TCAP
entrez
8557
canonical
uniprot
O15273
canonical
ensembl
ENSG00000173991
resolver
ensp
ENSP00000312624
resolver
enst
ENST00000309889
resolver
genesymbol
TCAP
resolver
hgnc
HGNC:11610
resolver
uniprot
A2TDC0
resolver
uniprot
Q96L27
resolver
uniprot_entry
A2TDC0_HUMAN
resolver
uniprot_entry
TELT_HUMAN
resolver
uniprot_sec
Q96L27
resolver
amino_acid_sequence
MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHQQGQCQVLVQRSPWLMMRMGILGRGLQEYQLPYQRVLPLPIFTPAKMGATKEEREDTPIQLQELLALETALGGQCVDRQEVAEITKQLPPVVPVSKPGALRRSLSRSMSQEAQRG
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, familial hypertrophic, 25 (CMH25) [MIM:607487]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:15582318, ECO:0000269|PubMed:16352453}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 7 (LGMDR7) [MIM:601954]: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients. {ECO:0000269|PubMed:10655062}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.
uniprot
proteins
mass_dalton
19052
uniprot
proteins
pubmed
10655062
uniprot
proteins
pubmed
10984498
uniprot
proteins
pubmed
11842093
uniprot
proteins
pubmed
12507422
uniprot
proteins
pubmed
15136035
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15582318
uniprot
proteins
pubmed
16352453
uniprot
proteins
pubmed
16407954
uniprot
proteins
pubmed
16490376
uniprot
proteins
pubmed
16650785
uniprot
proteins
pubmed
16713295
uniprot
proteins
pubmed
24860983
uniprot
proteins
pubmed
9350988
uniprot
proteins
pubmed
9645487
uniprot
proteins
sequence_length
167
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:16713295}.
uniprot
proteins