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Q9H0X9 (OSBL5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Oxysterol-binding protein-related protein 5

Short name=ORP-5
Short name=OSBP-related protein 5
Alternative name(s):
Oxysterol-binding protein homolog 1
Gene names
Name:OSBPL5
Synonyms:KIAA1534, OBPH1, ORP5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length879 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes. Ref.14

Subcellular location

Endoplasmic reticulum membrane; Single-pass membrane protein Ref.14.

Tissue specificity

Ubiquitously expressed. Ref.1 Ref.14

Miscellaneous

The gene is imprinted in placenta, where it is predominantly expressed from the maternal allele only. Not imprinted in other tissues.

Sequence similarities

Belongs to the OSBP family.

Contains 1 PH domain.

Sequence caution

The sequence BAA96058.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H0X9-1)

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: Q9H0X9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     134-201: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 879879Oxysterol-binding protein-related protein 5
PRO_0000100373

Regions

Transmembrane860 – 87819Helical; Potential
Domain126 – 243118PH
Coiled coil93 – 12331 Potential

Amino acid modifications

Modified residue7471Phosphoserine Ref.11 Ref.12 Ref.13

Natural variations

Alternative sequence134 – 20168Missing in isoform 2.
VSP_043071
Natural variant901T → I.
Corresponds to variant rs6578323 [ dbSNP | Ensembl ].
VAR_060079
Natural variant7741A → T.
Corresponds to variant rs2277301 [ dbSNP | Ensembl ].
VAR_020414

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 7EF06544347CC60A

FASTA87998,616
        10         20         30         40         50         60 
MKEEAFLRRR FSLCPPSSTP QKVDPRKLTR NLLLSGDNEL YPLSPGKDME PNGPSLPRDE 

        70         80         90        100        110        120 
GPPTPSSATK VPPAEYRLCN GSDKECVSPT ARVTKKETLK AQKENYRQEK KRATRQLLSA 

       130        140        150        160        170        180 
LTDPSVVIMA DSLKIRGTLK SWTKLWCVLK PGVLLIYKTP KVGQWVGTVL LHCCELIERP 

       190        200        210        220        230        240 
SKKDGFCFKL FHPLDQSVWA VKGPKGESVG SITQPLPSSY LIFRAASESD GRCWLDALEL 

       250        260        270        280        290        300 
ALRCSSLLRL GTCKPGRDGE PGTSPDASPS SLCGLPASAT VHPDQDLFPL NGSSLENDAF 

       310        320        330        340        350        360 
SDKSERENPE ESDTETQDHS RKTESGSDQS ETPGAPVRRG TTYVEQVQEE LGELGEASQV 

       370        380        390        400        410        420 
ETVSEENKSL MWTLLKQLRP GMDLSRVVLP TFVLEPRSFL NKLSDYYYHA DLLSRAAVEE 

       430        440        450        460        470        480 
DAYSRMKLVL RWYLSGFYKK PKGIKKPYNP ILGETFRCCW FHPQTDSRTF YIAEQVSHHP 

       490        500        510        520        530        540 
PVSAFHVSNR KDGFCISGSI TAKSRFYGNS LSALLDGKAT LTFLNRAEDY TLTMPYAHCK 

       550        560        570        580        590        600 
GILYGTMTLE LGGKVTIECA KNNFQAQLEF KLKPFFGGST SINQISGKIT SGEEVLASLS 

       610        620        630        640        650        660 
GHWDRDVFIK EEGSGSSALF WTPSGEVRRQ RLRQHTVPLE EQTELESERL WQHVTRAISK 

       670        680        690        700        710        720 
GDQHRATQEK FALEEAQRQR ARERQESLMP WKPQLFHLDP ITQEWHYRYE DHSPWDPLKD 

       730        740        750        760        770        780 
IAQFEQDGIL RTLQQEAVAR QTTFLGSPGP RHERSGPDQR LRKASDQPSG HSQATESSGS 

       790        800        810        820        830        840 
TPESCPELSD EEQDGDFVPG GESPCPRCRK EARRLQALHE AILSIREAQQ ELHRHLSAML 

       850        860        870 
SSTARAAQAP TPGLLQSPRS WFLLCVFLAC QLFINHILK 

« Hide

Isoform 2 [UniParc].

Checksum: ECBEEE16DCF1B998
Show »

FASTA81190,794

References

« Hide 'large scale' references
[1]"Characterization and imprinting status of OBPH1/Obph1 gene: implications for an extended imprinting domain in human and mouse."
Higashimoto K., Soejima H., Yatsuki H., Joh K., Uchiyama M., Obata Y., Ono R., Wang Y., Xin Z., Zhu X., Masuko S., Ishino F., Hatada I., Jinno Y., Iwasaka T., Katsuki T., Mukai T.
Genomics 80:575-584(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), IMPRINTING, TISSUE SPECIFICITY.
[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 1).
[3]"Isolation and characterization of human oxysterol-binding protein-related protein-5 (ORP-5)."
Anniss A.M., Apostolopoulos J., Sparrow R.L.
Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Liver.
[4]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Uterus.
[5]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Spleen.
[6]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [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. expand/collapse author list , 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 (MAR-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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] (ISOFORMS 1 AND 2).
Tissue: Brain and Uterus.
[9]"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 1-61 (ISOFORM 1).
[10]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 30-879 (ISOFORM 1).
Tissue: Brain.
[11]"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-747, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"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-747, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[13]"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-747, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[14]"A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking."
Du X., Kumar J., Ferguson C., Schulz T.A., Ong Y.S., Hong W., Prinz W.A., Parton R.G., Brown A.J., Yang H.
J. Cell Biol. 192:121-135(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB074006 mRNA. Translation: BAB85686.1.
AF392453 mRNA. Translation: AAL40666.1.
AF410430 mRNA. Translation: AAK98617.1.
AL136918 mRNA. Translation: CAB66852.1.
AK056510 mRNA. Translation: BAG51735.1.
AC108448 Genomic DNA. No translation available.
CH471158 Genomic DNA. Translation: EAX02542.1.
CH471158 Genomic DNA. Translation: EAX02543.1.
BC032646 mRNA. Translation: AAH32646.2.
BC039579 mRNA. Translation: AAH39579.1.
AF331964 mRNA. Translation: AAG53417.1.
AB040967 mRNA. Translation: BAA96058.1. Sequence problems.
CCDSCCDS31343.1. [Q9H0X9-2]
CCDS31344.1. [Q9H0X9-1]
RefSeqNP_001137535.1. NM_001144063.1. [Q9H0X9-2]
NP_065947.1. NM_020896.3. [Q9H0X9-1]
NP_663613.1. NM_145638.2. [Q9H0X9-2]
UniGeneHs.436166.

3D structure databases

ProteinModelPortalQ9H0X9.
SMRQ9H0X9. Positions 125-243, 369-726.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125380. 4 interactions.
IntActQ9H0X9. 1 interaction.
MINTMINT-4722889.
STRING9606.ENSP00000263650.

PTM databases

PhosphoSiteQ9H0X9.

Polymorphism databases

DMDM20139173.

Proteomic databases

MaxQBQ9H0X9.
PaxDbQ9H0X9.
PRIDEQ9H0X9.

Protocols and materials databases

DNASU114879.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263650; ENSP00000263650; ENSG00000021762. [Q9H0X9-1]
ENST00000348039; ENSP00000302872; ENSG00000021762. [Q9H0X9-2]
ENST00000389989; ENSP00000374639; ENSG00000021762. [Q9H0X9-2]
GeneID114879.
KEGGhsa:114879.
UCSCuc001lxk.2. human. [Q9H0X9-1]
uc001lxl.2. human. [Q9H0X9-2]

Organism-specific databases

CTD114879.
GeneCardsGC11M003108.
HGNCHGNC:16392. OSBPL5.
HPAHPA038712.
MIM606733. gene.
neXtProtNX_Q9H0X9.
PharmGKBPA32829.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG262374.
HOGENOMHOG000233870.
HOVERGENHBG053375.
InParanoidQ9H0X9.
OMAWFLLCIF.
OrthoDBEOG7D59MQ.
PhylomeDBQ9H0X9.
TreeFamTF312807.

Gene expression databases

ArrayExpressQ9H0X9.
BgeeQ9H0X9.
CleanExHS_OSBPL5.
GenevestigatorQ9H0X9.

Family and domain databases

Gene3D2.30.29.30. 1 hit.
InterProIPR000648. Oxysterol-bd.
IPR018494. Oxysterol-bd_CS.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
[Graphical view]
PANTHERPTHR10972. PTHR10972. 1 hit.
PfamPF01237. Oxysterol_BP. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
[Graphical view]
PROSITEPS01013. OSBP. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSOSBPL5. human.
GeneWikiOSBPL5.
GenomeRNAi114879.
NextBio79347.
PROQ9H0X9.
SOURCESearch...

Entry information

Entry nameOSBL5_HUMAN
AccessionPrimary (citable) accession number: Q9H0X9
Secondary accession number(s): A6NDP0 expand/collapse secondary AC list , A6NJS8, Q54A90, Q8N596, Q9BZB0, Q9P1Z4
Entry history
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM