Human Gene MAN1A1 (uc003pym.2) Description and Page Index
  Description: Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.
RefSeq Summary (NM_005907): This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK025599.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000368468.4/ ENSP00000357453.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr6:119,498,366-119,670,931 Size: 172,566 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr6:119,500,984-119,670,230 Size: 169,247 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:119,498,366-119,670,931)mRNA (may differ from genome)Protein (653 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCEUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: MA1A1_HUMAN
DESCRIPTION: RecName: Full=Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA; EC=3.2.1.113; AltName: Full=Man(9)-alpha-mannosidase; Short=Man9-mannosidase; AltName: Full=Mannosidase alpha class 1A member 1; AltName: Full=Processing alpha-1,2-mannosidase IA; Short=Alpha-1,2-mannosidase IA;
FUNCTION: Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)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 and kifunensine.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
SIMILARITY: Belongs to the glycosyl hydrolase 47 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MAN1A1
CDC HuGE Published Literature: MAN1A1
Positive Disease Associations: Basophils , Glucose
Related Studies:
  1. Basophils
    , , . [PubMed 0]
  2. Glucose
    , , . [PubMed 0]
  3. Glucose
    , , . [PubMed 0]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C006780 bisphenol A
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C404910 2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • D015124 8-Bromo Cyclic Adenosine Monophosphate
  • C547126 AZM551248
  • D016604 Aflatoxin B1
  • D004958 Estradiol
  • D005472 Fluorouracil
  • D015474 Isotretinoin
          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: 37.23 RPKM in Adipose - Subcutaneous
Total median expression: 656.88 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
5' UTR -238.80447-0.534 Picture PostScript Text
3' UTR -575.282618-0.220 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

ModBase Predicted Comparative 3D Structure on P33908
FrontTopSide
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 orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment 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:0015923 mannosidase activity
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds

Biological Process:
GO:0006486 protein glycosylation
GO:0006491 N-glycan processing
GO:0008152 metabolic process
GO:1904381 Golgi apparatus mannose trimming

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK025599 - Homo sapiens cDNA: FLJ21946 fis, clone HEP04860, highly similar to HSHUMM9 Homo sapiens HUMM9 mRNA.
X74837 - H.sapiens HUMM9 mRNA.
AK307383 - Homo sapiens cDNA, FLJ97331.
BC065827 - Homo sapiens mannosidase, alpha, class 1A, member 1, mRNA (cDNA clone MGC:75419 IMAGE:30390733), complete cds.
KJ901563 - Synthetic construct Homo sapiens clone ccsbBroadEn_10957 MAN1A1 gene, encodes complete protein.
AK024588 - Homo sapiens cDNA: FLJ20935 fis, clone ADSE01534.
JD552022 - Sequence 533046 from Patent EP1572962.
JD019804 - Sequence 828 from Patent EP1572962.
JD026212 - Sequence 7236 from Patent EP1572962.
JD032352 - Sequence 13376 from Patent EP1572962.
JD033586 - Sequence 14610 from Patent EP1572962.
JD208042 - Sequence 189066 from Patent EP1572962.
JD074301 - Sequence 55325 from Patent EP1572962.
JD359521 - Sequence 340545 from Patent EP1572962.
JD246061 - Sequence 227085 from Patent EP1572962.
JD274295 - Sequence 255319 from Patent EP1572962.
JD158416 - Sequence 139440 from Patent EP1572962.
JD261445 - Sequence 242469 from Patent EP1572962.
JD300071 - Sequence 281095 from Patent EP1572962.
JD353330 - Sequence 334354 from Patent EP1572962.
JD357244 - Sequence 338268 from Patent EP1572962.
JD222512 - Sequence 203536 from Patent EP1572962.
JD335249 - Sequence 316273 from Patent EP1572962.
JD396864 - Sequence 377888 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00510 - N-Glycan biosynthesis
hsa01100 - Metabolic pathways

BioCarta from NCI Cancer Genome Anatomy Project
h_eradPathway - ER┐associated degradation (ERAD) Pathway
h_aMANpathway - Steps in the Glycosylation of Mammalian N-linked Oligosaccarides

Reactome (by CSHL, EBI, and GO)

Protein P33908 (Reactome details) participates in the following event(s):

R-HSA-964737 Progressive trimming of alpha-1,2-linked mannose residues from Man9GlcNAc2 to produce Man5GlcNAc2
R-HSA-964825 Progressive trimming of alpha-1,2-linked mannose residues from Man8GlcNAc2 to produce Man5GlcNAc2
R-HSA-964830 Progressive trimming of alpha-1,2-linked mannose residues from Man7GlcNAc2 to produce Man5GlcNAc2
R-HSA-8847544 The COG complex and CUX1 and GOLGA5 dimers contribute to intra-Golgi vesicle tethering
R-HSA-6811438 Intra-Golgi traffic
R-HSA-964827 Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-964739 N-glycan trimming and elongation in the cis-Golgi
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-5653656 Vesicle-mediated transport
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: MA1A1_HUMAN, NM_005907, NP_005898, P33908, Q9NU44, Q9UJI3, uc003pym.1
UCSC ID: uc003pym.2
RefSeq Accession: NM_005907
Protein: P33908 (aka MA1A1_HUMAN or M1A1_HUMAN)
CCDS: CCDS5122.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005907.3
exon count: 13CDS single in 3' UTR: no RNA size: 5044
ORF size: 1962CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3890.00frame shift in genome: no % Coverage: 99.66
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.