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Protein

Oxysterol-binding protein-related protein 1

Gene

OSBPL1A

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

Functioni

Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A (PubMed:16176980). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).By similarity2 Publications

GO - Molecular functioni

  • cholesterol binding Source: BHF-UCL
  • phospholipid binding Source: UniProtKB

GO - Biological processi

  • antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
  • cholesterol metabolic process Source: UniProtKB
  • lipid transport Source: UniProtKB-KW
  • vesicle-mediated transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Lipid transport, Transport

Keywords - Ligandi

Lipid-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000141447-MONOMER.
ReactomeiR-HSA-192105. Synthesis of bile acids and bile salts.
R-HSA-2132295. MHC class II antigen presentation.

Chemistry databases

SwissLipidsiSLP:000001534.

Names & Taxonomyi

Protein namesi
Recommended name:
Oxysterol-binding protein-related protein 1
Short name:
ORP-1
Short name:
OSBP-related protein 1
Gene namesi
Name:OSBPL1A
Synonyms:ORP1, OSBP8, OSBPL1, OSBPL1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:16398. OSBPL1A.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • extracellular exosome Source: UniProtKB
  • intracellular Source: UniProtKB
  • late endosome Source: UniProtKB
  • lysosomal membrane Source: Reactome
  • nucleoplasm Source: HPA
  • nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Endosome

Pathology & Biotechi

Organism-specific databases

DisGeNETi114876.
OpenTargetsiENSG00000141447.
PharmGKBiPA32826.

Polymorphism and mutation databases

BioMutaiOSBPL1A.
DMDMi20143880.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001003671 – 950Oxysterol-binding protein-related protein 1Add BLAST950

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei499PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BXW6.
MaxQBiQ9BXW6.
PaxDbiQ9BXW6.
PeptideAtlasiQ9BXW6.
PRIDEiQ9BXW6.

PTM databases

iPTMnetiQ9BXW6.
PhosphoSitePlusiQ9BXW6.

Expressioni

Gene expression databases

BgeeiENSG00000141447.
CleanExiHS_OSBPL1A.
ExpressionAtlasiQ9BXW6. baseline and differential.
GenevisibleiQ9BXW6. HS.

Organism-specific databases

HPAiHPA040959.
HPA043401.

Interactioni

Subunit structurei

Interacts with VAPA (By similarity). Interacts with the GTP-bound form of RAB7A. Interacts with OAS1B (By similarity).By similarity

Protein-protein interaction databases

BioGridi125379. 19 interactors.
IntActiQ9BXW6. 13 interactors.
STRINGi9606.ENSP00000320291.

Structurei

3D structure databases

ProteinModelPortaliQ9BXW6.
SMRiQ9BXW6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati47 – 76ANK 1Add BLAST30
Repeati80 – 109ANK 2Add BLAST30
Repeati175 – 204ANK 3Add BLAST30
Domaini235 – 334PHPROSITE-ProRule annotationAdd BLAST100

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 237Interaction with RAB7A1 PublicationAdd BLAST237

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili430 – 463Sequence analysisAdd BLAST34
Coiled coili877 – 913Sequence analysisAdd BLAST37

Sequence similaritiesi

Belongs to the OSBP family.Curated
Contains 3 ANK repeats.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG1737. Eukaryota.
ENOG410XP9E. LUCA.
GeneTreeiENSGT00760000119155.
HOGENOMiHOG000048711.
HOVERGENiHBG082087.
InParanoidiQ9BXW6.
KOiK20174.
OMAiVIADINC.
OrthoDBiEOG091G07RK.
PhylomeDBiQ9BXW6.
TreeFamiTF320922.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000648. Oxysterol-bd.
IPR018494. Oxysterol-bd_CS.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PANTHERiPTHR10972. PTHR10972. 2 hits.
PfamiPF12796. Ank_2. 1 hit.
PF01237. Oxysterol_BP. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 3 hits.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
PS01013. OSBP. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform B (identifier: Q9BXW6-1) [UniParc]FASTAAdd to basket
Also known as: OSBPL1B, OSBP8L, ORP1L

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
MNTEAEQQLL HHARNGNAEE VRQLLETMAR NEVIADINCK GRSKSNLGWT
60 70 80 90 100
PLHLACYFGH RQVVQDLLKA GAEVNVLNDM GDTPLHRAAF TGRKELVMLL
110 120 130 140 150
LEYNADTTIV NGSGQTAKEV THAEEIRSML EAVERTQQRK LEELLLAAAR
160 170 180 190 200
EGKTTELTAL LNRPNPPDVN CSDQLGNTPL HCAAYRAHKQ CALKLLRSGA
210 220 230 240 250
DPNLKNKNDQ KPLDLAQGAE MKHILVGNKV IYKALKRYEG PLWKSSRFFG
260 270 280 290 300
WRLFWVVLEH GVLSWYRKQP DAVHNIYRQG CKHLTQAVCT VKSTDSCLFF
310 320 330 340 350
IKCFDDTIHG FRVPKNSLQQ SREDWLEAIE EHSAYSTHYC SQDQLTDEEE
360 370 380 390 400
EDTVSAADLK KSLEKAQSCQ QRLDREISNF LKMIKECDMA KEMLPSFLQK
410 420 430 440 450
VEVVSEASRE TCVALTDCLN LFTKQEGVRN FKLEQEQEKN KILSEALETL
460 470 480 490 500
ATEHHELEQS LVKGSPPASI LSEDEFYDAL SDSESERSLS RLEAVTARSF
510 520 530 540 550
EEEGEHLGSR KHRMSEEKDC GGGDALSNGI KKHRTSLPSP MFSRNDFSIW
560 570 580 590 600
SILRKCIGME LSKITMPVIF NEPLSFLQRL TEYMEHTYLI HKASSLSDPV
610 620 630 640 650
ERMQCVAAFA VSAVASQWER TGKPFNPLLG ETYELVRDDL GFRLISEQVS
660 670 680 690 700
HHPPISAFHA EGLNNDFIFH GSIYPKLKFW GKSVEAEPKG TITLELLEHN
710 720 730 740 750
EAYTWTNPTC CVHNIIVGKL WIEQYGNVEI INHKTGDKCV LNFKPCGLFG
760 770 780 790 800
KELHKVEGYI QDKSKKKLCA LYGKWTECLY SVDPATFDAY KKNDKKNTEE
810 820 830 840 850
KKNSKQMSTS EELDEMPVPD SESVFIIPGS VLLWRIAPRP PNSAQMYNFT
860 870 880 890 900
SFAMVLNEVD KDMESVIPKT DCRLRPDIRA MENGEIDQAS EEKKRLEEKQ
910 920 930 940 950
RAARKNRSKS EEDWKTRWFH QGPNPYNGAQ DWIYSGSYWD RNYFNLPDIY
Length:950
Mass (Da):108,470
Last modified:March 27, 2002 - v2
Checksum:iCDDA26CA27B65F63
GO
Isoform A (identifier: Q9BXW6-2) [UniParc]FASTAAdd to basket
Also known as: OSBPL1A, OSBP8S

The sequence of this isoform differs from the canonical sequence as follows:
     1-513: Missing.

Show »
Length:437
Mass (Da):50,253
Checksum:i4723A83A95737985
GO
Isoform 4 (identifier: Q9BXW6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-382: Missing.

Show »
Length:568
Mass (Da):65,095
Checksum:i4D2331E52BE3632C
GO

Sequence cautioni

The sequence AAG53407 differs from that shown. Unlikely isoform. Aberrant splice sites.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti735T → A in AK001079 (PubMed:14702039).Curated1
Sequence conflicti841P → S in AAL40662 (PubMed:11735225).Curated1
Sequence conflicti844A → G in AAL40662 (PubMed:11735225).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053547810S → P.1 PublicationCorresponds to variant rs35693789dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0037791 – 513Missing in isoform A. 3 PublicationsAdd BLAST513
Alternative sequenceiVSP_0454431 – 382Missing in isoform 4. 1 PublicationAdd BLAST382

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF392449 mRNA. Translation: AAL40662.1.
AF392450 mRNA. Translation: AAL40663.1.
AF274714 mRNA. Translation: AAK15154.1.
AF323726 mRNA. Translation: AAG53407.2. Sequence problems.
AK001079 mRNA. No translation available.
AK301862 mRNA. Translation: BAH13569.1.
AC023983 Genomic DNA. No translation available.
AC090772 Genomic DNA. No translation available.
CCDSiCCDS11884.1. [Q9BXW6-1]
CCDS11885.1. [Q9BXW6-2]
CCDS56056.1. [Q9BXW6-4]
RefSeqiNP_001229437.1. NM_001242508.1. [Q9BXW6-4]
NP_060500.3. NM_018030.4. [Q9BXW6-2]
NP_542164.2. NM_080597.3. [Q9BXW6-1]
XP_016881022.1. XM_017025533.1. [Q9BXW6-2]
XP_016881023.1. XM_017025534.1. [Q9BXW6-2]
UniGeneiHs.370725.

Genome annotation databases

EnsembliENST00000319481; ENSP00000320291; ENSG00000141447. [Q9BXW6-1]
ENST00000357041; ENSP00000349545; ENSG00000141447. [Q9BXW6-4]
ENST00000399443; ENSP00000382372; ENSG00000141447. [Q9BXW6-2]
GeneIDi114876.
KEGGihsa:114876.
UCSCiuc002kvd.5. human. [Q9BXW6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF392449 mRNA. Translation: AAL40662.1.
AF392450 mRNA. Translation: AAL40663.1.
AF274714 mRNA. Translation: AAK15154.1.
AF323726 mRNA. Translation: AAG53407.2. Sequence problems.
AK001079 mRNA. No translation available.
AK301862 mRNA. Translation: BAH13569.1.
AC023983 Genomic DNA. No translation available.
AC090772 Genomic DNA. No translation available.
CCDSiCCDS11884.1. [Q9BXW6-1]
CCDS11885.1. [Q9BXW6-2]
CCDS56056.1. [Q9BXW6-4]
RefSeqiNP_001229437.1. NM_001242508.1. [Q9BXW6-4]
NP_060500.3. NM_018030.4. [Q9BXW6-2]
NP_542164.2. NM_080597.3. [Q9BXW6-1]
XP_016881022.1. XM_017025533.1. [Q9BXW6-2]
XP_016881023.1. XM_017025534.1. [Q9BXW6-2]
UniGeneiHs.370725.

3D structure databases

ProteinModelPortaliQ9BXW6.
SMRiQ9BXW6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125379. 19 interactors.
IntActiQ9BXW6. 13 interactors.
STRINGi9606.ENSP00000320291.

Chemistry databases

SwissLipidsiSLP:000001534.

PTM databases

iPTMnetiQ9BXW6.
PhosphoSitePlusiQ9BXW6.

Polymorphism and mutation databases

BioMutaiOSBPL1A.
DMDMi20143880.

Proteomic databases

EPDiQ9BXW6.
MaxQBiQ9BXW6.
PaxDbiQ9BXW6.
PeptideAtlasiQ9BXW6.
PRIDEiQ9BXW6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319481; ENSP00000320291; ENSG00000141447. [Q9BXW6-1]
ENST00000357041; ENSP00000349545; ENSG00000141447. [Q9BXW6-4]
ENST00000399443; ENSP00000382372; ENSG00000141447. [Q9BXW6-2]
GeneIDi114876.
KEGGihsa:114876.
UCSCiuc002kvd.5. human. [Q9BXW6-1]

Organism-specific databases

CTDi114876.
DisGeNETi114876.
GeneCardsiOSBPL1A.
H-InvDBHIX0014371.
HGNCiHGNC:16398. OSBPL1A.
HPAiHPA040959.
HPA043401.
MIMi606730. gene.
neXtProtiNX_Q9BXW6.
OpenTargetsiENSG00000141447.
PharmGKBiPA32826.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1737. Eukaryota.
ENOG410XP9E. LUCA.
GeneTreeiENSGT00760000119155.
HOGENOMiHOG000048711.
HOVERGENiHBG082087.
InParanoidiQ9BXW6.
KOiK20174.
OMAiVIADINC.
OrthoDBiEOG091G07RK.
PhylomeDBiQ9BXW6.
TreeFamiTF320922.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000141447-MONOMER.
ReactomeiR-HSA-192105. Synthesis of bile acids and bile salts.
R-HSA-2132295. MHC class II antigen presentation.

Miscellaneous databases

ChiTaRSiOSBPL1A. human.
GeneWikiiOSBPL1A.
GenomeRNAii114876.
PROiQ9BXW6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141447.
CleanExiHS_OSBPL1A.
ExpressionAtlasiQ9BXW6. baseline and differential.
GenevisibleiQ9BXW6. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000648. Oxysterol-bd.
IPR018494. Oxysterol-bd_CS.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PANTHERiPTHR10972. PTHR10972. 2 hits.
PfamiPF12796. Ank_2. 1 hit.
PF01237. Oxysterol_BP. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 3 hits.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
PS01013. OSBP. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOSBL1_HUMAN
AccessioniPrimary (citable) accession number: Q9BXW6
Secondary accession number(s): B7Z7D3, Q9BZF5, Q9NW87
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: March 27, 2002
Last modified: November 30, 2016
This is version 153 of the entry and version 2 of the sequence. [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 18
    Human chromosome 18: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.