P0CAP1
uniprot
P0CAP1
canonical
amino_acid_sequence
MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIKDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLEGENNELQSRLDYLTETQAKTEVETREIGVGCDLLPSQTGRTREIVMPSRNYTPYTRVLELTMKKTLT
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 2K (CMD2K) [MIM:620894]: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2K is an autosomal recessive form characterized by predominantly left ventricular involvement, although patients with biventricular disease have been observed. {ECO:0000269|PubMed:34899865, ECO:0000269|PubMed:35840178, ECO:0000269|PubMed:38436102}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF (By similarity). Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
54206
uniprot
proteins
mutagenesis
MUTAGEN 436; /note="Q->G: No effect on DYNLL1-binding; when associated with G-448."; /evidence="ECO:0000269|PubMed:20412299"; MUTAGEN 448; /note="R->G: No effect on DYNLL1-binding; when associated with G-436."; /evidence="ECO:0000269|PubMed:20412299"; MUTAGEN 450; /note="Y->G: No effect on DYNLL1-binding."; /evidence="ECO:0000269|PubMed:20412299
uniprot
proteins
protein_family
MYZAP family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15233991
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18849881
uniprot
proteins
pubmed
20093627
uniprot
proteins
pubmed
20412299
uniprot
proteins
pubmed
21240187
uniprot
proteins
pubmed
29034528
uniprot
proteins
pubmed
34899865
uniprot
proteins
pubmed
35840178
uniprot
proteins
pubmed
38436102
uniprot
proteins
sequence_length
466
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q5EB94}. Cell membrane {ECO:0000250|UniProtKB:Q5EB94}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q5EB94}; Cytoplasmic side {ECO:0000250|UniProtKB:Q5EB94}. Cytoplasm, myofibril, sarcomere, I band {ECO:0000250|UniProtKB:Q5EB94}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:Q5EB94}. Cell junction {ECO:0000269|PubMed:18849881, ECO:0000269|PubMed:21240187}. Note=Detected predominantly at the intercalated disk in cardiomyocytes, and at low levels on sarcomeric Z disks. Colocalizes with F-actin. Colocalizes with cortical actin. {ECO:0000250|UniProtKB:Q5EB94}.
uniprot
proteins