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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Gimap5 promoted RSV degradation through interaction with M6PR.
Title: Gimap5 promoted RSV degradation through interaction with M6PR.
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.
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.
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.
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.
Mannose-6-phosphate receptor: a novel regulator of T cell immunity.
Title: Mannose-6-phosphate receptor: a novel regulator of T cell immunity.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH104 (e-PCR)
- UniSTS:89344

GDB:214831 (e-PCR)
- UniSTS:156190

STS-X56253 (e-PCR)
- UniSTS:1093

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 more info	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)

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

Status: REVIEWED

Source sequence(s)

AC006581
NM_001414323.1 → NP_001401252.1 cation-dependent mannose-6-phosphate receptor isoform 4

Status: REVIEWED

Source sequence(s)

AC006581
NM_001414324.1 → NP_001401253.1 cation-dependent mannose-6-phosphate receptor isoform 4

Status: REVIEWED

Source sequence(s)

AC006581
NM_001414325.1 → NP_001401254.1 cation-dependent mannose-6-phosphate receptor isoform 4

Status: REVIEWED

Source sequence(s)

AC006581
NM_001414327.1 → NP_001401256.1 cation-dependent mannose-6-phosphate receptor isoform 6

Status: REVIEWED

Source sequence(s)

AC006581
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
NM_001414329.1 → NP_001401258.1 cation-dependent mannose-6-phosphate receptor isoform 7

Status: REVIEWED

Source sequence(s)

AC006581
NM_001414330.1 → NP_001401259.1 cation-dependent mannose-6-phosphate receptor isoform 7

Status: REVIEWED

Source sequence(s)

AC006581
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
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
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
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

NR_182275.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC006581

Related

ENST00000541507.5
NR_182276.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC006581