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Aliases for MAN1A1 Gene

Aliases for MAN1A1 Gene

  • Mannosidase Alpha Class 1A Member 1 2 3 4
  • Mannosidase, Alpha, Class 1A, Member 1 2 3 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 63
  • EC 3.2.1 63
  • 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 Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include calcium ion binding and mannosidase activity. An important paralog of this gene is MAN1B1.

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

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

Proteomics data for MAN1A1 Gene at MOPED

Post-translational modifications for MAN1A1 Gene

  • Glycosylation at Asn 513
  • Modification sites at PhosphoSitePlus

Other Protein References for MAN1A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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:0005509 calcium ion binding 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

CRISPR Products

miRNA for MAN1A1 Gene

miRTarBase miRNAs that target MAN1A1

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
Jensen Localization Image for MAN1A1 Gene COMPARTMENTS Subcellular localization image for MAN1A1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
cytosol 3
mitochondrion 1
peroxisome 1
plasma membrane 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
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.

Interacting Proteins for MAN1A1 Gene

Gene Ontology (GO) - Biological Process for MAN1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043687 post-translational protein modification 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(3) 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
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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 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, MOPED, and MaxQB for MAN1A1 Gene



SOURCE GeneReport for Unigene cluster for MAN1A1 Gene Hs.102788

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

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia LOC530027 35
  • 90.14 (n)
  • 89.21 (a)
MAN1A1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAN1A1 35
  • 90.62 (n)
  • 91.71 (a)
MAN1A1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Man1a 35
  • 87.85 (n)
  • 90.81 (a)
Man1a 16
Man1a 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAN1A1 35
  • 99.69 (n)
  • 99.39 (a)
MAN1A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Man1a1 35
  • 86.98 (n)
  • 90.96 (a)
oppossum
(Monodelphis domestica)
Mammalia MAN1A1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAN1A1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN1A1 35
  • 79.35 (n)
  • 86.73 (a)
MAN1A1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAN1A1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man1a1 35
  • 74.8 (n)
  • 78.33 (a)
Str.7245 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.34275 35
zebrafish
(Danio rerio)
Actinopterygii man1a1 35
  • 68.25 (n)
  • 74.35 (a)
man1a1 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta alpha-Man-I 37
  • 58 (a)
alpha-Man-I 36
  • 42 (a)
ManyToMany
CG31202 36
  • 37 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C52E4.5 37
  • 50 (a)
D2030.1 37
  • 48 (a)
D2030.1 35
  • 54.08 (n)
  • 51.24 (a)
mans-1 36
  • 47 (a)
ManyToMany
mans-2 36
  • 39 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNS1 36
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MNS2 35
  • 51.44 (n)
  • 44.65 (a)
rice
(Oryza sativa)
Liliopsida Os04g0606400 35
  • 50.68 (n)
  • 45.31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for MAN1A1:
  • 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
rs35544784 - 119,179,830(-) AAATC(A/G)GAGAG reference, missense
rs2558 -- 119,179,509(-) ATGAC(C/T)TCTTA utr-variant-3-prime
rs2559 -- 119,179,499(-) AATTA(C/T)AATTT utr-variant-3-prime
rs168983 -- 119,332,781(+) ACTCC(A/G)TCTCA intron-variant
rs171843 -- 119,332,420(+) TGTTG(C/T)CTCTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv886570 CNV Gain 21882294
nsv886571 CNV Gain 21882294
nsv522725 CNV Loss 19592680
esv2507819 CNV Deletion 19546169
esv2732626 CNV Deletion 23290073
esv2540099 CNV Deletion 19546169
esv2732627 CNV Deletion 23290073
esv2732629 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
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 23 67
  2. 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 23
  3. 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 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for MAN1A1 Gene

Sources for MAN1A1 Gene

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