OSBL7_HUMAN
ID OSBL7_HUMAN Reviewed; 842 AA.
AC Q9BZF2; D3DTT6; Q6PIV6;
DT 11-FEB-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Oxysterol-binding protein-related protein 7;
DE Short=ORP-7;
DE Short=OSBP-related protein 7;
GN Name=OSBPL7; Synonyms=ORP7;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=11483621;
RA Lehto M., Laitinen S., Chinetti G., Johansson M., Ehnholm C., Staels B.,
RA Ikonen E., Olkkonen V.M.;
RT "The OSBP-related protein family in humans.";
RL J. Lipid Res. 42:1203-1213(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Blood, and Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=14593528; DOI=10.1007/s00441-003-0817-y;
RA Lehto M., Tienari J., Lehtonen S., Lehtonen E., Olkkonen V.M.;
RT "Subfamily III of mammalian oxysterol-binding protein (OSBP) homologues:
RT the expression and intracellular localization of ORP3, ORP6, and ORP7.";
RL Cell Tissue Res. 315:39-57(2004).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-171; SER-217; SER-226;
RP SER-256 AND SER-272, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:14593528}.
CC Endoplasmic reticulum membrane {ECO:0000269|PubMed:14593528}. Cell
CC membrane {ECO:0000269|PubMed:14593528}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BZF2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BZF2-2; Sequence=VSP_057227, VSP_057228;
CC -!- TISSUE SPECIFICITY: Expressed in epithelium of small and large
CC intestines (at protein level). Expressed in stomach, duodenum, jejunum,
CC ascending colon, spleen, thymus, lymph node, trachea and leukocytes.
CC {ECO:0000269|PubMed:14593528}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal lung and thymus.
CC {ECO:0000269|PubMed:14593528}.
CC -!- SIMILARITY: Belongs to the OSBP family. {ECO:0000305}.
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DR EMBL; AF323729; AAG53410.1; -; mRNA.
DR EMBL; AK289523; BAF82212.1; -; mRNA.
DR EMBL; AC003665; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471109; EAW94800.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94801.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94802.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94803.1; -; Genomic_DNA.
DR EMBL; BC028010; AAH28010.1; -; mRNA.
DR EMBL; BC065482; AAH65482.1; -; mRNA.
DR CCDS; CCDS11515.1; -. [Q9BZF2-1]
DR RefSeq; NP_665741.1; NM_145798.2. [Q9BZF2-1]
DR AlphaFoldDB; Q9BZF2; -.
DR SMR; Q9BZF2; -.
DR BioGRID; 125382; 15.
DR ELM; Q9BZF2; -.
DR IntAct; Q9BZF2; 1.
DR STRING; 9606.ENSP00000007414; -.
DR iPTMnet; Q9BZF2; -.
DR MetOSite; Q9BZF2; -.
DR PhosphoSitePlus; Q9BZF2; -.
DR BioMuta; OSBPL7; -.
DR DMDM; 20139132; -.
DR EPD; Q9BZF2; -.
DR jPOST; Q9BZF2; -.
DR MassIVE; Q9BZF2; -.
DR MaxQB; Q9BZF2; -.
DR PaxDb; Q9BZF2; -.
DR PeptideAtlas; Q9BZF2; -.
DR PRIDE; Q9BZF2; -.
DR ProteomicsDB; 79830; -. [Q9BZF2-1]
DR Antibodypedia; 30177; 48 antibodies from 20 providers.
DR DNASU; 114881; -.
DR Ensembl; ENST00000007414.8; ENSP00000007414.3; ENSG00000006025.12. [Q9BZF2-1]
DR Ensembl; ENST00000392507.7; ENSP00000376295.3; ENSG00000006025.12. [Q9BZF2-1]
DR Ensembl; ENST00000613735.4; ENSP00000479827.1; ENSG00000006025.12. [Q9BZF2-2]
DR GeneID; 114881; -.
DR KEGG; hsa:114881; -.
DR MANE-Select; ENST00000007414.8; ENSP00000007414.3; NM_145798.3; NP_665741.1.
DR UCSC; uc002ilx.2; human. [Q9BZF2-1]
DR CTD; 114881; -.
DR DisGeNET; 114881; -.
DR GeneCards; OSBPL7; -.
DR HGNC; HGNC:16387; OSBPL7.
DR HPA; ENSG00000006025; Low tissue specificity.
DR MIM; 606735; gene.
DR neXtProt; NX_Q9BZF2; -.
DR OpenTargets; ENSG00000006025; -.
DR PharmGKB; PA32831; -.
DR VEuPathDB; HostDB:ENSG00000006025; -.
DR eggNOG; KOG1737; Eukaryota.
DR GeneTree; ENSGT00940000157439; -.
DR HOGENOM; CLU_007105_4_1_1; -.
DR InParanoid; Q9BZF2; -.
DR OMA; SWVTQLR; -.
DR OrthoDB; 542090at2759; -.
DR PhylomeDB; Q9BZF2; -.
DR TreeFam; TF320922; -.
DR PathwayCommons; Q9BZF2; -.
DR Reactome; R-HSA-192105; Synthesis of bile acids and bile salts.
DR SignaLink; Q9BZF2; -.
DR BioGRID-ORCS; 114881; 18 hits in 1077 CRISPR screens.
DR ChiTaRS; OSBPL7; human.
DR GenomeRNAi; 114881; -.
DR Pharos; Q9BZF2; Tbio.
DR PRO; PR:Q9BZF2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BZF2; protein.
DR Bgee; ENSG00000006025; Expressed in mucosa of transverse colon and 133 other tissues.
DR ExpressionAtlas; Q9BZF2; baseline and differential.
DR Genevisible; Q9BZF2; HS.
DR GO; GO:0005776; C:autophagosome; IDA:BHF-UCL.
DR GO; GO:0005829; C:cytosol; IDA:BHF-UCL.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0097038; C:perinuclear endoplasmic reticulum; IDA:BHF-UCL.
DR GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
DR GO; GO:0015485; F:cholesterol binding; IDA:BHF-UCL.
DR GO; GO:0032934; F:sterol binding; IBA:GO_Central.
DR GO; GO:0015248; F:sterol transporter activity; IBA:GO_Central.
DR GO; GO:0006699; P:bile acid biosynthetic process; TAS:Reactome.
DR GO; GO:0071397; P:cellular response to cholesterol; IMP:BHF-UCL.
DR GO; GO:1901800; P:positive regulation of proteasomal protein catabolic process; IMP:BHF-UCL.
DR GO; GO:0010506; P:regulation of autophagy; NAS:ParkinsonsUK-UCL.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR037239; OSBP_sf.
DR InterPro; IPR000648; Oxysterol-bd.
DR InterPro; IPR018494; Oxysterol-bd_CS.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR041680; PH_8.
DR InterPro; IPR001849; PH_domain.
DR PANTHER; PTHR10972; PTHR10972; 1.
DR Pfam; PF01237; Oxysterol_BP; 1.
DR Pfam; PF15409; PH_8; 1.
DR SMART; SM00233; PH; 1.
DR SUPFAM; SSF144000; SSF144000; 1.
DR PROSITE; PS01013; OSBP; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cytoplasm; Endoplasmic reticulum;
KW Lipid transport; Lipid-binding; Membrane; Phosphoprotein;
KW Reference proteome; Transport.
FT CHAIN 1..842
FT /note="Oxysterol-binding protein-related protein 7"
FT /id="PRO_0000100377"
FT DOMAIN 47..142
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 1..28
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 330..369
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 14..28
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 339..369
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 171
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 217
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 226
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 256
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 272
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 343..357
FT /note="SEASTGQRRLHSLST -> RPGGQGDWCGERASS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_057227"
FT VAR_SEQ 358..842
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_057228"
FT VARIANT 148
FT /note="M -> I (in dbSNP:rs8076196)"
FT /id="VAR_060080"
FT VARIANT 156
FT /note="T -> I (in dbSNP:rs35437144)"
FT /id="VAR_053551"
FT VARIANT 169
FT /note="A -> E (in dbSNP:rs8071195)"
FT /id="VAR_060081"
SQ 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
