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

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Summary

Official Symbol: M6PRprovided by HGNC
Official Full Name: mannose-6-phosphate receptor (cation dependent)provided by HGNC
Primary source: HGNC:6752
See related: Ensembl:ENSG00000003056; HPRD:01106; 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; FLJ32994
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]

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Genomic context

Location :: 12p13

Sequence :: Chromosome: 12; NC_000012.11 (9092957..9102357, complement)

See M6PR in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

mediates in vitro human immunodeficiency virus and sperm cell interaction
Title: In vitro human immunodeficiency virus and sperm cell interaction mediated by the mannose receptor.
Data demonstrate that Rab31 is required for transport of mannose 6-phosphate receptors from the trans-Golgi network to endosomes and for the Golgi/TGN organization.
Title: Transport of mannose-6-phosphate receptors from the trans-Golgi network to endosomes requires Rab31.
Missorting of cathepsin D in GARP-depleted cells results from accumulation of recycling MPRs in a population of light, small vesicles downstream of endosomes.
Title: Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes.
sortilin and mannose-6-phosphate receptors recycle to the TGN in SNX1-dependent carriers, which we named endosome-to-TGN transport carriers
Title: SNX1 defines an early endosomal recycling exit for sortilin and mannose 6-phosphate receptors.
Observational study of gene-disease association. (HuGE Navigator)
Title: Poor replication of candidate genes for major depressive disorder using genome-wide association data.
All 5 MPRci-deficient lines resisted infection by cell-free, but not cell-associated, VZV, secreted lysosomal enzymes, and released infectious virions when infected by cell-associated VZV
Title: Mannose 6-phosphate receptor dependence of varicella zoster virus infection in vitro and in the epidermis during varicella and zoster.
sorting of the CD-MPR in late endosomes requires a distinct di-aromatic motif with only limited possibilities for variations
Title: Characterization of the endosomal sorting signal of the cation-dependent mannose 6-phosphate receptor.
We conclude that the CI-MPR participates in lysosomal and granular targeting of serglycin and basic proteins such as lysozyme associated with the proteoglycan in hematopoietic cells.
Title: The cation-independent mannose 6-phosphate receptor is involved in lysosomal delivery of serglycin.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_002346.1	NP_005808.2	PLIN3	BIND	PubMed	M6PRBP1 (TIP47) interacts with M6PR (CD-MPR).
NP_002346.1	NP_005808.2	PLIN3	BIND	PubMed	M6PRBP1 (TIP47) interacts with M6PR (CD-MPR).
P20645	Q9UJY5	GGA1	HPRD	PubMed
P20645	Q9UJY4	GGA2	HPRD	PubMed
P20645	Q9NZ52	GGA3	HPRD	PubMed
P20645	O60664	PLIN3	HPRD	PubMed
P20645	P00797	REN	HPRD	PubMed
BioGRID:110251	BioGRID:117540	GGA1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:110251	BioGRID:116697	GGA2	BioGRID	PubMed	Two-hybrid
BioGRID:110251	BioGRID:116775	GGA3	BioGRID	PubMed	Two-hybrid
BioGRID:110251	BioGRID:115520	PLIN3	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:110251	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
mannose binding	IEA Inferred from Electronic Annotation more info
mannose transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info
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
receptor-mediated endocytosis	TAS Traceable Author Statement more info	PubMed
transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cell surface	IDA Inferred from Direct Assay more info	PubMed
endosome	IDA Inferred from Direct Assay more info	PubMed
integral to 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	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: cation-dependent mannose-6-phosphate receptor

Names: cation-dependent mannose-6-phosphate receptor; Mr 46,000 Man6PR; CD Man-6-P receptor; small mannose 6-phosphate receptor; 46-kDa mannose 6-phosphate receptor

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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)

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

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

Conserved Domains (1) summary

pfam02157
Location:1 – 152
Blast Score: 743

Man-6-P_recep; Mannose-6-phosphate receptor
NM_002355.3 → NP_002346.1 cation-dependent mannose-6-phosphate receptor isoform 1 precursor

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, OTTHUMP00000238493, ENST00000000412, OTTHUMT00000399130

Conserved Domains (1) summary

pfam02157
Location:1 – 277
Blast Score: 1441

Man-6-P_recep; Mannose-6-phosphate receptor

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

9092957..9102357, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

8873555..8882953, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC006581.16 (89323..98611)	None
genomic	CH471116.2	EAW88596.1
		EAW88597.1
		EAW88598.1
		EAW88599.1
genomic	X56253.1	None
genomic	X56254.1	CAB94715.1
genomic	X56255.1	None
genomic	X56256.1	None
genomic	X56257.1	None
mRNA	AA648974.1	None
mRNA	AK057556.1	None
mRNA	AK222792.1	BAD96512.1
mRNA	AK291143.1	BAF83832.1
mRNA	AK312689.1	BAG35569.1
mRNA	BC017111.1	AAH17111.1
mRNA	BC024206.1	AAH24206.1
mRNA	BG750588.1	None
mRNA	BM546062.1	None
mRNA	BU166950.1	None
mRNA	CR457412.1	CAG33693.1
mRNA	DC341018.1	None
mRNA	M16985.1	AAA59542.1
other-genetic	HQ447561.1	ADQ32047.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P20645.1	GenPept	UniProtKB/Swiss-Prot:P20645
Q53GY9	GenPept	UniProtKB/TrEMBL:Q53GY9
Q6I9U3	GenPept	UniProtKB/TrEMBL:Q6I9U3
Q96AH2	GenPept	UniProtKB/TrEMBL:Q96AH2