MGI:Hexb

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Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes
	GO:0001501	skeletal system development	MGI:MGI:83770 PMID:8896570^[1]	IGI: Inferred from Genetic Interaction	MGI:MGI:96073	P	From MGI
	GO:0001501	skeletal system development	MGI:MGI:894634 PMID:9184660^[2]	IGI: Inferred from Genetic Interaction	MGI:MGI:96073	P	From MGI
	GO:0001669	acrosomal vesicle	MGI:MGI:3582046 PMID:8269854^[3]	IDA: Inferred from Direct Assay		C	From MGI
	GO:0003824	catalytic activity	MGI:MGI:2152098	IEA: Inferred from Electronic Annotation	InterPro:IPR013781	F	From MGI
	GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	MGI:MGI:2152098	IEA: Inferred from Electronic Annotation	InterPro:IPR015883	F	From MGI
	GO:0004563	beta-N-acetylhexosaminidase activity	MGI:MGI:1101658 PMID:9417048^[4]	IDA: Inferred from Direct Assay		F	From MGI
	GO:0004563	beta-N-acetylhexosaminidase activity	MGI:MGI:3033879 PMID:11854359^[5]	IDA: Inferred from Direct Assay		F	From MGI
	GO:0004563	beta-N-acetylhexosaminidase activity	MGI:MGI:3582046 PMID:8269854^[3]	IDA: Inferred from Direct Assay		F	From MGI
	GO:0004563	beta-N-acetylhexosaminidase activity	MGI:MGI:54946 PMID:7203014^[6]	IDA: Inferred from Direct Assay		F	From MGI
	GO:0004563	beta-N-acetylhexosaminidase activity	MGI:MGI:78473 PMID:8789434^[7]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	F	From MGI
	GO:0004563	beta-N-acetylhexosaminidase activity	MGI:MGI:83770 PMID:8896570^[1]	IGI: Inferred from Genetic Interaction	MGI:MGI:96073	F	From MGI
	GO:0004563	beta-N-acetylhexosaminidase activity	MGI:MGI:86774 PMID:9122231^[8]	IDA: Inferred from Direct Assay		F	From MGI
	GO:0005625	soluble fraction	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_001011946	C	From MGI
	GO:0005764	lysosome	MGI:MGI:3033879 PMID:11854359^[5]	IDA: Inferred from Direct Assay		C	From MGI
	GO:0005764	lysosome	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_001011946	C	From MGI
	GO:0005975	carbohydrate metabolic process	MGI:MGI:2152098	IEA: Inferred from Electronic Annotation	InterPro:IPR015883 InterPro:IPR013781	P	From MGI
	GO:0006044	N-acetylglucosamine metabolic process	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_001011946	P	From MGI
	GO:0006687	glycosphingolipid metabolic process	MGI:MGI:78473 PMID:8789434^[7]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	P	From MGI
	GO:0006689	ganglioside catabolic process	MGI:MGI:1271008 PMID:9645704^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	P	From MGI
	GO:0006689	ganglioside catabolic process	MGI:MGI:1331265 PMID:10021458^[10]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0006689	ganglioside catabolic process	MGI:MGI:2670850 PMID:12756243^[11]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0006689	ganglioside catabolic process	MGI:MGI:3041658 PMID:12657883^[12]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0006689	ganglioside catabolic process	MGI:MGI:3573807 PMID:15748167^[13]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0006689	ganglioside catabolic process	MGI:MGI:76816 PMID:8566348^[14]	IMP: Inferred from Mutant Phenotype		P	From MGI
	GO:0006689	ganglioside catabolic process	MGI:MGI:78473 PMID:8789434^[7]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	P	From MGI
	GO:0006689	ganglioside catabolic process	MGI:MGI:894862 PMID:9223328^[15]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0006874	cellular calcium ion homeostasis	MGI:MGI:2670850 PMID:12756243^[11]	IGI: Inferred from Genetic Interaction	MGI:MGI:88110	P	From MGI
	GO:0006874	cellular calcium ion homeostasis	MGI:MGI:2670850 PMID:12756243^[11]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:1271008 PMID:9645704^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:78473 PMID:8789434^[7]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:83770 PMID:8896570^[1]	IGI: Inferred from Genetic Interaction	MGI:MGI:96073	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:894634 PMID:9184660^[2]	IGI: Inferred from Genetic Interaction	MGI:MGI:96073	P	From MGI
	GO:0007338	single fertilization	MGI:MGI:2670850 PMID:12756243^[11]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	P	From MGI
	GO:0007341	penetration of zona pellucida	MGI:MGI:3582046 PMID:8269854^[3]	IMP: Inferred from Mutant Phenotype		P	From MGI
	GO:0007605	sensory perception of sound	MGI:MGI:83770 PMID:8896570^[1]	IGI: Inferred from Genetic Interaction	MGI:MGI:96073	P	From MGI
	GO:0007626	locomotory behavior	MGI:MGI:76799 PMID:7550345^[16]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0007626	locomotory behavior	MGI:MGI:83770 PMID:8896570^[1]	IGI: Inferred from Genetic Interaction	MGI:MGI:96073	P	From MGI
	GO:0008049	male courtship behavior	MGI:MGI:2450169 PMID:12617783^[17]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	P	From MGI
	GO:0008360	regulation of cell shape	MGI:MGI:3044466 PMID:15155903^[18]	IMP: Inferred from Mutant Phenotype		P	From MGI
	GO:0008654	phospholipid biosynthetic process	MGI:MGI:3047051 PMID:15198669^[19]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0009313	oligosaccharide catabolic process	MGI:MGI:1331265 PMID:10021458^[10]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0009313	oligosaccharide catabolic process	MGI:MGI:3573807 PMID:15748167^[13]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0015929	hexosaminidase activity	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_001011946	F	From MGI
	GO:0016020	membrane	MGI:MGI:3033879 PMID:11854359^[5]	IDA: Inferred from Direct Assay		C	From MGI
	GO:0016231	beta-N-acetylglucosaminidase activity	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_001011946	F	From MGI
	GO:0016787	hydrolase activity	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0378	F	From MGI
	GO:0016798	hydrolase activity, acting on glycosyl bonds	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0326	F	From MGI
	GO:0019915	lipid storage	MGI:MGI:1331265 PMID:10021458^[10]	IGI: Inferred from Genetic Interaction	MGI:MGI:1342057	P	From MGI
	GO:0019915	lipid storage	MGI:MGI:1331265 PMID:10021458^[10]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0019915	lipid storage	MGI:MGI:76799 PMID:7550345^[16]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0019915	lipid storage	MGI:MGI:78473 PMID:8789434^[7]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	P	From MGI
	GO:0019915	lipid storage	MGI:MGI:894862 PMID:9223328^[15]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0019953	sexual reproduction	MGI:MGI:1271008 PMID:9645704^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	P	From MGI
	GO:0030203	glycosaminoglycan metabolic process	MGI:MGI:83770 PMID:8896570^[1]	IGI: Inferred from Genetic Interaction	MGI:MGI:96073	P	From MGI
	GO:0030246	carbohydrate binding	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_001011946	F	From MGI
	GO:0031323	regulation of cellular metabolic process	MGI:MGI:3047051 PMID:15198669^[19]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0042552	myelination	MGI:MGI:894634 PMID:9184660^[2]	IGI: Inferred from Genetic Interaction	MGI:MGI:96073	P	From MGI
	GO:0042803	protein homodimerization activity	MGI:MGI:2154458	ISO: Inferred from Sequence Orthology	UniProtKB:P07686	F	From MGI
	GO:0042803	protein homodimerization activity	MGI:MGI:3582046 PMID:8269854^[3]	IDA: Inferred from Direct Assay		F	From MGI
	GO:0042803	protein homodimerization activity	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_001011946	F	From MGI
	GO:0043169	cation binding	MGI:MGI:2152098	IEA: Inferred from Electronic Annotation	InterPro:IPR013781	F	From MGI
	GO:0043615	astrocyte cell migration	MGI:MGI:3044466 PMID:15155903^[18]	IMP: Inferred from Mutant Phenotype		P	From MGI
	GO:0044267	cellular protein metabolic process	MGI:MGI:3041658 PMID:12657883^[12]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0045944	positive regulation of transcription from RNA polymerase II promoter	MGI:MGI:3044466 PMID:15155903^[18]	IMP: Inferred from Mutant Phenotype		P	From MGI
	GO:0046982	protein heterodimerization activity	MGI:MGI:2154458	ISO: Inferred from Sequence Orthology	UniProtKB:P07686	F	From MGI
	GO:0046982	protein heterodimerization activity	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_001011946	F	From MGI
	GO:0048477	oogenesis	MGI:MGI:894862 PMID:9223328^[15]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2429701	P	From MGI
	GO:0050885	neuromuscular process controlling balance	MGI:MGI:1203907 PMID:9584189^[20]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0050885	neuromuscular process controlling balance	MGI:MGI:1331265 PMID:10021458^[10]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0050885	neuromuscular process controlling balance	MGI:MGI:76799 PMID:7550345^[16]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0050885	neuromuscular process controlling balance	MGI:MGI:83770 PMID:8896570^[1]	IGI: Inferred from Genetic Interaction	MGI:MGI:96073	P	From MGI
	GO:0050905	neuromuscular process	MGI:MGI:1203907 PMID:9584189^[20]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0050905	neuromuscular process	MGI:MGI:1331265 PMID:10021458^[10]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
	GO:0050905	neuromuscular process	MGI:MGI:76799 PMID:7550345^[16]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1857438	P	From MGI
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 Sango K et al. (1996) Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis. Nat Genet 14: 348-52 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 Suzuki K et al. (1997) Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology. J Neuropathol Exp Neurol 56: 693-703 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Miller DJ et al. (1993) Sperm require beta-N-acetylglucosaminidase to penetrate through the egg zona pellucida. Development 118: 1279-89 PubMed GONUTS page
↑ Yuziuk JA et al. (1998) Specificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2. J Biol Chem 273: 66-72 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Lankar D et al. (2002) Dynamics of major histocompatibility complex class II compartments during B cell receptor-mediated cell activation. J Exp Med 195: 461-72 PubMed GONUTS page
↑ Gibb S et al. (1981) Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. Genet Res 37: 95-103 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 Phaneuf D et al. (1996) Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet 5: 1-14 PubMed GONUTS page
↑ Ohshima T et al. (1997) alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci U S A 94: 2540-4 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Trasler J et al. (1998) Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides. Endocrinology 139: 3280-8 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 ^10.3 ^10.4 ^10.5 Liu Y et al. (1999) A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder. J Clin Invest 103: 497-505 PubMed GONUTS page
↑ ^11.0 ^11.1 ^11.2 ^11.3 Pelled D et al. (2003) Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin. J Biol Chem 278: 29496-501 PubMed GONUTS page
↑ ^12.0 ^12.1 Suzuki K et al. (2003) Neuronal accumulation of alpha- and beta-synucleins in the brain of a GM2 gangliosidosis mouse model. Neuroreport 14: 551-4 PubMed GONUTS page
↑ ^13.0 ^13.1 Tsuji D et al. (2005) Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates. J Neurochem 92: 1497-507 PubMed GONUTS page
↑ Veal EA & Jackson MJ (1995) Expression of c-fos and c-myc in satellite cell cultures from dystrophic mdx and control mouse muscle. Biochem Soc Trans 23: 456S PubMed GONUTS page
↑ ^15.0 ^15.1 ^15.2 Liu Y et al. (1997) Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment. Proc Natl Acad Sci U S A 94: 8138-43 PubMed GONUTS page
↑ ^16.0 ^16.1 ^16.2 ^16.3 Sango K et al. (1995) Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat Genet 11: 170-6 PubMed GONUTS page
↑ Juneja SC (2002) Development of infertility at young adult age in a mouse model of human Sandhoff disease. Reprod Fertil Dev 14: 407-12 PubMed GONUTS page
↑ ^18.0 ^18.1 ^18.2 Wu YP & Proia RL (2004) Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Proc Natl Acad Sci U S A 101: 8425-30 PubMed GONUTS page
↑ ^19.0 ^19.1 Buccoliero R et al. (2004) Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease. J Neurochem 90: 80-8 PubMed GONUTS page
↑ ^20.0 ^20.1 Liao MJ et al. (1998) No requirement for V(D)J recombination in p53-deficient thymic lymphoma. Mol Cell Biol 18: 3495-501 PubMed GONUTS page

[PMID:8896570-0] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 Sango K et al. (1996) Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis. Nat Genet 14: 348-52 PubMed GONUTS page

[PMID:9184660-1] 2.0 ^2.1 ^2.2 Suzuki K et al. (1997) Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology. J Neuropathol Exp Neurol 56: 693-703 PubMed GONUTS page

[PMID:8269854-2] 3.0 ^3.1 ^3.2 ^3.3 Miller DJ et al. (1993) Sperm require beta-N-acetylglucosaminidase to penetrate through the egg zona pellucida. Development 118: 1279-89 PubMed GONUTS page

[PMID:9417048-3] Yuziuk JA et al. (1998) Specificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2. J Biol Chem 273: 66-72 PubMed GONUTS page

[PMID:11854359-4] 5.0 ^5.1 ^5.2 Lankar D et al. (2002) Dynamics of major histocompatibility complex class II compartments during B cell receptor-mediated cell activation. J Exp Med 195: 461-72 PubMed GONUTS page

[PMID:7203014-5] Gibb S et al. (1981) Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. Genet Res 37: 95-103 PubMed GONUTS page

[PMID:8789434-6] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 Phaneuf D et al. (1996) Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet 5: 1-14 PubMed GONUTS page

[PMID:9122231-7] Ohshima T et al. (1997) alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci U S A 94: 2540-4 PubMed GONUTS page

[PMID:9645704-8] 9.0 ^9.1 ^9.2 Trasler J et al. (1998) Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides. Endocrinology 139: 3280-8 PubMed GONUTS page

[PMID:10021458-9] 10.0 ^10.1 ^10.2 ^10.3 ^10.4 ^10.5 Liu Y et al. (1999) A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder. J Clin Invest 103: 497-505 PubMed GONUTS page

[PMID:12756243-10] 11.0 ^11.1 ^11.2 ^11.3 Pelled D et al. (2003) Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin. J Biol Chem 278: 29496-501 PubMed GONUTS page

[PMID:12657883-11] 12.0 ^12.1 Suzuki K et al. (2003) Neuronal accumulation of alpha- and beta-synucleins in the brain of a GM2 gangliosidosis mouse model. Neuroreport 14: 551-4 PubMed GONUTS page

[PMID:15748167-12] 13.0 ^13.1 Tsuji D et al. (2005) Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates. J Neurochem 92: 1497-507 PubMed GONUTS page

[PMID:8566348-13] Veal EA & Jackson MJ (1995) Expression of c-fos and c-myc in satellite cell cultures from dystrophic mdx and control mouse muscle. Biochem Soc Trans 23: 456S PubMed GONUTS page

[PMID:9223328-14] 15.0 ^15.1 ^15.2 Liu Y et al. (1997) Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment. Proc Natl Acad Sci U S A 94: 8138-43 PubMed GONUTS page

[PMID:7550345-15] 16.0 ^16.1 ^16.2 ^16.3 Sango K et al. (1995) Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat Genet 11: 170-6 PubMed GONUTS page

[PMID:12617783-16] Juneja SC (2002) Development of infertility at young adult age in a mouse model of human Sandhoff disease. Reprod Fertil Dev 14: 407-12 PubMed GONUTS page

[PMID:15155903-17] 18.0 ^18.1 ^18.2 Wu YP & Proia RL (2004) Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Proc Natl Acad Sci U S A 101: 8425-30 PubMed GONUTS page

[PMID:15198669-18] 19.0 ^19.1 Buccoliero R et al. (2004) Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease. J Neurochem 90: 80-8 PubMed GONUTS page

[PMID:9584189-19] 20.0 ^20.1 Liao MJ et al. (1998) No requirement for V(D)J recombination in p53-deficient thymic lymphoma. Mol Cell Biol 18: 3495-501 PubMed GONUTS page

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Species (Taxon ID)	Mus musculus (house mouse) (taxon:10090)
Gene Name(s)	Hexb
Protein Name(s)	hexosaminidase B,
External Links
MGI	MGI:96074

MGI:Hexb

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