MAN1C1 mannosidase alpha class 1C member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAN1C1provided by HGNC
Official Full Name: mannosidase alpha class 1C member 1provided by HGNC
Primary source: HGNC:HGNC:19080
See related: Ensembl:ENSG00000117643 MIM:616772; AllianceGenome:HGNC:19080
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: HMIC; MAN1C; MAN1A3; pp6318
Summary: Predicted to enable mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Predicted to be involved in ERAD pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney (RPKM 10.6), thyroid (RPKM 9.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (25616791..25784450)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (25454132..25621930)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (25943282..26110941)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Elevated alpha-1,2-mannosidase MAN1C1 in glioma stem cells and its implications for immunological changes and prognosis in glioma patients.
Title: Elevated α-1,2-mannosidase MAN1C1 in glioma stem cells and its implications for immunological changes and prognosis in glioma patients.
Golgi alpha1,2-mannosidase I induces clustering and compartmentalization of CD147 during epithelial cell migration.
Title: Golgi α1,2-mannosidase I induces clustering and compartmentalization of CD147 during epithelial cell migration.
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.
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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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

SHGC-74415 (e-PCR)
- UniSTS:37125

WI-14148 (e-PCR)
- UniSTS:44295

MAN1C1 (e-PCR)
- UniSTS:503305

D8S2279 (e-PCR)
- UniSTS:473907

RH36069 (e-PCR)
- UniSTS:11072

A005U19 (e-PCR)
- UniSTS:13901

SHGC-105318 (e-PCR)
- UniSTS:169297

D15S1477 (e-PCR)
- UniSTS:474482

G35510 (e-PCR)
- UniSTS:44150

D1S1427 (e-PCR)
- UniSTS:149623

D1S1468 (e-PCR)
- UniSTS:149664

SHGC-37693 (e-PCR)
- UniSTS:60330

RH36124 (e-PCR)
- UniSTS:45292

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	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	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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 carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein N-linked glycosylation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	TAS Traceable Author Statement more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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

Names: 1,2-alpha-mannosidase IC; processing alpha-1,2-mannosidase IC

NP_001275939.1

EC 3.2.1.113

NP_001372111.1

EC 3.2.1.113

NP_001372112.1

EC 3.2.1.113

NP_001372113.1

EC 3.2.1.113

NP_001372114.1

EC 3.2.1.113

NP_065112.1

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_001289010.2 → NP_001275939.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IC isoform 2

Status: VALIDATED

Source sequence(s)

AL020996, AL031280

UniProtKB/TrEMBL

Q59G34

Conserved Domains (1) summary

pfam01532
Location:181 → 589

Glyco_hydro_47; Glycosyl hydrolase family 47
NM_001385182.1 → NP_001372111.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IC isoform 3

Status: VALIDATED

Source sequence(s)

AL020996, AL031280

Conserved Domains (1) summary

pfam01532
Location:181 → 651

Glyco_hydro_47; Glycosyl hydrolase family 47
NM_001385183.1 → NP_001372112.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IC isoform 4

Status: VALIDATED

Source sequence(s)

AL020996, AL031280

Conserved Domains (1) summary

pfam01532
Location:181 → 641

Glyco_hydro_47; Glycosyl hydrolase family 47
NM_001385184.1 → NP_001372113.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IC isoform 5

Status: VALIDATED

Source sequence(s)

AL020996, AL031280

Conserved Domains (1) summary

pfam01532
Location:214 → 449

Glyco_hydro_47; Glycosyl hydrolase family 47
NM_001385185.1 → NP_001372114.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IC isoform 6

Status: VALIDATED

Source sequence(s)

AL020996, AL031280

Consensus CDS

CCDS90887.1

UniProtKB/TrEMBL

A6NGN6, B1AJZ5

Related

ENSP00000363449.1, ENST00000374329.1

Conserved Domains (1) summary

pfam01532
Location:1 → 388

Glyco_hydro_47; Glycosyl hydrolase family 47
NM_020379.4 → NP_065112.1 mannosyl-oligosaccharide 1,2-alpha-mannosidase IC isoform 1

See identical proteins and their annotated locations for NP_065112.1

Status: VALIDATED

Source sequence(s)

AL020996, AL031280

Consensus CDS

CCDS265.1

UniProtKB/Swiss-Prot

A6NNE2, B2RNP2, Q9NR34, Q9Y545

Related

ENSP00000363452.4, ENST00000374332.9

Conserved Domains (1) summary

pfam01532
Location:181 → 617

Glyco_hydro_47; Glycosyl hydrolase family 47