Reviewed,
UniProtKB/Swiss-Prot O60664 (M6PBP_HUMAN)
Last modified
November 25, 2008.
Version 78.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Mannose-6-phosphate receptor-binding protein 1 Alternative name(s): Cargo selection protein TIP47 47 kDa mannose 6-phosphate receptor-binding protein Short name=47 kDa MPR-binding protein Placental protein 17 Short name=PP17 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 434 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network. |
| Subunit structure | Interacts with the cytoplasmic domains of both M6PR and IGF2R. Homo-oligomer. Isoform A also exists as a homodimer (known as PP17C). |
| Subcellular location | Cytoplasm. Endosome membrane; Peripheral membrane protein; Cytoplasmic sidePotential. Lipid droplet membrane; Peripheral membrane protein; Cytoplasmic sidePotential. Note= Membrane associated on endosomes. Detected in the envelope and the core of lipid bodies and in lipid sails. |
| Sequence similarities | Belongs to the perilipin family. |
Ontologies
Keywords | |
|---|---|
| Biological process | Transport |
| Cellular component | Cytoplasm Endosome Lipid droplet Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
Gene Ontology (GO) | |
| Biological process | vesicle-mediated transport Ref.1 Traceable author statement. Source: ProtInc |
| Cellular component | Golgi apparatus Ref.1 Traceable author statement. Source: ProtInc endosome membraneInferred from electronic annotation. Source: UniProtKB-SubCell monolayer-surrounded lipid storage body outer lipid monolayerInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform B (identifier: O60664-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform A (identifier: O60664-2) The sequence of this isoform differs from the canonical sequence as follows: 1-183: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 434 | 434 | Mannose-6-phosphate receptor-binding protein 1 | PRO_0000099890 | |||||
Natural variations | |||||||||
| Alternative sequence | 1 – 183 | 183 | Missing in isoform A. | VSP_004664 | |||||
| Natural variant | 56 | 1 | I → V: dbSNP rs8289. | VAR_022780 | |||||
| Natural variant | 275 | 1 | A → V: dbSNP rs9973235. | VAR_024559 | |||||
Experimental info | |||||||||
| Sequence conflict | 77 | 1 | G → W in AAD11622. Ref.2 | ||||||
| Sequence conflict | 109 – 111 | 3 | ILQ → MLR in AAD11622. Ref.2 | ||||||
| Sequence conflict | 321 | 1 | Missing in BAD96774. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "TIP47: a cargo selection device for mannose 6-phosphate receptor trafficking." Diaz E., Pfeffer S.R. Cell 93:433-443(1998) [PubMed: 9590177] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B), VARIANT VAL-56, FUNCTION, INTERACTION WITH M6PR AND IGF2R, HOMOOLIGOMERIZATION, SUBCELLULAR LOCATION. |
| [2] | "Cloning and sequence analysis of cDNAs encoding human placental tissue protein 17 (PP17) variants." Than N.G., Sumegi B., Than G.N., Kispal G., Bohn H. Eur. J. Biochem. 258:752-757(1998) [PubMed: 9874244] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), VARIANT VAL-56. Tissue: Placenta. |
| [3] | "Cloning and sequencing of human oncodevelopmental soluble placental tissue protein 17 (PP17): homology with adipophilin and the mouse adipose differentiation-related protein." Than N.G., Sumegi B., Than G.N., Kispal G., Bohn H. Tumor Biol. 20:184-192(1999) [PubMed: 10393528] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), VARIANT VAL-56. Tissue: Placenta. |
| [4] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B). |
| [5] | Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B). |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B), VARIANT VAL-56. Tissue: Colon and Muscle. |
| [7] | "Purification and characterization of two new soluble placental tissue proteins (PP13 and PP17)." Bohn H., Kraus W., Winckler W. Oncodev. Biol. Med. 4:343-350(1983) [PubMed: 6856484] [Abstract] Cited for: CHARACTERIZATION. Tissue: Placenta. |
| [8] | "Spatial integration of TIP47 and adipophilin in macrophage lipid bodies." Robenek H., Lorkowski S., Schnoor M., Troyer D. J. Biol. Chem. 280:5789-5794(2005) [PubMed: 15545278] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF057140 mRNA. Translation: AAC39751.1. AF055574 mRNA. Translation: AAD11622.1. AF051314 mRNA. Translation: AAD11619.1. AF051315 mRNA. Translation: AAD11620.1. BT007235 mRNA. Translation: AAP35899.1. AK223054 mRNA. Translation: BAD96774.1. BC001590 mRNA. Translation: AAH01590.1. BC005818 mRNA. Translation: AAH05818.1. BC007566 mRNA. Translation: AAH07566.1. BC019278 mRNA. Translation: AAH19278.1. | |
| RefSeq | NP_005808.2. |
| UniGene | Hs.140452 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O60664. |
PTM databases | |
| PhosphoSite | O60664. |
2-D gel databases | |
| REPRODUCTION-2DPAGE | IPI00303882. |
Genome annotation databases | |
| Ensembl | ENSG00000105355. Homo sapiens. [Contig view] |
| GeneID | 10226. |
| KEGG | hsa:10226. |
Organism-specific databases | |
| H-InvDB | HIX0014673. |
| HGNC | HGNC:16893. M6PRBP1. |
| HPA | HPA006427. |
| MIM | 602702. gene. |
| PharmGKB | PA134892761. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | O60664. |
| HOVERGEN | O60664. |
Gene expression databases | |
| ArrayExpress | O60664. |
| CleanEx | HS_M6PRBP1. |
| GermOnline | ENSG00000105355. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004279. Perilipin. [Graphical view] |
| PANTHER | PTHR14024. Perilipin. 1 hit. |
| Pfam | PF03036. Perilipin. 1 hit. [Graphical view] |
| PIRSF | PIRSF036881. PAT. 1 hit. |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB01279. Galsulfase. DB01271. Idursulfase. |
| LinkHub | O60664. |
| NextBio | 38722. |
| SOURCE | Search... |
Entry information
| Entry name | M6PBP_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O60664 Secondary accession number(s): Q53G77 Q9UP92 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


