OSBPL5 - oxysterol binding protein like 5 Gene

Also Known as ORP5; OBPH1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 114879

About OSBPL5

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:3,087,107-3,165,310 (from NCBI)

This gene has 19 transcripts (splice variants), 196 orthologues and 11 paralogues. Ubiquitous expression in spleen (RPKM 7.8), endometrium (RPKM 5.8) and 24 other tissues.

Summary

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of Cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]

OSBPL5 Products (3)

mRNA Protein Name
NM_001144063.2 NP_001137535.1 oxysterol-binding protein-related protein 5 isoform b
NM_020896.4 NP_065947.1 oxysterol-binding protein-related protein 5 isoform a
NM_145638.3 NP_663613.1 oxysterol-binding protein-related protein 5 isoform b
Molecular Function GO Annotation Evidence References Source
enables cholesterol binding IDA
IDA: Inferred from direct assay
17428193 GOA
enables phosphatidylinositol-4-phosphate binding IDA
IDA: Inferred from direct assay
26206935 GOA
enables phosphatidylserine binding IDA
IDA: Inferred from direct assay
23934110 GOA
enables phosphatidylserine transfer activity IDA
IDA: Inferred from direct assay
26206935 GOA
Biological Process GO Annotation Evidence References Source
involved in phospholipid transport IDA
IDA: Inferred from direct assay
26206935 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum-plasma membrane contact site IDA
IDA: Inferred from direct assay
26206935 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OSBPL5 Protein Structure

PH

PH: PH domain (129 - 242)

Oxysterol_BP

Oxysterol_BP: Oxysterol-binding protein (371 - 711)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 879 a.a.
Protein Preferred Names Protein Names

oxysterol-binding protein-related protein 5

  • ORP-5

Related Diseases

Diseases Alias
Lenz-Majewski Hyperostotic Dwarfism
  • Lenz-Majewski Syndrome

  • Lenz Majewski Hyperostotic Dwarfism

  • LMHD

  • Hyperostotic Dwarfism Lenz-Majewski Type

  • Lenz-Majewski Hyperostotic Dysplasia

  • Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis

  • Lms

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta OSBPL5 VGNC VGNC:75628
Felis catus OSBPL5 VGNC VGNC:63980
Rattus norvegicus OSBPL5 RGD RGD:1308402
Mus musculus OSBPL5 MGD MGI:1930265
Bos taurus OSBPL5 VGNC VGNC:32463
Canis familiaris OSBPL5 VGNC VGNC:58324
Others OSBPL5 NCBI