MANEA mannosidase endo-alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: MANEAprovided by HGNC
Official Full Name: mannosidase endo-alphaprovided by HGNC
Primary source: HGNC:HGNC:21072
See related: Ensembl:ENSG00000172469 MIM:612327; AllianceGenome:HGNC:21072
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: ENDO; hEndo
Summary: N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]
Expression: Ubiquitous expression in urinary bladder (RPKM 7.3), thyroid (RPKM 6.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q16.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (95577535..95609452)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (96748485..96780392)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (96025411..96057328)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MANEA plays a role in anxiety disorders.
Title: The α-endomannosidase gene (MANEA) is associated with panic disorder and social anxiety disorder.
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.
Association of variants in MANEA with cocaine related behavior is established.
Title: Association of variants in MANEA with cocaine-related behaviors.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Association of variants in MANEA with cocaine-related behaviors.
Observational study of gene-disease association. (HuGE Navigator)
Title: Substance dependence low-density whole genome association study in two distinct American populations.
We have cloned two novel endomannosidase sequences from rat and human cDNA libraries [and] confirm that endomannosidase is a type II membrane protein, like the majority of other secretory pathway glycosylation enzymes
Title: Intact {alpha}-1,2-endomannosidase is a typical type II membrane protein.

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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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Protein interactions

Protein	Gene	Interaction	Pubs
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	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	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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-mannosidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycoprotein endo-alpha-1,2-mannosidase activity	IDA Inferred from Direct Assay more info	PubMed
enables glycoprotein endo-alpha-1,2-mannosidase activity	TAS Traceable Author Statement 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
is_active_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: glycoprotein endo-alpha-1,2-mannosidase

Names: alpha 1,2-endomannosidase; endo-alpha mannosidase; endomannosidase; mandaselin

NP_078917.2

EC 3.2.1.130

XP_005267204.1

EC 3.2.1.130

XP_054212417.1

EC 3.2.1.130

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.