TTN

TTN
Strwythurau
PDB	Human UniProt search: A2ASS6%20or%20H0Y4J7 PDBe A2ASS6,H0Y4J7 RCSB
Rhestr o ddynodwyr PDB
	4UOW, 1BPV, 1G1C, 1NCT, 1NCU, 1TIT, 1TIU, 1TKI, 1TNM, 1TNN, 1WAA, 1YA5, 2A38, 2BK8, 2F8V, 2ILL, 2J8H, 2J8O, 2NZI, 2RQ8, 2WP3, 2WWK, 2WWM, 2Y9R, 3KNB, 3LCY, 3LPW, 3PUC, 3Q5O, 3QP3, 4C4K, 4JNW, 4O00, 4QEG, 5BS0
Dynodwyr
Cyfenwau	TTN, CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, MYLK5, TMD, titin, SALMY, LGMDR10
Dynodwyr allanol	OMIM: 188840 HomoloGene: 130650 GeneCards: TTN
EC number	2.7.11.1
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• transferase activity; • nucleotide binding; • calcium ion binding; • protein kinase activity; • actinin binding; • muscle alpha-actinin binding; • structural molecule activity conferring elasticity; • metal ion binding; • telethonin binding; • protease binding; • protein self-association; • actin filament binding; • protein serine/threonine kinase activity; • kinase activity; • GO:0001948, GO:0016582 protein binding; • identical protein binding; • enzyme binding; • protein tyrosine kinase activity; • structural constituent of muscle; • ATP binding; • protein kinase binding; • calmodulin binding; • structural constituent of cytoskeleton; • ankyrin binding;
Cydrannau o'r gell	• cytoplasm; • cytosol; • I band; • striated muscle thin filament; • condensed nuclear chromosome; • extracellular region; • Z discdkac; • muscle myosin complex; • extracellular exosome; • cnewyllyn cell; • M band; • sarcomere; • A band; • Myoffibril;
Prosesau biolegol	• sarcomerogenesis; • muscle contraction; • mitotic chromosome condensation; • cardiac muscle contraction; • phosphorylation; • cardiac muscle hypertrophy; • platelet degranulation; • cardiac muscle tissue morphogenesis; • skeletal muscle thin filament assembly; • detection of muscle stretch; • response to calcium ion; • cardiac myofibril assembly; • protein phosphorylation; • muscle filament sliding; • regulation of protein kinase activity; • GO:0048552 regulation of catalytic activity; • sarcomere organization; • skeletal muscle myosin thick filament assembly; • striated muscle contraction; • peptidyl-tyrosine phosphorylation; • GO:1901313 positive regulation of gene expression; • protein kinase A signaling; • positive regulation of protein secretion; • somitogenesis; • ventricular system development; • in utero embryonic development; • heart morphogenesis; • striated muscle cell development; • heart growth; • adult heart development; • forward locomotion; • heart development; • regulation of relaxation of cardiac muscle; • actin filament organization; • striated muscle myosin thick filament assembly;
	Sources:Amigo / QuickGO
Orthologau
	7273
	n/a
	ENSG00000155657
	n/a
	Q8WZ42
	n/a
NM_001256850; NM_001267550; NM_003319; NM_133378; NM_133379;
	NM_133432; NM_133437
	n/a
NP_001243779; NP_001254479; NP_003310; NP_596869; NP_596870;
	NP_597676; NP_597681; NP_035782; NP_082280; NP_001372637
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn TTN yw TTN a elwir hefyd yn Titin (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 2, band 2q31.2.^[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn TTN.

TMD
CMH9
CMD1G
CMPD4
EOMFC
HMERF
MYLK5
SALMY
LGMD2J

Llyfryddiaeth

"The pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei. ". Gene. 2018. PMID 29109008.
"Titin-Truncating Variants Increase the Risk of Cardiovascular Death in Patients With Hypertrophic Cardiomyopathy. ". Can J Cardiol. 2017. PMID 28822653.
"Human skeletal muscle type 1 fibre distribution and response of stress-sensing proteins along the titin molecule after submaximal exhaustive exercise. ". Histochem Cell Biol. 2017. PMID 28712031.
"Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome. ". PLoS One. 2017. PMID 28704380.
"A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.". Eur J Hum Genet. 2017. PMID 28295036.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] TTN - Cronfa NCBI

[1]

[2]