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Protein

Oxysterol-binding protein-related protein 7

Gene

OSBPL7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • cholesterol binding Source: BHF-UCL
  • sterol transporter activity Source: Reactome

GO - Biological processi

  • bile acid biosynthetic process Source: Reactome
  • cellular response to cholesterol Source: BHF-UCL
  • positive regulation of proteasomal protein catabolic process Source: BHF-UCL
  • regulation of autophagy Source: ParkinsonsUK-UCL

Keywordsi

Biological processLipid transport, Transport
LigandLipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-192105. Synthesis of bile acids and bile salts.

Names & Taxonomyi

Protein namesi
Recommended name:
Oxysterol-binding protein-related protein 7
Short name:
ORP-7
Short name:
OSBP-related protein 7
Gene namesi
Name:OSBPL7
Synonyms:ORP7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:16387. OSBPL7.

Subcellular locationi

GO - Cellular componenti

  • autophagosome Source: BHF-UCL
  • cytosol Source: BHF-UCL
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • perinuclear endoplasmic reticulum Source: BHF-UCL
  • plasma membrane Source: BHF-UCL

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi114881.
OpenTargetsiENSG00000006025.
PharmGKBiPA32831.

Polymorphism and mutation databases

BioMutaiOSBPL7.
DMDMi20139132.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001003771 – 842Oxysterol-binding protein-related protein 7Add BLAST842

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei171PhosphothreonineCombined sources1
Modified residuei217PhosphoserineCombined sources1
Modified residuei226PhosphoserineCombined sources1
Modified residuei256PhosphoserineCombined sources1
Modified residuei272PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BZF2.
MaxQBiQ9BZF2.
PaxDbiQ9BZF2.
PeptideAtlasiQ9BZF2.
PRIDEiQ9BZF2.

PTM databases

iPTMnetiQ9BZF2.
PhosphoSitePlusiQ9BZF2.

Expressioni

Tissue specificityi

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.1 Publication

Developmental stagei

Expressed in fetal lung and thymus.1 Publication

Gene expression databases

BgeeiENSG00000006025.
CleanExiHS_OSBPL7.
ExpressionAtlasiQ9BZF2. baseline and differential.
GenevisibleiQ9BZF2. HS.

Organism-specific databases

HPAiHPA036076.
HPA053083.

Interactioni

Protein-protein interaction databases

ELMiQ9BZF2.
IntActiQ9BZF2. 1 interactor.
STRINGi9606.ENSP00000007414.

Structurei

3D structure databases

ProteinModelPortaliQ9BZF2.
SMRiQ9BZF2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini47 – 142PHPROSITE-ProRule annotationAdd BLAST96

Sequence similaritiesi

Belongs to the OSBP family.Curated

Phylogenomic databases

eggNOGiKOG1737. Eukaryota.
ENOG410XP9E. LUCA.
GeneTreeiENSGT00760000119155.
HOGENOMiHOG000231072.
HOVERGENiHBG058934.
InParanoidiQ9BZF2.
KOiK20463.
OMAiPERQEGH.
OrthoDBiEOG091G0DJB.
PhylomeDBiQ9BZF2.
TreeFamiTF320922.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiView protein in InterPro
IPR000648. Oxysterol-bd.
IPR018494. Oxysterol-bd_CS.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
PANTHERiPTHR10972. PTHR10972. 1 hit.
PfamiView protein in Pfam
PF01237. Oxysterol_BP. 1 hit.
SMARTiView protein in SMART
SM00233. PH. 1 hit.
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiView protein in PROSITE
PS01013. OSBP. 1 hit.
PS50003. PH_DOMAIN. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BZF2-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MDFQERDPPF LPESAQSSKP SSAQQASELW EVVEEPRVRL GTEGVMPERQ
60 70 80 90 100
EGHLLKKRKW PLKGWHKRYF VLEDGILHYA TTRQDITKGK LHGSIDVRLS
110 120 130 140 150
VMSINKKAQR IDLDTEDNIY HLKIKSQDLF QSWVAQLRAH RLAHRLDMPR
160 170 180 190 200
GSLPSTAHRK VPGAQLPTAA TASALPGLGP REKVSSWLRD SDGLDRCSHE
210 220 230 240 250
LSECQGKLQE LHRLLQSLES LHRIPSAPVI PTHQASVTTE RPKKGKRTSR
260 270 280 290 300
MWCTQSFAKD DTIGRVGRLH GSVPNLSRYL ESRDSSGTRG LPPTDYAHLQ
310 320 330 340 350
RSFWALAQKV HSSLSSVLAA LTMERDQLRD MHQGSELSRM GVSEASTGQR
360 370 380 390 400
RLHSLSTSSD TTADSFSSLN PEEQEALYMK GRELTPQLSQ TSILSLADSH
410 420 430 440 450
TEFFDACEVL LSASSSENEG SEEEESCTSE ITTSLSEEML DLRGAERCQK
460 470 480 490 500
GGCVPGRPMG PPRRRCLPAA SGPGADVSLW NILRNNIGKD LSKVSMPVQL
510 520 530 540 550
NEPLNTLQRL CEELEYSSLL DQASRIADPC ERMVYIAAFA VSAYSSTYHR
560 570 580 590 600
AGCKPFNPVL GETYECERPD RGFRFISEQV SHHPPISACH AESENFAFWQ
610 620 630 640 650
DMKWKNKFWG KSLEIVPVGT VNVSLPRFGD HFEWNKVTSC IHNVLSGQRW
660 670 680 690 700
IEHYGEVLIR NTQDSSCHCK ITFCKAKYWS SNVHEVQGAV LSRSGRVLHR
710 720 730 740 750
LFGKWHEGLY RGPTPGGQCI WKPNSMPPDH ERNFGFTQFA LELNELTAEL
760 770 780 790 800
KRSLPSTDTR LRPDQRYLEE GNIQAAEAQK RRIEQLQRDR RKVMEENNIV
810 820 830 840
HQARFFRRQT DSSGKEWWVT NNTYWRLRAE PGYGNMDGAV LW
Length:842
Mass (Da):95,432
Last modified:June 1, 2001 - v1
Checksum:i6DE6ED596CEE6FE3
GO
Isoform 2 (identifier: Q9BZF2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     343-357: SEASTGQRRLHSLST → RPGGQGDWCGERASS
     358-842: Missing.

Show »
Length:357
Mass (Da):40,186
Checksum:iE14AB73FCCB16D1C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060080148M → I. Corresponds to variant dbSNP:rs8076196Ensembl.1
Natural variantiVAR_053551156T → I. Corresponds to variant dbSNP:rs35437144Ensembl.1
Natural variantiVAR_060081169A → E. Corresponds to variant dbSNP:rs8071195Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_057227343 – 357SEAST…HSLST → RPGGQGDWCGERASS in isoform 2. 2 PublicationsAdd BLAST15
Alternative sequenceiVSP_057228358 – 842Missing in isoform 2. 2 PublicationsAdd BLAST485

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF323729 mRNA. Translation: AAG53410.1.
AK289523 mRNA. Translation: BAF82212.1.
AC003665 Genomic DNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94800.1.
CH471109 Genomic DNA. Translation: EAW94801.1.
CH471109 Genomic DNA. Translation: EAW94802.1.
CH471109 Genomic DNA. Translation: EAW94803.1.
BC028010 mRNA. Translation: AAH28010.1.
BC065482 mRNA. Translation: AAH65482.1.
CCDSiCCDS11515.1. [Q9BZF2-1]
RefSeqiNP_665741.1. NM_145798.2. [Q9BZF2-1]
UniGeneiHs.463320.

Genome annotation databases

EnsembliENST00000007414; ENSP00000007414; ENSG00000006025. [Q9BZF2-1]
ENST00000392507; ENSP00000376295; ENSG00000006025. [Q9BZF2-1]
ENST00000613735; ENSP00000479827; ENSG00000006025. [Q9BZF2-2]
GeneIDi114881.
KEGGihsa:114881.
UCSCiuc002ilx.2. human. [Q9BZF2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiOSBL7_HUMAN
AccessioniPrimary (citable) accession number: Q9BZF2
Secondary accession number(s): D3DTT6, Q6PIV6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: June 1, 2001
Last modified: August 30, 2017
This is version 127 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families