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MAN2A1 mannosidase alpha class 2A member 1 [ Homo sapiens (human) ]

Gene ID: 4124, updated on 13-Mar-2020

Summary

Official Symbol
MAN2A1provided by HGNC
Official Full Name
mannosidase alpha class 2A member 1provided by HGNC
Primary source
HGNC:HGNC:6824
See related
Ensembl:ENSG00000112893 MIM:154582
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
MANA2; MANII; GOLIM7; AMan II
Summary
This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
Expression
Ubiquitous expression in duodenum (RPKM 14.9), colon (RPKM 14.2) and 25 other tissues See more
Orthologs

Genomic context

See MAN2A1 in Genome Data Viewer
Location:
5q21.3
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (109689366..109869625)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (109025156..109203429)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene keratin 18 pseudogene 42 Neighboring gene uncharacterized LOC105379118 Neighboring gene RN7SK pseudogene 230 Neighboring gene cancer/testis antigen family 45 member B1, pseudogene Neighboring gene long intergenic non-protein coding RNA 1848 Neighboring gene uncharacterized LOC105379119 Neighboring gene PGAM family member 5, mitochondrial serine/threonine protein phosphatase pseudogene 1

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?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
NHGRI GWA Catalog

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686N09247

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-mannosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity, hydrolyzing N-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
 
mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
mannose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
protein deglycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
respiratory gaseous exchange IEA
Inferred from Electronic Annotation
more info
 
retina morphogenesis in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
vacuole organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi medial cisterna IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
cis-Golgi network IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
alpha-mannosidase 2
Names
Golgi alpha-mannosidase II
golgi integral membrane protein 7
mannosidase, alpha type II
mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase
NP_002363.2
XP_011541697.1
XP_016864961.1
XP_024301816.1

NCBI Reference Sequences (RefSeq)

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_002372.3NP_002363.2  alpha-mannosidase 2

    See identical proteins and their annotated locations for NP_002363.2

    Status: REVIEWED

    Source sequence(s)
    AC011366, AC012603, AL833486, BC111062, D63998, U31520
    Consensus CDS
    CCDS34209.1
    UniProtKB/Swiss-Prot
    Q16706
    Related
    ENSP00000261483.4, ENST00000261483.4
    Conserved Domains (4) summary
    PLN02701
    Location:1281144
    PLN02701; alpha-mannosidase
    cd11666
    Location:165508
    GH38N_Man2A1; N-terminal catalytic domain of Golgi alpha-mannosidase II and similar proteins; glycoside hydrolase family 38 (GH38)
    smart00872
    Location:503588
    Alpha-mann_mid; Alpha mannosidase, middle domain
    pfam07748
    Location:7541139
    Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    109689366..109869625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446048.1XP_024301816.1  alpha-mannosidase 2 isoform X2

    Conserved Domains (1) summary
    PLN02701
    Location:1946
    PLN02701; alpha-mannosidase
  2. XM_011543395.3XP_011541697.1  alpha-mannosidase 2 isoform X3

    Conserved Domains (3) summary
    cd11666
    Location:165508
    GH38N_Man2A1; N-terminal catalytic domain of Golgi alpha-mannosidase II and similar proteins; glycoside hydrolase family 38 (GH38)
    smart00872
    Location:503588
    Alpha-mann_mid; Alpha mannosidase, middle domain
    cl20343
    Location:754853
    Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
  3. XM_017009472.1XP_016864961.1  alpha-mannosidase 2 isoform X1

    Conserved Domains (4) summary
    PLN02701
    Location:791095
    PLN02701; alpha-mannosidase
    cd11666
    Location:116459
    GH38N_Man2A1; N-terminal catalytic domain of Golgi alpha-mannosidase II and similar proteins; glycoside hydrolase family 38 (GH38)
    smart00872
    Location:454539
    Alpha-mann_mid; Alpha mannosidase, middle domain
    pfam07748
    Location:7051090
    Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain

RNA

  1. XR_001742067.2 RNA Sequence

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