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    MAN1A2 mannosidase alpha class 1A member 2 [ Homo sapiens (human) ]

    Gene ID: 10905, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MAN1A2provided by HGNC
    Official Full Name
    mannosidase alpha class 1A member 2provided by HGNC
    Primary source
    HGNC:HGNC:6822
    See related
    Ensembl:ENSG00000198162 MIM:604345; AllianceGenome:HGNC:6822
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAN1B
    Summary
    Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.5), placenta (RPKM 7.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAN1A2 in Genome Data Viewer
    Location:
    1p12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (117367449..117528872)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (117376496..117538299)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (117910071..118071494)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:117689065-117690264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:117714175-117714737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:117714738-117715299 Neighboring gene V-set domain containing T cell activation inhibitor 1 Neighboring gene Sharpr-MPRA regulatory region 504 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:117811525-117812043 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:117842461-117842998 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:117842999-117843536 Neighboring gene long intergenic non-protein coding RNA 1525 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:117900419-117901060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:117918162-117918686 Neighboring gene MPRA-validated peak388 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1241 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:118105543-118105787 Neighboring gene VPS25 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:118147484-118147984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:118147985-118148485 Neighboring gene TENT5C divergent transcript

    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. Circular RNA circMAN1A2 promotes ovarian cancer progression through the microRNA-135a-3p/IL1RAP/TAK1 pathway. Li B, et al. PeerJ, 2024. PMID 38680890, Free PMC Article
    2. Molecular cloning, chromosomal mapping and tissue-specific expression of a novel human alpha1,2-mannosidase gene involved in N-glycan maturation. Tremblay LO, et al. Glycobiology, 1998 Jun. PMID 9592125
    3. Characterization of a cDNA encoding a novel human Golgi alpha 1, 2-mannosidase (IC) involved in N-glycan biosynthesis. Tremblay LO, et al. J Biol Chem, 2000 Oct 13. PMID 10915796
    4. Hsa_circ_0000119 promoted ovarian cancer development via enhancing the methylation of CDH13 by sponging miR-142-5p. Ma G, et al. J Biochem Mol Toxicol, 2023 Mar. PMID 36482494
    5. Screening for replication of genome-wide SNP associations in sporadic ALS. Cronin S, et al. Eur J Hum Genet, 2009 Feb. PMID 18987618, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA circMAN1A2 promotes ovarian cancer progression through the microRNA-135a-3p/IL1RAP/TAK1 pathway.
      Title: Circular RNA circMAN1A2 promotes ovarian cancer progression through the microRNA-135a-3p/IL1RAP/TAK1 pathway.
    2. Hsa_circ_0000119 promoted ovarian cancer development via enhancing the methylation of CDH13 by sponging miR-142-5p.
      Title: Hsa_circ_0000119 promoted ovarian cancer development via enhancing the methylation of CDH13 by sponging miR-142-5p.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Screening for replication of genome-wide SNP associations in sporadic ALS.
    Submit: New GeneRIF Correction

    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

    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 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi apparatus mannose trimming TAS
    Traceable Author Statement
    more info
    		  
    involved_in N-glycan processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    mannosyl-oligosaccharide 1,2-alpha-mannosidase IB
    Names
    alpha-1,2-mannosidase IB
    alpha1,2-mannosidase
    processing alpha-1,2-mannosidase IB
    NP_006690.1
    XP_006710365.1
    XP_011538838.1
    XP_016855604.1
    XP_054189926.1
    XP_054189927.1
    XP_054189928.1

    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.

    mRNA and Protein(s)

    1. NM_006699.5 → NP_006690.1  mannosyl-oligosaccharide 1,2-alpha-mannosidase IB

      See identical proteins and their annotated locations for NP_006690.1

      Status: VALIDATED

      Source sequence(s)
      AL157902, AL358072, BC063300, CA449591
      Consensus CDS
      CCDS895.1
      UniProtKB/Swiss-Prot
      O60476, Q9H510
      Related
      ENSP00000348959.3, ENST00000356554.7
      Conserved Domains (2) summary
      pfam01532
      Location:187 → 626
      Glyco_hydro_47; Glycosyl hydrolase family 47
      cl21478
      Location:116 → 194
      ATP-synt_B; ATP synthase B/B' CF(0)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      117367449..117528872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710302.4 → XP_006710365.1  mannosyl-oligosaccharide 1,2-alpha-mannosidase IB isoform X1

      See identical proteins and their annotated locations for XP_006710365.1

      Conserved Domains (2) summary
      pfam01532
      Location:187 → 626
      Glyco_hydro_47; Glycosyl hydrolase family 47
      cl21478
      Location:116 → 194
      ATP-synt_B; ATP synthase B/B' CF(0)

    2. XM_011540536.4 → XP_011538838.1  mannosyl-oligosaccharide 1,2-alpha-mannosidase IB isoform X2

      Conserved Domains (2) summary
      pfam01532
      Location:187 → 597
      Glyco_hydro_47; Glycosyl hydrolase family 47
      cl21478
      Location:116 → 194
      ATP-synt_B; ATP synthase B/B' CF(0)

    3. XM_017000115.2 → XP_016855604.1  mannosyl-oligosaccharide 1,2-alpha-mannosidase IB isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      117376496..117538299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333951.1 → XP_054189926.1  mannosyl-oligosaccharide 1,2-alpha-mannosidase IB isoform X1

    2. XM_054333952.1 → XP_054189927.1  mannosyl-oligosaccharide 1,2-alpha-mannosidase IB isoform X2

    3. XM_054333953.1 → XP_054189928.1  mannosyl-oligosaccharide 1,2-alpha-mannosidase IB isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60476.1 GenPept UniProtKB/Swiss-Prot:O60476

    Gene LinkOut

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