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Oxysterol-binding protein-related protein 7 (ORP-7) (OSBP-related protein 7)

 OSBL7_HUMAN             Reviewed;         842 AA.
Q9BZF2; D3DTT6; Q6PIV6;
11-FEB-2002, integrated into UniProtKB/Swiss-Prot.
01-JUN-2001, sequence version 1.
12-SEP-2018, entry version 135.
RecName: Full=Oxysterol-binding protein-related protein 7;
Short=ORP-7;
Short=OSBP-related protein 7;
Name=OSBPL7; Synonyms=ORP7;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=11483621;
Lehto M., Laitinen S., Chinetti G., Johansson M., Ehnholm C.,
Staels B., Ikonen E., Olkkonen V.M.;
"The OSBP-related protein family in humans.";
J. Lipid Res. 42:1203-1213(2001).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Cerebellum;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16625196; DOI=10.1038/nature04689;
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
"DNA sequence of human chromosome 17 and analysis of rearrangement in
the human lineage.";
Nature 440:1045-1049(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Blood, and Pancreas;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
PubMed=14593528; DOI=10.1007/s00441-003-0817-y;
Lehto M., Tienari J., Lehtonen S., Lehtonen E., Olkkonen V.M.;
"Subfamily III of mammalian oxysterol-binding protein (OSBP)
homologues: the expression and intracellular localization of ORP3,
ORP6, and ORP7.";
Cell Tissue Res. 315:39-57(2004).
[7]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-171; SER-217; SER-226;
SER-256 AND SER-272, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE
SCALE ANALYSIS].
TISSUE=Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
-!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
{ECO:0000269|PubMed:14593528}. Endoplasmic reticulum membrane
{ECO:0000269|PubMed:14593528}. Cell membrane
{ECO:0000269|PubMed:14593528}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q9BZF2-1; Sequence=Displayed;
Name=2;
IsoId=Q9BZF2-2; Sequence=VSP_057227, VSP_057228;
-!- TISSUE SPECIFICITY: Expressed in epithelium of small and large
intestines (at protein level). Expressed in stomach, duodenum,
jejunum, ascending colon, spleen, thymus, lymph node, trachea and
leukocytes. {ECO:0000269|PubMed:14593528}.
-!- DEVELOPMENTAL STAGE: Expressed in fetal lung and thymus.
{ECO:0000269|PubMed:14593528}.
-!- SIMILARITY: Belongs to the OSBP family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF323729; AAG53410.1; -; mRNA.
EMBL; AK289523; BAF82212.1; -; mRNA.
EMBL; AC003665; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471109; EAW94800.1; -; Genomic_DNA.
EMBL; CH471109; EAW94801.1; -; Genomic_DNA.
EMBL; CH471109; EAW94802.1; -; Genomic_DNA.
EMBL; CH471109; EAW94803.1; -; Genomic_DNA.
EMBL; BC028010; AAH28010.1; -; mRNA.
EMBL; BC065482; AAH65482.1; -; mRNA.
CCDS; CCDS11515.1; -. [Q9BZF2-1]
RefSeq; NP_665741.1; NM_145798.2. [Q9BZF2-1]
UniGene; Hs.463320; -.
ProteinModelPortal; Q9BZF2; -.
SMR; Q9BZF2; -.
BioGrid; 125382; 1.
ELM; Q9BZF2; -.
IntAct; Q9BZF2; 1.
STRING; 9606.ENSP00000007414; -.
iPTMnet; Q9BZF2; -.
PhosphoSitePlus; Q9BZF2; -.
BioMuta; OSBPL7; -.
DMDM; 20139132; -.
EPD; Q9BZF2; -.
MaxQB; Q9BZF2; -.
PaxDb; Q9BZF2; -.
PeptideAtlas; Q9BZF2; -.
PRIDE; Q9BZF2; -.
ProteomicsDB; 79830; -.
Ensembl; ENST00000007414; ENSP00000007414; ENSG00000006025. [Q9BZF2-1]
Ensembl; ENST00000392507; ENSP00000376295; ENSG00000006025. [Q9BZF2-1]
Ensembl; ENST00000613735; ENSP00000479827; ENSG00000006025. [Q9BZF2-2]
GeneID; 114881; -.
KEGG; hsa:114881; -.
UCSC; uc002ilx.2; human. [Q9BZF2-1]
CTD; 114881; -.
DisGeNET; 114881; -.
EuPathDB; HostDB:ENSG00000006025.11; -.
GeneCards; OSBPL7; -.
HGNC; HGNC:16387; OSBPL7.
HPA; HPA036076; -.
HPA; HPA053083; -.
MIM; 606735; gene.
neXtProt; NX_Q9BZF2; -.
OpenTargets; ENSG00000006025; -.
PharmGKB; PA32831; -.
eggNOG; KOG1737; Eukaryota.
eggNOG; ENOG410XP9E; LUCA.
GeneTree; ENSGT00760000119155; -.
HOGENOM; HOG000231072; -.
HOVERGEN; HBG058934; -.
InParanoid; Q9BZF2; -.
KO; K20463; -.
OMA; PERQEGH; -.
OrthoDB; EOG091G0DJB; -.
PhylomeDB; Q9BZF2; -.
TreeFam; TF320922; -.
Reactome; R-HSA-192105; Synthesis of bile acids and bile salts.
ChiTaRS; OSBPL7; human.
GenomeRNAi; 114881; -.
PRO; PR:Q9BZF2; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000006025; Expressed in 160 organ(s), highest expression level in fundus of stomach.
CleanEx; HS_OSBPL7; -.
ExpressionAtlas; Q9BZF2; baseline and differential.
Genevisible; Q9BZF2; HS.
GO; GO:0005776; C:autophagosome; IDA:BHF-UCL.
GO; GO:0005829; C:cytosol; IDA:BHF-UCL.
GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
GO; GO:0097038; C:perinuclear endoplasmic reticulum; IDA:BHF-UCL.
GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
GO; GO:0015485; F:cholesterol binding; IDA:BHF-UCL.
GO; GO:0015248; F:sterol transporter activity; TAS:Reactome.
GO; GO:0006699; P:bile acid biosynthetic process; TAS:Reactome.
GO; GO:0071397; P:cellular response to cholesterol; IMP:BHF-UCL.
GO; GO:1901800; P:positive regulation of proteasomal protein catabolic process; IMP:BHF-UCL.
GO; GO:0010506; P:regulation of autophagy; NAS:ParkinsonsUK-UCL.
Gene3D; 2.30.29.30; -; 1.
InterPro; IPR037239; OSBP_sf.
InterPro; IPR000648; Oxysterol-bd.
InterPro; IPR018494; Oxysterol-bd_CS.
InterPro; IPR011993; PH-like_dom_sf.
InterPro; IPR001849; PH_domain.
PANTHER; PTHR10972; PTHR10972; 1.
Pfam; PF01237; Oxysterol_BP; 1.
SMART; SM00233; PH; 1.
SUPFAM; SSF144000; SSF144000; 1.
PROSITE; PS01013; OSBP; 1.
PROSITE; PS50003; PH_DOMAIN; 1.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Complete proteome; Cytoplasm;
Endoplasmic reticulum; Lipid transport; Lipid-binding; Membrane;
Phosphoprotein; Polymorphism; Reference proteome; Transport.
CHAIN 1 842 Oxysterol-binding protein-related protein
7.
/FTId=PRO_0000100377.
DOMAIN 47 142 PH. {ECO:0000255|PROSITE-
ProRule:PRU00145}.
MOD_RES 171 171 Phosphothreonine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 217 217 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 226 226 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 256 256 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 272 272 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
VAR_SEQ 343 357 SEASTGQRRLHSLST -> RPGGQGDWCGERASS (in
isoform 2). {ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_057227.
VAR_SEQ 358 842 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_057228.
VARIANT 148 148 M -> I (in dbSNP:rs8076196).
/FTId=VAR_060080.
VARIANT 156 156 T -> I (in dbSNP:rs35437144).
/FTId=VAR_053551.
VARIANT 169 169 A -> E (in dbSNP:rs8071195).
/FTId=VAR_060081.
SEQUENCE 842 AA; 95432 MW; 6DE6ED596CEE6FE3 CRC64;
MDFQERDPPF LPESAQSSKP SSAQQASELW EVVEEPRVRL GTEGVMPERQ EGHLLKKRKW
PLKGWHKRYF VLEDGILHYA TTRQDITKGK LHGSIDVRLS VMSINKKAQR IDLDTEDNIY
HLKIKSQDLF QSWVAQLRAH RLAHRLDMPR GSLPSTAHRK VPGAQLPTAA TASALPGLGP
REKVSSWLRD SDGLDRCSHE LSECQGKLQE LHRLLQSLES LHRIPSAPVI PTHQASVTTE
RPKKGKRTSR MWCTQSFAKD DTIGRVGRLH GSVPNLSRYL ESRDSSGTRG LPPTDYAHLQ
RSFWALAQKV HSSLSSVLAA LTMERDQLRD MHQGSELSRM GVSEASTGQR RLHSLSTSSD
TTADSFSSLN PEEQEALYMK GRELTPQLSQ TSILSLADSH TEFFDACEVL LSASSSENEG
SEEEESCTSE ITTSLSEEML DLRGAERCQK GGCVPGRPMG PPRRRCLPAA SGPGADVSLW
NILRNNIGKD LSKVSMPVQL NEPLNTLQRL CEELEYSSLL DQASRIADPC ERMVYIAAFA
VSAYSSTYHR AGCKPFNPVL GETYECERPD RGFRFISEQV SHHPPISACH AESENFAFWQ
DMKWKNKFWG KSLEIVPVGT VNVSLPRFGD HFEWNKVTSC IHNVLSGQRW IEHYGEVLIR
NTQDSSCHCK ITFCKAKYWS SNVHEVQGAV LSRSGRVLHR LFGKWHEGLY RGPTPGGQCI
WKPNSMPPDH ERNFGFTQFA LELNELTAEL KRSLPSTDTR LRPDQRYLEE GNIQAAEAQK
RRIEQLQRDR RKVMEENNIV HQARFFRRQT DSSGKEWWVT NNTYWRLRAE PGYGNMDGAV
LW


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