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OSBPL9 oxysterol binding protein like 9 [ Homo sapiens (human) ]

Gene ID: 114883, updated on 17-Jun-2019

Summary

Official Symbol
OSBPL9provided by HGNC
Official Full Name
oxysterol binding protein like 9provided by HGNC
Primary source
HGNC:HGNC:16386
See related
Ensembl:ENSG00000117859 MIM:606737
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ORP9; ORP-9
Summary
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]
Expression
Ubiquitous expression in kidney (RPKM 20.1), thyroid (RPKM 18.0) and 25 other tissues See more
Orthologs

Genomic context

See OSBPL9 in Genome Data Viewer
Location:
1p32.3
Exon count:
30
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (51616874..51789219)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (52082546..52254891)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378720 Neighboring gene RNA, U6 small nuclear 1281, pseudogene Neighboring gene calreticulin 4, pseudogene Neighboring gene uncharacterized LOC105378719 Neighboring gene solute carrier family 25 member 6 pseudogene 3 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 51 Neighboring gene uncharacterized LOC105378721 Neighboring gene nardilysin convertase Neighboring gene microRNA 761

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Bile acid and bile salt metabolism, organism-specific biosystem (from REACTOME)
    Bile acid and bile salt metabolism, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily. Newly synthesized bile salts are secreted into the bile and released into the small intestine where they emulsi...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Synthesis of bile acids and bile salts, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily (Russell 2003). The major pathway for bile salt synthesis in the liver begins with the conversion of cholesterol...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12492, FLJ14629, FLJ14801, FLJ32055, FLJ34384, MGC15035

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
sterol transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
oxysterol-binding protein-related protein 9
Names
OSBP-related protein 9

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001330580.2NP_001317509.1  oxysterol-binding protein-related protein 9 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) contains an alternate in-frame exon compared to variant 1. The resulting isoform (g) has the same N- and C-termini and is longer compared to isoform a.
    Source sequence(s)
    AL050343
    Consensus CDS
    CCDS81322.1
    UniProtKB/Swiss-Prot
    Q96SU4
    Related
    ENSP00000433083.1, ENST00000531828.5
    Conserved Domains (1) summary
    pfam01237
    Location:212558
    Oxysterol_BP; Oxysterol-binding protein
  2. NM_001350208.2NP_001337137.1  oxysterol-binding protein-related protein 9 isoform h

    Status: REVIEWED

    Source sequence(s)
    AF392445, AL050343, DB081133, EL953716
    Conserved Domains (1) summary
    pfam01237
    Location:191537
    Oxysterol_BP; Oxysterol-binding protein
  3. NM_001350209.2NP_001337138.1  oxysterol-binding protein-related protein 9 isoform h

    Status: REVIEWED

    Source sequence(s)
    AF392445, AL050343, DA754904, DB254963, EL953716
    Conserved Domains (1) summary
    pfam01237
    Location:191537
    Oxysterol_BP; Oxysterol-binding protein
  4. NM_001350210.2NP_001337139.1  oxysterol-binding protein-related protein 9 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL050343, BC025978, DA374804, EL953716
    Conserved Domains (1) summary
    pfam01237
    Location:162508
    Oxysterol_BP; Oxysterol-binding protein
  5. NM_024586.6NP_078862.4  oxysterol-binding protein-related protein 9 isoform e

    See identical proteins and their annotated locations for NP_078862.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and includes an additional in-frame exon in its central coding region, compared to variant 1. The encoded isoform (e) has a longer and distinct N-terminus, and contains an additional internal segment, compared to isoform a. Isoform e contains both a pleckstrin homology domain and a sterol-binding domain.
    Source sequence(s)
    AF392445, AL050343, DB081133, EL953716
    Consensus CDS
    CCDS41332.3
    UniProtKB/Swiss-Prot
    Q96SU4
    Related
    ENSP00000407168.1, ENST00000428468.6
    Conserved Domains (2) summary
    cd13290
    Location:5106
    PH_ORP9; Human Oxysterol binding protein related protein 9 Pleckstrin homology (PH) domain
    pfam01237
    Location:377723
    Oxysterol_BP; Oxysterol-binding protein
  6. NM_148904.4NP_683702.1  oxysterol-binding protein-related protein 9 isoform a

    See identical proteins and their annotated locations for NP_683702.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shortest isoform (a), which contains a sterol-binding domain, but not a pleckstrin homology domain. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AL050343, BC025978, BQ230093, EL953716
    Consensus CDS
    CCDS41334.1
    UniProtKB/Swiss-Prot
    Q96SU4
    Related
    ENSP00000433279.1, ENST00000462759.5
    Conserved Domains (1) summary
    pfam01237
    Location:199545
    Oxysterol_BP; Oxysterol-binding protein
  7. NM_148905.4NP_683703.1  oxysterol-binding protein-related protein 9 isoform a

    See identical proteins and their annotated locations for NP_683703.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a), which contains a sterol-binding domain, but not a pleckstrin homology domain.
    Source sequence(s)
    AK022554, AL050343, BQ230093, EL953716
    Consensus CDS
    CCDS41334.1
    UniProtKB/Swiss-Prot
    Q96SU4
    Related
    ENSP00000431980.1, ENST00000486942.5
    Conserved Domains (1) summary
    pfam01237
    Location:199545
    Oxysterol_BP; Oxysterol-binding protein
  8. NM_148906.3NP_683704.2  oxysterol-binding protein-related protein 9 isoform b

    See identical proteins and their annotated locations for NP_683704.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and includes an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) has a longer and distinct N-terminus, compared to isoform a. Isoform b contains both a pleckstrin homology domain and a sterol-binding domain.
    Source sequence(s)
    AL050343, AY178997, DB081133, EL953716
    Consensus CDS
    CCDS41333.2
    UniProtKB/Swiss-Prot
    Q96SU4
    Related
    ENSP00000413263.1, ENST00000453295.5
    Conserved Domains (2) summary
    pfam01237
    Location:360706
    Oxysterol_BP; Oxysterol-binding protein
    cl17171
    Location:589
    PH-like; Pleckstrin homology-like domain
  9. NM_148907.3NP_683705.1  oxysterol-binding protein-related protein 9 isoform c

    See identical proteins and their annotated locations for NP_683705.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon, differs in the 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (c) has a longer and distinct N-terminus, compared to isoform a. Isoform c contains a sterol-binding domain, but not a pleckstrin homology domain.
    Source sequence(s)
    AK027707, AL050343, BQ230093, EL953716
    Consensus CDS
    CCDS558.1
    UniProtKB/Swiss-Prot
    Q96SU4
    Related
    ENSP00000354970.5, ENST00000361556.9
    Conserved Domains (1) summary
    pfam01237
    Location:267613
    Oxysterol_BP; Oxysterol-binding protein
  10. NM_148908.4NP_683706.3  oxysterol-binding protein-related protein 9 isoform d

    See identical proteins and their annotated locations for NP_683706.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (d) has a longer and distinct N-terminus, compared to isoform a. Isoform d contains both a pleckstrin homology domain and a sterol-binding domain.
    Source sequence(s)
    AK027535, AL050343, DB081133, EL953716
    Consensus CDS
    CCDS55598.1
    UniProtKB/Swiss-Prot
    Q96SU4
    Related
    ENSP00000360779.1, ENST00000371714.5
    Conserved Domains (2) summary
    cd13290
    Location:5106
    PH_ORP9; Human Oxysterol binding protein related protein 9 Pleckstrin homology (PH) domain
    pfam01237
    Location:364710
    Oxysterol_BP; Oxysterol-binding protein
  11. NM_148909.4NP_683707.3  oxysterol-binding protein-related protein 9 isoform f

    See identical proteins and their annotated locations for NP_683707.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (f) has a longer and distinct N-terminus, compared to isoform a. Isoform f contains both a pleckstrin homology domain and a sterol-binding domain.
    Source sequence(s)
    AK056617, AL050343, EL953716
    Consensus CDS
    CCDS44145.1
    UniProtKB/Swiss-Prot
    Q96SU4
    Related
    ENSP00000412733.1, ENST00000447887.5
    Conserved Domains (2) summary
    cd13290
    Location:5106
    PH_ORP9; Human Oxysterol binding protein related protein 9 Pleckstrin homology (PH) domain
    pfam01237
    Location:387733
    Oxysterol_BP; Oxysterol-binding protein

RNA

  1. NR_036662.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) contains different exon structure in the 5' region and includes an additional alternate exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variants 3, 5, 6 and 7, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK091703, AL050343, AL772260, DB081133, EL953716

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    51616874..51789219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000219.1XP_016855708.1  oxysterol-binding protein-related protein 9 isoform X9

    UniProtKB/Swiss-Prot
    Q96SU4
    Conserved Domains (1) summary
    pfam01237
    Location:199545
    Oxysterol_BP; Oxysterol-binding protein
  2. XM_006710324.3XP_006710387.1  oxysterol-binding protein-related protein 9 isoform X9

    See identical proteins and their annotated locations for XP_006710387.1

    UniProtKB/Swiss-Prot
    Q96SU4
    Conserved Domains (1) summary
    pfam01237
    Location:199545
    Oxysterol_BP; Oxysterol-binding protein
  3. XM_006710318.2XP_006710381.1  oxysterol-binding protein-related protein 9 isoform X4

    Conserved Domains (3) summary
    cd13290
    Location:5106
    PH_ORP9; Human Oxysterol binding protein related protein 9 Pleckstrin homology (PH) domain
    pfam00169
    Location:498
    PH; PH domain
    pfam01237
    Location:367713
    Oxysterol_BP; Oxysterol-binding protein
  4. XM_017000218.1XP_016855707.1  oxysterol-binding protein-related protein 9 isoform X5

  5. XM_011540603.2XP_011538905.1  oxysterol-binding protein-related protein 9 isoform X8

    See identical proteins and their annotated locations for XP_011538905.1

    UniProtKB/Swiss-Prot
    Q96SU4
    Conserved Domains (1) summary
    pfam01237
    Location:212558
    Oxysterol_BP; Oxysterol-binding protein
  6. XM_006710325.3XP_006710388.1  oxysterol-binding protein-related protein 9 isoform X9

    See identical proteins and their annotated locations for XP_006710388.1

    UniProtKB/Swiss-Prot
    Q96SU4
    Conserved Domains (1) summary
    pfam01237
    Location:199545
    Oxysterol_BP; Oxysterol-binding protein
  7. XM_011540599.2XP_011538901.1  oxysterol-binding protein-related protein 9 isoform X1

    Conserved Domains (3) summary
    cd13290
    Location:5106
    PH_ORP9; Human Oxysterol binding protein related protein 9 Pleckstrin homology (PH) domain
    pfam00169
    Location:498
    PH; PH domain
    pfam01237
    Location:400746
    Oxysterol_BP; Oxysterol-binding protein
  8. XM_011540600.2XP_011538902.1  oxysterol-binding protein-related protein 9 isoform X2

    Conserved Domains (3) summary
    cd13290
    Location:5106
    PH_ORP9; Human Oxysterol binding protein related protein 9 Pleckstrin homology (PH) domain
    pfam00169
    Location:498
    PH; PH domain
    pfam01237
    Location:390736
    Oxysterol_BP; Oxysterol-binding protein
  9. XM_011540601.2XP_011538903.1  oxysterol-binding protein-related protein 9 isoform X3

    Conserved Domains (3) summary
    cd13290
    Location:5106
    PH_ORP9; Human Oxysterol binding protein related protein 9 Pleckstrin homology (PH) domain
    pfam00169
    Location:498
    PH; PH domain
    pfam01237
    Location:377723
    Oxysterol_BP; Oxysterol-binding protein
  10. XM_017000220.1XP_016855709.1  oxysterol-binding protein-related protein 9 isoform X9

    UniProtKB/Swiss-Prot
    Q96SU4
    Conserved Domains (1) summary
    pfam01237
    Location:199545
    Oxysterol_BP; Oxysterol-binding protein
  11. XM_011540604.2XP_011538906.1  oxysterol-binding protein-related protein 9 isoform X8

    See identical proteins and their annotated locations for XP_011538906.1

    UniProtKB/Swiss-Prot
    Q96SU4
    Conserved Domains (1) summary
    pfam01237
    Location:212558
    Oxysterol_BP; Oxysterol-binding protein
  12. XM_017000221.2XP_016855710.1  oxysterol-binding protein-related protein 9 isoform X9

    UniProtKB/Swiss-Prot
    Q96SU4
    Conserved Domains (1) summary
    pfam01237
    Location:199545
    Oxysterol_BP; Oxysterol-binding protein
  13. XM_006710321.2XP_006710384.1  oxysterol-binding protein-related protein 9 isoform X7

    Conserved Domains (1) summary
    pfam01237
    Location:270616
    Oxysterol_BP; Oxysterol-binding protein
  14. XM_017000224.1XP_016855713.1  oxysterol-binding protein-related protein 9 isoform X10

    Conserved Domains (1) summary
    pfam01237
    Location:191537
    Oxysterol_BP; Oxysterol-binding protein
  15. XM_006710320.3XP_006710383.1  oxysterol-binding protein-related protein 9 isoform X6

    See identical proteins and their annotated locations for XP_006710383.1

    Conserved Domains (1) summary
    pfam01237
    Location:280626
    Oxysterol_BP; Oxysterol-binding protein
  16. XM_006710326.2XP_006710389.1  oxysterol-binding protein-related protein 9 isoform X9

    See identical proteins and their annotated locations for XP_006710389.1

    UniProtKB/Swiss-Prot
    Q96SU4
    Conserved Domains (1) summary
    pfam01237
    Location:199545
    Oxysterol_BP; Oxysterol-binding protein
  17. XM_006710323.2XP_006710386.1  oxysterol-binding protein-related protein 9 isoform X8

    See identical proteins and their annotated locations for XP_006710386.1

    UniProtKB/Swiss-Prot
    Q96SU4
    Conserved Domains (1) summary
    pfam01237
    Location:212558
    Oxysterol_BP; Oxysterol-binding protein

RNA

  1. XR_001736955.2 RNA Sequence

    Related
    ENST00000495776.5
  2. XR_001736954.1 RNA Sequence

  3. XR_001736953.1 RNA Sequence

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