein coding gene
  • IDs
    MGI:1196297
    NCBI Gene: 52120
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:26434481-26466781 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 14.22 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1329 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1196297
 protein coding gene Chr8:26432495-26466781 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033492
 protein coding gene Chr8:24024010-24056632 (-)
A/J MGP_AJ_G0033472
 protein coding gene Chr8:23144208-23175899 (-)
AKR/J MGP_AKRJ_G0033397
 protein coding gene Chr8:23913407-23944373 (-)
BALB/cJ MGP_BALBcJ_G0033468
 protein coding gene Chr8:23294764-23327618 (-)
C3H/HeJ MGP_C3HHeJ_G0033182
 protein coding gene Chr8:24124934-24155987 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033984
 protein coding gene Chr8:25001256-25037705 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030934
 protein coding gene Chr8:20421798-20453049 (-)
CAST/EiJ MGP_CASTEiJ_G0032508
 protein coding gene Chr8:23569968-23601516 (-)
CBA/J MGP_CBAJ_G0033157
 protein coding gene Chr8:25972551-26008935 (-)
DBA/2J MGP_DBA2J_G0033312
 protein coding gene Chr8:23114050-23146094 (-)
FVB/NJ MGP_FVBNJ_G0033256
 protein coding gene Chr8:22925300-22956971 (-)
LP/J MGP_LPJ_G0033401
 protein coding gene Chr8:23995234-24028864 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033299
 protein coding gene Chr8:25429867-25464532 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034003
 protein coding gene Chr8:23842053-23873779 (-)
PWK/PhJ MGP_PWKPhJ_G0032219
 protein coding gene Chr8:22755522-22788270 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032053
 protein coding gene Chr8:23228930-23264785 (-)
WSB/EiJ MGP_WSBEiJ_G0032624
 protein coding gene Chr8:24063189-24096609 (-)



Homology
more
  • Human Ortholog
    HGSNAT, heparan-alpha-glucosaminide N-acetyltransferase
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HGSNAT, heparan-alpha-glucosaminide N-acetyltransferase
  • Synonyms
    HGNAT, MPS3C, RP73, TMEM76
  • Links
    NCBI Gene ID: 138050
    neXtProt AC: NX_Q68CP4
    UniProt: Q68CP4

  • Chr Location
    8p11.21-p11.1; chr8:43140464-43202855 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hgsnat mouse models; 2 with human HGSNAT associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    39 phenotypes from 2 alleles in 2 genetic backgrounds
    21 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.
Mice homozygous for a knock-out allele exhibit progressive storage pathology in the CNS and peripheral organs, glycosaminoglycan accumulation in brain and most somatic organs, lysosomal distension and dysfunction, astrocytosis, microgliosis, hepatosplenomegaly, behavioral deficits and premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    4
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    755
  • Tissues
    33
  • cDNA Data
    79
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037260 Ensembl Gene Model | MGI Sequence Detail 32301 C57BL/6J ±  kb
    transcript ENSMUST00000037609 Ensembl | MGI Sequence Detail 2694 Not Applicable  
    polypeptide ENSMUSP00000040356 Ensembl | MGI Sequence Detail 624 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000008537 heparan-alpha-glucosaminide N-acetyltransferase
      (term hierarchy)
    • EC
      2.3.1.78
    • InterPro Domains
      IPR012429 Heparan-alpha-glucosaminide N-acetyltransferase, catalytic domain
    • GlyGen
      Q3UDW8 3 sites, 4 N-linked glycans (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 82
      cDNA 79
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1924492, MGI:2142772
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 4
      Phenotypes 21
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:351857 Pan X, et al., Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC. Cells. 2024 May 20;13(10)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory