C1qtnf5 - C1q and tumor necrosis factor related protein 5 Gene
Also Known as Adie; Mfrp; Ctrp5
Species: Mus musculus
Summary
The protein encoded by this gene is a member of the C1q/tumor necrosis factor superfamily. This family member is a secretory protein that functions in eye development. Mutations in this gene are thought to underlie the pathophysiology of late-onset retinal degeneration (L-ORD) and early-onset long anterior zonules (LAZ). Bicistronic transcripts composed of the coding sequences for this gene (C1qtnf5) and the membrane-type frizzled-related protein gene (Mfrp) have been identified, and the resulting products can interact with each Other. Co-transcription of C1qtnf5 and Mfrp has been observed in both human and mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
C1qtnf5 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001040631.2 | NP_001035721.1 | complement C1q tumor necrosis factor-related protein 5 precursor |
| NM_001040632.2 | NP_001035722.1 | complement C1q tumor necrosis factor-related protein 5 precursor |
| NM_001190313.1 | NP_001177242.1 | complement C1q tumor necrosis factor-related protein 5 precursor |
| NM_001190319.1 | NP_001177248.1 | complement C1q tumor necrosis factor-related protein 5 precursor |
| NM_145613.4 | NP_663588.2 | complement C1q tumor necrosis factor-related protein 5 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IDA
IDA: Inferred from direct assay
|
17122142 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16600989 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within inner ear development |
IDA
IDA: Inferred from direct assay
|
21795542 | MGI |
| acts upstream of or within protein secretion |
IMP
IMP: Inferred from mutant phenotype
|
17122142 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in apical plasma membrane |
IDA
IDA: Inferred from direct assay
|
17122142 | MGI |
| located in bicellular tight junction |
IDA
IDA: Inferred from direct assay
|
17122142 | MGI |
| located in cell projection |
IDA
IDA: Inferred from direct assay
|
17122142 | MGI |
| located in extracellular region |
IDA
IDA: Inferred from direct assay
|
17122142 | MGI |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
18783346 | MGI |
| located in lateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
17122142 | MGI |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
17122142 | MGI |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
17122142 | MGI |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
18783346 | MGI |
| located in transport vesicle |
IDA
IDA: Inferred from direct assay
|
17122142 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
complement C1q tumor necrosis factor-related protein 5 |
|