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MAN1B1 mannosidase alpha class 1B member 1 [ Homo sapiens (human) ]

Gene ID: 11253, updated on 6-Jan-2019

Summary

Official Symbol
MAN1B1provided by HGNC
Official Full Name
mannosidase alpha class 1B member 1provided by HGNC
Primary source
HGNC:HGNC:6823
See related
Ensembl:ENSG00000177239 MIM:604346
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRT15; ERMAN1; ERManI; MANA-ER
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]
Expression
Ubiquitous expression in testis (RPKM 13.4), thyroid (RPKM 13.1) and 25 other tissues See more
Orthologs

Genomic context

See MAN1B1 in Genome Data Viewer
Location:
9q34.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (137086927..137109187)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139981379..140003639)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 Neighboring gene MAN1B1 divergent transcript Neighboring gene uncharacterized LOC101930307 Neighboring gene dipeptidyl peptidase 7 Neighboring gene glutamate ionotropic receptor NMDA type subunit 1 Neighboring gene uncharacterized LOC105376328

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 Env interacts with MAN1B1 (ERMan1) via the lumenal catalytic domain which inititates an edoplasmic reticulum (ER)- associated Env degradation process PubMed
env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
env HIV-1 gp120 N-linked oligosaccharides are processed by manosidase I and II in the Golgi complex PubMed
Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37559

Gene Ontology Provided by GOA

Process Evidence Code Pubs
N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum mannose trimming IMP
Inferred from Mutant Phenotype
more info
PubMed 
mannose trimming involved in glycoprotein ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
mannose trimming involved in glycoprotein ERAD pathway TAS
Traceable Author Statement
more info
PubMed 
oligosaccharide metabolic process TAS
Traceable Author Statement
more info
PubMed 
protein alpha-1,2-demannosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein alpha-1,2-demannosylation NAS
Non-traceable Author Statement
more info
PubMed 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
trimming of first mannose on A branch TAS
Traceable Author Statement
more info
 
trimming of second mannose on A branch TAS
Traceable Author Statement
more info
 
trimming of terminal mannose on B branch IDA
Inferred from Direct Assay
more info
PubMed 
trimming of terminal mannose on B branch IMP
Inferred from Mutant Phenotype
more info
PubMed 
trimming of terminal mannose on B branch TAS
Traceable Author Statement
more info
 
trimming of terminal mannose on C branch TAS
Traceable Author Statement
more info
 
ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum quality control compartment IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum quality control compartment TAS
Traceable Author Statement
more info
PubMed 
extracellular vesicle HDA PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
Names
ER alpha 1,2-mannosidase
Man9GlcNAc2-specific processing alpha-mannosidase
endoplasmic Reticulum Class I alpha-mannosidase
endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
NP_057303.2
XP_006717008.1
XP_016869728.1
XP_024303171.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_031978.1 RefSeqGene

    Range
    5001..27261
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016219.5NP_057303.2  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase

    See identical proteins and their annotated locations for NP_057303.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the supported protein.
    Source sequence(s)
    BC002953, BC006079
    Consensus CDS
    CCDS7029.1
    UniProtKB/Swiss-Prot
    Q9UKM7
    Related
    ENSP00000360645.4, ENST00000371589.8
    Conserved Domains (1) summary
    pfam01532
    Location:256695
    Glyco_hydro_47; Glycosyl hydrolase family 47

RNA

  1. NR_045720.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the expected start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF148509, AK315797, AL807752, AL929554, BC002953, BM848429, BQ448144
  2. NR_045721.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an additional exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the expected start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF148509, AK298480, AL807752, AL929554, BC002953, BM848429, BQ448144

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    137086927..137109187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447403.1XP_024303171.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X1

    Conserved Domains (1) summary
    pfam01532
    Location:256588
    Glyco_hydro_47; Glycosyl hydrolase family 47
  2. XM_006716945.4XP_006717008.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X2

    Related
    ENSP00000441398.2, ENST00000535144.5
    Conserved Domains (1) summary
    pfam01532
    Location:256633
    Glyco_hydro_47; Glycosyl hydrolase family 47
  3. XM_017014239.1XP_016869728.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X3

RNA

  1. XR_001746176.1 RNA Sequence

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