ENSG00000140416


Homo sapiens

Features
Gene ID: ENSG00000140416
  
Biological name :TPM1
  
Synonyms : P09493 / TPM1 / tropomyosin 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q22.2
Gene start: 63042632
Gene end: 63071915
  
Corresponding Affymetrix probe sets: 1558532_at (Human Genome U133 Plus 2.0 Array)   206116_s_at (Human Genome U133 Plus 2.0 Array)   206117_at (Human Genome U133 Plus 2.0 Array)   210986_s_at (Human Genome U133 Plus 2.0 Array)   210987_x_at (Human Genome U133 Plus 2.0 Array)   238688_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453050
Ensembl peptide - ENSP00000452999
Ensembl peptide - ENSP00000453062
Ensembl peptide - ENSP00000477929
Ensembl peptide - ENSP00000453955
Ensembl peptide - ENSP00000453941
Ensembl peptide - ENSP00000453817
Ensembl peptide - ENSP00000453724
Ensembl peptide - ENSP00000453324
Ensembl peptide - ENSP00000453136
Ensembl peptide - ENSP00000453092
Ensembl peptide - ENSP00000267996
Ensembl peptide - ENSP00000288398
Ensembl peptide - ENSP00000322577
Ensembl peptide - ENSP00000334624
Ensembl peptide - ENSP00000350667
Ensembl peptide - ENSP00000351022
Ensembl peptide - ENSP00000384315
Ensembl peptide - ENSP00000385107
Ensembl peptide - ENSP00000452624
Ensembl peptide - ENSP00000452658
Ensembl peptide - ENSP00000452830
Ensembl peptide - ENSP00000452879
Ensembl peptide - ENSP00000452887
Ensembl peptide - ENSP00000452977
NCBI entrez gene - 7168     See in Manteia.
OMIM - 191010
RefSeq - XM_017022541
RefSeq - NM_000366
RefSeq - NM_001018004
RefSeq - NM_001018005
RefSeq - NM_001018006
RefSeq - NM_001018007
RefSeq - NM_001018008
RefSeq - NM_001018020
RefSeq - NM_001301244
RefSeq - NM_001301289
RefSeq - XM_005254637
RefSeq - XM_005254638
RefSeq - XM_005254639
RefSeq - XM_005254645
RefSeq - XM_005254646
RefSeq - XM_005254647
RefSeq - XM_005254650
RefSeq - XM_005254651
RefSeq - XM_005254652
RefSeq - XM_005254653
RefSeq - XM_006720667
RefSeq - XM_017022534
RefSeq - XM_017022535
RefSeq - XM_017022536
RefSeq - XM_017022537
RefSeq - XM_017022538
RefSeq - XM_017022539
RefSeq - XM_017022540
RefSeq Peptide - NP_001317280
RefSeq Peptide - NP_000357
RefSeq Peptide - NP_001018004
RefSeq Peptide - NP_001018005
RefSeq Peptide - NP_001018006
RefSeq Peptide - NP_001018007
RefSeq Peptide - NP_001018008
RefSeq Peptide - NP_001018020
RefSeq Peptide - NP_001288173
RefSeq Peptide - NP_001288218
RefSeq Peptide - NP_001317273
RefSeq Peptide - NP_001317275
swissprot - D9YZV4
swissprot - B7Z596
swissprot - A0A0S2Z4G6
swissprot - A0A0K0K1I0
swissprot - A0A0G2JL94
swissprot - A0A087WTJ7
swissprot - F5H7S3
swissprot - H0YK20
swissprot - H0YK48
swissprot - H0YKJ4
swissprot - H0YKP3
swissprot - H0YKX5
swissprot - H0YKZ6
swissprot - H0YL42
swissprot - P09493
swissprot - Q6ZN40
swissprot - A0A024R5W6
swissprot - H0YL52
swissprot - H0YL80
swissprot - H0YLS7
swissprot - H0YN06
swissprot - H0YNC7
swissprot - H7BYY1
swissprot - D9YZV7
swissprot - D9YZV5
Ensembl - ENSG00000140416
  
Related genetic diseases (OMIM): 115196 - Cardiomyopathy, hypertrophic, 3, 115196
  611878 - Cardiomyopathy, dilated, 1Y, 611878
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tpmaENSDARG00000033683Danio rerio
 zgc:171719ENSDARG00000087402Danio rerio
 TPM1ENSGALG00000003521Gallus gallus
 Tpm1ENSMUSG00000032366Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TPM4 / P67936 / tropomyosin 4ENSG0000016746082
TPM3 / P06753 / tropomyosin 3ENSG0000014354978
TPM2 / P07951 / tropomyosin 2ENSG0000019846776


Protein motifs (from Interpro)
Interpro ID Name
 IPR000533  Tropomyosin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0003065 positive regulation of heart rate by epinephrine ISS
 biological_processGO:0006936 muscle contraction TAS
 biological_processGO:0006937 regulation of muscle contraction TAS
 biological_processGO:0007010 cytoskeleton organization TAS
 biological_processGO:0007015 actin filament organization IBA
 biological_processGO:0008016 regulation of heart contraction TAS
 biological_processGO:0008360 regulation of cell shape IMP
 biological_processGO:0030049 muscle filament sliding ISS
 biological_processGO:0030336 negative regulation of cell migration ISS
 biological_processGO:0031529 ruffle organization ISS
 biological_processGO:0032781 positive regulation of ATPase activity ISS
 biological_processGO:0034614 cellular response to reactive oxygen species IEP
 biological_processGO:0042060 wound healing ISS
 biological_processGO:0045214 sarcomere organization IMP
 biological_processGO:0045785 positive regulation of cell adhesion ISS
 biological_processGO:0051496 positive regulation of stress fiber assembly ISS
 biological_processGO:0055010 ventricular cardiac muscle tissue morphogenesis IMP
 biological_processGO:0060048 cardiac muscle contraction IMP
 biological_processGO:1904706 negative regulation of vascular smooth muscle cell proliferation IMP
 biological_processGO:1904753 negative regulation of vascular associated smooth muscle cell migration IMP
 cellular_componentGO:0001725 stress fiber IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton TAS
 cellular_componentGO:0005862 muscle thin filament tropomyosin TAS
 cellular_componentGO:0005884 actin filament IBA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030016 myofibril IEA
 cellular_componentGO:0030017 sarcomere TAS
 cellular_componentGO:0031941 filamentous actin IEA
 cellular_componentGO:0032059 bleb IMP
 cellular_componentGO:0032587 ruffle membrane IDA
 molecular_functionGO:0003779 actin binding TAS
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IPI
 molecular_functionGO:0008307 structural constituent of muscle TAS
 molecular_functionGO:0042802 identical protein binding ISS
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0046982 protein heterodimerization activity ISS
 molecular_functionGO:0051015 actin filament binding IBA


Pathways (from Reactome)
Pathway description
Striated Muscle Contraction
Smooth Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0001874 Abnormality of neutrophil 
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 HP:0003198 Myopathy 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0004756 Ventricular tachycardia 
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 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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