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M6PR mannose-6-phosphate receptor, cation dependent [ Homo sapiens (human) ]

Gene ID: 4074, updated on 12-Aug-2018
Official Symbol
M6PRprovided by HGNC
Official Full Name
mannose-6-phosphate receptor, cation dependentprovided by HGNC
Primary source
HGNC:HGNC:6752
See related
Ensembl:ENSG00000003056 MIM:154540; Vega:OTTHUMG00000168276
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMPR; MPR46; CD-MPR; MPR 46; MPR-46; CD-M6PR
Summary
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]
Expression
Ubiquitous expression in appendix (RPKM 59.8), lymph node (RPKM 57.5) and 25 other tissues See more
Orthologs
See M6PR in Genome Data Viewer
Location:
12p13.31
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (8940361..8949761, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (9092957..9102357, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal modification protein rimK like family member B Neighboring gene ribosomal protein SA pseudogene 51 Neighboring gene alpha-2-macroglobulin like 1 Neighboring gene polyhomeotic homolog 1 Neighboring gene killer cell lectin like receptor G1 Neighboring gene voltage dependent anion channel 2 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 612

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Retrograde transport at the Trans-Golgi-Network, organism-specific biosystem (from REACTOME)
    Retrograde transport at the Trans-Golgi-Network, organism-specific biosystemThe trans-Golgi network is the docking site for retrograde cargo from the endolysosomal system and the plasma membrane. Typical cargo includes recycling resident TGN proteins such as TGOLN2 (also kn...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ32994

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mannose binding IEA
Inferred from Electronic Annotation
more info
 
mannose transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
retromer complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retromer complex binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
endosome to lysosome transport TAS
Traceable Author Statement
more info
PubMed 
mannose transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
PubMed 
secretion of lysosomal enzymes IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretion of lysosomal enzymes IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
clathrin-coated vesicle membrane TAS
Traceable Author Statement
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
late endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
COLOCALIZES_WITH retromer complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with retromer complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with retromer complex IPI
Inferred from Physical Interaction
more info
PubMed 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 
transport vesicle TAS
Traceable Author Statement
more info
 
Preferred Names
cation-dependent mannose-6-phosphate receptor
Names
46-kDa mannose 6-phosphate receptor
CD Man-6-P receptor
Mr 46,000 Man6PR
small mannose 6-phosphate receptor

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001207024.1NP_001193953.1  cation-dependent mannose-6-phosphate receptor isoform 2 precursor

    See identical proteins and their annotated locations for NP_001193953.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two consecutive exons in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AA648974, BG750588, BM546062, BU166950, DC341018
    Consensus CDS
    CCDS73440.1
    UniProtKB/TrEMBL
    F5GX30
    Related
    ENSP00000440488.2, ENST00000536844.5
    Conserved Domains (1) summary
    cl26634
    Location:1191
    ATG27; Autophagy-related protein 27
  2. NM_002355.3NP_002346.1  cation-dependent mannose-6-phosphate receptor isoform 1 precursor

    See identical proteins and their annotated locations for NP_002346.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA648974, DC341018, M16985
    Consensus CDS
    CCDS8598.1
    UniProtKB/Swiss-Prot
    P20645
    Related
    ENSP00000000412.3, OTTHUMP00000238493, ENST00000000412.7, OTTHUMT00000399130
    Conserved Domains (1) summary
    cl26634
    Location:1277
    ATG27; Autophagy-related protein 27

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    8940361..8949761 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253376.2XP_005253433.1  cation-dependent mannose-6-phosphate receptor isoform X1

    See identical proteins and their annotated locations for XP_005253433.1

    UniProtKB/Swiss-Prot
    P20645
    Conserved Domains (1) summary
    cl26634
    Location:1277
    ATG27; Autophagy-related protein 27
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