CEFIP
entrez
118461
canonical
uniprot
Q711Q0
canonical
ensembl
ENSG00000177354
resolver
ensp
ENSP00000363259
resolver
ensp
ENSP00000532470
resolver
genesymbol
CEFIP
resolver
genesymbol_syn
C10orf71
resolver
hgnc
HGNC:26973
resolver
uniprot
A0AVL8
resolver
uniprot_entry
CEFIP_HUMAN
resolver
uniprot_sec
A0AVL8
resolver
amino_acid_sequence
MMQGNKKCTDAFSDSSSIGSVLDDADREVSSLTDRAFRSLCISEDTSFHDSYLAVSPDITRQVFGTFHQRTVGHTQRKSGIWSQLPSQGTEHSGWAATFQQLPKYVQGEEKYPKTSPPPTPVQRRLEVPVSGLRSSNKPVSKVSTLIKSFDRTESQRCESRPTASKPPALKNPPKFAPLPENSVNFCFDSAFLTVRRVPAEVSNTHQNSYQPGRKHGEQESSKNPEMACHGSSSFLPAANDTATLCESKFPSPHHKPVTGEPGRGKGTFLHSENSAFESWNAHQPKLLERKDTAGTVPESKAPKHYGDTTLLREPCPPERTVSPCQVQASCSQEENRLAAGALSTSIPWGCRDPGAQVFAVEGKAPSSQPDSQEKPAQPPWRKPKTGKKGKESLQDTLEEKTQTNQRGPPLYTKHNPQEQFSENNALDLPVEPNEHYDPPFNISKLLTPIIPSKHALDSADSQPAERTPSPPGQLNGYQEKEPSECQSRDSYKSKAPSLLFNLKDVRKRVKSTYSSSPLLKVLDEKTRGKVDGKQEPVSNGVILPNGLEESPPNELSKERPADDPTASHINPQKDPTADPSEPSADSYLTLSTAPTIAKAPFYVNGEAAERSSYENKEVEGELEMGPAGSSWCPDSREHRPRKHLSLRLCNRDPEPGGATEKMKTHQLENGLSRSVSQETEPEREAGLQNTHLNQKFFPGPLSPEEEDVFYSDSQSDFMPSLKGKAKFSTSSSDQSFASFDDQQKMWFTENQREDRRKDVSAGDSQKDEKENVMRKDELQYCALSNGHACLENRSQGEALQRERESVSGGRTRKASAEEANFRGSWIGENKGTTFSQAKDLTPSPSSASNRHMLFTIKDNTLRATPVIKPIMLPLLRTMSLEDSLSSGHKEEELPRPEWGEDPGFCAPENQDILGTSTPTNTRGTRVKCMANEVMEDPGQGSSMARMEASQPAPKGNFPSMPLVGEGDRVKAPPDAAPGLVASNCKSGSADSGKLAAPWHIPTIALPEGDIEDQPPPWQPENCWEEQTPGFKSHFLSTPRAGPPGRRLVPSERANSPNPGSPGESSACSPAASNIWEESSQAPGGPELLPEEPNQASPWASSSPARVTRREDLTHALVWEGGSDPLLELSAEDLRTLSPRGSLLDVATSPAGTSGRLELPAQLERTASKPPAVPPKTEKALRRAKKLASKRRKTDQAQEKHGESQEGKPCPEDLEQTQQRPLCPRERPRHNFPVVRSLPPPVHRHSVSGFSEPVGRRPGGPQSLTPLPAYPATQKVLQDPQSGEYFVFDLPLQVKIKTFYDPETGKYVKVSIPSSEGASPEPPPPDALAAPYVLYPGFQPVPVTALMPLRCSSQLSAPTFLRQGPRASAARARTQSVHESGLQLDPGPHGDCTPHSAGQRPHGPPQSPGEEGVEAPGLGIISTDDLEDFATEGIS
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 1QQ (CMD1QQ) [MIM:621251]: 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. CMD1QQ is an autosomal dominant form. {ECO:0000269|PubMed:38950288}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Is an activator of the calcineurin/NFAT signaling pathway in cardiomyocytes, and is involved in myocardium morphogenesis, and regulation of myocardium mass and cardiac contractile function. {ECO:0000250|UniProtKB:M0RD54}.
uniprot
proteins
mass_dalton
156477
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28717008
uniprot
proteins
pubmed
38950288
uniprot
proteins
sequence_length
1435
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:M0RD54}.
uniprot
proteins