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

Gene ID: 4074, updated on 28-Oct-2024

Summary

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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; AllianceGenome:HGNC:6752
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
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Genomic context

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See M6PR in Genome Data Viewer
Location:
12p13.31
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8940361..8949645, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8922596..8932340, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (9092957..9102241, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8940741-8941280 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8941281-8941820 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:8941899-8942576 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:8942577-8943254 Neighboring gene A2ML1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:8947958-8948568 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8957581-8958288 Neighboring gene long intergenic non-protein coding RNA 2972 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:8958995-8959702 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8962654-8963394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8963395-8964136 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:8967023-8967549 Neighboring gene Sharpr-MPRA regulatory region 8322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8980966-8981708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8984681-8985424 Neighboring gene alpha-2-macroglobulin like 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:9057572-9058228 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:9060851-9061506 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:9064238-9064790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4220 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:9101505-9102410 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:9102411-9103315 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:9108425-9109624 Neighboring gene polyhomeotic homolog 1 Neighboring gene killer cell lectin like receptor G1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 34 Neighboring gene VDAC2 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mannose receptor (MR) engagement by mesothelin GPI anchor polarizes tumor-associated macrophages and is blocked by anti-MR human recombinant antibody. Dangaj D, et al. PLoS One, 2011. PMID 22163010, Free PMC Article
  2. Isolation and analysis of the human 46-kDa mannose 6-phosphate receptor gene. Klier HJ, et al. Eur J Biochem, 1991 Apr 10. PMID 1849818
  3. The overexpressed human 46-kDa mannose 6-phosphate receptor mediates endocytosis and sorting of beta-glucuronidase. Watanabe H, et al. Proc Natl Acad Sci U S A, 1990 Oct. PMID 2172972, Free PMC Article
  4. Cloning of a cDNA encoding the human cation-dependent mannose 6-phosphate-specific receptor. Pohlmann R, et al. Proc Natl Acad Sci U S A, 1987 Aug. PMID 2441386, Free PMC Article
  5. Mannose 6-phosphate receptors in sorting and transport of lysosomal enzymes. Hille-Rehfeld A. Biochim Biophys Acta, 1995 Jul 17. PMID 7640295

See all (87) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
    Title: Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
  2. Gimap5 promoted RSV degradation through interaction with M6PR.
    Title: Gimap5 promoted RSV degradation through interaction with M6PR.
  3. Association between genetic variants in oxidative stress-related genes and osteoporotic bone fracture. The Hortega follow-up study.
    Title: Association between genetic variants in oxidative stress-related genes and osteoporotic bone fracture. The Hortega follow-up study.
  4. Golgi-58K can re-localize to late endosomes upon cellular uptake of PS-ASOs and facilitates endosomal release of ASOs.
    Title: Golgi-58K can re-localize to late endosomes upon cellular uptake of PS-ASOs and facilitates endosomal release of ASOs.
  5. Monochorionic twins with selective fetal growth restriction: insight from placental whole-transcriptome analysis.
    Title: Monochorionic twins with selective fetal growth restriction: insight from placental whole-transcriptome analysis.
  6. The co-localization of M6PR and of GCC2 with ASOs is influenced by the PS modifications, which have been shown to enhance the affinity of ASOs for proteins, suggesting that localization of these proteins to LEs is mediated by ASO-protein interactions. Reduction of M6PR levels also decreased PS-ASO activity in mouse cells and in livers of mice treated subcutaneously with PS-ASO, indicating a conserved mechanism.
    Title: Golgi-endosome transport mediated by M6PR facilitates release of antisense oligonucleotides from endosomes.
  7. Mannose-6-phosphate receptor: a novel regulator of T cell immunity.
    Title: Mannose-6-phosphate receptor: a novel regulator of T cell immunity.
  8. Results suggest that, in hormone-responsive breast cancer cells, CD-MPR and cathepsin D are distributed together, and that their expression and distribution are influenced by estradiol. These findings strongly support the involvement of the CD-MPR in the pro-enzyme transport in MCF-7 cells, suggesting the participation of this receptor in the procathepsin D secretion previously reported in breast cancer cells.
    Title: Cation-dependent mannose-6-phosphate receptor expression and distribution are influenced by estradiol in MCF-7 breast cancer cells.
  9. Most rotavirus strains require the cation-independent mannose-6-phosphate receptor, sortilin-1, and cathepsins to enter cells.
    Title: Most rotavirus strains require the cation-independent mannose-6-phosphate receptor, sortilin-1, and cathepsins to enter cells.
  10. In light of existing report suggesting critical role of Nef-GCC185 interaction reveals valuable mechanistic insights affecting specific protein transport pathway in docking of late endosome derived Rab9 bearing transport vesicle at TGN elucidating role of Nef during viral pathogenesis.
    Title: HIV-1 Nef binds with human GCC185 protein and regulates mannose 6 phosphate receptor recycling.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32994

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
  
enables protein transporter activity TAS
Traceable Author Statement
more info
  
enables retromer complex binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in endosome to lysosome transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in glycosphingolipid catabolic process TAS
Traceable Author Statement
more info
  
involved_in lysosomal transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein targeting to lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 PubMed 
involved_in secretion of lysosomal enzymes IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
  
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in late endosome IEA
Inferred from Electronic Annotation
more info
  
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network membrane TAS
Traceable Author Statement
more info
  
located_in transport vesicle TAS
Traceable Author Statement
more info
  

General protein information

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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

NCBI Reference Sequences (RefSeq)

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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_001207024.2 → NP_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
    Consensus CDS
    CCDS73440.1
    UniProtKB/TrEMBL
    F5GX30
    Related
    ENSP00000440488.2, ENST00000536844.5
    Conserved Domains (1) summary
    cl26634
    Location:1 → 191
    ATG27; Autophagy-related protein 27

  2. NM_001414320.1 → NP_001401249.1  cation-dependent mannose-6-phosphate receptor isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006581
    UniProtKB/Swiss-Prot
    A8K528, D3DUV5, P20645

  3. NM_001414322.1 → NP_001401251.1  cation-dependent mannose-6-phosphate receptor isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC006581

  4. NM_001414323.1 → NP_001401252.1  cation-dependent mannose-6-phosphate receptor isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC006581

  5. NM_001414324.1 → NP_001401253.1  cation-dependent mannose-6-phosphate receptor isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC006581

  6. NM_001414325.1 → NP_001401254.1  cation-dependent mannose-6-phosphate receptor isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC006581

  7. NM_001414327.1 → NP_001401256.1  cation-dependent mannose-6-phosphate receptor isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC006581

  8. NM_001414328.1 → NP_001401257.1  cation-dependent mannose-6-phosphate receptor isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC006581
    Related
    ENSP00000437595.1, ENST00000543704.5

  9. NM_001414329.1 → NP_001401258.1  cation-dependent mannose-6-phosphate receptor isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC006581

  10. NM_001414330.1 → NP_001401259.1  cation-dependent mannose-6-phosphate receptor isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC006581

  11. NM_001414331.1 → NP_001401260.1  cation-dependent mannose-6-phosphate receptor isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006581
    UniProtKB/Swiss-Prot
    A8K528, D3DUV5, P20645

  12. NM_001414332.1 → NP_001401261.1  cation-dependent mannose-6-phosphate receptor isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006581
    UniProtKB/Swiss-Prot
    A8K528, D3DUV5, P20645

  13. NM_001414333.1 → NP_001401262.1  cation-dependent mannose-6-phosphate receptor isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006581
    UniProtKB/Swiss-Prot
    A8K528, D3DUV5, P20645

  14. NM_002355.4 → NP_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) encodes the longest isoform (1). Variants 1, 3, and 14-16 all encode the same isoform (1).
    Source sequence(s)
    AA648974, DC341018, M16985
    Consensus CDS
    CCDS8598.1
    UniProtKB/Swiss-Prot
    A8K528, D3DUV5, P20645
    UniProtKB/TrEMBL
    B2R6S2, Q53GY9, Q6I9U3
    Related
    ENSP00000000412.3, ENST00000000412.8
    Conserved Domains (1) summary
    pfam02157
    Location:24 → 277
    Man-6-P_recep; Mannose-6-phosphate receptor

RNA

  1. NR_182275.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006581
    Related
    ENST00000541507.5

  2. NR_182276.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006581

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    8940361..8949645 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428850.1 → XP_047284806.1  cation-dependent mannose-6-phosphate receptor isoform X1

    UniProtKB/Swiss-Prot
    A8K528, D3DUV5, P20645

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    8922596..8932340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372054.1 → XP_054228029.1  cation-dependent mannose-6-phosphate receptor isoform X1

    UniProtKB/Swiss-Prot
    A8K528, D3DUV5, P20645
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20645.1 GenPept UniProtKB/Swiss-Prot:P20645

Gene LinkOut

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