Q9H4L5 (OSBL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 101.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Oxysterol-binding protein-related protein 3 Short name=ORP-3 Short name=OSBP-related protein 3 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference 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 | 887 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Tissue specificity | Isoform 1a, isoform 1b, isoform 1c and isoform 1d are highly expressed in brain, bone marrow, colon, kidney, lung, skeletal muscle, spleen, thymus and thyroid. Not expressed in heart and liver. Isoform 2a, isoform 2b, isoform 2c and isoform 2d are expressed in brain, bone marrow, kidney, skeletal muscle, spleen, thymus and thyroid. Not expressed in heart, liver and lung. |
| Sequence similarities | Belongs to the OSBP family. Contains 1 PH domain. |
| Sequence caution | The sequence BAA31679.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Lipid transport Transport |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | Lipid-binding |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | lipid transport Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | cytosol Inferred from direct assay PubMed 14593528. Source: BHF-UCL nuclear membraneInferred from direct assay PubMed 14593528. Source: BHF-UCL perinuclear endoplasmic reticulumInferred from direct assay PubMed 14593528. Source: BHF-UCL plasma membraneInferred from direct assay PubMed 14593528. Source: BHF-UCL |
| Molecular_function | cholesterol binding Inferred from direct assay PubMed 17428193. Source: BHF-UCL phospholipid bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ORF | Q9Q2G4 | 5 | EBI-1051317,EBI-6248094 | From a different organism. |
Alternative products
| This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1a (identifier: Q9H4L5-1) 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 1b (identifier: Q9H4L5-2) The sequence of this isoform differs from the canonical sequence as follows: 259-289: Missing. | ||||||
| Isoform 1c (identifier: Q9H4L5-3) The sequence of this isoform differs from the canonical sequence as follows: 387-422: Missing. | ||||||
| Isoform 1d (identifier: Q9H4L5-4) The sequence of this isoform differs from the canonical sequence as follows: 259-289: Missing. 387-422: Missing. | ||||||
| Isoform 2a (identifier: Q9H4L5-5) The sequence of this isoform differs from the canonical sequence as follows: 584-631: YVAAFAISAY...FQFFSEQVSH → RSQPSLATVQ...SSAWLFPVTL 632-887: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 2b (identifier: Q9H4L5-6) The sequence of this isoform differs from the canonical sequence as follows: 259-289: Missing. 584-631: YVAAFAISAY...FQFFSEQVSH → RSQPSLATVQ...SSAWLFPVTL 632-887: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 2c (identifier: Q9H4L5-7) The sequence of this isoform differs from the canonical sequence as follows: 387-422: Missing. 584-631: YVAAFAISAY...FQFFSEQVSH → RSQPSLATVQ...SSAWLFPVTL 632-887: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 2d (identifier: Q9H4L5-8) The sequence of this isoform differs from the canonical sequence as follows: 259-289: Missing. 387-422: Missing. 584-631: YVAAFAISAY...FQFFSEQVSH → RSQPSLATVQ...SSAWLFPVTL 632-887: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 887 | 887 | Oxysterol-binding protein-related protein 3 | PRO_0000100371 | |||||
Regions | |||||||||
| Domain | 51 – 146 | 96 | PH | ||||||
Amino acid modifications | |||||||||
| Modified residue | 16 | 1 | Phosphoserine Ref.13 | ||||||
| Modified residue | 34 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 251 | 1 | Phosphoserine Ref.13 | ||||||
| Modified residue | 304 | 1 | Phosphoserine Ref.13 Ref.15 Ref.16 | ||||||
| Modified residue | 372 | 1 | Phosphoserine Ref.13 Ref.16 | ||||||
| Modified residue | 410 | 1 | Phosphoserine Ref.12 Ref.13 Ref.14 Ref.16 | ||||||
| Modified residue | 437 | 1 | Phosphoserine Ref.11 Ref.12 Ref.14 | ||||||
Natural variations | |||||||||
| Alternative sequence | 259 – 289 | 31 | Missing in isoform 1b, isoform 1d, isoform 2b and isoform 2d. | VSP_008219 | |||||
| Alternative sequence | 387 – 422 | 36 | Missing in isoform 1c, isoform 1d, isoform 2c and isoform 2d. | VSP_008220 | |||||
| Alternative sequence | 584 – 631 | 48 | YVAAF…EQVSH → RSQPSLATVQPRSPSHEAIH GAHQRDSPCSLRFHFDCSVN RFITQSCLASSAWLFPVTL in isoform 2a, isoform 2b, isoform 2c and isoform 2d. | VSP_008221 | |||||
| Alternative sequence | 632 – 887 | 256 | Missing in isoform 2a, isoform 2b, isoform 2c and isoform 2d. | VSP_008222 | |||||
| Natural variant | 354 | 1 | M → V. Corresponds to variant rs11768296 [ dbSNP | Ensembl ]. | VAR_053548 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "ORP-3, a human oxysterol-binding protein gene differentially expressed in hematopoietic cells." Gregorio-King C.C., Collier G.R., McMillan J.S., Waugh C.M., McLeod J.L., Collier F.M., Kirkland M.A. Blood 98:2279-2281(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A). |
| [2] | "A family of 12 human genes containing oxysterol-binding domains." Jaworski C.J., Moreira E., Li A., Lee R., Rodriguez I.R. Genomics 78:185-196(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A). |
| [3] | "ORP3 splice variants and their expression in human tissues and hematopoietic cells." Collier F.M., Gregorio-King C.C., Apostolopoulos J., Walder K., Kirkland M.A. DNA Cell Biol. 22:1-9(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A; 1B; 1C; 1D; 2A; 2B; 2C AND 2D). |
| [4] | "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A). Tissue: Brain. |
| [5] | Ohara O., Suyama M., Nagase T., Ishikawa K. Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [6] | "Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. Tsui L.-C.Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | 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. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. Wilson R.K.Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [9] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A). Tissue: Uterus. |
| [10] | "The OSBP-related protein family in humans." Lehto M., Laitinen S., Chinetti G., Johansson M., Ehnholm C., Staels B., Ikonen E., Olkkonen V.M. J. Lipid Res. 42:1203-1213(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-245 (ISOFORM 1A). |
| [11] | "Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-437, MASS SPECTROMETRY. Tissue: Platelet. |
| [12] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-410 AND SER-437, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [13] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16; SER-251; SER-304; SER-372 AND SER-410, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [14] | "Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-34; SER-410 AND SER-437, MASS SPECTROMETRY. |
| [15] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-304, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [16] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-304; SER-372 AND SER-410, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [17] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY008372 mRNA. Translation: AAG23400.1. AF392444 mRNA. Translation: AAL40657.1. AF491781 mRNA. Translation: AAM27386.1. AF491782 mRNA. Translation: AAM27387.1. AF491783 mRNA. Translation: AAM27388.1. AF491784 mRNA. Translation: AAM27389.1. AF491785 mRNA. Translation: AAM27390.1. AF491786 mRNA. Translation: AAM27391.1. AF515639 mRNA. Translation: AAM74165.1. AF515640 mRNA. Translation: AAM74166.1. AB014604 mRNA. Translation: BAA31679.2. Different initiation. AC003093 Genomic DNA. Translation: AAB83939.1. AC004008 Genomic DNA. No translation available. AC004016 Genomic DNA. Translation: AAC26986.2. AC004239 Genomic DNA. No translation available. CH236948 Genomic DNA. Translation: EAL24240.1. CH236948 Genomic DNA. Translation: EAL24241.1. CH236948 Genomic DNA. Translation: EAL24242.1. CH236948 Genomic DNA. Translation: EAL24243.1. CH236948 Genomic DNA. Translation: EAL24244.1. CH236948 Genomic DNA. Translation: EAL24245.1. CH471073 Genomic DNA. Translation: EAW93816.1. CH471073 Genomic DNA. Translation: EAW93817.1. CH471073 Genomic DNA. Translation: EAW93818.1. CH471073 Genomic DNA. Translation: EAW93819.1. CH471073 Genomic DNA. Translation: EAW93820.1. CH471073 Genomic DNA. Translation: EAW93821.1. BC017731 mRNA. Translation: AAH17731.1. AF323727 mRNA. Translation: AAG53408.1. |
| IPI | IPI00023555. IPI00162669. IPI00162670. IPI00167053. IPI00169296. IPI00169299. IPI00375694. IPI00375695. |
| RefSeq | NP_056365.1. NM_015550.2. NP_663160.1. NM_145320.1. NP_663161.1. NM_145321.1. NP_663162.1. NM_145322.1. |
| UniGene | Hs.520259. |
3D structure databases | |
| ProteinModelPortal | Q9H4L5. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9H4L5. 3 interactions. |
| MINT | MINT-1631853. |
PTM databases | |
| PhosphoSite | Q9H4L5. |
Polymorphism databases | |
| DMDM | 20139176. |
Proteomic databases | |
| PaxDb | Q9H4L5. |
| PRIDE | Q9H4L5. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000313367; ENSP00000315410; ENSG00000070882. ENST00000352860; ENSP00000315331; ENSG00000070882. ENST00000353930; ENSP00000315277; ENSG00000070882. ENST00000396429; ENSP00000379706; ENSG00000070882. ENST00000396431; ENSP00000379708; ENSG00000070882. ENST00000409069; ENSP00000386953; ENSG00000070882. ENST00000409452; ENSP00000386801; ENSG00000070882. ENST00000409555; ENSP00000386990; ENSG00000070882. ENST00000409759; ENSP00000386325; ENSG00000070882. ENST00000409863; ENSP00000386429; ENSG00000070882. ENST00000431825; ENSP00000389779; ENSG00000070882. |
| GeneID | 26031. |
| KEGG | hsa:26031. |
| UCSC | uc003sxf.3. human. uc003sxg.3. human. uc003sxh.3. human. uc003sxi.3. human. uc003sxj.1. human. uc003sxk.1. human. |
Organism-specific databases | |
| CTD | 26031. |
| GeneCards | GC07M024804. |
| HGNC | HGNC:16370. OSBPL3. |
| HPA | HPA000691. |
| MIM | 606732. gene. |
| neXtProt | NX_Q9H4L5. |
| PharmGKB | PA32828. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG281324. |
| HOVERGEN | HBG058934. |
| InParanoid | Q9H4L5. |
| OMA | PLERMVY. |
| OrthoDB | EOG4XPQFD. |
| PhylomeDB | Q9H4L5. |
Gene expression databases | |
| ArrayExpress | Q9H4L5. |
| Bgee | Q9H4L5. |
| Genevestigator | Q9H4L5. |
| GermOnline | ENSG00000070882. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.30.29.30. 1 hit. |
| InterPro | IPR000648. Oxysterol-bd. IPR018494. Oxysterol-bd_CS. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. [Graphical view] |
| PANTHER | PTHR10972. PTHR10972. 1 hit. |
| Pfam | PF01237. Oxysterol_BP. 1 hit. PF00169. PH. 1 hit. [Graphical view] |
| SMART | SM00233. PH. 1 hit. [Graphical view] |
| PROSITE | PS01013. OSBP. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | OSBPL3. human. |
| GenomeRNAi | 26031. |
| NextBio | 47824. |
| SOURCE | Search... |
Entry information
| Entry name | OSBL3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H4L5 Secondary accession number(s): A4D167 Q9UED6 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
