Aga MGI Mouse Gene Detail - MGI:104873 - aspartylglucosaminidase

Symbol

Aga
Name

aspartylglucosaminidase

Feature Type

protein coding gene
IDs

MGI:104873
NCBI Gene: 11593
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr8:53964762-53976456 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 29.13 cM, cytoband B3
Mapping Data

3 experiments

SNPs within 2kb

559 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104873	protein coding gene	Chr8:53964718-53976457 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033608	protein coding gene	Chr8:53097129-53110325 (+)
A/J	MGP_AJ_G0033590	protein coding gene	Chr8:50904756-50916337 (+)
AKR/J	MGP_AKRJ_G0033515	protein coding gene	Chr8:52317117-52328674 (+)
BALB/cJ	MGP_BALBcJ_G0033587	protein coding gene	Chr8:51126667-51138230 (+)
C3H/HeJ	MGP_C3HHeJ_G0033296	protein coding gene	Chr8:53025551-53037716 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034103	protein coding gene	Chr8:55093857-55106451 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031051	protein coding gene	Chr8:46782776-46793791 (+)
CAST/EiJ	MGP_CASTEiJ_G0032622	protein coding gene	Chr8:52617894-52631204 (+)
CBA/J	MGP_CBAJ_G0033275	protein coding gene	Chr8:57125213-57138573 (+)
DBA/2J	MGP_DBA2J_G0033428	protein coding gene	Chr8:50702724-50714611 (+)
FVB/NJ	MGP_FVBNJ_G0033369	protein coding gene	Chr8:50040936-50052442 (+)
LP/J	MGP_LPJ_G0033516	protein coding gene	Chr8:53088390-53100691 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033413	protein coding gene	Chr8:58190128-58202053 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034121	protein coding gene	Chr8:52621180-52637986 (+)
PWK/PhJ	MGP_PWKPhJ_G0032330	protein coding gene	Chr8:50236693-50248215 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032166	protein coding gene	Chr8:51719910-51779397 (+)
WSB/EiJ	MGP_WSBEiJ_G0032738	protein coding gene	Chr8:52859805-52875083 (+)

Human Ortholog

AGA, aspartylglucosaminidase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AGA, aspartylglucosaminidase
Synonyms

AGU, ASRG, GA
Links

HGNC:318

NCBI Gene ID: 175

neXtProt AC: NX_P20933

UniProt: P20933
Chr Location

4q34.3; chr4:177430774-177442437 (-) GRCh38

MGI Vertebrate Homology

Aga stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AGA
Gene Tree

Aga

Diseases

1 with Aga mouse models; 2 with human AGA associations

Human Disease

Mouse Models

aspartylglucosaminuria

IDs

View 2 models

lysosomal storage disease

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

33 phenotypes from 2 alleles in 2 genetic backgrounds
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

4
Chemically induced (other)

1
Endonuclease-mediated

1
Targeted

2
Genomic Mutations

1 involving Aga
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for targeted mutations that inactivate this gene die prematurely and share most of the clinical, biochemical and histopathological characteristics of human aspartylglycosaminuria.

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All GO Annotations

16
GO References

7

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

801
Tissues

94
cDNA Data

42
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase aga

ZFIN aga

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All Sequences

53
RefSeq

7
UniProt

4
CCDS

CCDS22304.1, CCDS85539.1

Ensembl

ENSMUSG00000031521 (Evidence)
NCBI Gene

11593

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031521	Ensembl Gene Model \| MGI Sequence Detail	11695	C57BL/6J	± kb
transcript	ENSMUST00000033920	Ensembl \| MGI Sequence Detail	1181	Not Applicable
polypeptide	ENSMUSP00000033920	Ensembl \| MGI Sequence Detail	346	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000003812 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase

(term hierarchy)
EC

3.5.1.26
InterPro Domains

IPR029055 Nucleophile aminohydrolases, N-terminal

IPR000246 Peptidase T2, asparaginase 2
GlyGen

Q64191 2 sites

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All nucleic 48

Genomic 5

cDNA 42

Primer pair 1

Microarray probesets 3

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MGD-MRK-28172, MGI:2142754

Summaries

All 40

Developmental Gene Expression 2

Diseases 2

Gene Ontology 7

Phenotypes 12
Earliest

J:39557 Makino M, et al., Enzymatic cleavage of glycopeptides. Biochem Biophys Res Commun. 1966 Sep 22;24(6):961-6
Latest

J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

TSS for Aga:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr77357	Chr8:53964730-53964774 (+)	-10 bp
Tssr77358	Chr8:53964809-53964843 (+)	64 bp
Tssr77359	Chr8:53964850-53964873 (+)	100 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24