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

Gene ID: 4074, updated on 7-Jun-2020

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
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

Genomic context

See M6PR in Genome Data Viewer
Location:
12p13.31
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 VDAC2 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 612

Genomic regions, transcripts, and products

Expression

  • 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 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

Homology

Clone Names

  • FLJ32994

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
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 
lysosomal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
protein targeting to lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor-mediated endocytosis TAS
Traceable Author Statement
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 IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
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
 

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)

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_002355.4NP_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) 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, ENST00000000412.8
    Conserved Domains (1) summary
    cl26634
    Location:1277
    ATG27; Autophagy-related protein 27

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 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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