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

    Gene ID: 4074, updated on 2-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001207024.2NP_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:1191
      ATG27; Autophagy-related protein 27
    2. NM_001414320.1NP_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_001414322.1NP_001401251.1  cation-dependent mannose-6-phosphate receptor isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006581
    4. NM_001414323.1NP_001401252.1  cation-dependent mannose-6-phosphate receptor isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006581
    5. NM_001414324.1NP_001401253.1  cation-dependent mannose-6-phosphate receptor isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006581
    6. NM_001414325.1NP_001401254.1  cation-dependent mannose-6-phosphate receptor isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006581
    7. NM_001414327.1NP_001401256.1  cation-dependent mannose-6-phosphate receptor isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC006581
    8. NM_001414328.1NP_001401257.1  cation-dependent mannose-6-phosphate receptor isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC006581
      Related
      ENSP00000437595.1, ENST00000543704.5
    9. NM_001414329.1NP_001401258.1  cation-dependent mannose-6-phosphate receptor isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC006581
    10. NM_001414330.1NP_001401259.1  cation-dependent mannose-6-phosphate receptor isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC006581
    11. NM_001414331.1NP_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_001414332.1NP_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_001414333.1NP_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_002355.4NP_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:24277
      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_047428850.1XP_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_054372054.1XP_054228029.1  cation-dependent mannose-6-phosphate receptor isoform X1

      UniProtKB/Swiss-Prot
      A8K528, D3DUV5, P20645