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

    Gene ID: 11253, updated on 1-Mar-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MAN1B1 in Genome Data Viewer
    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

    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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37559

    Gene Ontology Provided by GOA

    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
     

    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_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)

    NEW Try the new Transcript table

    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_016219.5NP_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
      Q5VSG3, Q9BRS9, Q9UKM7, Q9Y5K7
      UniProtKB/TrEMBL
      A0A804HJ66
      Related
      ENSP00000360645.4, ENST00000371589.9
      Conserved Domains (1) summary
      pfam01532
      Location:256695
      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_006716945.5XP_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:256633
      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_054361883.1XP_054217858.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X1

      UniProtKB/TrEMBL
      B4DR05
    2. XM_047445454.1XP_047301410.1  endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase isoform X17

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    RNA

    1. XR_008487932.1 RNA Sequence