Reviewed, UniProtKB/Swiss-Prot Q0VD83 (AB48R_HUMAN)

Names and origin

Protein names

Recommended name:
    Apolipoprotein B-100 receptor
Alternative name(s):
    Apolipoprotein B-48 receptor
      Short name=Apolipoprotein B48 receptor
      Short name=apoB-48R

Gene names

Name:

APOB48R

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1088 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL). Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG-VLDL, and trypsinized (tryp) VLDL devoid of APOE in vitro in macrophages. Ref.1 Ref.6 Ref.8
Subunit structure	Homodimer.
Subcellular location	Cell membrane; Peripheral membrane protein. Note: Binds monocyte-macrophage membrane. Thought to be anchored in the membrane through an interaction with an integral membrane protein. Ref.4 Ref.5
Tissue specificity	Expressed in peripheral blood leukocytes > bone marrow = spleen > lymph node, and only faintly visible in appendix and thymus. Expressed in the brain, heart, kidney, liver, lung, pancreas, and placenta. Expressed primarily by reticuloendothelial cells: monocytes, macrophages, and endothelial cells. Expressed in atherosclerotic lesion foam cells. Ref.1 Ref.4
Induction	Suppressed significantly by PPARA and PPARG in THP-1 and blood-borne monocyte-macrophages. Decreased after pitavastatin treatment in peripheral blood macrophages and remnant lipoprotein (RLP)-induced foam cell formation. Ref.8 Ref.7
Post-translational modification	There are 2 forms in macrophages, the membrane-binding proteins 200 kDa (MBP 200) and 235 kDa (MBP 235), that can be reduced into a single active ligand-binding species with intermediate mobility (MBP 200R).
Involvement in disease	Genetic variations in APOB48R may be a cause of susceptibility to hypercholesterolemia.

Ontologies

Keywords
Biological process	Cholesterol metabolism Lipid metabolism Lipid transport Steroid metabolism Transport
Cellular component	Cell membrane Chylomicron LDL Membrane VLDL
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Atherosclerosis
Molecular function	Receptor
PTM	Phosphoprotein
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Biological process	cholesterol metabolic process Inferred from electronic annotation. Source: UniProtKB-KW lipid transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	chylomicron Inferred from electronic annotation. Source: UniProtKB-KW extrinsic to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell low-density lipoprotein particle Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-KW very-low-density lipoprotein particle Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q0VD83-1)

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 2 (identifier: Q0VD83-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-462: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q0VD83-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1047-1088: SPLRHDGTPVPARRRPLGHGFGLAHPGMMQELQARLGRPKPQ → RWEDRLRPGVRDQPGQHSKIPIF

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1088	1088	Apolipoprotein B-100 receptor		PRO_0000327263
Regions
	Compositional bias	158 – 961	804	Glu-rich
Amino acid modifications
	Modified residue	585	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 462	462	Missing in isoform 2.		VSP_032733
	Alternative sequence	1047 – 1088	42	SPLRH…RPKPQ → RWEDRLRPGVRDQPGQHSKI PIF in isoform 3.		VSP_032734
	Natural variant	419	1	A → P Associated with susceptibility to hypercholesterolemia. dbSNP rs180743. Ref.9		VAR_042432
Experimental info
	Sequence conflict	340	1	A → S in AAF76255. Ref.1
	Sequence conflict	340	1	A → S in AAF76256. Ref.1
	Sequence conflict	381	1	E → Q in AAF76255. Ref.1
	Sequence conflict	381	1	E → Q in AAF76256. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 5, 2006. Version 1. Checksum: 18D3B4283AF65D58	FASTA	1,088	114,820
	10 20 30 40 50 60 MDFLRLYLPG LHQALRGALD SLGTFVSYLL GDAVPTVERE AQAAEELGVV AVGKTGKIVE 70 80 90 100 110 120 EEAQEDLEGL RGSQNEGAGR LRGPGDDRRH EVGSSAVEQT WGWGDGSSHG SQAERQDSGA 130 140 150 160 170 180 GETAKAARCQ EPSAHLEARK KSKAGSGACQ DRSGQAQERQ ESHEQEVNRE ERLRSWEQEE 190 200 210 220 230 240 EEEEVRAREP GMARGAESEW TWHGETEGKA GAVGPKAAGD NREMEQGVRE ADAGETEEPG 250 260 270 280 290 300 AEGAGKGEEV VVVEKACEST RAWGTWGPGA EPEDWGILGR EEARTTPGRE EARAILDGEE 310 320 330 340 350 360 ARTISGGEEA ETASGGEEAE TASGGEEAGT ASGGEEAGIA SGGEAGTASG GEEAGTASGG 370 380 390 400 410 420 DEAWTTSGKE EADLLGVRQT EYGAVPGERL LEATGKVWVL EEEGDEEREA EVSPFPKQAQ 430 440 450 460 470 480 VLGTERTEEA AESQTAGREA VGGQEAGESF EGQVDLRGKE AEMRQDLGIR ADRARMEELV 490 500 510 520 530 540 QAEEAQEERG SSRDPVAELP SDGEAEGTAD LEATPEARPE EELTGEESEA AQTSCGLLGV 550 560 570 580 590 600 EWGGLTHSVT KGQGPELMGG AQTPTKQPEE REAGEVELMG VLALSKEEQE RSLEAGPRHA 610 620 630 640 650 660 GSVKPEASEA FPGAWENRTR KDMERGNTQE DAADGEQREE EETAGGQTLA AEAEGDRESE 670 680 690 700 710 720 LSEVPEAGGE GLTTQDAGCG TEEGEASVSE NQELDGSTGA DAGPCPSLGE AYARETEDEE 730 740 750 760 770 780 AEADRTSRRG WRLQAVAVGL PDREDAQTGS VAAGIMGGDV VPHISAAGAG EALEGALGQG 790 800 810 820 830 840 WDSKEKEEAA AGEHAGGQEF GLEGSAEEEV TGRGSQVEAF ESREGGPWGG RVEAEESAGA 850 860 870 880 890 900 EDSCGLDPAG SQTARAEGMG AMVEAGGLLE KWTLLEEEAV GWQEREQRED SEGRCGDYHP 910 920 930 940 950 960 EGEAPRLLDA EGLMVTGGRR AEAKETEPES LEHVRGQEEQ PTHQAPAEAA PESVGEAETA 970 980 990 1000 1010 1020 EAMGSARGGA ANSWSEAPLP GSLLDVSVPR SRVHLSRSSS QRRSRPSFRR TPAWEQQEEP 1030 1040 1050 1060 1070 1080 PAPNPPEEEL SAPEQRPLQL EEPLEPSPLR HDGTPVPARR RPLGHGFGLA HPGMMQELQA RLGRPKPQ
	Isoform 2. Checksum: DE29BD00F80513FD	FASTA	626	66,307
	10 20 30 40 50 60 MRQDLGIRAD RARMEELVQA EEAQEERGSS RDPVAELPSD GEAEGTADLE ATPEARPEEE 70 80 90 100 110 120 LTGEESEAAQ TSCGLLGVEW GGLTHSVTKG QGPELMGGAQ TPTKQPEERE AGEVELMGVL 130 140 150 160 170 180 ALSKEEQERS LEAGPRHAGS VKPEASEAFP GAWENRTRKD MERGNTQEDA ADGEQREEEE 190 200 210 220 230 240 TAGGQTLAAE AEGDRESELS EVPEAGGEGL TTQDAGCGTE EGEASVSENQ ELDGSTGADA 250 260 270 280 290 300 GPCPSLGEAY ARETEDEEAE ADRTSRRGWR LQAVAVGLPD REDAQTGSVA AGIMGGDVVP 310 320 330 340 350 360 HISAAGAGEA LEGALGQGWD SKEKEEAAAG EHAGGQEFGL EGSAEEEVTG RGSQVEAFES 370 380 390 400 410 420 REGGPWGGRV EAEESAGAED SCGLDPAGSQ TARAEGMGAM VEAGGLLEKW TLLEEEAVGW 430 440 450 460 470 480 QEREQREDSE GRCGDYHPEG EAPRLLDAEG LMVTGGRRAE AKETEPESLE HVRGQEEQPT 490 500 510 520 530 540 HQAPAEAAPE SVGEAETAEA MGSARGGAAN SWSEAPLPGS LLDVSVPRSR VHLSRSSSQR 550 560 570 580 590 600 RSRPSFRRTP AWEQQEEPPA PNPPEEELSA PEQRPLQLEE PLEPSPLRHD GTPVPARRRP 610 620 LGHGFGLAHP GMMQELQARL GRPKPQ
	Isoform 3. Checksum: 39C52425302B1EE9	FASTA	1,069	112,987
	10 20 30 40 50 60 MDFLRLYLPG LHQALRGALD SLGTFVSYLL GDAVPTVERE AQAAEELGVV AVGKTGKIVE 70 80 90 100 110 120 EEAQEDLEGL RGSQNEGAGR LRGPGDDRRH EVGSSAVEQT WGWGDGSSHG SQAERQDSGA 130 140 150 160 170 180 GETAKAARCQ EPSAHLEARK KSKAGSGACQ DRSGQAQERQ ESHEQEVNRE ERLRSWEQEE 190 200 210 220 230 240 EEEEVRAREP GMARGAESEW TWHGETEGKA GAVGPKAAGD NREMEQGVRE ADAGETEEPG 250 260 270 280 290 300 AEGAGKGEEV VVVEKACEST RAWGTWGPGA EPEDWGILGR EEARTTPGRE EARAILDGEE 310 320 330 340 350 360 ARTISGGEEA ETASGGEEAE TASGGEEAGT ASGGEEAGIA SGGEAGTASG GEEAGTASGG 370 380 390 400 410 420 DEAWTTSGKE EADLLGVRQT EYGAVPGERL LEATGKVWVL EEEGDEEREA EVSPFPKQAQ 430 440 450 460 470 480 VLGTERTEEA AESQTAGREA VGGQEAGESF EGQVDLRGKE AEMRQDLGIR ADRARMEELV 490 500 510 520 530 540 QAEEAQEERG SSRDPVAELP SDGEAEGTAD LEATPEARPE EELTGEESEA AQTSCGLLGV 550 560 570 580 590 600 EWGGLTHSVT KGQGPELMGG AQTPTKQPEE REAGEVELMG VLALSKEEQE RSLEAGPRHA 610 620 630 640 650 660 GSVKPEASEA FPGAWENRTR KDMERGNTQE DAADGEQREE EETAGGQTLA AEAEGDRESE 670 680 690 700 710 720 LSEVPEAGGE GLTTQDAGCG TEEGEASVSE NQELDGSTGA DAGPCPSLGE AYARETEDEE 730 740 750 760 770 780 AEADRTSRRG WRLQAVAVGL PDREDAQTGS VAAGIMGGDV VPHISAAGAG EALEGALGQG 790 800 810 820 830 840 WDSKEKEEAA AGEHAGGQEF GLEGSAEEEV TGRGSQVEAF ESREGGPWGG RVEAEESAGA 850 860 870 880 890 900 EDSCGLDPAG SQTARAEGMG AMVEAGGLLE KWTLLEEEAV GWQEREQRED SEGRCGDYHP 910 920 930 940 950 960 EGEAPRLLDA EGLMVTGGRR AEAKETEPES LEHVRGQEEQ PTHQAPAEAA PESVGEAETA 970 980 990 1000 1010 1020 EAMGSARGGA ANSWSEAPLP GSLLDVSVPR SRVHLSRSSS QRRSRPSFRR TPAWEQQEEP 1030 1040 1050 1060 PAPNPPEEEL SAPEQRPLQL EEPLEPRWED RLRPGVRDQP GQHSKIPIF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A macrophage receptor for apolipoprotein B48: cloning, expression, and atherosclerosis." Brown M.L., Ramprasad M.P., Umeda P.K., Tanaka A., Kobayashi Y., Watanabe T., Shimoyamada H., Kuo W.-L., Li R., Song R., Bradley W.A., Gianturco S.H. Proc. Natl. Acad. Sci. U.S.A. 97:7488-7493(2000) [PubMed: 10852956] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 814-821; 857-868 AND 910-919, FUNCTION, TISSUE SPECIFICITY. Tissue: Monocytic leukemia and Placenta.
[2]	"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] (ISOFORMS 1 AND 2).
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 756-1088 (ISOFORM 3). Tissue: Placenta.
[4]	"Antipeptide antibodies reveal interrelationships of MBP 200 and MBP 235: unique apoB-specific receptors for triglyceride-rich lipoproteins on human monocyte-macrophages." Bradley W.A., Brown M.L., Ramprasad M.P., Li R., Song R., Gianturco S.H. J. Lipid Res. 40:744-752(1999) [PubMed: 10191299] [Abstract] Cited for: PROTEIN SEQUENCE OF 910-919, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, POST-TRANSLATIONAL MODIFICATION.
[5]	"Human THP-1 monocyte-macrophage membrane binding proteins: distinct receptor(s) for triglyceride-rich lipoproteins." Ramprasad M.P., Li R., Bradley W.A., Gianturco S.H. Biochemistry 34:9126-9135(1995) [PubMed: 7619811] [Abstract] Cited for: SUBCELLULAR LOCATION, POST-TRANSLATIONAL MODIFICATION.
[6]	"Apolipoprotein B-48 or its apolipoprotein B-100 equivalent mediates the binding of triglyceride-rich lipoproteins to their unique human monocyte-macrophage receptor." Gianturco S.H., Ramprasad M.P., Song R., Li R., Brown M.L., Bradley W.A. Arterioscler. Thromb. Vasc. Biol. 18:968-976(1998) [PubMed: 9633939] [Abstract] Cited for: FUNCTION.
[7]	"PPAR(alpha) and PPAR(gamma) activators suppress the monocyte-macrophage apoB-48 receptor." Haraguchi G., Kobayashi Y., Brown M.L., Tanaka A., Isobe M., Gianturco S.H., Bradley W.A. J. Lipid Res. 44:1224-1231(2003) [PubMed: 12700342] [Abstract] Cited for: INDUCTION.
[8]	"Pitavastatin inhibits remnant lipoprotein-induced macrophage foam cell formation through ApoB48 receptor-dependent mechanism." Kawakami A., Tani M., Chiba T., Yui K., Shinozaki S., Nakajima K., Tanaka A., Shimokado K., Yoshida M. Arterioscler. Thromb. Vasc. Biol. 25:424-429(2005) [PubMed: 15591219] [Abstract] Cited for: FUNCTION, INDUCTION.
[9]	"Association of nucleotide variations in the apolipoprotein B48 receptor gene (APOB48R) with hypercholesterolemia." Fujita Y., Ezura Y., Bujo H., Nakajima T., Takahashi K., Kamimura K., Iino Y., Katayama Y., Saito Y., Emi M. J. Hum. Genet. 50:203-209(2005) [PubMed: 15830122] [Abstract] Cited for: ASSOCIATION OF VARIANT PRO-419 WITH SUSCEPTIBILITY TO HYPERCHOLESTEROLEMIA.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF141332 mRNA. Translation: AAF76255.1. AF141333 Genomic DNA. Translation: AAF76256.1. BC119786 mRNA. Translation: AAI19787.1. BC119788 mRNA. Translation: AAI19789.1. AK075085 mRNA. No translation available.
IPI	IPI00399183. IPI00889551. IPI00889754.
RefSeq	NP_061160.2.
UniGene	Hs.200333 Hs.628393
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q0VD83.
PTM databases
PhosphoSite	Q0VD83.
Proteomic databases
PRIDE	Q0VD83.
Genome annotation databases
Ensembl	ENST00000431282; ENSP00000416094; ENSG00000184730; Homo sapiens. [Genome view]
GeneID	55911.
KEGG	hsa:55911.
UCSC	uc002dqb.1. human.
Organism-specific databases
CTD	55911.
GeneCards	GC16P028413.
MIM	605220. gene.
Phylogenomic databases
HOGENOM	Q0VD83.
HOVERGEN	Q0VD83.
Gene expression databases
ArrayExpress	Q0VD83.
Bgee	Q0VD83.
Genevestigator	Q0VD83.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	61302.
SOURCE	Search...

Entry information

Entry name

AB48R_HUMAN

Accession

Primary (citable) accession number: Q0VD83
Secondary accession number(s): Q0VD81, Q8NC15, Q9NPJ9

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 8, 2008
Last sequence update:	September 5, 2006
Last modified:	November 24, 2009
This is version 32 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.