6gy4

Crystal structure of the N-terminal KH domain of human BICC1Crystal structure of the N-terminal KH domain of human BICC1

Structural highlights

6gy4 is a 4 chain structure. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:	, ,
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

[BICC1_HUMAN] Autosomal dominant polycystic kidney disease. Disease susceptibility is associated with variations affecting the gene represented in this entry.

Function

[BICC1_HUMAN] Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.^[1]

References

↑ Kraus MR, Clauin S, Pfister Y, Di Maio M, Ulinski T, Constam D, Bellanne-Chantelot C, Grapin-Botton A. Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. Hum Mutat. 2012 Jan;33(1):86-90. doi: 10.1002/humu.21610. Epub 2011 Oct 31. PMID:21922595 doi:http://dx.doi.org/10.1002/humu.21610

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OCA

[1] Kraus MR, Clauin S, Pfister Y, Di Maio M, Ulinski T, Constam D, Bellanne-Chantelot C, Grapin-Botton A. Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. Hum Mutat. 2012 Jan;33(1):86-90. doi: 10.1002/humu.21610. Epub 2011 Oct 31. PMID:21922595 doi:http://dx.doi.org/10.1002/humu.21610

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