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COCH - coagulation factor C homolog, cochlin (Limulus polyphemus)
Canonical
Pathway
Entrez Gene Name: coagulation factor C homolog, cochlin (Limulus polyphemus)
Entrez GeneID: Human(1690)
, Mouse(12810), Rat(362735)
, Mouse(12810), Rat(362735) Synonyms: AW122937, COCH, COCH-5B2, COCHLIN, D12H14S564E, DFNA9, Lulu
Gene Summary
- Human (1690): The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Regulates:
| Role in cell:
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Literature References
- 17687037Wang JT, Kunzevitzky NJ, Dugas JC, Cameron M, Barres BA, Goldberg JL. Disease gene candidates revealed by expression profiling of retinal ganglion cell development.J Neurosci 2007 Aug 08;27(32):8593-603
- 14657014Rodriguez CI, Cheng JG, Liu L, Stewart CL. Cochlin, a secreted VWA domain containing factor, is regulated by LIF in the uterus at the time of embryo implantation.Endocrinology 2004 03 1;145(3):1410-8
- 17519223Kuhn A, Goldstein DR, Hodges A, Strand AD, Sengstag T, Kooperberg C, Becanovic K, Pouladi MA, Sathasivam K, Cha JH, Hannan AJ, Hayden MR, Leavitt BR, Dunnett SB, Ferrante RJ, Albin R, Shelbourne P, Delorenzi M, Augood SJ, Faull RL, Olson JM, Bates GP, Jones L, Luthi-Carter R. Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage.Hum Mol Genet 2007 Aug 01;16(15):1845-61
Subcellular Locations
Cytoplasm, endoplasmic reticulum/Golgi apparatus fractions, Extracellular Space, Nucleus