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    OSBPL8 oxysterol binding protein like 8 [ Homo sapiens (human) ]

    Gene ID: 114882, updated on 7-Jul-2024

    Summary

    Official Symbol
    OSBPL8provided by HGNC
    Official Full Name
    oxysterol binding protein like 8provided by HGNC
    Primary source
    HGNC:HGNC:16396
    See related
    Ensembl:ENSG00000091039 MIM:606736; AllianceGenome:HGNC:16396
    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
    ORP8; MST120; OSBP10; MSTP120
    Summary
    This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 16.1), lymph node (RPKM 15.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See OSBPL8 in Genome Data Viewer
    Location:
    12q21.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (76351797..76559771, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (76329717..76537711, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (76745577..76953551, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:76713713-76714305 Neighboring gene RN7SK pseudogene 172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:76741501-76742450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:76742451-76743400 Neighboring gene Bardet-Biedl syndrome 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6676 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:76884201-76884702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6677 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:76924776-76925504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4671 Neighboring gene uncharacterized LOC105369850 Neighboring gene MPRA-validated peak1843 silencer Neighboring gene MPRA-validated peak1844 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:77001658-77002857 Neighboring gene ribosomal protein L7a pseudogene 9 Neighboring gene YWHAQ pseudogene 7

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126578, MGC133203, DKFZp686A11164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-4-phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylserine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylserine transfer activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipid transporter activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cortical endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    oxysterol-binding protein-related protein 8
    Names
    OSBP-related protein 8

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001003712.2NP_001003712.1  oxysterol-binding protein-related protein 8 isoform b

      See identical proteins and their annotated locations for NP_001003712.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AF323730, AF392452, BX647211
      Consensus CDS
      CCDS41814.1
      UniProtKB/TrEMBL
      Q5HYM3
      Related
      ENSP00000376940.4, ENST00000393250.8
      Conserved Domains (2) summary
      cd13286
      Location:100229
      PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
      pfam01237
      Location:365702
      Oxysterol_BP; Oxysterol-binding protein
    2. NM_001319652.2NP_001306581.1  oxysterol-binding protein-related protein 8 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains three alternate exons and lacks an exon in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AF323730, AF392452, BC111728, CR749542
      Consensus CDS
      CCDS41814.1
      UniProtKB/TrEMBL
      Q5HYM3
      Related
      ENSP00000376939.2, ENST00000393249.6
      Conserved Domains (2) summary
      cd13286
      Location:100229
      PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
      pfam01237
      Location:365702
      Oxysterol_BP; Oxysterol-binding protein
    3. NM_001319653.2NP_001306582.1  oxysterol-binding protein-related protein 8 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site compared to variant 1. It encoded isoform c, which is shorter than isoform a.
      Source sequence(s)
      AC117491, AC122687, AC124943
      UniProtKB/TrEMBL
      Q5HYM3
      Conserved Domains (3) summary
      cd13286
      Location:139268
      PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
      pfam00169
      Location:146262
      PH; PH domain
      pfam01237
      Location:404742
      Oxysterol_BP; Oxysterol-binding protein
    4. NM_001319655.2NP_001306584.1  oxysterol-binding protein-related protein 8 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform d, which has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC122687, AF392452, AK092160, CR749542
      UniProtKB/TrEMBL
      Q5HYM3
      Related
      ENSP00000447893.1, ENST00000546946.5
      Conserved Domains (3) summary
      cd13286
      Location:117246
      PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
      pfam00169
      Location:124240
      PH; PH domain
      pfam01237
      Location:382720
      Oxysterol_BP; Oxysterol-binding protein
    5. NM_020841.5NP_065892.1  oxysterol-binding protein-related protein 8 isoform a

      See identical proteins and their annotated locations for NP_065892.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF392452, AL832876
      Consensus CDS
      CCDS31862.1
      UniProtKB/Swiss-Prot
      A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
      UniProtKB/TrEMBL
      Q5HYM3
      Related
      ENSP00000261183.3, ENST00000261183.8
      Conserved Domains (2) summary
      cd13286
      Location:142271
      PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
      pfam01237
      Location:407744
      Oxysterol_BP; Oxysterol-binding protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      76351797..76559771 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537856.4XP_011536158.1  oxysterol-binding protein-related protein 8 isoform X4

      See identical proteins and their annotated locations for XP_011536158.1

      UniProtKB/TrEMBL
      Q5HYM3
      Conserved Domains (3) summary
      cd13286
      Location:155284
      PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
      pfam00169
      Location:162278
      PH; PH domain
      pfam01237
      Location:420758
      Oxysterol_BP; Oxysterol-binding protein
    2. XM_017018769.3XP_016874258.1  oxysterol-binding protein-related protein 8 isoform X6

      UniProtKB/TrEMBL
      Q5HYM3
      Conserved Domains (3) summary
      cd13286
      Location:139268
      PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
      pfam00169
      Location:146262
      PH; PH domain
      pfam01237
      Location:404742
      Oxysterol_BP; Oxysterol-binding protein
    3. XM_047428251.1XP_047284207.1  oxysterol-binding protein-related protein 8 isoform X5

      UniProtKB/Swiss-Prot
      A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
      UniProtKB/TrEMBL
      Q5HYM3
    4. XM_047428249.1XP_047284205.1  oxysterol-binding protein-related protein 8 isoform X4

      UniProtKB/TrEMBL
      Q5HYM3
    5. XM_047428250.1XP_047284206.1  oxysterol-binding protein-related protein 8 isoform X5

      UniProtKB/Swiss-Prot
      A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
      UniProtKB/TrEMBL
      Q5HYM3
    6. XM_011537857.4XP_011536159.1  oxysterol-binding protein-related protein 8 isoform X4

      See identical proteins and their annotated locations for XP_011536159.1

      UniProtKB/TrEMBL
      Q5HYM3
      Conserved Domains (3) summary
      cd13286
      Location:155284
      PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
      pfam00169
      Location:162278
      PH; PH domain
      pfam01237
      Location:420758
      Oxysterol_BP; Oxysterol-binding protein
    7. XM_047428254.1XP_047284210.1  oxysterol-binding protein-related protein 8 isoform X9

      UniProtKB/TrEMBL
      Q5HYM3
    8. XM_005268621.6XP_005268678.1  oxysterol-binding protein-related protein 8 isoform X5

      See identical proteins and their annotated locations for XP_005268678.1

      UniProtKB/Swiss-Prot
      A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
      UniProtKB/TrEMBL
      Q5HYM3
      Conserved Domains (2) summary
      cd13286
      Location:142271
      PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
      pfam01237
      Location:407744
      Oxysterol_BP; Oxysterol-binding protein
    9. XM_047428247.1XP_047284203.1  oxysterol-binding protein-related protein 8 isoform X3

      UniProtKB/TrEMBL
      Q5HYM3
    10. XM_017018768.3XP_016874257.1  oxysterol-binding protein-related protein 8 isoform X2

      UniProtKB/TrEMBL
      Q5HYM3
      Conserved Domains (2) summary
      cd13286
      Location:165294
      PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
      pfam01237
      Location:430767
      Oxysterol_BP; Oxysterol-binding protein
    11. XM_047428246.1XP_047284202.1  oxysterol-binding protein-related protein 8 isoform X1

      UniProtKB/TrEMBL
      Q5HYM3
    12. XM_047428248.1XP_047284204.1  oxysterol-binding protein-related protein 8 isoform X4

      UniProtKB/TrEMBL
      Q5HYM3
    13. XM_047428255.1XP_047284211.1  oxysterol-binding protein-related protein 8 isoform X9

      UniProtKB/TrEMBL
      Q5HYM3
    14. XM_047428253.1XP_047284209.1  oxysterol-binding protein-related protein 8 isoform X8

      UniProtKB/TrEMBL
      Q5HYM3
    15. XM_047428252.1XP_047284208.1  oxysterol-binding protein-related protein 8 isoform X7

      UniProtKB/TrEMBL
      Q5HYM3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      76329717..76537711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371003.1XP_054226978.1  oxysterol-binding protein-related protein 8 isoform X4

      UniProtKB/TrEMBL
      Q5HYM3
    2. XM_054371011.1XP_054226986.1  oxysterol-binding protein-related protein 8 isoform X6

      UniProtKB/TrEMBL
      Q5HYM3
    3. XM_054371007.1XP_054226982.1  oxysterol-binding protein-related protein 8 isoform X5

      UniProtKB/Swiss-Prot
      A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
      UniProtKB/TrEMBL
      Q5HYM3
    4. XM_054371006.1XP_054226981.1  oxysterol-binding protein-related protein 8 isoform X5

      UniProtKB/Swiss-Prot
      A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
      UniProtKB/TrEMBL
      Q5HYM3
    5. XM_054371005.1XP_054226980.1  oxysterol-binding protein-related protein 8 isoform X4

      UniProtKB/TrEMBL
      Q5HYM3
    6. XM_054371013.1XP_054226988.1  oxysterol-binding protein-related protein 8 isoform X9

      UniProtKB/TrEMBL
      Q5HYM3
    7. XM_054371009.1XP_054226984.1  oxysterol-binding protein-related protein 8 isoform X5

      UniProtKB/Swiss-Prot
      A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
      UniProtKB/TrEMBL
      Q5HYM3
    8. XM_054371004.1XP_054226979.1  oxysterol-binding protein-related protein 8 isoform X4

      UniProtKB/TrEMBL
      Q5HYM3
    9. XM_054371010.1XP_054226985.1  oxysterol-binding protein-related protein 8 isoform X3

      UniProtKB/TrEMBL
      Q5HYM3
    10. XM_054371008.1XP_054226983.1  oxysterol-binding protein-related protein 8 isoform X2

      UniProtKB/TrEMBL
      Q5HYM3
    11. XM_054371002.1XP_054226977.1  oxysterol-binding protein-related protein 8 isoform X10

      UniProtKB/TrEMBL
      Q5HYM3
    12. XM_054371012.1XP_054226987.1  oxysterol-binding protein-related protein 8 isoform X7

      UniProtKB/TrEMBL
      Q5HYM3