Man2b1 mannosidase 2, alpha B1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Man2b1provided by MGI
Official Full Name: mannosidase 2, alpha B1provided by MGI
Primary source: MGI:MGI:107286
See related: Ensembl:ENSMUSG00000005142 AllianceGenome:MGI:107286
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LAMAN
Summary: Enables alpha-mannosidase activity. Involved in oligosaccharide catabolic process. Acts upstream of or within learning or memory and mannose metabolic process. Is active in lysosomal lumen. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study alpha-mannosidosis. Human ortholog(s) of this gene implicated in alpha-mannosidosis. Orthologous to human MAN2B1 (mannosidase alpha class 2B member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in genital fat pad adult (RPKM 43.7), spleen adult (RPKM 42.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C3; 8 41.55 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (85809941..85824215)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (85082730..85098739)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mannose receptor (-/-) liver sinusoidal endothelial cells had markedly and significantly reduced enzyme activities for four out of five lysosomal enzymes tested, i.e., cathepsin-D, alpha-mannosidase, beta-hexosaminidase and arylsulfatase.
Title: Liver sinusoidal endothelial cells depend on mannose receptor-mediated recruitment of lysosomal enzymes for normal degradation capacity.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW107687 (e-PCR)
- UniSTS:179776

Man2b1 (e-PCR), detects polymorphism
- UniSTS:507039

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables D-mannose binding	IEA Inferred from Electronic Annotation more info
enables D-mannose binding	ISO Inferred from Sequence Orthology more info
enables alpha-mannosidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-mannosidase activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-mannosidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables alpha-mannosidase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within learning or memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mannose metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within mannose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oligosaccharide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein modification process	IEA Inferred from Electronic Annotation more info
involved_in protein modification process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in lysosomal lumen	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: lysosomal alpha-mannosidase

Names: lysosomal acid alpha-mannosidase; mannosidase alpha class 2B member 1; mannosidase alpha-B

NP_001411770.1

EC 3.2.1.24

NP_001411771.1

EC 3.2.1.24

NP_001411772.1

EC 3.2.1.24

NP_034894.2

EC 3.2.1.24

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001424841.1 → NP_001411770.1 lysosomal alpha-mannosidase isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC163703
NM_001424842.1 → NP_001411771.1 lysosomal alpha-mannosidase isoform 3

Status: VALIDATED

Source sequence(s)

AC163703
NM_001424843.1 → NP_001411772.1 lysosomal alpha-mannosidase isoform 3

Status: VALIDATED

Source sequence(s)

AC163703
NM_010764.3 → NP_034894.2 lysosomal alpha-mannosidase isoform 1 precursor

See identical proteins and their annotated locations for NP_034894.2

Status: VALIDATED

Source sequence(s)

AC163703

Consensus CDS

CCDS22494.1

UniProtKB/Swiss-Prot

O09159, O55037, Q3UGH3, Q64443, Q9DBQ1

UniProtKB/TrEMBL

Q3TBM1

Related

ENSMUSP00000034121.10, ENSMUST00000034121.11

Conserved Domains (3) summary

cd10810
Location:63 → 341

GH38N_AMII_LAM_like; N-terminal catalytic domain of lysosomal alpha-mannosidase and similar proteins; glycoside hydrolase family 38 (GH38)

smart00872
Location:387 → 465

Alpha-mann_mid; Alpha mannosidase, middle domain

pfam07748
Location:510 → 1001

Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain