Aliases for TNNT1 Gene
Aliases for TNNT1 Gene
External Ids for TNNT1 Gene
- HGNC: 11948
- Entrez Gene: 7138
- Ensembl: ENSG00000105048
- OMIM: 191041
- UniProtKB: P13805
Previous GeneCards Identifiers for TNNT1 Gene
- GC19M056506
- GC19M056068
- GC19M060320
- GC19M060336
- GC19M055644
- GC19M051967
Summaries for TNNT1 Gene
-
This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for TNNT1 Gene
TNNT1 (Troponin T1, Slow Skeletal Type) is a Protein Coding gene. Diseases associated with TNNT1 include Nemaline Myopathy 5 and Nemaline Myopathy. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include tropomyosin binding and troponin T binding. An important paralog of this gene is TNNT2.
UniProtKB/Swiss-Prot for TNNT1 Gene
-
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Additional gene information for TNNT1 Gene
- Monarch Initiative
- Search for TNNT1 at DataMed
- Search for TNNT1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNT1 Gene
Genomics for TNNT1 Gene
GeneHancer (GH) Regulatory Elements for TNNT1 Gene
Promoters and enhancers for TNNT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TNNT1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TNNT1 gene promoter:
-
- E2F-5
- E2F-4
- E2F-3a
- E2F-2
- E2F-1
- E2F
- GATA-2
- CUTL1
- NF-kappaB1
- Gfi-1
Regulatory Element Products
Genomic Locations for TNNT1 Gene
Genomic Locations for TNNT1 Gene
- chr19:55,132,698-55,149,354
- (GRCh38/hg38)
- Size:
- 16,657 bases
- Orientation:
- Minus strand
- chr19:55,644,161-55,660,722
- (GRCh37/hg19)
- Size:
- 16,562 bases
- Orientation:
- Minus strand
Genomic View for TNNT1 Gene
Genes around TNNT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.42 by Entrez Gene
- 19q13.4 by HGNC
- 19q13.42 by Ensembl
TNNT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TNNT1 Gene
Proteins for TNNT1 Gene
-
Protein details for TNNT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P13805-TNNT1_HUMAN
- Recommended name:
- Troponin T, slow skeletal muscle
- Protein Accession:
- P13805
- O95472
- Q16061
- Q5U0E1
Protein attributes for TNNT1 Gene
- Size:
- 278 amino acids
- Molecular mass:
- 32948 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAH22086.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for TNNT1 Gene
Post-translational modifications for TNNT1 Gene
Other Protein References for TNNT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TNNT1
- Novus Biologicals Antibodies for TNNT1
- Invitrogen Antibodies for TNNT1
- GeneTex TNNT1 Antibody for TNNT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for TNNT1
Protein Products
-
OriGene Purified Proteins for TNNT1
- Search Origene for MassSpec and Protein Over-expression Lysates for TNNT1
- Origene Custom Protein Services for TNNT1
- GeneTex Proteins for TNNT1
Assay Products
No data available for DME Specific Peptides for TNNT1 Gene
Domains & Families for TNNT1 Gene
Gene Families for TNNT1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for TNNT1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TNNT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P13805- Family:
-
- Belongs to the troponin T family.
Function for TNNT1 Gene
Molecular function for TNNT1 Gene
- UniProtKB/Swiss-Prot Function:
- Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
- GENATLAS Biochemistry:
- troponin T1,slow skeletal muscle,four isoforms, component of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration,organized in pair with TNNT3,involved in the attachment of the complex to tropomyosin and troponin I
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IBA | -- |
| GO:0005515 | protein binding | IPI | 21516116 |
| GO:0005523 | tropomyosin binding | IMP | 15665378 |
| GO:0030899 | CONTRIBUTES_TO calcium-dependent ATPase activity | IBA | -- |
| GO:0031014 | troponin T binding | IEA | -- |
Phenotypes for TNNT1 Gene
- MGI mutant phenotypes for TNNT1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for TNNT1:
Animal Models for TNNT1 Gene
- MGI Knock Outs for TNNT1:
-
- Tnnt1 Tnnt1<tm1.2Jin>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TNNT1
-
CRISPR Products
-
OriGene CRISPR knockouts for TNNT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TNNT1
- genomics-online: gRNA clones - Search results for available TNNI1 gene related products
- Applied Biological Materials CRISPR for TNNT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TNNT1
- GenScript: Design CRISPR guide RNA sequences for TNNT1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TNNT1
- Browse OriGene Inhibitory RNA Products For TNNT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNT1
- genomics-online: shRNA clones - Search results for available TNNI1 gene related products
Clone Products
-
OriGene ORF clones in human for TNNT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TNNT1
- VectorBuilder custom plasmid, inducible vectors for TNNT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TNNT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TNNT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TNNT1
- genomics-online: cdna clones - Search results for available TNNI1 gene related products
- orf clones - Search results for available TNNI1 gene related products
- Applied Biological Materials Clones for TNNT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TNNT1
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for TNNT1 Gene
Localization for TNNT1 Gene
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 3 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (2)
- Golgi apparatus (2)
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005861 | troponin complex | IEA,IMP | 15665378 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNNT1 Gene
Pathways & Interactions for TNNT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Striated Muscle Contraction | ||
| 2 | Cardiac conduction | ||
Pathways by source for TNNT1 Gene
1 BioSystems pathway for TNNT1 Gene
2 Reactome pathways for TNNT1 Gene
Interacting Proteins for TNNT1 Gene
Selected Interacting proteins:
P13805-TNNT1_HUMAN
ENSP00000467176
for TNNT1 Gene via
IID
MINT
UniProtKB
STRING
GPS-Prot Interaction Network for TNNT1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003009 | skeletal muscle contraction | IMP | 10952871 |
| GO:0006936 | muscle contraction | IBA | -- |
| GO:0006937 | regulation of muscle contraction | IEA | -- |
| GO:0014883 | transition between fast and slow fiber | IEA | -- |
| GO:0030049 | muscle filament sliding | TAS | -- |
No data available for SIGNOR curated interactions for TNNT1 Gene
Drugs & Compounds for TNNT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Approved | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for TNNT1 Gene
mRNA/cDNA for TNNT1 Gene
- (7) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (579) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000291901 967 bps (uc002qjc.5)
- ENST00000356783 934 bps (uc002qje.5)
- ENST00000536926 901 bps (uc061cwq.1)
- ENST00000585321 995 bps (uc061cws.1)
- ENST00000586282 327 bps (uc061cwz.1)
Unigene Clusters for TNNT1 Gene
- Troponin T type 1 (skeletal, slow):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TNNT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TNNT1
- genomics-online: gRNA clones - Search results for available TNNI1 gene related products
- Applied Biological Materials CRISPR for TNNT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TNNT1
- GenScript: Design CRISPR guide RNA sequences for TNNT1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TNNT1
- Browse OriGene Inhibitory RNA Products For TNNT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNT1
- genomics-online: shRNA clones - Search results for available TNNI1 gene related products
Clone Products
-
OriGene ORF clones in human for TNNT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TNNT1
- VectorBuilder custom plasmid, inducible vectors for TNNT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TNNT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TNNT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TNNT1
- genomics-online: cdna clones - Search results for available TNNI1 gene related products
- orf clones - Search results for available TNNI1 gene related products
- Applied Biological Materials Clones for TNNT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for TNNT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Multinuclear Myocytes Anterior Neck Muscles
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Mononuclear Myocytes Hyoid Arch Muscles
- Multinuclear Myocytes Trunk Muscles
- Multinuclear Myocytes Hindlimb Ventral Muscle
-
Limb (Muscoskeletal System)
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Multinuclear Myocytes Hindlimb Ventral Muscle
- Multinuclear Myocytes Forelimb Ventral Muscles
- Multinuclear Myocytes Hindlimb Dorsal Muscle
-
Heart (Cardiovascular System)
- Primitive Heart Tube Cells Primitive Heart Tube
- Cardiac Fibroblasts Myocardium
- Heart Tube
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
-
Prostate (Endocrine System)
-
Dermis (Integumentary System)
-
Esophagus (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for TNNT1 Gene
This gene is overexpressed in Muscle - Skeletal (x49.9).
This gene is overexpressed in Heart (33.6), Esophagus (21.9), and Stomach (9.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNNT1 Gene
NURSA nuclear receptor signaling pathways regulating expression of TNNT1 Gene:
TNNT1SOURCE GeneReport for Unigene cluster for TNNT1 Gene:
Hs.631558Evidence on tissue expression from TISSUES for TNNT1 Gene
- Muscle(5)
- Heart(3.6)
- Blood(2.5)
- Skin(2.2)
- Nervous system(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TNNT1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- head
Thorax:
- chest wall
- clavicle
- lung
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
Limb:
- arm
- femur
- hip
- humerus
- lower limb
- shoulder
- thigh
- upper limb
General:
- spinal cord
Primer Products
-
OriGene qPCR primer pairs and template standards for TNNT1
-
OriGene qPCR primer pairs for TNNT1
- genomics-online: primer clones - Search results for available TNNI1 gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for TNNT1 Gene
Orthologs for TNNT1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TNNT1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TNNT1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TNNT1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Tnnt1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tnnt1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TNNT1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TNNT1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tnnt1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tnnt1 34 |
|
OneToOne | |
| zgc:193865 33 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.963 34 |
|
ManyToMany | |
| CSA.10162 34 |
|
ManyToMany |
- Species where no ortholog for TNNT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for TNNT1 Gene
- ENSEMBL:
- Gene Tree for TNNT1 (if available)
- TreeFam:
- Gene Tree for TNNT1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TNNT1: view image
Paralogs for TNNT1 Gene
(89) SIMAP similar genes for TNNT1 Gene using alignment to 14 proteins:
- TNNT1_HUMAN
- F5H1H4_HUMAN
- K7EKB5_HUMAN
- K7EKM3_HUMAN
- K7ELB0_HUMAN
- K7EQL4_HUMAN
- M0QX01_HUMAN
- M0QY38_HUMAN
- M0QZU8_HUMAN
- M0QZY5_HUMAN
- Q05DL6_HUMAN
- Q3B759_HUMAN
- Q56R93_HUMAN
- Q56R94_HUMAN
- UBXN4
- SIPA1L3
- HDGFRP2
- KIAA1651
- pp12301
- ZNF28
- EIF3G
- C12orf76
- ZNF257
- NDUFS3
- MAN2C1
- SUMO1
- SNRPF
- IK
- ARL6IP5
- VPS33A
- CALCOCO2
- ARIH1
- COQ5
- ADCK1
- ZNF554
- LSM12
- C11orf80
- TBCB
- ZNF620
- TUBA1C
- ZNF66
- TMX3
- SLC24A1
- MRPL45
- LDLRAD3
- FRG1
- AAMDC
- TM2D1
- C3orf33
- RHBG
- EEF1E1
- ZNF799
- RRM2B
- PARK2
- HNTN1
- ZNF114
- RPS13
- HINFP
- DYNC2LI1
- RBP7
- NLN
- DPP9
- ACTR10
- TNNT3
- CNN2
- SH2B3
- SEC14L3
- GBGT1
- FLJ00047
- CDK10
- TNNT2
- BIRC3
- ABI2
- ASCC1
- ZNF180
- NDC80
- RQCD1
- PFKFB3
- C21orf37
- HEXDC
- HBP1
- ZNF546
- PUS1
- EIF3K
- ZNF429
- PTPN22
- DOCK8
- GALK2
- FLJ16124
- TAF2
- MST132
- ATL2
- ATF1
- NLRC5
- RBMS2
- SUV420H1
- SMYD4
- RPGRIP1L
- MMADHC
- SEPSECS
- PDILT
- CNTLN
- GEMIN6
Variants for TNNT1 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112562759 | not-provided, benign, likely-benign, not provided, not specified, Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive | 55,147,019(-) | T/C | coding_sequence_variant, missense_variant | |
| rs11669534 | not-provided, benign, likely-benign, not provided, not specified, Nemaline Myopathy, Recessive | 55,146,720(-) | G/A | intron_variant | |
| rs138664823 | uncertain-significance, likely-benign, Nemaline Myopathy, Recessive, not specified | 55,134,051(-) | G/A | intron_variant | |
| rs141774400 | uncertain-significance, not specified, Nemaline Myopathy, Recessive | 55,137,134(-) | C/T | coding_sequence_variant, missense_variant | |
| rs200340030 | uncertain-significance, Nemaline myopathy 5 | 55,132,950(-) | C/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1140494 | CNV | deletion | 24896259 |
| nsv1071949 | CNV | deletion | 25765185 |
| nsv1060034 | CNV | gain | 25217958 |
| nsv1055961 | CNV | gain+loss | 25217958 |
| esv3644829 | CNV | gain | 21293372 |
| esv34356 | CNV | gain | 17911159 |
| esv2758772 | CNV | gain | 17122850 |
| esv2718955 | CNV | deletion | 23290073 |
| esv2718954 | CNV | deletion | 23290073 |
| esv2675833 | CNV | deletion | 23128226 |
| esv2541049 | CNV | insertion | 19546169 |
| esv2308409 | CNV | deletion | 18987734 |
| esv1688462 | CNV | deletion | 17803354 |
Residual Variation Intolerance Score:
57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.40;
54.31% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TNNT1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNT1 Gene
Disorders for TNNT1 Gene
(16) MalaCards diseases for TNNT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nemaline myopathy 5 |
|
|
| nemaline myopathy |
|
|
| leukorrhea |
|
|
| type 1 diabetes mellitus 3 |
|
|
| myopathy |
|
Search TNNT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TNNT1_HUMAN- Nemaline myopathy 5 (NEM5) [MIM:605355]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 5 is a severe and progressive form common among Old Order Amish. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year. {ECO:0000269 PubMed:10952871}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TNNT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TNNT1 Gene
Publications for TNNT1 Gene
- Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T. (PMID: 10191089) Barton PJ … Yacoub MH (Genomics 1999) 3 4 22 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
- Adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease. (PMID: 18579801) Larsson L … Jin JP (American journal of physiology. Cell physiology 2008) 3 22 58
- Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. (PMID: 15665378) Wang X … Jin JP (The Journal of biological chemistry 2005) 3 22 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
Products for TNNT1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for TNNT1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for TNNT1
- Search Origene for MassSpec and Protein Over-expression Lysates for TNNT1
- Origene Custom Protein Services for TNNT1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TNNT1
- Browse OriGene Inhibitory RNA Products For TNNT1
- OriGene qPCR primer pairs and template standards for TNNT1
- OriGene qPCR primer pairs for TNNT1
- OriGene CRISPR knockouts for TNNT1
- OriGene ORF clones in human for TNNT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TNNT1
- GenScript: Next-day shipping of latest version cDNA ORF clones for TNNT1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for TNNT1
- GenScript Custom Assay Services for TNNT1
- GenScript Custom overexpressing Cell Line Services for TNNT1
- GenScript: Design CRISPR guide RNA sequences for TNNT1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for TNNT1
- Sino Biological Human cDNA Clone for TNNT1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for TNNT1
- Novus Biologicals proteins and lysates for TNNT1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- VectorBuilder custom plasmid, inducible vectors for TNNT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TNNT1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TNNT1
- antibodies-online: Search results for 49 available TNNI1 Antibodies ranked by validation data
- Compare Top TNNI1 Antibodies
- antibodies-online: Search results for 40 available TNNI1 Elisa Kits ranked by validation data
- Compare Top TNNI1 Elisa Kits
- antibodies-online: Search results for 13 available TNNI1 Proteins ranked by validation data
- Compare Top TNNI1 Proteins
- GeneTex TNNT1 Antibody for TNNT1
- GeneTex Proteins for TNNT1
- Santa Cruz Biotechnology (SCBT) Antibodies for TNNT1
- Search Santa Cruz Biotechnology (SCBT) for TNNT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TNNT1
- Horizon Cell Lines for TNNT1
- genomics-online: cdna clones - Search results for available TNNI1 gene related products
- orf clones - Search results for available TNNI1 gene related products
- genomics-online: gRNA clones - Search results for available TNNI1 gene related products
- genomics-online: primer clones - Search results for available TNNI1 gene related products
- genomics-online: shRNA clones - Search results for available TNNI1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TNNT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TNNT1
- GeneCopoeia miRNA 3'UTR Target clone products for TNNT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNT1
Sources for TNNT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt