FIGURE: 1 / 3
Sequence of this protein is as follows: MSYSVTLTGP GPWGFRLQGG KDFNMPLTIS RITPGSKAAQ SQLSQGDLVV AIDGVNTDTM THLEAQNKIK SASYNLSLTL QKSKRPIPIS TTAPPVQTPL PVIPHQKVVV NSPANADYQE RFNPSALKDS ALSTHKPIEV KGLGGKATII HAQYNTPISM YSQDAIMDAI AGQAQAQGSD FSGSLPIKDL AVDSASPVYQ AVIKSQNKPE DEADEWARRS SNLQSRSFRI LAQMTGTEFM QDPDEEALRR SRERFETERN SPRFAKLRNW HHGLSAQILN VKS
This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains.
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Protein Aliases: cardiomyopathy, dilated 1C (autosomal dominant); FLJ35865; HGNC:15710; KIAA01613; LDB3; LIM domain-binding protein 3; PDZ and LIM domain 6; Protein cypher; Z-band alternatively spliced PDZ motif protein; Z-band alternatively spliced PDZ-motif protein
Gene Aliases: CMD1C; CMH24; CMPD3; CYPHER; KIAA0613; LDB3; LDB3Z1; LDB3Z4; LVNC3; MFM4; ORACLE; PDLIM6; ZASP
UniProt ID: (Human) O75112
Entrez Gene ID: (Human) 11155
Molecular Function: actin or actin-binding cytoskeletal protein