HUMAN:TELT

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	TCAP
Protein Name(s)	Telethonin Titin cap protein
External Links
UniProt	O15273
EMBL	AJ000491 AJ010063 AJ011098 BC012628 BC013330
CCDS	CCDS11342.1
RefSeq	NP_003664.1
UniGene	Hs.77628
PDB	1YA5 2F8V
PDBsum	1YA5 2F8V
ProteinModelPortal	O15273
SMR	O15273
BioGrid	114127
DIP	DIP-35730N
IntAct	O15273
MINT	MINT-145661
STRING	9606.ENSP00000312624
PhosphoSite	O15273
PaxDb	O15273
PRIDE	O15273
DNASU	8557
Ensembl	ENST00000309889
GeneID	8557
KEGG	hsa:8557
UCSC	uc002hsh.3
CTD	8557
GeneCards	GC17P037818
GeneReviews	TCAP
HGNC	HGNC:11610
HPA	CAB004591 HPA026477
MIM	192600 601954 604488 607487
neXtProt	NX_O15273
Orphanet	34514 154 155
PharmGKB	PA36370
eggNOG	NOG43340
GeneTree	ENSGT00390000012014
HOGENOM	HOG000237275
HOVERGEN	HBG004497
InParanoid	O15273
OMA	GCSLHEE
OrthoDB	EOG76MK9Q
PhylomeDB	O15273
TreeFam	TF333228
Reactome	REACT_16969
ChiTaRS	TCAP
EvolutionaryTrace	O15273
GeneWiki	Telethonin
GenomeRNAi	8557
NextBio	32073
PRO	PR:O15273
Proteomes	UP000005640
Bgee	O15273
CleanEx	HS_TCAP
ExpressionAtlas	O15273
Genevestigator	O15273
GO	GO:0005829 GO:0031674 GO:0030018 GO:0051373 GO:0044325 GO:0030674 GO:0008307 GO:0031432 GO:0070080 GO:0007512 GO:0060048 GO:0048739 GO:0003300 GO:0014898 GO:0055008 GO:0055003 GO:0050982 GO:0035995 GO:0030049 GO:0030916 GO:0006461 GO:0035994 GO:0045214 GO:0048769 GO:0003009 GO:0030241 GO:0030240 GO:0001756
Gene3D	2.20.160.10
InterPro	IPR015667 IPR023111
PANTHER	PTHR15143
Pfam	PF09470

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
enables	GO:0036122	BMP binding	PMID:17921333^[1]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:O95393	F	Seeded From UniProt	complete
enables	GO:0070080	titin Z domain binding	PMID:11846417^[2]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q8WZ42	F	Seeded From UniProt	complete
involved_in	GO:0060048	cardiac muscle contraction	PMID:15582318^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0060048	cardiac muscle contraction	PMID:12507422^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0055008	cardiac muscle tissue morphogenesis	PMID:9817758^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0055003	cardiac myofibril assembly	PMID:9817758^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0051373	FATZ binding	PMID:15582318^[3]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9NPC6	F	Seeded From UniProt	complete
involved_in	GO:0048769	sarcomerogenesis	PMID:9817758^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0048739	cardiac muscle fiber development	PMID:9817758^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045214	sarcomere organization	PMID:9817758^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0044325	ion channel binding	PMID:11697903^[6]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P15382	F	Seeded From UniProt	complete
involved_in	GO:0035995	detection of muscle stretch	PMID:12507422^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0031674	I band	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O70548	C	Seeded From UniProt	complete
enables	GO:0031432	titin binding	PMID:15582318^[3]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q8WZ42	F	Seeded From UniProt	complete
enables	GO:0031432	titin binding	PMID:9817758^[5]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:O97791	F	Seeded From UniProt	complete
enables	GO:0031432	titin binding	PMID:11846417^[2]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q8WZ42	F	Seeded From UniProt	complete
enables	GO:0030674	protein binding, bridging	PMID:15582318^[3]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0030241	skeletal muscle myosin thick filament assembly	PMID:9817758^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0030240	skeletal muscle thin filament assembly	PMID:9817758^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:9817758^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:17921333^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0014898	cardiac muscle hypertrophy in response to stress	PMID:12507422^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0008307	structural constituent of muscle	PMID:9817758^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0007512	adult heart development	PMID:9817758^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0003300	cardiac muscle hypertrophy	PMID:15582318^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0003009	skeletal muscle contraction	PMID:9817758^[5]	ECO:0000270	expression pattern evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0031674	I band	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70548 ensembl:ENSMUSP00000008021	C	Seeded From UniProt	complete
involved_in	GO:0030916	otic vesicle formation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70548 ensembl:ENSMUSP00000008021	P	Seeded From UniProt	complete
part_of	GO:0030018	Z disc	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70548 ensembl:ENSMUSP00000008021	C	Seeded From UniProt	complete
involved_in	GO:0007512	adult heart development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70548 ensembl:ENSMUSP00000008021	P	Seeded From UniProt	complete
involved_in	GO:0001756	somitogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70548 ensembl:ENSMUSP00000008021	P	Seeded From UniProt	complete
enables	GO:0008307	structural constituent of muscle	PMID:9350988^[7]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0065003	protein-containing complex assembly	PMID:9817758^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0050982	detection of mechanical stimulus	PMID:17921333^[1]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045214	sarcomere organization	PMID:17921333^[1]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0035994	response to muscle stretch	PMID:17921333^[1]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0030049	muscle filament sliding	Reactome:R-HSA-390522	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-390598 Reactome:R-HSA-390597 Reactome:R-HSA-390595 Reactome:R-HSA-390593	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C	Seeded From UniProt	complete
part_of	GO:0030017	sarcomere	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0313	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 Nakano, N et al. (2007) Interaction of BMP10 with Tcap may modulate the course of hypertensive cardiac hypertrophy. Am. J. Physiol. Heart Circ. Physiol. 293 H3396-403 PubMed GONUTS page
↑ ^2.0 ^2.1 Itoh-Satoh, M et al. (2002) Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 291 385-93 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 Hayashi, T et al. (2004) Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J. Am. Coll. Cardiol. 44 2192-201 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Knöll, R et al. (2002) The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 111 943-55 PubMed GONUTS page
↑ ^5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 ^5.11 ^5.12 Gregorio, CC et al. (1998) The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. J. Cell Biol. 143 1013-27 PubMed GONUTS page
↑ Furukawa, T et al. (2001) Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. J. Mol. Biol. 313 775-84 PubMed GONUTS page
↑ Valle, G et al. (1997) Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS Lett. 415 163-8 PubMed GONUTS page

[PMID:17921333-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 Nakano, N et al. (2007) Interaction of BMP10 with Tcap may modulate the course of hypertensive cardiac hypertrophy. Am. J. Physiol. Heart Circ. Physiol. 293 H3396-403 PubMed GONUTS page

[PMID:11846417-2] 2.0 ^2.1 Itoh-Satoh, M et al. (2002) Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 291 385-93 PubMed GONUTS page

[PMID:15582318-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 Hayashi, T et al. (2004) Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J. Am. Coll. Cardiol. 44 2192-201 PubMed GONUTS page

[PMID:12507422-4] 4.0 ^4.1 ^4.2 Knöll, R et al. (2002) The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 111 943-55 PubMed GONUTS page

[PMID:9817758-5] 5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 ^5.11 ^5.12 Gregorio, CC et al. (1998) The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. J. Cell Biol. 143 1013-27 PubMed GONUTS page

[PMID:11697903-6] Furukawa, T et al. (2001) Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. J. Mol. Biol. 313 775-84 PubMed GONUTS page

[PMID:9350988-7] Valle, G et al. (1997) Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS Lett. 415 163-8 PubMed GONUTS page

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HUMAN:TELT

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