Reviewed, UniProtKB/Swiss-Prot O60664 (M6PBP_HUMAN)

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

Name:	M6PRBP1
Synonyms:	TIP47

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 membrane Inferred from electronic annotation. Source: UniProtKB-SubCell monolayer-surrounded lipid storage body outer lipid monolayer Inferred 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

	Sequence		Length	Mass (Da)
	Isoform B [UniParc]. Last modified July 5, 2005. Version 2. Checksum: BEC87223AC4CD0A5	FASTA	434	47,047
	10 20 30 40 50 60 MSADGAEADG STQVTVEEPV QQPSVVDRVA SMPLISSTCD MVSAAYASTK ESYPHIKTVC 70 80 90 100 110 120 DAAEKGVRTL TAAAVSGAQP ILSKLEPQIA SASEYAHRGL DKLEENLPIL QQPTEKVLAD 130 140 150 160 170 180 TKELVSSKVS GAQEMVSSAK DTVATQLSEA VDATRGAVQS GVDKTKSVVT GGVQSVMGSR 190 200 210 220 230 240 LGQMVLSGVD TVLGKSEEWA DNHLPLTDAE LARIATSLDG FDVASVQQQR QEQSYFVRLG 250 260 270 280 290 300 SLSERLRQHA YEHSLGKLRA TKQRAQEALL QLSQALSLME TVKQGVDQKL VEGQEKLHQM 310 320 330 340 350 360 WLSWNQKQLQ GPEKEPPKPE QVESRALTMF RDIAQQLQAT CTSLGSSIQG LPTNVKDQVQ 370 380 390 400 410 420 QARRQVEDLQ ATFSSIHSFQ DLSSSILAQS RERVASAREA LDHMVEYVAQ NTPVTWLVGP 430 FAPGITEKAP EEKK
	Isoform A [UniParc]. Checksum: E50027D1AE8AC939		251	28,130
	10 20 30 40 50 60 MVLSGVDTVL GKSEEWADNH LPLTDAELAR IATSLDGFDV ASVQQQRQEQ SYFVRLGSLS 70 80 90 100 110 120 ERLRQHAYEH SLGKLRATKQ RAQEALLQLS QALSLMETVK QGVDQKLVEG QEKLHQMWLS 130 140 150 160 170 180 WNQKQLQGPE KEPPKPEQVE SRALTMFRDI AQQLQATCTS LGSSIQGLPT NVKDQVQQAR 190 200 210 220 230 240 RQVEDLQATF SSIHSFQDLS SSILAQSRER VASAREALDH MVEYVAQNTP VTWLVGPFAP 250 GITEKAPEEK K

References

	« Hide 'large scale' referencesShow '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
EMBLGenBankDDBJ	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 , Q9BS03, Q9UBD7, Q9UP92

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	July 5, 2005
Last modified:	November 25, 2008
This is version 78 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)