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Aliases for M6PR Gene

Aliases for M6PR Gene

  • Mannose-6-Phosphate Receptor, Cation Dependent 2 3 5
  • CD Man-6-P Receptor 3 4
  • MPR 46 3 4
  • CD-MPR 3 4
  • MPR46 3 4
  • Mannose-6-Phosphate Receptor (Cation Dependent) 2
  • Cation-Dependent Mannose-6-Phosphate Receptor 3
  • 46-KDa Mannose 6-Phosphate Receptor 3
  • 46 KDa Mannose 6-Phosphate Receptor 4
  • Small Mannose 6-Phosphate Receptor 3
  • Mr 46,000 Man6PR 3
  • CD-M6PR 3
  • MPR-46 3
  • SMPR 3
  • MPRD 4

External Ids for M6PR Gene

Previous GeneCards Identifiers for M6PR Gene

  • GC12M008801
  • GC12M009241
  • GC12M008993
  • GC12M009092

Summaries for M6PR Gene

Entrez Gene Summary for M6PR Gene

  • This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]

GeneCards Summary for M6PR Gene

M6PR (Mannose-6-Phosphate Receptor, Cation Dependent) is a Protein Coding gene. Diseases associated with M6PR include Niemann-Pick Disease and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Golgi-to-ER retrograde transport and Retrograde transport at the Trans-Golgi-Network. GO annotations related to this gene include transmembrane signaling receptor activity and mannose transmembrane transporter activity.

UniProtKB/Swiss-Prot for M6PR Gene

  • Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex.

Gene Wiki entry for M6PR Gene

Additional gene information for M6PR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for M6PR Gene

Genomics for M6PR Gene

Regulatory Elements for M6PR Gene

Enhancers for M6PR 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
GH12H008947 1.7 FANTOM5 ENCODE dbSUPER 32.4 -2.3 -2259 8 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 ZNF207 ZNF143 DEK M6PR KLRG1 LINC00612 PHC1 LOC642846 DDX12P ENSG00000257105
GH12H008993 1.3 Ensembl ENCODE dbSUPER 18.2 -46.3 -46343 4 TBL1XR1 BMI1 BATF TCF12 ATF7 ETV6 RUNX3 IKZF2 CREM CBFB KLRG1 M6PR ENSG00000257105
GH12H008909 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +37.1 37094 7 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A FEZF1 ZNF2 GLIS2 ZNF143 KLRG1 M6PR PHC1 MFAP5 ENSG00000255829 A2ML1 A2ML1-AS2 A2ML1-AS1
GH12H008617 1.4 FANTOM5 Ensembl ENCODE 14.4 +331.1 331062 2 PKNOX1 JUN BMI1 CEBPG BATF FOSL1 GTF3C2 ATF7 RUNX3 IKZF2 CLEC4E LOC642846 DDX12P M6PR LINC00612 ENSG00000255753 A2ML1 A2ML1-AS2 CLEC6A CLEC4A
GH12H008025 1.6 Ensembl ENCODE dbSUPER 11 +923.2 923160 2 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 POU5F1P3 M6PR ENSG00000256967 HSPD1P12 GC12M007989 FOXJ2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around M6PR on UCSC Golden Path with GeneCards custom track

Promoters for M6PR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000048573 255 3401 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 ZNF207 ZNF143

Genomic Location for M6PR Gene

Chromosome:
12
Start:
8,940,361 bp from pter
End:
8,949,955 bp from pter
Size:
9,595 bases
Orientation:
Minus strand

Genomic View for M6PR Gene

Genes around M6PR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
M6PR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for M6PR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for M6PR Gene

Proteins for M6PR Gene

  • Protein details for M6PR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20645-MPRD_HUMAN
    Recommended name:
    Cation-dependent mannose-6-phosphate receptor
    Protein Accession:
    P20645
    Secondary Accessions:
    • A8K528
    • D3DUV5

    Protein attributes for M6PR Gene

    Size:
    277 amino acids
    Molecular mass:
    30993 Da
    Quaternary structure:
    • Homodimer. Binds GGA1, GGA2 and GGA3.
    Miscellaneous:
    • This receptor has optimal binding in the presence of divalent cations.

    Three dimensional structures from OCA and Proteopedia for M6PR Gene

neXtProt entry for M6PR Gene

Post-translational modifications for M6PR Gene

  • Glycosylation at Asn57, posLast=8383, Asn94, Asn107, and posLast=113113
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for M6PR Gene

Domains & Families for M6PR Gene

Gene Families for M6PR Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for M6PR Gene

Graphical View of Domain Structure for InterPro Entry

P20645

UniProtKB/Swiss-Prot:

MPRD_HUMAN :
  • The extracellular domain is homologous to the repeating units (of approximately 147 AA) of the cation-independent mannose 6-phosphate receptor.
Domain:
  • The extracellular domain is homologous to the repeating units (of approximately 147 AA) of the cation-independent mannose 6-phosphate receptor.
genes like me logo Genes that share domains with M6PR: view

Function for M6PR Gene

Molecular function for M6PR Gene

GENATLAS Biochemistry:
mannose 6-phosphate receptor,cation dependent ,expressed on the cell surface of Golgi and late endosome membrane,targetting phosphorylated enzymes to lysosomes
UniProtKB/Swiss-Prot Function:
Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex.

Phenotypes From GWAS Catalog for M6PR Gene

Gene Ontology (GO) - Molecular Function for M6PR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 10799489
GO:0005515 protein binding IPI 27385586
GO:0005537 mannose binding IEA --
GO:0015578 mannose transmembrane transporter activity IEA --
GO:1905394 retromer complex binding IMP 27385586
genes like me logo Genes that share ontologies with M6PR: view
genes like me logo Genes that share phenotypes with M6PR: view

Animal Models for M6PR Gene

MGI Knock Outs for M6PR:

Animal Model Products

  • Taconic Biosciences Mouse Models for M6PR

CRISPR Products

miRNA for M6PR Gene

miRTarBase miRNAs that target M6PR

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for M6PR
  • Applied Biological Materials Clones for M6PR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for M6PR Gene

Localization for M6PR Gene

Subcellular locations from UniProtKB/Swiss-Prot for M6PR Gene

Lysosome membrane; Single-pass type I 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 M6PR gene
Compartment Confidence
plasma membrane 5
lysosome 5
golgi apparatus 5
endosome 5
extracellular 4
endoplasmic reticulum 2
cytosol 1

Gene Ontology (GO) - Cellular Components for M6PR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IDA 15078902
GO:0005770 late endosome IEA --
GO:0005802 trans-Golgi network IBA --
genes like me logo Genes that share ontologies with M6PR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for M6PR Gene

Pathways & Interactions for M6PR Gene

genes like me logo Genes that share pathways with M6PR: view

Gene Ontology (GO) - Biological Process for M6PR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006898 receptor-mediated endocytosis TAS 10799489
GO:0007165 signal transduction IEA --
GO:0008333 endosome to lysosome transport TAS 10799489
GO:0015761 mannose transport IEA --
genes like me logo Genes that share ontologies with M6PR: view

No data available for SIGNOR curated interactions for M6PR Gene

Drugs & Compounds for M6PR Gene

(16) Drugs for M6PR Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alglucosidase alfa Approved Pharma Target, binder 0
1-3 Sugar Ring of Pentamannosyl 6-Phosphate Experimental Pharma Target 0
alpha-D-mannose 6-phosphate Experimental Pharma Target 0
Mannose 6-phosphate Investigational Pharma 0

(11) Additional Compounds for M6PR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with M6PR: view

Transcripts for M6PR Gene

Unigene Clusters for M6PR Gene

Mannose-6-phosphate receptor (cation dependent):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for M6PR
  • Applied Biological Materials Clones for M6PR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for M6PR Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b
SP1: - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: -
SP6: - - - - - -
SP7: - -
SP8: -
SP9: - -

Relevant External Links for M6PR Gene

GeneLoc Exon Structure for
M6PR
ECgene alternative splicing isoforms for
M6PR

Expression for M6PR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for M6PR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for M6PR Gene

This gene is overexpressed in Nasal epithelium (26.9) and Peripheral blood mononuclear cells (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for M6PR Gene



Protein tissue co-expression partners for M6PR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of M6PR Gene:

M6PR

SOURCE GeneReport for Unigene cluster for M6PR Gene:

Hs.134084

Evidence on tissue expression from TISSUES for M6PR Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Muscle(4.5)
  • Blood(4.4)
  • Skin(3.6)
  • Kidney(3.3)
  • Lung(3.3)
  • Intestine(3)
  • Heart(2.6)
  • Eye(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with M6PR: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for M6PR Gene

Orthologs for M6PR Gene

This gene was present in the common ancestor of chordates.

Orthologs for M6PR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia M6PR 33 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia M6PR 33 34
  • 92.9 (n)
oppossum
(Monodelphis domestica)
Mammalia M6PR 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia M6PR 33 34
  • 90.01 (n)
mouse
(Mus musculus)
Mammalia M6pr 33 16 34
  • 87.97 (n)
rat
(Rattus norvegicus)
Mammalia LOC100909548 33
  • 87.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia M6PR 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves M6PR 33 34
  • 70.15 (n)
lizard
(Anolis carolinensis)
Reptilia M6PR 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia m6pr 33
  • 62.2 (n)
Str.4991 33
African clawed frog
(Xenopus laevis)
Amphibia m6pr-prov 33
zebrafish
(Danio rerio)
Actinopterygii m6pr 33 34
  • 58.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToMany
-- 34
  • 25 (a)
OneToMany
Species where no ortholog for M6PR 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for M6PR Gene

ENSEMBL:
Gene Tree for M6PR (if available)
TreeFam:
Gene Tree for M6PR (if available)

Paralogs for M6PR Gene

Pseudogenes.org Pseudogenes for M6PR Gene

genes like me logo Genes that share paralogs with M6PR: view

No data available for Paralogs for M6PR Gene

Variants for M6PR Gene

Sequence variations from dbSNP and Humsavar for M6PR Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000586739 -- 8,942,275(+) CAACT(A/G)TCTTG intron-variant
rs1000783212 -- 8,949,874(+) TTTCA(A/G)TGGGG upstream-variant-2KB
rs1000813117 -- 8,943,041(+) CTCCA(C/G)CTCCC intron-variant
rs1001110889 -- 8,949,595(+) CCAGA(A/G)CTAGT upstream-variant-2KB, utr-variant-5-prime
rs1001843657 -- 8,942,971(+) TTTTT(C/T)AGACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for M6PR Gene

Variant ID Type Subtype PubMed ID
nsv1051530 CNV gain 25217958
nsv832327 CNV loss 17160897
nsv973019 CNV duplication 23825009

Variation tolerance for M6PR Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.15; 80.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for M6PR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
M6PR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for M6PR Gene

Disorders for M6PR Gene

MalaCards: The human disease database

(4) MalaCards diseases for M6PR Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
niemann-pick disease
  • niemann-pick disease, type a
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
mucolipidosis ii alpha/beta
  • i-cell disease
mucopolysaccharidosis type iiia
  • mucopolysaccharidosis iii
- elite association - COSMIC cancer census association via MalaCards
Search M6PR in MalaCards View complete list of genes associated with diseases

Relevant External Links for M6PR

Genetic Association Database (GAD)
M6PR
Human Genome Epidemiology (HuGE) Navigator
M6PR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
M6PR
genes like me logo Genes that share disorders with M6PR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for M6PR Gene

Publications for M6PR Gene

  1. Putative association of polymorphism in the mannose 6-phosphate receptor gene with major depression and Alzheimer's disease. (PMID: 15167696) Kölsch H … Heun R (Psychiatric genetics 2004) 3 22 45 60
  2. Sorting of mannose 6-phosphate receptors mediated by the GGAs. (PMID: 11387475) Puertollano R … Bonifacino JS (Science (New York, N.Y.) 2001) 3 4 22 60
  3. Isolation and analysis of the human 46-kDa mannose 6-phosphate receptor gene. (PMID: 1849818) Klier HJ … Pohlmann R (European journal of biochemistry 1991) 3 4 22 60
  4. Intermonomer interactions are essential for lysosomal enzyme binding by the cation-dependent mannose 6-phosphate receptor. (PMID: 19928875) Olson LJ … Kim JJ (Biochemistry 2010) 3 22 60
  5. Carbohydrate recognition by the mannose-6-phosphate receptors. (PMID: 19801188) Kim JJ … Dahms NM (Current opinion in structural biology 2009) 3 22 60

Products for M6PR Gene

  • Addgene plasmids for M6PR

Sources for M6PR Gene

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