1. Gene
  2. OSBPL5 - oxysterol binding protein like 5 Gene

OSBPL5 - oxysterol binding protein like 5 Gene

Homo sapiens

Also known as ORP5; OBPH1

Gene ID: 114879 | Gene type: protein coding

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

OSBPL5 Protein Structure

PH

PH: PH domain (129 - 242)

Oxysterol_BP

Oxysterol_BP: Oxysterol-binding protein (371 - 711)

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  • 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