Hgsnat (heparan-alpha-glucosaminide N-acetyltransferase) - Rat Genome Database

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Gene: Hgsnat (heparan-alpha-glucosaminide N-acetyltransferase) Mus musculus
Analyze
Symbol: Hgsnat
Name: heparan-alpha-glucosaminide N-acetyltransferase
RGD ID: 1623253
MGI Page MGI
Description: Enables heparan-alpha-glucosaminide N-acetyltransferase activity. Involved in heparan sulfate proteoglycan catabolic process. Is active in lysosomal lumen. Is expressed in central nervous system; eye; and long bone epiphyseal plate. Used to study mucopolysaccharidosis III and mucopolysaccharidosis type IIIC. Human ortholog(s) of this gene implicated in mucopolysaccharidosis type IIIC and retinitis pigmentosa 73. Orthologous to human HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 9430010M12Rik; AW208455; D8Ertd354; D8Ertd354e; Tmem76; transmembrane protein 76
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39826,432,495 - 26,466,704 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl826,434,481 - 26,466,781 (-)EnsemblGRCm39 Ensembl
GRCm38825,944,459 - 25,976,744 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl825,944,453 - 25,976,753 (-)EnsemblGRCm38mm10GRCm38
MGSCv37827,054,931 - 27,087,216 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36827,410,004 - 27,412,027 (-)NCBIMGSCv36mm8
Celera827,412,295 - 27,443,966 (-)NCBICelera
Cytogenetic Map8A2NCBI
cM Map814.22NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal bronchus epithelium morphology  (IAGP)
abnormal cerebral cortex morphology  (IAGP)
abnormal cholesterol homeostasis  (IEA)
abnormal CNS glial cell morphology  (IAGP)
abnormal enzyme/coenzyme activity  (IAGP)
abnormal glycosaminoglycan level  (IAGP)
abnormal hepatocyte morphology  (IAGP)
abnormal Kupffer cell morphology  (IAGP)
abnormal lung morphology  (IEA)
abnormal lysosome morphology  (IAGP)
abnormal mitochondrial crista morphology  (IAGP)
abnormal nervous system morphology  (IAGP)
abnormal neuron mitochondrial morphology  (IAGP)
abnormal proximal convoluted tubule morphology  (IAGP)
abnormal Purkinje cell mitochondrial morphology  (IAGP)
abnormal Purkinje cell morphology  (IAGP)
abnormal ventricle myocardium morphology  (IAGP)
astrocytosis  (IAGP)
decreased exploration in new environment  (IEA)
decreased locomotor activity  (IAGP)
decreased total body fat amount  (IEA)
enlarged liver  (IAGP)
enlarged lymph nodes  (IEA)
enlarged spleen  (IAGP)
enlarged urinary bladder  (IEA)
increased anxiety-related response  (IAGP)
increased blood urea nitrogen level  (IAGP)
increased bone mineral content  (IEA)
increased circulating alanine transaminase level  (IAGP)
increased circulating alkaline phosphatase level  (IEA)
increased circulating phosphate level  (IEA)
increased circulating potassium level  (IEA)
increased lean body mass  (IEA)
increased liver weight  (IAGP)
increased spleen weight  (IAGP)
increased startle reflex  (IEA)
microgliosis  (IAGP)
premature death  (IAGP)
short tibia  (IEA)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10349636   PMID:10725249   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12466851   PMID:12477932   PMID:14610273   PMID:15489334   PMID:15782199   PMID:16141072  
PMID:16141073   PMID:16602821   PMID:16960811   PMID:17033958   PMID:18799693   PMID:21267068   PMID:21677750   PMID:21873635   PMID:25567323   PMID:25600960   PMID:25859010   PMID:27491071  
PMID:29788236   PMID:31157913   PMID:34156977   PMID:35704026   PMID:36858249   PMID:38163061   PMID:38355793  


Genomics

Comparative Map Data
Hgsnat
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39826,432,495 - 26,466,704 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl826,434,481 - 26,466,781 (-)EnsemblGRCm39 Ensembl
GRCm38825,944,459 - 25,976,744 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl825,944,453 - 25,976,753 (-)EnsemblGRCm38mm10GRCm38
MGSCv37827,054,931 - 27,087,216 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36827,410,004 - 27,412,027 (-)NCBIMGSCv36mm8
Celera827,412,295 - 27,443,966 (-)NCBICelera
Cytogenetic Map8A2NCBI
cM Map814.22NCBI
HGSNAT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38843,140,464 - 43,202,855 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl843,140,464 - 43,202,855 (+)EnsemblGRCh38hg38GRCh38
GRCh37842,995,607 - 43,057,998 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36843,114,749 - 43,177,127 (+)NCBINCBI36Build 36hg18NCBI36
Celera841,950,967 - 42,005,677 (+)NCBICelera
Cytogenetic Map8p11.21-p11.1NCBI
HuRef841,518,326 - 41,580,566 (+)NCBIHuRef
CHM1_1843,042,515 - 43,105,151 (+)NCBICHM1_1
T2T-CHM13v2.0843,409,397 - 43,471,962 (+)NCBIT2T-CHM13v2.0
Hgsnat
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81672,807,967 - 72,840,180 (+)NCBIGRCr8
mRatBN7.21666,105,233 - 66,137,444 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1666,105,181 - 66,136,138 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1671,384,094 - 71,416,277 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01674,790,423 - 74,822,606 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01670,030,536 - 70,062,632 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01670,876,557 - 70,909,443 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01670,540,794 - 70,572,512 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41670,511,545 - 70,513,470 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1664,016,244 - 64,048,685 (+)NCBICelera
Cytogenetic Map16q12.4NCBI
Hgsnat
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545713,349,213 - 13,387,251 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545713,351,963 - 13,386,521 (+)NCBIChiLan1.0ChiLan1.0
HGSNAT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2761,597,533 - 61,657,575 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1837,313,523 - 37,373,552 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0842,388,406 - 42,448,466 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1839,832,143 - 39,888,948 (+)NCBIpanpan1.1PanPan1.1panPan2
HGSNAT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11622,640,912 - 22,683,733 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1622,642,289 - 22,683,879 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1623,146,111 - 23,188,937 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01624,392,606 - 24,435,430 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1624,392,606 - 24,435,665 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11622,760,972 - 22,803,889 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01623,325,689 - 23,368,698 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01623,376,944 - 23,419,965 (-)NCBIUU_Cfam_GSD_1.0
Hgsnat
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494345,659,294 - 45,699,457 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936570258,820 - 297,762 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936570257,636 - 297,797 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100154844
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1178,644,388 - 8,665,004 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2179,522,494 - 9,545,601 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HGSNAT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1841,146,280 - 41,196,192 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl841,146,483 - 41,197,518 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666052551,844 - 602,374 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hgsnat
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624992101,546 - 153,599 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462499286,403 - 153,100 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Hgsnat
1319 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:237
Count of miRNA genes:179
Interacting mature miRNAs:204
Transcripts:ENSMUST00000037609
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
11533914Mts5_mmammary tumor susceptibility 5 (mouse)8130447432Mouse
4140978Nilac5_mnicotine induced locomotor activity 5 (mouse)Not determined8131773288Mouse
27226756Femd2_mfemur midshaft diameter 2, 5 week (mouse)8495000035067154Mouse
1301532Scc8_mcolon tumor susceptibility 8 (mouse)Not determined8721249935110107Mouse
1300906Ap8q_malcohol preference 8 QTL (mouse)Not determined8798418941984342Mouse
10412209Cypr7_mcytokine production 7 (mouse)Not determined8810320142103372Mouse
1301929Eae24_msusceptibility to experimental allergic encephalomyelitis 24 (mouse)Not determined8810320142103372Mouse
1301128Sluc20_msusceptibility to lung cancer 20 (mouse)Not determined8810320142103372Mouse
11532713Sluc42_msusceptibility to lung cancer 42 (mouse)81344721035321225Mouse
1558870Eae36_mexperimental allergic encephalomyelitis susceptibility 36 (mouse)Not determined81477316071498244Mouse
1301088Alcw6_malcohol withdrawal 6 (mouse)Not determined81550657249506729Mouse
1300912Daq19_mdirectional asymmetry QTL 19 (mouse)Not determined81550657249506729Mouse
1301298Pgia4_mproteoglycan induced arthritis 4 (mouse)Not determined81656937350569697Mouse
4142199Poats1_mpost-ovarectomy adrenal tumor susceptibility 1 (mouse)Not determined1708262628849467Mouse
1301550Fembrs2_mfemur breaking strength 2 (mouse)Not determined81832109752321225Mouse
1301160Eae14_msusceptibility to experimental allergic encephalomyelitis 14 (mouse)Not determined81945501853455150Mouse
1300603Cd8ts2_mCD8 T cell subset 2 (mouse)Not determined81945501853455150Mouse

Markers in Region
AW208455  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38825,944,755 - 25,944,850UniSTSGRCm38
MGSCv37827,055,227 - 27,055,322UniSTSGRCm37
Celera827,412,591 - 27,412,686UniSTS
Cytogenetic Map8A2UniSTS
cM Map88.0UniSTS
Whitehead/MRC_RH8307.49UniSTS
RH127031  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38825,944,463 - 25,944,680UniSTSGRCm38
MGSCv37827,054,935 - 27,055,152UniSTSGRCm37
Celera827,412,299 - 27,412,516UniSTS
Cytogenetic Map8A2UniSTS
cM Map88.0UniSTS
Whitehead/MRC_RH8307.17UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_029884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC122752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK020410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK035264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK149883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK152926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK159649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK160068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK189846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK191575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK198139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK199893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK204793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK205382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK209731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK209791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSMUST00000037609   ⟹   ENSMUSP00000040356
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl826,434,481 - 26,466,781 (-)Ensembl
GRCm38.p6 Ensembl825,944,453 - 25,976,753 (-)Ensembl
RefSeq Acc Id: ENSMUST00000209420
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl826,461,671 - 26,462,256 (-)Ensembl
GRCm38.p6 Ensembl825,971,643 - 25,972,228 (-)Ensembl
RefSeq Acc Id: ENSMUST00000210894
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl826,434,911 - 26,442,171 (-)Ensembl
GRCm38.p6 Ensembl825,944,883 - 25,952,143 (-)Ensembl
RefSeq Acc Id: ENSMUST00000211550   ⟹   ENSMUSP00000147675
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl826,458,445 - 26,464,081 (-)Ensembl
GRCm38.p6 Ensembl825,968,417 - 25,974,053 (-)Ensembl
RefSeq Acc Id: NM_029884   ⟹   NP_084160
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39826,432,495 - 26,466,704 (-)NCBI
GRCm38825,944,459 - 25,976,744 (-)ENTREZGENE
MGSCv37827,054,931 - 27,087,216 (-)RGD
Celera827,412,295 - 27,443,966 (-)RGD
cM Map8 ENTREZGENE
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_084160   ⟸   NM_029884
- Peptide Label: precursor
- Sequence:
RefSeq Acc Id: ENSMUSP00000147675   ⟸   ENSMUST00000211550
RefSeq Acc Id: ENSMUSP00000040356   ⟸   ENSMUST00000037609

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3UDW8-F1-model_v2 AlphaFold Q3UDW8 1-656 view protein structure

Promoters
RGD ID:8666785
Promoter ID:EPDNEW_M11424
Type:initiation region
Name:Hgsnat_1
Description:Mus musculus heparan-alpha-glucosaminide N-acetyltransferase, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38825,976,676 - 25,976,736EPDNEW
RGD ID:6843292
Promoter ID:MM_KWN:54035
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:NM_029884
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36827,086,966 - 27,087,466 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1196297 AgrOrtholog
Ensembl Genes ENSMUSG00000037260 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000037609 ENTREZGENE
  ENSMUST00000037609.8 UniProtKB/Swiss-Prot
  ENSMUST00000211550.2 UniProtKB/TrEMBL
InterPro DUF1624 UniProtKB/Swiss-Prot
KEGG Report mmu:52120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:1196297 ENTREZGENE
NCBI Gene 52120 ENTREZGENE
PANTHER HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE UniProtKB/Swiss-Prot
  LD22376P UniProtKB/Swiss-Prot
Pfam DUF1624 UniProtKB/Swiss-Prot
PhenoGen Hgsnat PhenoGen
UniProt A0A1B0GRV1_MOUSE UniProtKB/TrEMBL
  HGNAT_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q8VCQ1_MOUSE UniProtKB/TrEMBL
  Q9CX36_MOUSE UniProtKB/TrEMBL
UniProt Secondary E9QNP9 UniProtKB/Swiss-Prot
  Q3TWK5 UniProtKB/Swiss-Prot
  Q8CBU7 UniProtKB/Swiss-Prot
  Q8CIE1 UniProtKB/Swiss-Prot