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 27-MAR-2024, entry version 167. 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 GlyGen; Q9BZF2; 2 sites, 1 O-linked glycan (2 sites). 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; 9606-ENSP00000007414; -. DR PeptideAtlas; Q9BZF2; -. DR ProteomicsDB; 79830; -. [Q9BZF2-1] DR Pumba; Q9BZF2; -. DR Antibodypedia; 30177; 66 antibodies from 20 providers. DR DNASU; 114881; -. DR Ensembl; ENST00000007414.8; ENSP00000007414.3; ENSG00000006025.13. [Q9BZF2-1] DR Ensembl; ENST00000613735.4; ENSP00000479827.1; ENSG00000006025.13. [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 AGR; HGNC:16387; -. 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; TTDPCER; -. DR OrthoDB; 960at2759; -. 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 1156 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 135 other cell types or tissues. DR ExpressionAtlas; Q9BZF2; baseline and differential. 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: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: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 CDD; cd13287; PH_ORP3_ORP6_ORP7; 1. DR Gene3D; 2.40.160.120; -; 1. DR Gene3D; 3.30.70.3490; -; 1. DR Gene3D; 2.30.29.30; Pleckstrin-homology domain (PH domain)/Phosphotyrosine-binding domain (PTB); 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; OXYSTEROL-BINDING PROTEIN-RELATED; 1. DR PANTHER; PTHR10972:SF85; OXYSTEROL-BINDING PROTEIN-RELATED PROTEIN 7; 1. DR Pfam; PF01237; Oxysterol_BP; 1. DR Pfam; PF15409; PH_8; 1. DR SMART; SM00233; PH; 1. DR SUPFAM; SSF144000; Oxysterol-binding protein-like; 1. DR SUPFAM; SSF50729; PH domain-like; 1. DR PROSITE; PS01013; OSBP; 1. DR PROSITE; PS50003; PH_DOMAIN; 1. DR Genevisible; Q9BZF2; HS. 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 //