1. Gene
  2. OSBPL9 - oxysterol binding protein like 9 Gene

OSBPL9 - oxysterol binding protein like 9 Gene

Homo sapiens

Also known as ORP9; ORP-9

Gene ID: 114883 | Gene type: protein coding

About OSBPL9

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:51,617,092-51,789,219 (from NCBI)

This gene has 27 transcripts (splice variants), 220 orthologues and 11 paralogues. Ubiquitous expression in kidney (RPKM 20.1), thyroid (RPKM 18.0) and 25 other tissues.

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]

OSBPL9 Products(11)

mRNA Protein Name
NM_001330580.2 NP_001317509.1 oxysterol-binding protein-related protein 9 isoform g
NM_001350208.2 NP_001337137.1 oxysterol-binding protein-related protein 9 isoform h
NM_001350209.2 NP_001337138.1 oxysterol-binding protein-related protein 9 isoform h
NM_001350210.2 NP_001337139.1 oxysterol-binding protein-related protein 9 isoform i
NM_024586.6 NP_078862.4 oxysterol-binding protein-related protein 9 isoform e
NM_148904.4 NP_683702.1 oxysterol-binding protein-related protein 9 isoform a
NM_148905.4 NP_683703.1 oxysterol-binding protein-related protein 9 isoform a
NM_148906.3 NP_683704.2 oxysterol-binding protein-related protein 9 isoform b
NM_148907.3 NP_683705.1 oxysterol-binding protein-related protein 9 isoform c
NM_148908.4 NP_683706.3 oxysterol-binding protein-related protein 9 isoform d
NM_148909.4 NP_683707.3 oxysterol-binding protein-related protein 9 isoform f
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19615732 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

OSBPL9 Protein Structure

PH

PH: PH domain (4 - 97)

Oxysterol_BP

Oxysterol_BP: Oxysterol-binding protein (375 - 717)

  • 0
  • 200
  • 400
  • 600
  • 736 a.a.
Protein Preferred Names Protein Names

oxysterol-binding protein-related protein 9

OSBP-related protein 9

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

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
Felis catus OSBPL9 VGNC VGNC:63984
Canis familiaris OSBPL9 VGNC VGNC:44159
Bos taurus OSBPL9 VGNC VGNC:32467
Rattus norvegicus OSBPL9 RGD RGD:1311508
Mus musculus OSBPL9 MGD MGI:1923784
Macaca mulatta OSBPL9 VGNC VGNC:75625