Version 5.4
| Homo sapiens Gene: MAN1B1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-93060.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | MAN1B1 | ||||||||||||||||||
| Gene Name | mannosidase, alpha, class 1B, member 1 | ||||||||||||||||||
| Synonyms | ERMAN1; MANA-ER; MRT15 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000177239 | ||||||||||||||||||
| Encoded Proteins |
mannosidase, alpha, class 1B, member 1
mannosidase, alpha, class 1B, member 1
mannosidase, alpha, class 1B, member 1
mannosidase, alpha, class 1B, member 1
mannosidase, alpha, class 1B, member 1
mannosidase, alpha, class 1B, member 1
mannosidase, alpha, class 1B, member 1
mannosidase, alpha, class 1B, member 1
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 9:137086927-137109187 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q34.3 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
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Gene ID
Gene Order
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
ER Quality Control Compartment (ERQC) pathway
Calnexin/calreticulin cycle pathway
N-glycan trimming in the ER and Calnexin/Calreticulin cycle pathway
Asparagine N-linked glycosylation pathway
Post-translational protein modification pathway
Metabolism of proteins pathway
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| KEGG |
N-Glycan biosynthesis pathway
Protein processing in endoplasmic reticulum pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.715863 | ||||||||||||||||||
| RefSeq | NM_016219 XM_006716945 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS7029 | ||||||||||||||||||
| HPRD | 05068 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||