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Aliases for MAN1A1 Gene

Aliases for MAN1A1 Gene

  • Mannosidase Alpha Class 1A Member 1 2 3 4 5
  • Processing Alpha-1,2-Mannosidase IA 3 4
  • Alpha-1,2-Mannosidase IA 3 4
  • Man(9)-Alpha-Mannosidase 3 4
  • Man9-Mannosidase 3 4
  • EC 3.2.1.113 4 61
  • Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase IA 3
  • Mannosidase, Alpha, Class 1A, Member 1 2
  • EC 3.2.1 61
  • HUMM3 3
  • HUMM9 3
  • MAN9 3

External Ids for MAN1A1 Gene

Previous GeneCards Identifiers for MAN1A1 Gene

  • GC06M119456
  • GC06M119479
  • GC06M119540
  • GC06M117081

Summaries for MAN1A1 Gene

Entrez Gene Summary for MAN1A1 Gene

  • 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]

GeneCards Summary for MAN1A1 Gene

MAN1A1 (Mannosidase Alpha Class 1A Member 1) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. GO annotations related to this gene include calcium ion binding and mannosidase activity. An important paralog of this gene is MAN1A2.

UniProtKB/Swiss-Prot for MAN1A1 Gene

  • 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).

Gene Wiki entry for MAN1A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAN1A1 Gene

Genomics for MAN1A1 Gene

Regulatory Elements for MAN1A1 Gene

Enhancers for MAN1A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F119307 1.7 FANTOM5 Ensembl ENCODE 17.9 +39.5 39549 9.1 HDGF PKNOX1 ARNT WRNIP1 ARID4B FEZF1 ZNF2 YY1 FOS SP3 MAN1A1 RPL13AP15 MCM9 RNU6-194P GC06M119272
GH06F119169 1.3 Ensembl ENCODE 10.1 +178.7 178683 6.3 PKNOX1 ATF1 ARID4B DMAP1 YY1 GATA2 PAF1 SP5 NFYC MXD4 FAM184A RNU6-194P MAN1A1 GC06P119180 ENSG00000220139
GH06F119128 1.2 Ensembl ENCODE 10.8 +221.5 221538 2.2 MLX ARID4B ZNF143 FOS SP5 REST PPARG KAT8 MIER3 SMARCA4 MAN1A1 MIR548B FAM184A
GH06F119626 1.2 Ensembl ENCODE 8.7 -276.5 -276464 2.6 PKNOX1 ATF1 ARNT ELK1 GATA2 NCOA1 REST CREB3 MBD2 MEF2D MAN1A1 GC06P119628 LOC285762
GH06F119458 0.7 ENCODE 11.2 -107.9 -107946 1.4 HDGF RFX1 MTA2 MAFG TBX21 RELA ZNF316 SCRT2 IKZF1 MLLT1 MAN1A1 LOC105377973 PIR44683
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAN1A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAN1A1 Gene

Chromosome:
6
Start:
119,177,201 bp from pter
End:
119,351,633 bp from pter
Size:
174,433 bases
Orientation:
Minus strand

Genomic View for MAN1A1 Gene

Genes around MAN1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAN1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAN1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAN1A1 Gene

Proteins for MAN1A1 Gene

  • Protein details for MAN1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33908-MA1A1_HUMAN
    Recommended name:
    Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA
    Protein Accession:
    P33908
    Secondary Accessions:
    • E7EU32
    • Q6P052
    • Q9NU44
    • Q9UJI3

    Protein attributes for MAN1A1 Gene

    Size:
    653 amino acids
    Molecular mass:
    72969 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MAN1A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAN1A1 Gene

Selected DME Specific Peptides for MAN1A1 Gene

P33908:
  • GLYPNYLNP
  • FFLPDSSK
  • WASGGSSIL
  • GSSILAEFGTLH
  • LGAEIARTCHESY
  • AIETHLIRKS
  • DSFYEYL
  • SGVLFHS
  • AYYLSGEEIF
  • SAFITLCFGA
  • GATIVDALDTL
  • GLTYIAEWKGGLLEHKMGHLTCFAGGMFALGAD
  • YEYLLKAWL
  • HCRVNGGYSGLRDVY
  • QSFFLAE

Post-translational modifications for MAN1A1 Gene

  • Glycosylation at Asn 513
  • Modification sites at PhosphoSitePlus

Other Protein References for MAN1A1 Gene

Domains & Families for MAN1A1 Gene

Gene Families for MAN1A1 Gene

Protein Domains for MAN1A1 Gene

Suggested Antigen Peptide Sequences for MAN1A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P33908

UniProtKB/Swiss-Prot:

MA1A1_HUMAN :
  • Belongs to the glycosyl hydrolase 47 family.
Family:
  • Belongs to the glycosyl hydrolase 47 family.
genes like me logo Genes that share domains with MAN1A1: view

Function for MAN1A1 Gene

Molecular function for MAN1A1 Gene

GENATLAS Biochemistry:
mannosyl-oligo saccharide alpha-1,2-mannosidase,class 1A,member 1,membrane type,expressed in kidney,located in endoplasmic reticulum,involved in processing of Asp-linked (N) glycans
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by both 1-deoxymannojirimycin and kifunensine.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for MAN1A1 Gene

Gene Ontology (GO) - Molecular Function for MAN1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity TAS --
GO:0005509 calcium ion binding IEA,TAS --
GO:0015923 mannosidase activity TAS 8223597
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with MAN1A1: view
genes like me logo Genes that share phenotypes with MAN1A1: view

Animal Model Products

miRNA for MAN1A1 Gene

miRTarBase miRNAs that target MAN1A1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAN1A1 Gene

Localization for MAN1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAN1A1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAN1A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
plasma membrane 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MAN1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum TAS 8223597
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with MAN1A1: view

Pathways & Interactions for MAN1A1 Gene

genes like me logo Genes that share pathways with MAN1A1: view

UniProtKB/Swiss-Prot P33908-MA1A1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for MAN1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006491 N-glycan processing IBA --
GO:0008152 metabolic process IEA --
GO:1904381 Golgi apparatus mannose trimming TAS --
genes like me logo Genes that share ontologies with MAN1A1: view

No data available for SIGNOR curated interactions for MAN1A1 Gene

Drugs & Compounds for MAN1A1 Gene

(3) Drugs for MAN1A1 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Swainsonine Experimental Pharma Inhibitor of alpha-mannosidase II 0
calcium Nutra 0

(2) Additional Compounds for MAN1A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4

(1) ApexBio Compounds for MAN1A1 Gene

Compound Action Cas Number
Swainsonine 72741-87-8
genes like me logo Genes that share compounds with MAN1A1: view

Transcripts for MAN1A1 Gene

mRNA/cDNA for MAN1A1 Gene

Unigene Clusters for MAN1A1 Gene

Mannosidase, alpha, class 1A, member 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAN1A1 Gene

No ASD Table

Relevant External Links for MAN1A1 Gene

GeneLoc Exon Structure for
MAN1A1
ECgene alternative splicing isoforms for
MAN1A1

Expression for MAN1A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAN1A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAN1A1 Gene

This gene is overexpressed in Liver (x4.8).

Protein differential expression in normal tissues from HIPED for MAN1A1 Gene

This gene is overexpressed in Serum (40.0) and Urine (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAN1A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MAN1A1 Gene:

MAN1A1

SOURCE GeneReport for Unigene cluster for MAN1A1 Gene:

Hs.102788
genes like me logo Genes that share expression patterns with MAN1A1: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MAN1A1 Gene

Orthologs for MAN1A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAN1A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAN1A1 34 35
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia MAN1A1 34 35
  • 90.62 (n)
cow
(Bos Taurus)
Mammalia LOC530027 34
  • 90.14 (n)
MAN1A1 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Man1a 34 16 35
  • 87.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAN1A1 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Man1a1 34
  • 86.98 (n)
oppossum
(Monodelphis domestica)
Mammalia MAN1A1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN1A1 34 35
  • 79.35 (n)
lizard
(Anolis carolinensis)
Reptilia MAN1A1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man1a1 34
  • 74.8 (n)
Str.7245 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.34275 34
zebrafish
(Danio rerio)
Actinopterygii man1a1 34 35
  • 68.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta alpha-Man-I 36 35
  • 58 (a)
CG31202 35
  • 37 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea D2030.1 36 34
  • 54.08 (n)
C52E4.5 36
  • 50 (a)
mans-1 35
  • 47 (a)
ManyToMany
mans-2 35
  • 39 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNS1 35
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MNS2 34
  • 51.44 (n)
rice
(Oryza sativa)
Liliopsida Os04g0606400 34
  • 50.68 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for MAN1A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAN1A1 Gene

ENSEMBL:
Gene Tree for MAN1A1 (if available)
TreeFam:
Gene Tree for MAN1A1 (if available)

Paralogs for MAN1A1 Gene

Paralogs for MAN1A1 Gene

(4) SIMAP similar genes for MAN1A1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for MAN1A1 Gene

genes like me logo Genes that share paralogs with MAN1A1: view

Variants for MAN1A1 Gene

Sequence variations from dbSNP and Humsavar for MAN1A1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1005506 -- 119,279,391(-) TAGTT(A/G)AGGTT intron-variant
rs1008471 -- 119,188,772(+) aacct(A/G)ggtac intron-variant
rs1008472 -- 119,188,804(+) cacct(C/T)gttta intron-variant
rs1008473 -- 119,191,208(+) CTGAA(C/T)ATCTT intron-variant
rs1012509 -- 119,187,042(+) ACCCC(C/T)TGAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAN1A1 Gene

Variant ID Type Subtype PubMed ID
dgv1827e212 CNV loss 25503493
esv2507819 CNV deletion 19546169
esv2540099 CNV deletion 19546169
esv2732626 CNV deletion 23290073
esv2732627 CNV deletion 23290073
esv2732629 CNV deletion 23290073
esv3540366 CNV deletion 23714750
esv3571375 CNV loss 25503493
nsv969440 CNV duplication 23825009
nsv955931 CNV insertion 24416366
nsv522725 CNV loss 19592680
nsv1034992 CNV loss 25217958
nsv1016699 CNV loss 25217958
esv3610543 CNV loss 21293372
esv3610542 CNV loss 21293372
esv3610540 CNV gain 21293372
esv3610538 OTHER inversion 21293372
esv3610537 OTHER inversion 21293372
esv3610536 CNV loss 21293372

Variation tolerance for MAN1A1 Gene

Residual Variation Intolerance Score: 32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAN1A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAN1A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN1A1 Gene

Disorders for MAN1A1 Gene

Relevant External Links for MAN1A1

Genetic Association Database (GAD)
MAN1A1
Human Genome Epidemiology (HuGE) Navigator
MAN1A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAN1A1

No disorders were found for MAN1A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAN1A1 Gene

Publications for MAN1A1 Gene

  1. Molecular cloning and primary structure of Man9-mannosidase from human kidney. (PMID: 8223597) Bause E. … Schmidt B. (Eur. J. Biochem. 1993) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  4. Man9-mannosidase from pig liver is a type-II membrane protein that resides in the endoplasmic reticulum. cDNA cloning and expression of the enzyme in COS 1 cells. (PMID: 9219526) Bieberich E. … Bause E. (Eur. J. Biochem. 1997) 3 22 64
  5. Man9-mannosidase from human kidney is expressed in COS cells as a Golgi-resident type II transmembrane N-glycoprotein. (PMID: 7588811) Bieberich E. … Bause E. (Eur. J. Biochem. 1995) 3 22 64

Products for MAN1A1 Gene

Sources for MAN1A1 Gene

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