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

Gene ID: 10905, updated on 5-Mar-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
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Genomic context

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Location:
1p12
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (117367449..117528872)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (117376496..117538299)
105.20220307 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
  • 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. 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
  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. 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
  4. 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
  5. Infectivities of human and other primate lentiviruses are activated by desialylation of the virion surface. Hu H, et al. J Virol, 1996 Nov. PMID 8892864, Free PMC Article

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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 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 mannose trimming involved in glycoprotein ERAD pathway IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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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