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

    Gene ID: 11253, updated on 3-Nov-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
    mouse all
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    Genomic context

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    See MAN1B1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137086985..137109183)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149322873..149347137)
    RS_2024_09 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 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. 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
    2. Enhancement of endoplasmic reticulum (ER) degradation of misfolded Null Hong Kong alpha1-antitrypsin by human ER mannosidase I. Hosokawa N, et al. J Biol Chem, 2003 Jul 11. PMID 12736254
    3. Endoplasmic reticulum-associated degradation of mammalian glycoproteins involves sugar chain trimming to Man6-5GlcNAc2. Frenkel Z, et al. J Biol Chem, 2003 Sep 5. PMID 12829701
    4. Mechanism of class 1 (glycosylhydrolase family 47) {alpha}-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control. Karaveg K, et al. J Biol Chem, 2005 Apr 22. PMID 15713668
    5. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. Balasubramanian M, et al. Eur J Med Genet, 2019 Feb. PMID 29908352

    See all (103) 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 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_2024_08

    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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