Human Gene MAN1B1 (ENST00000371589.9_5) from GENCODE V47lift37
  Description: mannosidase alpha class 1B member 1, transcript variant 2 (from RefSeq NR_045720.2)
Gencode Transcript: ENST00000371589.9_5
Gencode Gene: ENSG00000177239.16_18
Transcript (Including UTRs)
   Position: hg19 chr9:139,981,437-140,003,635 Size: 22,199 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr9:139,981,452-140,003,043 Size: 21,592 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:139,981,437-140,003,635)mRNA (may differ from genome)Protein (699 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MA1B1_HUMAN
DESCRIPTION: RecName: Full=Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase; EC=3.2.1.113; AltName: Full=ER alpha-1,2-mannosidase; AltName: Full=ER mannosidase 1; Short=ERMan1; AltName: Full=Man9GlcNAc2-specific-processing alpha-mannosidase; AltName: Full=Mannosidase alpha class 1B member 1;
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 found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2).
CATALYTIC ACTIVITY: Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2).
COFACTOR: Calcium.
ENZYME REGULATION: Inhibited by both 1-deoxymannojirimycin (dMNJ) and kifunensine.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.4 mM for Man9GlcNAc2; pH dependence: Optimum pH is between 6.5 and 6.9;
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
TISSUE SPECIFICITY: Widely expressed.
DISEASE: Defects in MAN1B1 are the cause of mental retardation autosomal recessive type 15 (MRT15) [MIM:614202]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.
SIMILARITY: Belongs to the glycosyl hydrolase 47 family.
CAUTION: It is uncertain whether Met-1 or Met-37 is the initiator.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAN1B1
Diseases sorted by gene-association score: mental retardation, autosomal recessive 15* (1329), man1b1-cdg* (350), autosomal recessive non-syndromic intellectual disability* (112), congenital disorder of glycosylation, type ii (6), syringomyelia (5), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.71 RPKM in Pituitary
Total median expression: 592.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -276.30592-0.467 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001382 - Glyco_hydro_47

Pfam Domains:
PF01532 - Glycosyl hydrolase family 47

SCOP Domains:
48208 - Six-hairpin glycosidases
48225 - Seven-hairpin glycosidases
48230 - Chondroitin AC/alginate lyase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FMI - X-ray 1FO2 - X-ray MuPIT 1FO3 - X-ray MuPIT 1X9D - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UKM7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity
GO:0005509 calcium ion binding
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0046872 metal ion binding

Biological Process:
GO:0006486 protein glycosylation
GO:0006491 N-glycan processing
GO:0008152 metabolic process
GO:0009311 oligosaccharide metabolic process
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0036508 protein alpha-1,2-demannosylation
GO:0036509 trimming of terminal mannose on B branch
GO:0036510 trimming of terminal mannose on C branch
GO:0036511 trimming of first mannose on A branch
GO:0036512 trimming of second mannose on A branch
GO:1904380 endoplasmic reticulum mannose trimming
GO:1904382 mannose trimming involved in glycoprotein ERAD pathway

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0044322 endoplasmic reticulum quality control compartment
GO:1903561 extracellular vesicle


-  Descriptions from all associated GenBank mRNAs
  KY814484 - Homo sapiens endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (MAN1B1) mRNA, complete cds.
AF148509 - Homo sapiens alpha 1,2-mannosidase mRNA, complete cds.
AY358465 - Homo sapiens clone DNA56529 MAN1B1 (UNQ747) mRNA, complete cds.
AK315797 - Homo sapiens cDNA, FLJ96917.
BC006079 - Homo sapiens mannosidase, alpha, class 1B, member 1, mRNA (cDNA clone MGC:12553 IMAGE:3959196), complete cds.
BC002953 - Homo sapiens mannosidase, alpha, class 1B, member 1, mRNA (cDNA clone MGC:1215 IMAGE:3533651), complete cds.
CU675227 - Synthetic construct Homo sapiens gateway clone IMAGE:100023483 5' read MAN1B1 mRNA.
DQ895050 - Synthetic construct Homo sapiens clone IMAGE:100009510; FLH180682.01L; RZPDo839E11133D mannosidase, alpha, class 1B, member 1 (MAN1B1) gene, encodes complete protein.
KJ898393 - Synthetic construct Homo sapiens clone ccsbBroadEn_07787 MAN1B1 gene, encodes complete protein.
KJ898394 - Synthetic construct Homo sapiens clone ccsbBroadEn_07788 MAN1B1 gene, encodes complete protein.
DQ891861 - Synthetic construct clone IMAGE:100004491; FLH180686.01X; RZPDo839E11134D mannosidase, alpha, class 1B, member 1 (MAN1B1) gene, encodes complete protein.
AF145732 - Homo sapiens endoplasmic reticulum alpha-mannosidase I mRNA, complete cds.
AK299043 - Homo sapiens cDNA FLJ58473 complete cds, highly similar to Endoplasmic reticulummannosyl-oligosaccharide 1,2-alpha-mannosidase (EC 3.2.1.113).
AK309808 - Homo sapiens cDNA, FLJ99849.
AK298480 - Homo sapiens cDNA FLJ60321 complete cds, highly similar to Endoplasmic reticulummannosyl-oligosaccharide 1,2-alpha-mannosidase (EC 3.2.1.113).
CR749534 - Homo sapiens mRNA; cDNA DKFZp686C04126 (from clone DKFZp686C04126).
AK074699 - Homo sapiens cDNA FLJ90218 fis, clone MAMMA1002586, highly similar to Endoplasmic reticulummannosyl-oligosaccharide 1,2-alpha-mannosidase (EC 3.2.1.113).
JD462270 - Sequence 443294 from Patent EP1572962.
JD329564 - Sequence 310588 from Patent EP1572962.
AK130143 - Homo sapiens cDNA FLJ26633 fis, clone MPC07672, highly similar to Homo sapiens alpha 1,2-mannosidase (LOC51697).
AL110221 - Homo sapiens mRNA; cDNA DKFZp434I213 (from clone DKFZp434I213).
AK128033 - Homo sapiens cDNA FLJ46152 fis, clone TESTI4001027, highly similar to Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1).
AK126926 - Homo sapiens cDNA FLJ44979 fis, clone BRAWH3003411, highly similar to Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1).
AK128341 - Homo sapiens cDNA FLJ46483 fis, clone THYMU3026306, highly similar to Endoplasmic reticulummannosyl-oligosaccharide 1,2-alpha-mannosidase (EC 3.2.1.113).
AK128257 - Homo sapiens cDNA FLJ46392 fis, clone THYMU3002825, highly similar to Endoplasmic reticulummannosyl-oligosaccharide 1,2-alpha-mannosidase (EC3.2.1.113).
AK127005 - Homo sapiens cDNA FLJ45060 fis, clone BRAWH3023415.
AB209276 - Homo sapiens mRNA for alpha 1,2-mannosidase variant protein.
AK094878 - Homo sapiens cDNA FLJ37559 fis, clone BRCOC2000186, highly similar to Homo sapiens endoplasmic reticulum alpha-mannosidase I mRNA.
AK074559 - Homo sapiens cDNA FLJ90078 fis, clone HEMBA1004505, highly similar to Endoplasmic reticulum mannosyl-oligosaccharide1,2-alpha-mannosidase (EC 3.2.1.113).
JD422521 - Sequence 403545 from Patent EP1572962.
JD536505 - Sequence 517529 from Patent EP1572962.
JD473891 - Sequence 454915 from Patent EP1572962.
JD452180 - Sequence 433204 from Patent EP1572962.
JD299925 - Sequence 280949 from Patent EP1572962.
JD216866 - Sequence 197890 from Patent EP1572962.
JD470675 - Sequence 451699 from Patent EP1572962.
JD536373 - Sequence 517397 from Patent EP1572962.
JD324771 - Sequence 305795 from Patent EP1572962.
JD285219 - Sequence 266243 from Patent EP1572962.
JD285218 - Sequence 266242 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7919 - protein N-glycosylation processing phase (mammalian)

Reactome (by CSHL, EBI, and GO)

Protein Q9UKM7 (Reactome details) participates in the following event(s):

R-HSA-901024 MAN1B1 hydrolyses 1,2-linked mannose (a branch)
R-HSA-901036 MAN1B1 hydrolyses a second 1,2-linked mannose (a branch)
R-HSA-901039 MAN1B1 hydrolyses 1,2-linked mannose (c branch)
R-HSA-901074 MAN1B1,EDEM2 hydrolyse 1,2-linked mannose (b branch)
R-HSA-901032 ER Quality Control Compartment (ERQC)
R-HSA-901042 Calnexin/calreticulin cycle
R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000371589.1, ENST00000371589.2, ENST00000371589.3, ENST00000371589.4, ENST00000371589.5, ENST00000371589.6, ENST00000371589.7, ENST00000371589.8, MA1B1_HUMAN, NR_045720, Q5VSG3, Q9BRS9, Q9UKM7, Q9Y5K7, uc318jgm.1, uc318jgm.2, UNQ747/PRO1477
UCSC ID: ENST00000371589.9_5
RefSeq Accession: NM_016219.5
Protein: Q9UKM7 (aka MA1B1_HUMAN or M1B1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MAN1B1:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.