MAN1B1 Gene
protein-coding GIFtS: 65
GCID: GC09P139981
|
|
mannosidase, alpha, class 1B, member 1
| |
Aliases
for MAN1B1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mannosidase, Alpha, Class 1B, Member 11 2 | | Man9GlcNAc2-Specific Processing Alpha-Mannosidase2 | | MANA-ER1 2 | | EC 3.2.1.1133 | | ERMAN12 | | ERMan13 | | MRT152 | | ER Alpha-1,2-Mannosidase3 | | Endoplasmic Reticulum Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase2 | | ER Mannosidase 13 | | Endoplasmic Reticulum Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase 12 | | Man9GlcNAc2-Specific-Processing Alpha-Mannosidase3 | | ER Alpha 1,2-Mannosidase2 | | Mannosidase Alpha Class 1B Member 13 |
Export aliases for MAN1B1 gene to outside databasesPrevious GC identifers: GC09U990101 GC09P131671 GC09P133422 GC09P135338 GC09P137257 GC09P139101 GC09P109441 |
Summaries
for MAN1B1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MAN1B1:
This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycanbiosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. Itis required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway.Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multipletranscript variants. A related pseudogene has been identified on chromosome 11. (provided by RefSeq, Dec 2011)
UniProtKB/Swiss-Prot: MA1B1_HUMAN, Q9UKM7Function: Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarilytrims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzymeconcentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates toMan(5-6)GlcNAc(2)
 summary
for MAN1B1: Mannosidases are divided into two subtypes; I and II, (EC numbers 3.2.1.113 and 3.2.1.114 respectively)
which display a wide expression pattern. Mannosidase I hydrolyzes (1,2)-linked alpha-D-mannose residues in
the oligo-mannose oligosaccharide Man9(GlcNAc)2 and mannosidase II hydrolyzes (1,3)- and (1,6)-linked
alpha-D-mannose residues in Man5(GlcNAc)3. Both subtypes require a divalent cation cofactor. Mutations in
mannosidases can cause mannosidosis (mannosidase I deficiency).
Gene Wiki entry for MAN1B1
|
Genomic Views
for MAN1B1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_024000.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MAN1B1 gene promoter:
HOXA9B HOXA9 AhR Pax-5 Meis-1b Arnt HSF2 Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for MAN1B1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAN1B1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q34 Ensembl cytogenetic band: 9q34.3 HGNC cytogenetic band: 9q34.3MAN1B1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P139981: view genomic region
(about GC identifiers)
Start:
|
139,981,379 bp from pter |
End:
|
140,003,639 bp from pter |
Size:
|
22,261 bases |
Orientation:
|
plus strand |
|
Proteins
for MAN1B1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MA1B1_HUMAN, Q9UKM7 (See
protein sequence)Recommended Name: Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase Size: 699 amino acids; 79580 Da
Cofactor: Calcium
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein
Caution: It is uncertain whether Met-1 or Met-37 is the initiator
4 PDB 3D structures from  and Proteopedia  for MAN1B1:1FMI (3D)
1FO2 (3D)
1FO3 (3D)
1X9D (3D)
Secondary accessions: Q5VSG3 Q9BRS9 Q9Y5K7Explore the universe of human proteins at neXtProt for MAN1B1: NX_Q9UKM7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UKM7
MAN1B1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_057303.2
ENSEMBL proteins: ENSP00000360645 ENSP00000444966 ENSP00000441398 ENSP00000440314 ENSP00000443377 ENSP00000444189 ENSP00000440616 ENSP00000447256 ENSP00000448658 ENSP00000450147 Reactome Protein details: Q9UKM7
Human Recombinant Protein Products for MAN1B1:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
MAN1B1 for ontologies About GeneDecksing
MAN1B1 Antibody Products:
Assay Products for MAN1B1: |
Protein
Domains /
Families
for MAN1B1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MAN1B1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9UKM7ProtoNet protein and cluster: Q9UKM7 1 Blocks protein family: IPB001382 Glycosyl hydrolase family 47 signature
UniProtKB/Swiss-Prot: MA1B1_HUMAN, Q9UKM7Similarity: Belongs to the glycosyl hydrolase 47 family |
Function
for MAN1B1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: MA1B1_HUMAN, Q9UKM7Function: Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarilytrims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzymeconcentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates toMan(5-6)GlcNAc(2)Catalytic activity: Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannoseoligosaccharide Man(9)(GlcNAc)(2)Enzyme regulation: Inhibited by both 1-deoxymannojirimycin (dMNJ) and kifunensineBiophysicochemical properties: Kinetic parameters: KM=0.4 mM for Man9GlcNAc2; pH dependence: Optimum pH is between 6.5and 6.9; Enzyme Number (IUBMB): EC 3.2.1.1131
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
MAN1B1 for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for MAN1B1:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAN1B1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MAN1B1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MAN1B1 (NM_016219) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MAN1B1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAN1B1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN1B1 |
|
Pathways & Interactions
for MAN1B1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Asparagine N-linked glycosylation | | | 2 | Calnexin/calreticulin cycle | | | 3 | Protein processing in endoplasmic reticulum | | | 4 | Metabolism | | | 5 | Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  GeneGo (Thomson Reuters) Pathway for MAN1B1
5/6 
Reactome Pathways for MAN1B1 (see all 6)
3 
Kegg Pathways (Kegg details for MAN1B1):
UniProtKB/Swiss-Prot: MA1B1_HUMAN, Q9UKM7Pathway: Protein modification; protein glycosylation
MAN1B1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAN1B1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 8)
5/19 Interacting proteins for MAN1B1 (Q9UKM72, 3 ENSP000003606454) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
MAN1B1 for ontologies About GeneDecksing
|
Drugs & Compounds
for MAN1B1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Compounds for MAN1B1 available from Tocris Bioscience About this table
3 HMDB Compounds for MAN1B1 About this table
5 DrugBank Compounds for MAN1B1 About this table
Search CenterWatch for drugs/clinical trials and news about MAN1B1 / MA1B1
|
Transcripts
for MAN1B1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MAN1B1 gene: NM_016219.4 Unigene Cluster for MAN1B1: Mannosidase, alpha, class 1B, member 1 Hs.279881 [show with all ESTs]Unigene Representative Sequence: NR_04572117 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000371589(uc011meo.1 uc011mep.2 uc004cld.2 uc010ncc.2)
ENST00000544448 ENST00000535144 ENST00000545539 ENST00000371587(uc004clc.2)
ENST00000538003 ENST00000542372 ENST00000545096 ENST00000540346 ENST00000474902
ENST00000536349 ENST00000540391(uc004clf.1) ENST00000535028 ENST00000480100
ENST00000536268 ENST00000475449 ENST00000550113
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAN1B1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MAN1B1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MAN1B1 (NM_016219) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MAN1B1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAN1B1 |
Additional cDNA sequence: AF145732.1 AF148509.1 AK074559.1 AK074699.1 AK130143.1 AK298480.1 AK309808.1 AK315797.1 AY358465.1 BC002953.1 BC006079.1 NR_045720.1 NR_045721.1 21 DOTS entries: DT.114957 DT.91698922 DT.91965231 DT.100790680 DT.101985319 DT.75157921 DT.101985320 DT.40217466 DT.100790683 DT.100790686 DT.92000822 DT.92038235 DT.95279716 DT.95279724 DT.100790687 DT.95151625 DT.95279714 DT.95279725 DT.95279730 DT.97864225 DT.99944052 24/317 AceView cDNA sequences (see all 317): BE389207 AI613099 AI674849 AI745062 T12605 BQ706831 BX094536 BE391009 AI608918 AA948154 AI811801 BQ218308 BE302322 BM712004 AK128257 AW166519 BU182640 AK128341 NM_016219 BU538366 BC006079 CA943877 AI365502 AA603464
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for MAN1B1 (see all 11) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · |
|---|
|
| SP1: | | | - | | - | | | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | - | | | | | | | | | | | | |
| SP3: | | | - | | - | | | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | - | | | | | | | | | | | |
| ExUns: | 15b | ^ | 16a | · | 16b | · | 16c |
|---|
|
| SP1: | - | | | | | | | | |
| SP2: | - | | | | | | | | |
| SP3: | | | | | | | | | |
| SP4: | - | | | | | | | | |
| SP5: | | | | | | | | |
ECgene alternative splicing isoforms for MAN1B1
|
Expression
for MAN1B1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MAN1B1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTCACGATT
About this image
See MAN1B1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MAN1B1
SOURCE GeneReport for Unigene cluster: Hs.279881
UniProtKB/Swiss-Prot: MA1B1_HUMAN, Q9UKM7Tissue specificity: Widely expressed
SABiosciences Expression via Pathway-Focused PCR Array including MAN1B1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MAN1B1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MAN1B1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAN1B1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAN1B1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN1B1 |
Orthologs
for MAN1B1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MAN1B1 gene from 8/27 species (see all 27) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
MAN1B11 |
mannosidase, alpha, class 1B, member 1 |
69.39(n)
71.41(a) |
|
417296 XM_415569.3 XP_415569.3 |
lizard
(Anolis carolinensis) |
Reptilia |
MAN1B16 |
-- |
77(a) |
1 ↔ 1 |
GL344151.1(3111-19733) |
zebrafish
(Danio rerio) |
Actinopterygii |
BM103988.12 |
-- |
79.72(n) |
|
BM103988.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG118741 , 3 |
mannosyl-oligosaccharide
1,2-alpha-mannosidase3
CG118741 |
43(a)3
53.45(n)1
46.76(a)1 |
|
98F103
434361 NM_143410.31 NP_651667.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
T03G11.41 , 3 |
man(9)-alpha-mannosidase3
Protein T03G11.41 |
52(a)
(best of 2)3
55.01(n)1
53.14(a)1 |
|
X(5200690-5203793)3
1807871 NM_076476.31 NP_508877.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
MNS1(YJR131W)4
MNS11 |
Alpha-1,2-mannosidase involved in ER quality control; more4
Mns1p1 |
50.08(n)1
44.21(a)1 |
|
10(667644-669293)4
8535951, 4 NP_012665.31 NP_012665.14 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
MNS31 |
mannosyl-oligosaccharide 1,2-alpha-mannosidase MNS3 |
53.39(n)
53.62(a) |
|
839879 NM_102740.2 NP_564345.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.213432 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
74.71(n) |
|
AK069043.1 |
ENSEMBL Gene Tree for MAN1B1 (if available)
TreeFam Gene Tree for MAN1B1 (if available) |
Paralogs
for MAN1B1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MAN1B1 gene
- MAN1C12 MAN1A12 MAN1A22
9 SIMAP similar genes for MAN1B1 using alignment to 10 protein entries: MA1B1_HUMAN (see all proteins):DKFZp686C04126 DKFZp434I213 pp6318 MAN1C1 MAN1A2 MAN1A1
EDEM3 EDEM1 EDEM2
MAN1B1 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for MAN1B1
PGOHUM00000242215 PGOHUM00000260490
|
Genomic Variants
for MAN1B1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MAN1B1 (139981379 - 140003639 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for MAN1B1
7 CNVs: 4663 62962 23895 96353 83234 5415 70841
1 Indel: 13217
Human Gene Mutation Database (HGMD): MAN1B1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAN1B1 |
|
Disorders
/ Diseases
for MAN1B1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MAN1B1 for disorders About GeneDecksing
OMIM gene information: 604346
OMIM disorders: --
UniProtKB/Swiss-Prot: MA1B1_HUMAN, Q9UKM7
Defects in MAN1B1 are the cause of mental retardation autosomal recessive type 15 (MRT15) [MIM:614202]. Mentalretardation is characterized by significantly below average general intellectual functioning associated withimpairments in adaptative behavior and manifested during the developmental period
13  diseases for MAN1B1: About MalaCardsintellectual disability mannosidosis alpha 1-antitrypsin deficiency metachromatic leukodystrophy
congenital dyserythropoietic anemia pelvic inflammatory disease dyserythropoietic anemia congenital disorder of glycosylation
leukodystrophy liver disease peritonitis anemia
immunodeficiency
1 disease from the University of Copenhagen DISEASES database for MAN1B1:Metachromatic leukodystrophy Human Genome Epidemiology (HuGE) Navigator: MAN1B1 (2 documents)
Export disorders for MAN1B1 gene to outside databases
|
Publications
for MAN1B1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MAN1B1 gene, integrated from 9 sources (see all 52):
(articles sorted by number of sources associating them with MAN1B1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and expression of a specific human alpha 1,2-mannosidase that trims Man9GlcNAc2 to Man8GlcNAc2 isomer B during N-glycan biosynthesis. (PubMed id 10521544)1, 2, 3 Tremblay L.O. and Herscovics A. (1999)
- Identification, expression, and characterization of a cDNA encoding human endoplasmic reticulum mannosidase I, the enzyme that catalyzes the first mannose trimming step in mammalian Asn-linked oligosaccharide biosynthesis. (PubMed id 10409699)1, 2, 3 Gonzalez D.S....Moremen K.W. (1999)
- Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal- recessive intellectual disability. (PubMed id 21763484)1, 2 Rafiq M.A....Najmabadi H. (2011)
- Endoplasmic reticulum (ER) mannosidase I is compartmentalized and required for N-glycan trimming to Man5-6GlcNAc2 in glycoprotein ER-associated degradation. (PubMed id 18003979)1, 2 Avezov E....Lederkremer G.Z. (2008)
- Mechanism of class 1 (glycosylhydrolase family 47) {alpha}-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control. (PubMed id 15713668)1, 2 Karaveg K....Moremen K.W. (2005)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
- The specificity of the yeast and human class I ER alpha 1,2- mannosidases involved in ER quality control is not as strict previously reported. (PubMed id 12090241)1, 2 Herscovics A.... Tremblay L.O. (2002)
- Structural basis for catalysis and inhibition of N-glycan processing class I alpha 1,2-mannosidases. (PubMed id 10995765)1, 2 Vallee F.... Howell P.L. (2000)
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External Searches for MAN1B1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing MAN1B1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing MAN1B1 gene
(According to HUGE)
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Specialized Databases showing MAN1B1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for MAN1B1 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for MAN1B1 gene:
Search GeneIP for patents involving MAN1B1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MAN1B1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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| | |  | OriGene Antibodies for MAN1B1 | | OriGene shRNA RFP for MAN1B1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAN1B1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MAN1B1 | | | OriGene Protein Over-expression Lysate for MAN1B1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MAN1B1 | | OriGene 3'-UTR Clone for MAN1B1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MAN1B1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAN1B1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MAN1B1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAN1B1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAN1B1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAN1B1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAN1B1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAN1B1 |
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 | | | MAN1B1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN1B1 |
|  |  |  |  | | | | ThermoFisher Antibodies for MAN1B1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAN1B1 |
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