MAN1A1 mannosidase alpha class 1A member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAN1A1provided by HGNC
Official Full Name: mannosidase alpha class 1A member 1provided by HGNC
Primary source: HGNC:HGNC:6821
See related: Ensembl:ENSG00000111885 MIM:604344; AllianceGenome:HGNC:6821
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: MAN9; HUMM3; HUMM9
Summary: This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]
Expression: Ubiquitous expression in fat (RPKM 62.7), liver (RPKM 46.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.31

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (119177205..119350605, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (120363405..120543535, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (119498370..119670926, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of a Novel MAN1A1-ROS1 Fusion Gene Through mRNA-based Screening for Tyrosine Kinase Gene Aberrations in a Patient with Leiomyosarcoma.
Title: Identification of a Novel MAN1A1-ROS1 Fusion Gene Through mRNA-based Screening for Tyrosine Kinase Gene Aberrations in a Patient with Leiomyosarcoma.
Markers of malignant prostate cancer cells: Golgi localization of alpha-mannosidase 1A at GM130-GRASP65 site and appearance of high mannose N-glycans on cell surface.
Title: Markers of malignant prostate cancer cells: Golgi localization of α-mannosidase 1A at GM130-GRASP65 site and appearance of high mannose N-glycans on cell surface.
These results show an oncogenic role of the Golgi mannosidase MAN1A1 in ovarian cancer, where MAN1A1 expression levels significantly affects recurrence-free and overall survival . Mannosidase-mediated N-glycosylation has a strong impact on tumour cell aggregation and affects the prognostic impact of the adhesion molecule ALCAM.
Title: Prognostic relevance of the Golgi mannosidase MAN1A1 in ovarian cancer: impact of N-glycosylation on tumour cell aggregation.
In situ proximity ligation assays of Golgi localization of alpha-mannosidase IA at giantin versus GM130-GRASP65 site, and absence or presence of N-glycans terminated with alpha3-mannose on trans-Golgi glycosyltransferases may be useful for distinguishing indolent from aggressive prostate cancer cells
Title: Shifted Golgi targeting of glycosyltransferases and α-mannosidase IA from giantin to GM130-GRASP65 results in formation of high mannose N-glycans in aggressive prostate cancer cells.
We observed significant lower values of GAL, FUC and tendency to decrease of alpha-mannosidase and GLU concentration in nasal polyps
Title: Lysosomal exoglycosidases in nasal polyps.
Complex N-glycans generated by enzymes such as a-mannosidase I inhibit the activation of naive T cells.
Title: Differential expression and function of α-mannosidase I in stimulated naive and memory CD4+ T cells.
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.
ERManI, by functioning as a downstream effector target of EDEM1, represents a checkpoint activation paradigm by which the mammalian unfolded protein response coordinates the boosting of endoplasmic reticulum (ER)-associated degradation.
Title: The mammalian UPR boosts glycoprotein ERAD by suppressing the proteolytic downregulation of ER mannosidase I.
following HIV infection, there is an increased rate of catabolism of glycoconjugates in saliva resulting from changes in the proportions of the activity of isoenzymes A and B of N-acetyl-beta-hexosaminidase, beta-galactosidase and alpha-fucosidase
Title: Activity of lysosomal exoglycosidases in saliva of patients with HIV infection.
overexpression of Golgi alpha1,2-mannosidase IA, IB, and IC also accelerates ERAD of terminally misfolded human alpha1-antitrypsin variant null (Hong Kong) (NHK), and mannose trimming from the N-glycans on NHK in 293 cells
Title: Stimulation of ERAD of misfolded null Hong Kong alpha1-antitrypsin by Golgi alpha1,2-mannosidases.

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of mannosidase, alpha, class 1A, member 1 (MAN1A1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S287 (e-PCR), detects polymorphism
- UniSTS:48905

STS-X74837 (e-PCR)
- UniSTS:5918

SHGC-82286 (e-PCR)
- UniSTS:104229

Man1a (e-PCR), detects polymorphism
- UniSTS:527408

D6S287 (e-PCR), detects polymorphism
- UniSTS:17990

SHGC-145161 (e-PCR)
- UniSTS:174424

Man1a (e-PCR), detects polymorphism
- UniSTS:499067

D6S287 (e-PCR), detects polymorphism
- UniSTS:20610

D6S1696 (e-PCR)
- UniSTS:50066

WI-7313 (e-PCR)
- UniSTS:6549

RH68575 (e-PCR)
- UniSTS:45725

RH68722 (e-PCR)
- UniSTS:60338

RH46080 (e-PCR)
- UniSTS:50615

RH37584 (e-PCR)
- UniSTS:65730

RH92665 (e-PCR)
- UniSTS:87746

G60180 (e-PCR)
- UniSTS:137439

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables mannosidase activity	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	IMP Inferred from Mutant Phenotype more info	PubMed
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in carbohydrate metabolic process	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 mannose trimming involved in glycoprotein ERAD pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
involved_in protein targeting to ER	IMP Inferred from Mutant Phenotype more info	PubMed

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
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: mannosyl-oligosaccharide 1,2-alpha-mannosidase IA

Names: Man9-mannosidase; alpha-1,2-mannosidase IA; man(9)-alpha-mannosidase; processing alpha-1,2-mannosidase IA

NP_005898.2

EC 3.2.1.113

XP_005267043.1

EC 3.2.1.113

XP_011534135.1

EC 3.2.1.113

XP_047274731.1

EC 3.2.1.113

XP_054211415.1

EC 3.2.1.113

XP_054211416.1

EC 3.2.1.113

XP_054211417.1

EC 3.2.1.113

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)

NM_005907.4 → NP_005898.2 mannosyl-oligosaccharide 1,2-alpha-mannosidase IA

See identical proteins and their annotated locations for NP_005898.2

Status: REVIEWED

Source sequence(s)

AK025599, AL022722, BQ008013

Consensus CDS

CCDS5122.1

UniProtKB/Swiss-Prot

E7EU32, P33908, Q6P052, Q9NU44, Q9UJI3

Related

ENSP00000357453.3, ENST00000368468.4

Conserved Domains (1) summary

pfam01532
Location:202 → 640

Glyco_hydro_47; Glycosyl hydrolase family 47

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

119177205..119350605 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005266986.5 → XP_005267043.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IA isoform X1

Conserved Domains (1) summary

pfam01532
Location:285 → 723

Glyco_hydro_47; Glycosyl hydrolase family 47
XM_011535833.3 → XP_011534135.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IA isoform X2

Conserved Domains (1) summary

pfam01532
Location:13 → 451

Glyco_hydro_47; Glycosyl hydrolase family 47
XM_047418775.1 → XP_047274731.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IA isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

120363405..120543535 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355440.1 → XP_054211415.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IA isoform X1
XM_054355441.1 → XP_054211416.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IA isoform X2
XM_054355442.1 → XP_054211417.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IA isoform X3