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

Gene ID: 11253, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:6823
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
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Genomic context

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Location:
9q34.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137086985..137109183)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149322873..149347137)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139981437..140003635)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139972693-139973571 Neighboring gene UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:139977971-139978205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20578 Neighboring gene MAN1B1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20579 Neighboring gene small nucleolar RNA SNORD62 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29344 Neighboring gene uncharacterized LOC124902313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20581 Neighboring gene uncharacterized LOC124902314 Neighboring gene dipeptidyl peptidase 7 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. MAN1B1-CDG: novel patients and novel variant. Kasapkara CS, et al. J Pediatr Endocrinol Metab, 2021 Sep 27. PMID 34162022
  2. MAN1B1 is associated with poor prognosis and modulates proliferation and apoptosis in bladder cancer. Wang HF, et al. Gene, 2018 Dec 30. PMID 30218751
  3. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. Balasubramanian M, et al. Eur J Med Genet, 2019 Feb. PMID 29908352
  4. Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation. Jaeken J, et al. Eur J Hum Genet, 2016 Jul. PMID 26577042, Free PMC Article
  5. Mammalian ER mannosidase I resides in quality control vesicles, where it encounters its glycoprotein substrates. Benyair R, et al. Mol Biol Cell, 2015 Jan 15. PMID 25411339, Free PMC Article

See all (95) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hepatitis B virus X protein promotes MAN1B1 expression by enhancing stability of GRP78 via TRIM25 to facilitate hepatocarcinogenesis.
    Title: Hepatitis B virus X protein promotes MAN1B1 expression by enhancing stability of GRP78 via TRIM25 to facilitate hepatocarcinogenesis.
  2. MAN1B1-CDG: novel patients and novel variant.
    Title: MAN1B1-CDG: novel patients and novel variant.
  3. The cytoplasmic tail of human mannosidase Man1b1 contributes to catalysis-independent quality control of misfolded alpha1-antitrypsin.
    Title: The cytoplasmic tail of human mannosidase Man1b1 contributes to catalysis-independent quality control of misfolded alpha1-antitrypsin.
  4. Novel MAN1B1 variants were identified in patients with facial dysmorphism, hypotonia, truncal obesity and in some, behavioural problems.
    Title: MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
  5. Results show that MAN1B1 expression was higher in bladder cancer (BC) tissues than those in normal tissues. Its overexpression was associated with poor prognosis. Furthermore, MAN1B1 seems to act as an oncogene in BC, which improved the likelihood of MAN1B1 taking on a promising prognostic biomarker.
    Title: MAN1B1 is associated with poor prognosis and modulates proliferation and apoptosis in bladder cancer.
  6. The two genetic associations with severe liver disease that had been suspected previously (one SNP for SERPINA1 and another for MAN1B1) were not confirmed in our cohort. For MAN1B1, four major haplotypes were identified but the prevalence of PHT did not significantly differ between them.
    Title: SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.
  7. in the bound substrate complex, hydrophobic stacking interactions between Trp residues and the glycan core anchor the base of the glycan structure to the enzyme cleft
    Title: Substrate recognition and catalysis by GH47 α-mannosidases involved in Asn-linked glycan maturation in the mammalian secretory pathway.
  8. MAN1B1 defective congenital disorder of glycosylation is reviewed.
    Title: Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.
  9. Data show that HIV-1 env protein interacts with alpha-mannosidases ERManI (MAN1B1) and initiates endoplasmic reticulum (ER)-associated protein degradation (ERAD) pathway degradation process.
    Title: ERManI (Endoplasmic Reticulum Class I α-Mannosidase) Is Required for HIV-1 Envelope Glycoprotein Degradation via Endoplasmic Reticulum-associated Protein Degradation Pathway.
  10. Results suggest that endoplasmic reticulum mannosidase I (ERManI) is turned over by an active autophagic process.
    Title: Mammalian ER mannosidase I resides in quality control vesicles, where it encounters its glycoprotein substrates.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Rafiq syndrome
MedGen: C3280127 OMIM: 614202 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37559

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding TAS
Traceable Author Statement
more info
 PubMed 
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mannoprotein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mannoprotein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mannose trimming involved in glycoprotein ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in oligosaccharide metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein alpha-1,2-demannosylation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in viral protein processing TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus TAS
Traceable Author Statement
more info
 PubMed 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum TAS
Traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum quality control compartment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum quality control compartment TAS
Traceable Author Statement
more info
 PubMed 
located_in extracellular vesicle HDA PubMed 
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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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_047301391.1
XP_047301392.1
XP_047301393.1
XP_047301394.1
XP_047301395.1
XP_047301396.1
XP_047301397.1
XP_047301398.1
XP_047301399.1
XP_047301400.1
XP_047301401.1
XP_047301402.1
XP_047301403.1
XP_047301404.1
XP_047301405.1
XP_047301406.1
XP_047301407.1
XP_047301408.1
XP_047301409.1
XP_047301410.1
XP_047301411.1
XP_047301412.1
XP_047301413.1
XP_047301414.1
XP_047301415.1
XP_047301416.1
XP_047301417.1
XP_047301418.1
XP_047301419.1
XP_047301420.1
XP_047301421.1
XP_047301422.1
XP_047301423.1
XP_047301424.1
XP_054217858.1

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.

Genomic

  1. NG_031978.1 RefSeqGene

    Range
    5059..27257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016219.5 → NP_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
    Q5VSG3, Q9BRS9, Q9UKM7, Q9Y5K7
    UniProtKB/TrEMBL
    A0A804HJ66
    Related
    ENSP00000360645.4, ENST00000371589.9
    Conserved Domains (1) summary
    pfam01532
    Location:256 → 695
    Glyco_hydro_47; Glycosyl hydrolase family 47

RNA

  1. NR_045720.2 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)
    AK315797, AL807752, AL929554, BC002953, BM848429
    Related
    ENST00000683135.1

  2. NR_045721.2 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)
    AK298480, AL807752, AL929554, BC002953, BM848429
    Related
    ENST00000684138.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    137086985..137109183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716945.5 → XP_006717008.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X1

    UniProtKB/TrEMBL
    B4DR05, H0YG20
    Related
    ENSP00000441398.3, ENST00000535144.6
    Conserved Domains (1) summary
    pfam01532
    Location:256 → 633
    Glyco_hydro_47; Glycosyl hydrolase family 47

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    149322873..149347137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361883.1 → XP_054217858.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X1

  2. XM_047445454.1 → XP_047301410.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X17

  3. XM_047445461.1 → XP_047301417.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X22

  4. XM_047445457.1 → XP_047301413.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X19

  5. XM_047445468.1 → XP_047301424.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X29

  6. XM_047445465.1 → XP_047301421.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X26

  7. XM_047445446.1 → XP_047301402.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X10

  8. XM_047445448.1 → XP_047301404.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X12

  9. XM_047445467.1 → XP_047301423.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X28

  10. XM_047445466.1 → XP_047301422.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X27

  11. XM_047445463.1 → XP_047301419.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X24

  12. XM_047445445.1 → XP_047301401.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X9

  13. XM_047445458.1 → XP_047301414.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X20

  14. XM_047445456.1 → XP_047301412.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X5

  15. XM_047445452.1 → XP_047301408.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X15

  16. XM_047445460.1 → XP_047301416.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X21

  17. XM_047445462.1 → XP_047301418.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X23

  18. XM_047445464.1 → XP_047301420.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X25

  19. XM_047445436.1 → XP_047301392.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X3

  20. XM_047445439.1 → XP_047301395.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X6

  21. XM_047445450.1 → XP_047301406.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X14

  22. XM_047445453.1 → XP_047301409.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X16

  23. XM_047445455.1 → XP_047301411.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X18

  24. XM_047445459.1 → XP_047301415.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X14

  25. XM_047445438.1 → XP_047301394.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X5

  26. XM_047445437.1 → XP_047301393.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X4

  27. XM_047445441.1 → XP_047301397.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X5

  28. XM_047445440.1 → XP_047301396.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X5

  29. XM_047445442.1 → XP_047301398.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X5

  30. XM_047445451.1 → XP_047301407.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X14

  31. XM_047445443.1 → XP_047301399.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X7

  32. XM_047445447.1 → XP_047301403.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X11

  33. XM_047445449.1 → XP_047301405.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X13

  34. XM_047445444.1 → XP_047301400.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X8

  35. XM_047445435.1 → XP_047301391.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X2

RNA

  1. XR_008487932.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKM7.2 GenPept UniProtKB/Swiss-Prot:Q9UKM7

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