Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11253
Gene name	Mannosidase alpha class 1B member 1
Gene symbol	MAN1B1
Synonyms (NCBI Gene)	ERMAN1ERManIMANA-ERMRT15
Chromosome	9
Chromosome location	9q34.3
Summary	This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan tri

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs75442795	G>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, benign	Missense variant, non coding transcript variant, coding sequence variant
rs146417316	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs147529965	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs150942110	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs181795958	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	3 prime UTR variant, missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs200410163	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs747045738	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, synonymous variant, 3 prime UTR variant, coding sequence variant
rs794729645	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs797045688	TGAAGGATGGGAC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1164484724	C>T	Likely-pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant, non coding transcript variant, synonymous variant
rs1382373816	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1564278864	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs1564311909	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023765	hsa-miR-1-3p	Proteomics	18668040
MIRT438070	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	23940818
MIRT438070	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	23940818
MIRT1127178	hsa-miR-1289	CLIP-seq
MIRT1127179	hsa-miR-1299	CLIP-seq
MIRT1127180	hsa-miR-187	CLIP-seq
MIRT1127181	hsa-miR-1972	CLIP-seq
MIRT1127182	hsa-miR-2467-5p	CLIP-seq
MIRT1127183	hsa-miR-3180	CLIP-seq
MIRT1127184	hsa-miR-3180-3p	CLIP-seq
MIRT1127185	hsa-miR-3182	CLIP-seq
MIRT1127186	hsa-miR-3196	CLIP-seq
MIRT1127187	hsa-miR-3198	CLIP-seq
MIRT1127188	hsa-miR-3937	CLIP-seq
MIRT1127189	hsa-miR-4294	CLIP-seq
MIRT1127190	hsa-miR-4309	CLIP-seq
MIRT1127191	hsa-miR-4313	CLIP-seq
MIRT1127192	hsa-miR-433	CLIP-seq
MIRT1127193	hsa-miR-4459	CLIP-seq
MIRT1127194	hsa-miR-4650-5p	CLIP-seq
MIRT1127195	hsa-miR-4690-3p	CLIP-seq
MIRT1127196	hsa-miR-4690-5p	CLIP-seq
MIRT1127197	hsa-miR-4706	CLIP-seq
MIRT1127198	hsa-miR-4711-3p	CLIP-seq
MIRT1127199	hsa-miR-4734	CLIP-seq
MIRT1127200	hsa-miR-4738-5p	CLIP-seq
MIRT1127201	hsa-miR-4749-5p	CLIP-seq
MIRT1127202	hsa-miR-4757-5p	CLIP-seq
MIRT1127203	hsa-miR-4782-5p	CLIP-seq
MIRT1127204	hsa-miR-516b	CLIP-seq
MIRT1127205	hsa-miR-658	CLIP-seq
MIRT1127206	hsa-miR-665	CLIP-seq
MIRT1127207	hsa-miR-744	CLIP-seq
MIRT1127208	hsa-miR-765	CLIP-seq
MIRT1127209	hsa-miR-766	CLIP-seq
MIRT2036045	hsa-miR-2355-3p	CLIP-seq
MIRT2036046	hsa-miR-3614-5p	CLIP-seq
MIRT2036047	hsa-miR-3909	CLIP-seq
MIRT1127200	hsa-miR-4738-5p	CLIP-seq
MIRT1127204	hsa-miR-516b	CLIP-seq
MIRT2036048	hsa-miR-676	CLIP-seq
MIRT1127209	hsa-miR-766	CLIP-seq
MIRT2565530	hsa-miR-1250	CLIP-seq
MIRT2565531	hsa-miR-151-5p	CLIP-seq
MIRT2565532	hsa-miR-151b	CLIP-seq
MIRT2036045	hsa-miR-2355-3p	CLIP-seq
MIRT2565533	hsa-miR-296-5p	CLIP-seq
MIRT2565534	hsa-miR-3148	CLIP-seq
MIRT2565535	hsa-miR-3155	CLIP-seq
MIRT2565536	hsa-miR-3155b	CLIP-seq
MIRT2036046	hsa-miR-3614-5p	CLIP-seq
MIRT2036047	hsa-miR-3909	CLIP-seq
MIRT2565537	hsa-miR-3920	CLIP-seq
MIRT2565538	hsa-miR-3978	CLIP-seq
MIRT2565539	hsa-miR-4291	CLIP-seq
MIRT2565540	hsa-miR-4422	CLIP-seq
MIRT2565541	hsa-miR-4640-5p	CLIP-seq
MIRT2565542	hsa-miR-4676-5p	CLIP-seq
MIRT2565543	hsa-miR-4726-5p	CLIP-seq
MIRT2565544	hsa-miR-4730	CLIP-seq
MIRT2565545	hsa-miR-484	CLIP-seq
MIRT2565546	hsa-miR-545	CLIP-seq
MIRT2565547	hsa-miR-575	CLIP-seq
MIRT2565548	hsa-miR-661	CLIP-seq
MIRT2036048	hsa-miR-676	CLIP-seq
MIRT1127208	hsa-miR-765	CLIP-seq
MIRT2565549	hsa-miR-767-3p	CLIP-seq
MIRT2565550	hsa-miR-769-5p	CLIP-seq
MIRT2565531	hsa-miR-151-5p	CLIP-seq
MIRT2565532	hsa-miR-151b	CLIP-seq
MIRT2036045	hsa-miR-2355-3p	CLIP-seq
MIRT2036046	hsa-miR-3614-5p	CLIP-seq
MIRT2036047	hsa-miR-3909	CLIP-seq
MIRT2565537	hsa-miR-3920	CLIP-seq
MIRT2565540	hsa-miR-4422	CLIP-seq
MIRT2565541	hsa-miR-4640-5p	CLIP-seq
MIRT2565542	hsa-miR-4676-5p	CLIP-seq
MIRT2565543	hsa-miR-4726-5p	CLIP-seq
MIRT2565544	hsa-miR-4730	CLIP-seq
MIRT2565547	hsa-miR-575	CLIP-seq
MIRT2565548	hsa-miR-661	CLIP-seq
MIRT2036048	hsa-miR-676	CLIP-seq
MIRT1127208	hsa-miR-765	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IBA
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	10521544, 12090241, 22160784
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP	18003979
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	10409699, 10521544
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	TAS	10521544
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	18003979
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	10409699, 22160784
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	TAS	22160784
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0009311	Process	Oligosaccharide metabolic process	TAS	10409699
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	18003979
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10521544
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019082	Process	Viral protein processing	TAS
GO:0031410	Component	Cytoplasmic vesicle	IDA	25411339
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	IMP	18003979, 21062743
GO:0036508	Process	Protein alpha-1,2-demannosylation	NAS	10521544
GO:0044322	Component	Endoplasmic reticulum quality control compartment	IDA	18003979
GO:0044322	Component	Endoplasmic reticulum quality control compartment	TAS	21062743
GO:0046872	Function	Metal ion binding	IEA
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904380	Process	Endoplasmic reticulum mannose trimming	TAS

MIM	HGNC	e!Ensembl
604346	6823	ENSG00000177239

Q9UKM7

Protein name

Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (EC 3.2.1.113) (ER alpha-1,2-mannosidase) (ER mannosidase 1) (ERMan1) (Man9GlcNAc2-specific-processing alpha-mannosidase) (Mannosidase alpha class 1B member 1)

Protein function

Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as fo

PDB

1FMI , 1FO2 , 1FO3 , 1X9D , 5KIJ , 5KK7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01532	Glyco_hydro_47	256 → 695	Glycosyl hydrolase family 47	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10409699, ECO:0000269|PubMed:10521544}.

Sequence

MAACEGRRSGALGSSQSDFLTPPVGGAPWAVATTVVMYPPPPPPPHRDFISVTLSFGENY
DNSKSWRRRSCWRKWKQLSRLQRNMILFLLAFLLFCGLLFYINLADHWKALAFRLEEEQK
MRPEIAGLKPANPPVLPAPQKADTDPENLPEISSQKTQRHIQRGPPHLQIRPPSQDLKDG
TQEEATKRQEAPVDPRPEGDPQRTVISWRGAVIEPEQGTELPSRRAEVPTKPPLPPARTQ
GTPVHLNYRQKGVIDVFLHAWKGYRKFAWGHDELKPVSRSFSEWFGLGLTLIDALDTMWI
LGLRKEFEEARKWVSKKLHFEKDVDVNLFESTIRILGGLLSAYHLSGDSLFLRKAEDFGN
RLMPAFRTPSKIPYSDVNIGTGVAHPPRWTSDSTVAEVTSIQLEFRELSRLTGDKKFQEA
VEKVTQHIHGLSGKKDGLVPMFINTHSGLFTHLGVFTLGARADSYYEYLLKQWIQGGKQE
TQLLEDYVEAIEGVRTHLLRHSEPSKLTFVGELAHGRFSAKMDHLVCFLPGTLALGVYHG
LPASHMELAQELMETCYQMNRQMETGLSPEIVHFNLYPQPGRRDVEVKPADRHNLLRPET
VESLFYLYRVTGDRKYQDWGWEILQSFSRFTRVPSGGYSSINNVQDPQKPEPRDKMESFF
LGETLKYLFLLFSDDPNLLSLDAYVFNTEAHPLPIWTPA

Sequence length

699

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways Protein processing in endoplasmic reticulum		Defective MAN1B1 causes MRT15 ER Quality Control Compartment (ERQC)

453

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
MAN1B1-congenital disorder of glycosylation	Pathogenic	rs1207589187	RCV001825012
MAN1B1-related disorder	Pathogenic	rs753503405	RCV004735927
Rafiq syndrome	Pathogenic; Likely pathogenic	rs1831100789, rs2130986124, rs1207589187, rs2130983856, rs745337581, rs2538333097, rs2538445870, rs794729645, rs1564281463, rs797045688, rs1830815799, rs1419259096, rs2538317999, rs2538339133, rs1243024601 View all (12 more)	RCV001332117 RCV001390554 RCV003640982 RCV002226993 RCV002463371 RCV002471986 RCV002472011 RCV000185553 RCV002839026 RCV000194566 RCV003009719 RCV003046440 RCV003328077 RCV003641243 RCV003878528 RCV003990268 RCV000023367 RCV000590861 RCV001263235 RCV000988306 RCV001263234 RCV005866817 RCV001263233 RCV001263236 RCV001263238 RCV001263240 RCV001263241
See cases	Likely pathogenic	rs2131131580	RCV002252775

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs115889896	RCV005900524
Adrenocortical carcinoma, hereditary	Benign	rs12000517	RCV005924381
Cervical cancer	Benign	rs115889896	RCV005900525
Clear cell carcinoma of kidney	Benign	rs115889896	RCV005900526
Familial cancer of breast	Benign	rs12115325, rs115889896	RCV005889126 RCV005900523
Hepatocellular carcinoma	Benign	rs12115325	RCV005889127
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	rs114057640, rs538804415, rs1830793247, rs772165357	RCV001252560 RCV001252559 RCV001252558 RCV001252557
Intellectual Disability, Recessive	Uncertain significance; Likely benign; Benign	rs367593587, rs71803786, rs886063729, rs7853336	RCV000299537 RCV000340721 RCV000282694 RCV000341912
Lung cancer	Benign	rs115889896	RCV005900529
Malignant lymphoma, large B-cell, diffuse	Benign	rs12000517, rs12115325	RCV005924382 RCV005889128
Ovarian serous cystadenocarcinoma	Benign	rs115889896	RCV005900528
Sarcoma	Benign	rs115889896	RCV005900527
Uterine corpus endometrial carcinoma	Benign	rs115889896	RCV005900530

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
alpha 1 Antitrypsin Deficiency	Associate	19444872
Blood Coagulation Disorders	Associate	34831340
Brain Diseases	Associate	34831340
Carcinogenesis	Associate	23940818, 36635499
Carcinoma Hepatocellular	Stimulate	23940818
Carcinoma Hepatocellular	Associate	36635499
Cerebral Infarction	Associate	34831340
Congenital Disorder Of Glycosylation Type In	Associate	34831340
Congenital Disorders of Glycosylation	Associate	24348268, 34831340, 36142510
End Stage Liver Disease	Associate	19444872
Epilepsy	Associate	34831340
Facial Dysmorphism with Multiple Malformations	Associate	24348268
Glycogen Storage Disease XIV	Associate	30776362
Obesity	Associate	24348268, 34831340
Psychomotor Disorders	Associate	24348268

MAN1B1 (mannosidase alpha class 1B member 1)