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Sequence in raw or FASTA format:

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TCAP titin-cap [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu18837 NM_003673 Homo sapiens titin-cap (TCAP), mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu18837C NM_003673 Homo sapiens titin-cap (TCAP), mRNA. Customized vector On-demand 7-9 $209.00

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Gene Symbol TCAP
Entrez Gene ID 8557
Full Name titin-cap
Synonyms CMD1N, LGMD2G, T-cap, TELE, telethonin
General protein information
Preferred Names
telethonin
Names
telethonin
titin cap protein
19 kDa sarcomeric protein
limb girdle muscular dystrophy 2G (autosomal recessive)
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q12

Summary Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008].
Disorder

MIM: 604488

Muscular dystrophy, limb-girdle, type 2G, 601954 (3);

mRNA Protein Product Sequence Price Select
NM_003673, 209862803 NP_003664, 4507435 telethonin ORF Sequence $250.00
WikiPathways
WP383Striated Muscle Contraction
Reactome
REACT_17044Muscle contraction
REACT_16969Striated Muscle Contraction
Homo sapiens (human)TCAPNP_003664.1
Pan troglodytes (chimpanzee)TCAPXP_511458.3
Macaca mulatta (Rhesus monkey)TCAPXP_001089621.1
Canis lupus familiaris (dog)TCAPNP_001128597.1
Bos taurus (cattle)TCAPNP_001014915.1
Mus musculus (house mouse)TcapNP_035670.2
Danio rerio (zebrafish)tcapXP_684103.1
Xenopus (Silurana) tropicalis (western clawed frog)tcapXP_002940414.1
Process
IDNameEvidence
GO:0001756somitogenesisIEA
GO:0003009skeletal muscle contractionIEP
GO:0003300cardiac muscle hypertrophyIMP
GO:0006461protein complex assemblyTAS
GO:0007512adult heart developmentIMP
GO:0014898cardiac muscle hypertrophy in response to stressIMP
GO:0030049muscle filament slidingTAS
GO:0030240skeletal muscle thin filament assemblyIMP
GO:0030241skeletal muscle myosin thick filament assemblyIMP
GO:0030916otic vesicle formationIEA
GO:0035994response to muscle stretchTAS
GO:0035995detection of muscle stretchIMP
GO:0045214sarcomere organizationIMP
GO:0045214sarcomere organizationTAS
GO:0048739cardiac muscle fiber developmentIMP
GO:0048769sarcomerogenesisIMP
GO:0050982detection of mechanical stimulusTAS
GO:0055003cardiac myofibril assemblyIMP
GO:0055008cardiac muscle tissue morphogenesisIMP
GO:0060048cardiac muscle contractionIMP
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0030018Z discIDA
GO:0031674I bandISS
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0008307structural constituent of muscleIMP
GO:0030674protein binding, bridgingIDA
GO:0031432titin bindingIPI
GO:0044325ion channel bindingIPI
GO:0051373FATZ bindingIPI
GO:0070080titin Z domain bindingIPI
GeneCards TCAP
PDB 2F8V, 1YA5
UniProt O15273, A2TDC0
MIM 604488
HGNC 11610
HPRD 05133

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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