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PMID:17122142

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Citation

Mandal, MN, Vasireddy, V, Reddy, GB, Wang, X, Moroi, SE, Pattnaik, BR, Hughes, BA, Heckenlively, JR, Hitchcock, PF, Jablonski, MM and Ayyagari, R (2006) CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion. Invest. Ophthalmol. Vis. Sci. 47:5505-13

Abstract

In a prior study, a S163R mutation in the complement-1q tumor necrosis factor-related protein 5 (CTRP5/ C1QTNF5) was reported to be associated with early-onset long anterior zonules (LAZ) and late-onset retinal degeneration (L-ORD). The ocular tissues involved in the phenotype are the retinal pigment epithelium (RPE) in the posterior segment and ciliary epithelium (CE) and lens in the anterior segment. The purpose of this study was to characterize the spatial and temporal expression of the mouse Ctrp5 gene, determine tissue and subcellular localization, and study the effect of the S163R mutation.

Links

PubMed Online version:10.1167/iovs.06-0312

Keywords

Animals; Blotting, Western; COS Cells; Cercopithecus aethiops; Ciliary Body/metabolism; Fluorescent Antibody Technique, Indirect; Gene Expression/physiology; In Situ Hybridization; Lens Diseases/genetics; Ligaments/abnormalities; Membrane Proteins/genetics; Membrane Proteins/metabolism; Mice; Mice, Inbred BALB C; Mice, Inbred C57BL; Microscopy, Immunoelectron; Mutagenesis, Site-Directed; Pigment Epithelium of Eye/metabolism; Point Mutation; Retinal Degeneration/genetics; Reverse Transcriptase Polymerase Chain Reaction; Transfection

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:ZO1

located_in

GO:0005886: plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:17172)

Seeded From UniProt

complete

MOUSE:C1QT5

located_in

GO:0016328: lateral plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0002303)
  • part_of:(EMAPA:35239)

Seeded From UniProt

complete

MOUSE:C1QT5

located_in

GO:0005923: bicellular tight junction

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:17172)

Seeded From UniProt

complete

MOUSE:C1QT5

located_in

GO:0005576: extracellular region

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:C1QT5

located_in

GO:0016020: membrane

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:C1QT5

acts_upstream_of_or_within

GO:0009306: protein secretion

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:C1QT5

enables

GO:0042802: identical protein binding

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

MOUSE:C1QT5

located_in

GO:0042995: cell projection

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:17172)

Seeded From UniProt

complete

MOUSE:C1QT5

located_in

GO:0030133: transport vesicle

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:17172)|part_of:(EMAPA:35239)

Seeded From UniProt

complete

MOUSE:C1QT5

located_in

GO:0005886: plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000066)
  • part_of:(EMAPA:17838)|part_of:(EMAPA:17172)

Seeded From UniProt

complete

MOUSE:C1QT5

located_in

GO:0016324: apical plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0002303)
  • part_of:(EMAPA:19065)|part_of:(CL:0002304)
  • part_of:(EMAPA:19065)

Seeded From UniProt

complete


See also

References

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