Scaffolding anchor of CK1 domain
IPR012461
Definition
This entry represents the scaffolding anchor of CK1 domain (SACK1 domain) found at the N-terminal of FAM83 proteins, which includes FAM83A-H. This domain was formerly known as DUF1669 and it has been identified as a CK1 binding domain, which allows the correct subcellular localisation of both FAM83 proteins and the CK1 binding partners and their function PMID:29789297. These proteins are involved in diverse biological processes, depending on their subcellular localisation and binding partners. FAM83A-H interact with the alpha and alpha-like isoforms of CK1, while FAM83A, B, E, and H also interact with the delta and epsilon isoforms of CK1. FAM83 members have been described as oncogenes that function as intermediaries in EGFR/RAS signalling PMID:27221039. They activate both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signalling cascades [[cite:PMID:27221039], [cite:PMID:23676467], [cite:PMID:23912460], [cite:PMID:22886303]]. FAM83D has been reported to localize to the mitotic spindle and interact with the chromokinesin kinesin family member 22 (KIF22, also called Kid), the microtubule-binding protein hyaluronan-mediated motility receptor (HMMR), and the light chain of the motor protein dynein (DYNLL1) to correctly orient the metaphase plate in mitosis PMID:18485706. FAM83G, also known as PAWS1 [protein associated with suppressor of mothers against decapentaplegic 1 (SMAD1)] interacts with the transcription factor SMAD1 and promotes the transcription of non-canonical bone morphogenetic protein (BMP) target genes PMID:24554596. FAM83H mutations have been reported in both familial and spontaneous cases of amelogenesis imperfecta (AI) [[cite:PMID:29789297], [cite:PMID:18252228]].
8 human proteins with this domain
Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.
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